Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES952	WT	HH	HZ	NC
chr1	21834887	21834887	G	A	exonic	HSPG2	.	synonymous SNV	HSPG2:NM_001291860:exon77:c.C10515T:p.H3505H	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	273143	not_provided|Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome	MedGen:C3661900|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0007	0.0004	0.0007	0	0	0.0011	0.0011	0.0002	0.0006792	105	154602	rs55875654	0.0009	0.0009	0.0009	0.0010	0.0017	0.0009	0.0009	0.0010	0.0010	0.0004	0.0011	0.0004	0	5.631e-05	0.0017	0.0011	0.0008	0.0004	0.0010	0.0010	0.0009	0.0011	0.0033	0.0009	0.0008	0.0026	0.0023	0.0004	0	0.0033	0.0014	0.0002	0	0	0.0010	0.0014	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1539.98	39	chr1	21834887	.	G	A	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.569;DP=857;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-7.380e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1554,0,1662	20	0	1	0
chr1	28993501	28993501	G	A	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001166005:exon3:c.G640A:p.V214I	Elliptocytosis-1	.	1	1410	100	11	0	122	0.0414684	.	.	799215	Elliptocytosis_1|not_provided	MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.896	P	0.87	P	0.008	N	1.000	D	1.735	L	-1.0	T	-0.313	T	0.245	T	0.16	3.293	17.06	4.31	1.189	4.671	12.426	0.173	.	0.0378	0.0155751	0.0341	0.0076	0.0296	0.0001	0.0198	0.0498	0.0441	0.0133	0.0342492	5295	154602	rs111642750	0.0437	0.0438	0.0443	0.0432	0.0634	0.0435	0.0433	0.0580	0.0559	0.0070	0.0330	0.0611	5.041e-05	0.0240	0.0634	0.0498	0.0411	0.0136	0.0326	0.0327	0.0347	0.0305	0.0477	0.0319	0.0315	0.0464	0.0458	0.0084	0.0910	0.0440	0.0640	0	0.0217	0.0748	0.0477	0.0445	0.0096	0.139	0.43708	T	0.061	0.54159	T	0.009	0.49324	B	0.015	0.61806	B	0.008382	0.30866	N	0.335198	0.999994	0.58761	D	1.78	0.46185	L	-1.82	0.84047	D	-0.9	0.24244	N	0.17	0.25499	-0.3128	0.74626	T	0.245	0.61366	T	9	0.003148526	0.00053	T	.	.	.	0.173	0.43840	.	.	.	.	0.28088630267637577	0.28001	0.166873589523	0.18820	0.43623867631	0.30063	T	0.303499	0.67585	T	-0.34415	0.05105	T	-0.230618	0.51713	T	0.0158378503849092	0.00371	T	0.849315	0.65919	T	0.1558718	0.35205	0.101065055	0.24184	0.15956618	0.35836	0.101065055	0.24183	-6.826	0.53122	T	.	.	0.096	0.22789	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.104588	0.41856	21.4	0.99354740134365238	0.60738	0.90177	0.51150	D	AEFDBHCI	0.457931	0.50917	N	0.00512974626220698	0.42089	2.52939	0.1284128546935	0.46008	2.854032	0.999054950204163	0.38317	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	4.31	0.50718	4.421000	0.59598	3.077000	0.36224	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0807:0.0:0.9193:0.0	12.426	0.54884	453	0.79178	.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;.;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain	.	.	.	.	rs111642750	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2969.68	38	chr1	28993501	.	G	A	2969.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.279;DP=884;ExcessHet=0.3300;FS=2.138;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.305;SOR=0.859	GT:AD:DP:GQ:PL	0/1:45,35:80:99:919,0,1118	18	0	3	0
chr1	34761638	34761638	G	A	exonic	GJB4	.	stopgain	GJB4:NM_153212:exon2:c.G384A:p.W128X,	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant	YES	0	1518	4	0	0	4	0.00131579	.	.	696696	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	7.125	38	5.73	2.722	9.807	19.513	.	.	0.0018	0.00119808	0.0021	0.0002	0.0003	0	0.0015	0.0031	0.0011	0.0020	0.0020375	315	154602	rs149110828	0.0021	0.0021	0.0020	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0002	0.0005	0.0006	0	0.0021	0.0007	0.0023	0.0019	0.0022	0.0016	0.0016	0.0016	0.0016	0.0027	0.0014	0.0014	0.0024	0.0022	0.0004	0	0.0010	0.0006	0	0.0014	0	0.0027	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.854	0.85027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.77566	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.123774	0.99583	45	0.99662780554450969	0.78074	0.99170	0.92261	D	AEFBHCI	0.311340	0.41710	N	1.013966651329	0.96159	14.36666	0.897957624106448	0.95482	13.66478	1.0	0.98316	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.73	5.73	0.89730	8.021000	0.89136	8.642000	0.77898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.513	0.95144	905	0.23532	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3795.98	37	chr1	34761638	.	G	A	3795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=967;ExcessHet=0.0000;FS=0.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-2.480e-01;SOR=0.658	GT:AD:DP:GQ:PL	0/1:111,141:252:99:3810,0,3028	20	0	1	0
chr1	42746620	42746620	G	A	UTR3	P3H1	NM_001243246:c.*292C>T;NM_022356:c.*77C>T;NM_001146289:c.*213C>T	.	.	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	4	1360	148	10	0	168	0.0581717	.	.	864417	Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive|not_provided	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0551118	.	.	.	.	.	.	.	.	0.0076778	1187	154602	rs13871	0.0436	0.0414	0.0433	0.0438	0.1156	0.0432	0.0431	0.1122	0.1107	0.1156	0.0412	0.0608	0.0006	0.0280	0.0708	0.0423	0.0477	0.0545	0.0588	0.0589	0.0597	0.0578	0.1060	0.0577	0.0573	0.1034	0.1023	0.1060	0.0844	0.0468	0.0605	0.0012	0.0308	0.0646	0.0408	0.0678	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1694.92	28	chr1	42746620	.	G	A	1694.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.14;DP=525;ExcessHet=0.6776;FS=1.017;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.394;SOR=0.900	GT:AD:DP:GQ:PL	0/1:14,15:29:99:409,0,336	17	0	4	0
chr1	42757818	42757818	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon5:c.G1045A:p.G349R	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1359	156	7	0	170	0.0588643	.	.	365182	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.89	M	-1.66	D	-0.536	T	0.067	T	0.492	4.366	23.0	5.84	2.769	7.487	17.643	0.551	.	0.0655	0.0549121	0.0448	0.1086	0.0364	0.0016	0.0281	0.0410	0.0419	0.0555	0.0444626	6874	154602	rs6700677	0.0430	0.0430	0.0427	0.0433	0.1150	0.0427	0.0426	0.1120	0.1107	0.1150	0.0399	0.0612	0.0007	0.0277	0.0758	0.0414	0.0471	0.0547	0.0586	0.0587	0.0595	0.0577	0.1058	0.0576	0.0572	0.1032	0.1022	0.1058	0.0846	0.0467	0.0605	0.0012	0.0310	0.0646	0.0407	0.0681	0.0557	0.002	0.72154	D	0.006	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-1.66	0.82715	D	-4.54	0.81030	D	0.469	0.50508	-0.5361	0.67311	T	0.067	0.27640	T	10	0.0021423697	0.00031	T	.	.	.	0.551	0.81427	0.309	0.28128	.	.	0.6843972499464513	0.68378	0.800589739096	0.66227	0.689329564571	0.65610	T	0.482556	0.81065	T	-0.221005	0.17857	T	-0.00338102	0.70117	D	0.0414313809427587	0.03951	T	0.870113	0.57479	D	0.57059675	0.71093	0.4587038	0.68551	0.6272012	0.74149	0.48363465	0.70106	-11.724	0.83687	D	0.7061372760979174	0.78576	0.255	0.67264	B	.;.;.	.;.;.	4.831024	0.78774	27.0	0.99938680313730954	0.99698	0.99073	0.90830	D	AEFDGBI	0.951807	0.96671	D	0.841087739919886	0.88593	9.637593	0.781041610301148	0.88444	9.584876	0.999999999999953	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	17.643	0.88045	507	0.75469	.;.;.	RP5-994D16.3|P3H1|CLDN19	Brain_Cerebellum|Cells_Cultured_fibroblasts|Nerve_Tibial	.	.	rs6700677	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.09524	6117.92	44	chr1	42757818	.	C	T	6117.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.259;DP=1192;ExcessHet=0.6776;FS=3.217;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.518;SOR=0.511	GT:AD:DP:GQ:PL	0/1:76,87:163:99:2089,0,1966	17	0	4	0
chr1	42766833	42766833	C	A	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.G139T:p.A47S	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1410	108	4	0	116	0.0395095	.	.	365092	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_imperfecta|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.047	B	0.02	B	0.023	N	0.983	N	-0.05	N	1.22	T	-1.056	T	0.004	T	0.164	2.105	13.00	3.23	0.940	2.122	9.280	0.014	.	0.0423	0.0397364	0.0327	0.0842	0.0234	0.0018	0.0196	0.0294	0.0287	0.0465	0.030116	4656	154602	rs55716016	0.0318	0.0317	0.0315	0.0320	0.0836	0.0315	0.0314	0.0810	0.0799	0.0836	0.0234	0.0391	0.0008	0.0178	0.0411	0.0310	0.0319	0.0442	0.0414	0.0414	0.0421	0.0408	0.0757	0.0406	0.0402	0.0735	0.0726	0.0757	0.0844	0.0249	0.0389	0.0012	0.0210	0.0374	0.0296	0.0510	0.0439	0.387	0.11696	T	0.381	0.16086	T	0.047	0.21998	B	0.013	0.19048	B	0.022525	0.26616	N	0.389923	0.982945	0.24924	N	1.115	0.28702	L	1.22	0.37052	T	-0.34	0.13805	N	0.09	0.08227	-1.0561	0.12750	T	0.004	0.01261	T	10	0.0025526285	0.00039	T	.	.	.	0.014	0.01968	.	.	.	.	0.5244746260840524	0.52371	0.94384216601	0.72326	0.834239780903	0.87213	D	0.063977	0.32315	T	-0.571166	0.00218	T	-0.534036	0.18886	T	0.019137867165652	0.00621	T	0.570643	0.28992	T	0.052076228	0.09659	0.07407858	0.16166	0.066501446	0.14315	0.11549822	0.27881	-4.743	0.33920	T	0.09429628071394193	0.06295	0.077	0.06433	B	.;.;.;.	.;.;.;.	2.450515	0.31553	18.78	0.9420826326093541	0.24448	0.18604	0.20328	N	ALL	0.127930	0.24549	N	-0.485070535527865	0.22570	1.206057	-0.311555900562568	0.27725	1.540484	0.999999999999537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	3.23	0.36150	0.206000	0.17174	2.498000	0.33015	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.891000	0.42908	0.2134:0.7866:0.0:0.0	9.280	0.36881	507	0.75469	.;.;.;.	RP5-994D16.3|RP5-994D16.3|CLDN19|P3H1	Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Testis	.	.	rs55716016	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.09524	11418.92	40	chr1	42766833	.	C	A	11418.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.51;DP=1584;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.367;SOR=0.703	GT:AD:DP:GQ:PL	0/1:187,134:321:99:3071,0,4378	17	0	4	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/1:44,37,0:81:99:1412,0,1712,1545,1823,3368	15	0	5	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q,	Hypercholesterolemia, familial, 3	.	1	0	1	1520	0	3041	1	.	.	249989	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,206:206:99:6442,618,0	0	21	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	10989.78	44	chr1	89054646	.	GAAAAAC	G	10989.78	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.571;DP=815;ExcessHet=4.5793;FS=0.576;InbreedingCoeff=-0.2115;MLEAC=16;MLEAF=0.381;MQ=59.79;MQRankSum=0.00;QD=20.24;ReadPosRankSum=0.349;SOR=0.627	GT:AD:DP:GQ:PL	0/1:18,20:38:99:760,0,681	7	2	12	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,40,0:80:99:.:.:911,0,950,1106,946,2194	7	1	8	0
chr1	115738350	115738350	G	C	intronic	CASQ2	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	53333	Catecholaminergic_polymorphic_ventricular_tachycardia_2|not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia_1	MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286|MedGen:CN169374|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	0	0.0003	0.0022	0.0048	0.0006856	106	154602	rs199939582	0.0005	0.0005	0.0003	0.0007	0.0046	0.0005	0.0005	0.0042	0.0041	3.371e-05	0.0002	0.0005	0	0	0.0030	0.0002	0.0007	0.0046	0.0003	0.0003	0.0003	0.0003	0.0031	0.0003	0.0002	0.0019	0.0015	0	0	0.0002	0.0009	0	0	0	0.0004	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1460.98	34	chr1	115738350	.	G	C	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.090e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=0.548;SOR=0.737	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1475,0,1021	20	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/1:36,13,10,0,2:61:92:136,0,850,92,532,919,279,894,853,1178,220,971,869,1241,1615	0	0	10	0
chr1	161362413	161362413	A	T	exonic	SDHC	.	nonsynonymous SNV	SDHC:NM_001035513:exon4:c.A331T:p.M111L	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant	.	0	1477	45	0	0	45	0.015005	.	.	181603	Malignant_tumor_of_breast|not_specified|not_provided|Gastrointestinal_stromal_tumor|Paragangliomas_3|Ovarian_cancer|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.734	N	.	.	.	.	-3.43	D	-0.432	T	0.619	D	0.113	-0.590	1.356	-4.71	-0.842	-0.304	9.476	0.250	0.0570150424314	.	0.000599042	0.0006	0	0.0003	0	0	0.0002	0.0012	0.0032	2.59e-05	4	154602	rs200375156	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.988e-05	0.0002	0	0	0	0.0035	7.556e-05	0.0006	0.0040	0.0002	0.0002	7.774e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0001	0	0	0	0	7.371e-05	0	0.0044	0.163	0.23450	T	0.513	0.10714	T	0.0	0.02946	B	0.0	0.01387	B	0.733946	0.09831	N	0.880348	1	0.08975	N	.	.	.	-3.43	0.94388	D	0.25	0.04456	N	0.07	0.25006	-0.4316	0.71014	T	0.619	0.86580	D	8	0.013089299	0.00279	T	0.057015	0.66813	D	0.250	0.55888	0.476	0.55342	0.583677480531	0.58040	0.3585962639238585	0.35773	1.79880672876	0.91610	0.245953053236	0.03353	T	0.091916	0.38896	T	-0.362043	0.04016	T	-0.295247	0.45225	T	0.0138114803380374	0.00261	T	0.039596	0.00274	T	0.05469047	0.10526	0.07093414	0.15130	0.041325785	0.06066	0.04859368	0.07250	1.203	0.00232	T	0.03272251798696227	0.00128	0.081	0.10256	B	.;.;.	.;.;.	-0.585972	0.01610	0.110	0.57946038623444585	0.05882	0.04530	0.10162	N	AEFGBI	0.252733	0.37236	N	-1.45194162059434	0.02201	0.09694486	-1.51548168205956	0.02225	0.1019991	0.110365338529712	0.16631	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.27	-4.71	0.03042	-0.094000	0.11060	-0.665000	0.07962	-1.618000	0.00872	0.001000	0.13787	0.000000	0.08366	0.278000	0.23967	0.1931:0.3704:0.4365:0.0	9.476	0.38037	746	0.52331	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.04762	2001.11	43	chr1	161362413	.	A	T	2001.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.20;DP=966;ExcessHet=0.1072;FS=1.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.48;MQRankSum=1.35;QD=9.01;ReadPosRankSum=0.598;SOR=0.824	GT:AD:DP:GQ:PL	0/1:71,38:109:99:865,0,1909	19	0	2	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,16,0,0:79:99:0|1:168293284_A_AGT:198,0,2167,387,2215,2602,387,2215,2602,2602:168293284	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,16,0,0:79:99:0|1:168293284_A_AGT:198,0,2167,387,2215,2602,387,2215,2602,2602:168293284	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,16,0,0:79:99:0|1:168293284_A_AGT:198,0,2167,387,2215,2602,387,2215,2602,2602:168293284	3	0	13	0
chr1	179557079	179557079	C	T	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_014625:exon5:c.G686A:p.R229Q,	Nephrotic syndrome, type 2, Autosomal recessive	YES	1	1447	71	3	0	77	0.0259172	.	.	20409	not_specified|Focal_segmental_glomerulosclerosis|not_provided|Inborn_genetic_diseases|Nephrotic_syndrome,_type_2,_susceptibility_to|Nephrotic_syndrome,_type_2|Nephrotic_syndrome|NPHS2-related_disorder|Proteinuria	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|.|Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.903	P	0.313	B	0.000	D	1.000	D	1.355	L	-3.57	D	0.010	D	0.348	T	0.645	4.075	21.0	5.93	2.826	2.410	18.918	0.580	.	0.0274	0.0145767	0.0296	0.0074	0.0087	0.0002	0.0658	0.0375	0.0246	0.0273	0.0290229	4487	154602	rs61747728	0.0355	0.0355	0.0354	0.0356	0.0376	0.0353	0.0352	0.0373	0.0372	0.0057	0.0140	0.0485	7.559e-05	0.0661	0.0170	0.0376	0.0331	0.0280	0.0277	0.0277	0.0271	0.0284	0.0374	0.0270	0.0267	0.0362	0.0357	0.0061	0.0658	0.0186	0.0565	0.0004	0.0664	0.0034	0.0374	0.0199	0.0282	0.21	0.19639	T	0.179	0.29540	T	0.903	0.49795	P	0.313	0.41496	B	0.000015	0.62929	D	0.070347	0.999998	0.81001	D	1.68	0.43186	L	-3.57	0.94904	D	-2.1	0.47852	N	0.11	0.09631	0.010	0.82461	D	0.348	0.71257	T	10	0.00867492	0.00196	T	.	.	.	0.580	0.83081	.	.	.	.	0.6645189682641829	0.66388	0.805380534221	0.66431	0.368850588799	0.20667	T	0.710983	0.91756	D	-0.148293	0.28579	T	0.0427785	0.73110	D	0.0303930250691861	0.02050	T	0.885211	0.61002	D	0.41818437	0.61971	0.33342767	0.59180	0.38918266	0.59974	0.2819649	0.54181	-7.559	0.58024	D	0.3024639792626065	0.39990	0.113	0.22208	B	.	.	3.991594	0.58755	24.0	0.99923653484275776	0.98917	0.79160	0.39174	D	AEFBI	0.302058	0.41041	N	0.400990723799176	0.61479	4.349355	0.493996566170717	0.67591	5.104625	0.282388409204083	0.19001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	2.460000	0.44689	4.818000	0.45095	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.918	0.92484	549	0.72275	Band 7 domain|Band 7 domain	RALGPS2|AXDND1|RP11-545A16.1|AXDND1|FAM163A|RP11-12M5.3	Artery_Tibial|Colon_Transverse|Colon_Transverse|Thyroid|Thyroid|Thyroid	.	.	rs61747728	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	0.04762	3795.11	36	chr1	179557079	.	C	T	3795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.858;DP=977;ExcessHet=0.1072;FS=0.426;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.730;SOR=0.649	GT:AD:DP:GQ:PL	0/1:58,76:134:99:1823,0,1372	19	0	2	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	0/1:33,60:93:99:1519,0,668	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4956,474,0	2	8	11	0
chr1	209626008	209626008	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon13:c.G1616A:p.R539Q	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	761518	LAMB3-related_disorder|not_provided|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.377	B	0.05	B	0.000	D	0.826	N	0.235	N	0.1	T	-1.035	T	0.077	T	0.221	2.317	13.71	5.0	2.356	1.176	6.932	0.123	0.0354507522323	.	0.000599042	0.0005	0	0	0.0001	0	4.62e-05	0	0.0034	0.000401	62	154602	rs530692211	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0028	5.978e-05	0	0	5.041e-05	0	0	0.0001	0.0002	0.0033	0.0001	0.0001	6.422e-05	0.0002	0.0035	9.736e-05	8.251e-05	0.0022	0.0018	2.405e-05	0	0	0	0	0	0	5.879e-05	0	0.0035	0.369	0.11586	T	0.381	0.15939	T	0.377	0.34270	B	0.05	0.25278	B	0.000042	0.53742	D	0.121442	0.825937	0.28822	N	0.47	0.13106	N	0.1	0.61326	T	-0.6	0.17834	N	0.119	0.11054	-1.0346	0.18983	T	0.077	0.30676	T	10	0.010803431	0.00239	T	0.035451	0.56350	D	0.123	0.34020	0.535	0.64439	0.788388627604	0.78642	0.28161148535121355	0.28074	0.134947152804	0.15209	0.453818291426	0.32466	T	0.050683	0.28666	T	-0.481517	0.00724	T	-0.466232	0.25924	T	0.0864944128708969	0.10796	T	0.660634	0.26999	T	0.06701003	0.14472	0.04915629	0.07453	0.07819125	0.17791	0.047008168	0.06676	-4.627	0.32509	T	0.16706502647149052	0.20809	0.077	0.06571	B	.;.;.	.;.;.	3.268191	0.44723	22.0	0.99677152801105606	0.78977	0.67818	0.33571	D	AEFDBCIJ	0.358221	0.44897	N	-0.231852097575016	0.31834	1.789019	-0.0565805151659125	0.37207	2.175386	0.999999936420308	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.0	5.0	0.66209	0.222000	0.17482	3.977000	0.40873	0.599000	0.40250	0.073000	0.22155	1.000000	0.68203	0.983000	0.59808	0.0:0.778:0.0:0.222	6.932	0.23625	949	0.11373	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1657.98	39	chr1	209626008	.	C	T	1657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=1032;ExcessHet=0.0000;FS=2.165;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.314;SOR=0.523	GT:AD:DP:GQ:PL	0/1:75,69:144:99:1672,0,1730	20	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3570,339,0	0	21	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A,	.	YES	424	234	529	335	0	1199	0.719256	.	.	1704219	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.983	N	1.000	P	-0.695	N	2.07	T	-0.944	T	0.000	T	0.028	-1.112	0.132	1.01	-0.121	0.079	3.041	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5714	30384.06	73	chr1	226736237	.	A	C	30384.06	.	AC=24;AF=0.571;AN=42;BaseQRankSum=2.65;DP=1720;ExcessHet=0.2438;FS=1.233;InbreedingCoeff=0.2222;MLEAC=24;MLEAF=0.571;MQ=60.00;MQRankSum=0.00;QD=23.70;ReadPosRankSum=0.128;SOR=0.798	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1220,0,1386	5	8	8	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H,	.	.	430	682	354	56	0	466	0.254645	.	.	1704218	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.946	P	0.224	B	0.000	D	0.418	P	0.805	L	1.24	T	-0.958	T	0.000	T	0.149	4.025	20.6	4.6	2.374	2.942	9.190	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	Benign	0	0	0	0	0	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	12618.55	50	chr1	226736941	.	C	T	12618.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.523e+00;DP=1760;ExcessHet=2.5830;FS=32.932;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=0.230;SOR=0.102	GT:AD:DP:GQ:PL	0/1:38,62:100:99:1634,0,901	14	0	7	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:16,47,4:72:99:1024,0,229,1124,259,1837	6	1	13	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	0/1:9,4,0:13:99:106,0,286,133,298,431	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	1/5:5,11,6,0,0,12,0:34:99:761,415,456,345,177,455,688,501,509,834,688,501,509,834,834,217,0,220,368,368,489,688,501,509,834,834,368,834	0	0	1	1
chr2	21001971	21001971	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.C13451T:p.T4484M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1452	67	2	0	71	0.0238655	.	.	250516	Hypercholesterolemia,_familial,_1|not_provided|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified	MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.271	N	0.999	N	-2.16	N	1.17	T	-0.988	T	0.000	T	0.072	-1.930	0.008	2.22	0.490	1.767	6.340	0.033	.	0.0374	0.0383387	0.0128	0.1093	0.0119	0.0001	0	0.0041	0.0165	0.0013	0.0126454	1955	154602	rs12713450	0.0061	0.0061	0.0064	0.0057	0.1169	0.0059	0.0059	0.1138	0.1125	0.1169	0.0127	0.0095	7.56e-05	0.0001	0.0619	0.0025	0.0133	0.0015	0.0337	0.0338	0.0351	0.0324	0.1071	0.0330	0.0327	0.1045	0.1034	0.1071	0	0.0217	0.0144	0.0002	0	0.0680	0.0030	0.0360	0.0010	0.857	0.02691	T	0.339	0.18071	T	.	.	.	.	.	.	0.270656	0.15134	N	0.646971	1	0.08975	N	.	.	.	1.17	0.37910	T	1.51	0.00728	N	0.018	0.00252	-0.9882	0.33052	T	0.000	0.00114	T	10	0.0017679632	0.00023	T	.	.	.	0.033	0.08068	.	.	.	.	0.15419843173807007	0.15340	0.037600078652	0.03990	0.264712750912	0.05465	T	.	.	.	-0.71422	0.00030	T	-0.711851	0.05200	T	0.00588594810626993	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.	.	0.924158	0.12994	9.497	0.54444621325845222	0.05139	0.29796	0.23916	N	AEFBCI	0.270368	0.38645	N	-1.17448093382538	0.05388	0.2455081	-0.990818953714507	0.09990	0.5004064	0.964727231616219	0.28780	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	2.22	0.27116	2.311000	0.43377	2.541000	0.33216	-0.151000	0.12117	0.985000	0.35982	0.108000	0.22760	0.012000	0.09680	0.4718:0.0:0.5282:0.0	6.340	0.20521	861	0.33516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6614.68	33	chr2	21001971	.	G	A	6614.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.018;DP=1129;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.055;SOR=0.793	GT:AD:DP:GQ:PL	0/1:98,92:190:99:2237,0,2369	18	0	3	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:431,447:878:99:11113,0,10947	18	0	3	0
chr2	26474679	26474679	C	T	intronic	OTOF	.	.	.	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	0.0001	0.006	887341	Autosomal_recessive_nonsyndromic_hearing_loss_9|not_provided	MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.00259585	0.0005	0	0	0.0007	0	6.078e-05	0.0011	0.0030	0.0004916	76	154602	rs375186827	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	2.236e-05	0	0.0013	0	0	6.025e-05	9.936e-05	0.0023	0.0002	0.0002	0.0002	0.0002	0.0052	0.0002	0.0001	0.0036	0.0031	4.811e-05	0	0	0	0.0002	0	0	7.352e-05	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1815.98	35	chr2	26474679	.	C	T	1815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.973;DP=841;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-3.770e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:65,77:142:99:1830,0,1375	20	0	1	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R,	.	.	0	1503	19	0	0	19	0.00628099	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.063	B	0.018	B	0.560	N	1.000	N	1.7	L	2.01	T	-0.991	T	0.041	T	0.17	1.931	12.41	1.51	0.323	0.515	5.306	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	3270.98	33	chr2	29071203	.	T	C	3270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=872;ExcessHet=0.0000;FS=4.465;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.80;ReadPosRankSum=-1.131e+00;SOR=1.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,88:174:99:0|1:29071203_T_C:3285,0,2288:29071203	20	0	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K,	.	.	0	1507	15	0	0	15	0.00495213	.	.	190299	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.454	P	0.09	B	0.560	N	1.000	N	2.045	M	2.0	T	-1.052	T	0.051	T	0.233	2.164	13.19	4.38	2.469	2.834	11.656	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2284.98	33	chr2	29071204	.	G	T	2284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.551e+00;DP=871;ExcessHet=0.0000;FS=7.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.341e+00;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,84:174:99:0|1:29071203_T_C:2299,0,3424:29071203	20	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4520,435,0	0	14	7	0
chr2	47806661	47806661	-	AACTA	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	2	1516	4	0	0	4	0.00131752	.	.	94973	Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colon_cancer|not_specified|not_provided|Lynch_syndrome_5|Hereditary_nonpolyposis_colorectal_neoplasms	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0018630,MedGen:C1333990,OMIM:PS120435,Orphanet:443909|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MeSH:D003123,MedGen:C0009405	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0003	0	0.0002	0.0001	0.0002	0.0002	0	0.0009	3.84e-05	1	26028	rs730882138	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	0	3.836e-05	5.052e-05	0.0001	0.0005	0.0001	9.983e-05	0.0010	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0003	0.0002	2.439e-05	0	0	0	0	0	0	0.0004	0.0010	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2093.94	92	chr2	47806661	.	T	TAACTA	2093.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.917e+00;DP=1723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.59;ReadPosRankSum=0.098;SOR=0.668	GT:AD:DP:GQ:PL	0/1:43,54:97:99:2108,0,1610	20	0	1	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/2:40,4,11:67:99:112,131,1592,0,969,877	0	0	1	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	45133	not_provided|Gonadotropin-independent_familial_sexual_precocity	MedGen:C3661900|MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8827.49	69	chr2	48713933	.	CA	C	8827.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.440e-01;DP=1030;ExcessHet=0.2785;FS=0.528;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.69;ReadPosRankSum=0.469;SOR=0.640	GT:AD:DP:GQ:PL	0/1:59,39:98:99:1283,0,2048	15	1	5	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/3:42,0,0,8:50:44:44,169,1102,169,1102,1102,0,933,933,909	1	5	12	0
chr2	70958135	70958135	G	A	exonic	ATP6V1B1	.	synonymous SNV	ATP6V1B1:NM_001692:exon3:c.G264A:p.A88A,	Renal tubular acidosis with deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	53393	Renal_tubular_acidosis_with_progressive_nerve_deafness|ATP6V1B1-related_disorder|not_provided|not_specified	MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000199681	0.0013	0.0002	0.0003	0.0001	0.0007	0.0019	0.0023	0.0007	0.0010996	170	154602	rs147576439	0.0013	0.0013	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	2.987e-05	0.0003	0	5.038e-05	0.0008	0.0005	0.0016	0.0009	0.0006	0.0008	0.0008	0.0010	0.0006	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0.0011	0.0003	0	0	0.0005	0	0.0013	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	1592.98	34	chr2	70958135	.	G	A	1592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=825;ExcessHet=0.0000;FS=6.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.939e+00;SOR=0.973	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1607,0,1464	20	0	1	0
chr2	71526286	71526286	G	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon12:c.G1123C:p.V375L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1511	10	1	0	12	0.00395517	.	.	100164	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_specified|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.018	B	0.079	B	0.001	D	0.773	D	1.735	L	-1.52	D	-0.450	T	0.294	T	0.056	1.327	10.35	2.23	0.816	2.301	8.100	0.214	.	0.0081	0.00219649	0.0057	0.0019	0.0016	0	0.0092	0.0081	0.0066	0.0025	0.0056856	879	154602	rs150724610	0.0085	0.0085	0.0087	0.0083	0.0101	0.0084	0.0083	0.0100	0.0099	0.0012	0.0020	0.0001	2.519e-05	0.0078	0.0009	0.0101	0.0068	0.0024	0.0061	0.0061	0.0067	0.0055	0.0101	0.0058	0.0056	0.0095	0.0093	0.0014	0.0011	0.0040	0	0	0.0085	0	0.0101	0.0052	0.0029	0.089	0.32929	T	0.092	0.40909	T	0.002	0.17786	B	0.031	0.25434	B	0.000910	0.41128	D	0.212330	0.772638	0.34170	D	0.97	0.24054	L	-1.52	0.81478	D	-1.84	0.44284	N	0.154	0.17966	-0.4504	0.70387	T	0.294	0.66526	T	10	0.007504314	0.00171	T	.	.	.	0.214	0.50650	0.723	0.85761	0.635721508651	0.63273	0.35759641796665004	0.35673	0.160484152637	0.18112	0.478802144527	0.35892	T	0.264942	0.63676	T	-0.455883	0.01042	T	-0.421365	0.30919	T	0.00645475597468689	0.00072	T	0.917608	0.72230	D	0.07233059	0.16083	0.099955626	0.23884	0.0855163	0.19841	0.096285954	0.22870	-6.061	0.50525	T	0.08613788668318835	0.04929	0.223	0.48541	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.940558	0.57659	23.9	0.97828473811411021	0.36246	0.81161	0.40624	D	AEFBI	0.237441	0.35972	N	-0.310802416255865	0.28736	1.587536	-0.237463086190991	0.30205	1.698712	0.999822882834597	0.43622	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	2.23	0.27189	3.148000	0.50343	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.3107:0.0:0.6893:0.0	8.100	0.30013	541	0.72942	.;.;.;.;FerIin domain|FerIin domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	984.98	35	chr2	71526286	.	G	C	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=839;ExcessHet=0.0000;FS=3.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.161;SOR=1.034	GT:AD:DP:GQ:PL	0/1:90,42:132:99:999,0,2196	20	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	.	910	207	66	339	0	744	0.642487	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0	3	11	4	3
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	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	278.85	47	chr2	113063237	.	C	G	278.85	.	AC=10;AF=0.714;AN=14;DP=47;ExcessHet=0.0000;FS=0.000;MLEAC=17;MLEAF=1.00;MQ=60.00;QD=27.89;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	5	0	14
chr2	169289151	169289151	C	T	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	0	1386	130	6	0	142	0.0487303	0	0.008	134991	not_specified|Donnai-Barrow_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0117812	0.0116	0.0015	0.0086	0.0001	0.0021	0.0088	0.0166	0.0410	0.0107955	1669	154602	rs144147038	0.0097	0.0097	0.0085	0.0109	0.0572	0.0096	0.0095	0.0521	0.0502	0.0016	0.0078	0.0287	2.52e-05	0.0022	0.0572	0.0076	0.0120	0.0401	0.0073	0.0073	0.0066	0.0080	0.0360	0.0069	0.0068	0.0316	0.0299	0.0015	0	0.0076	0.0311	0.0002	0.0030	0.0544	0.0085	0.0099	0.0360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4938.44	84	chr2	169289151	.	C	T	4938.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.21;DP=989;ExcessHet=1.1607;FS=0.539;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.273;SOR=0.625	GT:AD:DP:GQ:PL	0/1:46,34:80:99:821,0,1033	16	0	5	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	0/1:31,24,0:55:99:475,0,696,568,768,1337	5	0	3	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1402.97	160	chr2	178535858	.	GA	G	1402.97	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.350e-01;DP=3018;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.4826;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.092;SOR=0.674	GT:AD:DP:GQ:PL	0/1:110,22:156:99:168,0,2473	7	0	14	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:19,10,0,0:29:99:242,0,569,299,599,898,299,599,898,898	1	0	14	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1509	12	0	0	12	0.0039604	.	.	55786	Brugada_syndrome|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.035	B	0.037	B	.	.	1.000	D	2.665	M	-0.39	T	-0.702	T	0.233	T	0.577	-0.994	0.269	3.8	0.195	5.182	10.476	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1641.98	82	chr2	178731827	.	T	C	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1070;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=2.00;SOR=0.691	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1656,0,1460	20	0	1	0
chr2	181656875	181656875	C	G	exonic	CERKL	.	nonsynonymous SNV	CERKL:NM_001030311:exon1:c.G132C:p.E44D	Retinitis pigmentosa 26	.	.	.	.	.	.	.	.	.	.	177580	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.447	B	0.205	B	0.148	N	1.000	N	0	N	2.33	T	-1.046	T	0.041	T	0.112	1.813	12.02	2.6	0.498	1.008	6.722	0.003	0.0300753105656	.	.	0.0006	0	0	0	0	4.842e-05	0.0048	0.0039	0.0004657	72	154602	rs727503857	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	0	0	0	1.9e-05	0.0002	3.704e-05	0.0003	0.0026	4.599e-05	4.596e-05	3.853e-05	5.379e-05	0.0014	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.161	0.48642	T	0.715	0.05747	T	0.001	0.36006	B	0.006	0.37080	B	0.148145	0.18058	N	0.499369	0.999678	0.20721	N	0.55	0.14455	N	2.08	0.35775	T	-0.88	0.28084	N	0.178	0.19190	-1.0458	0.15592	T	0.041	0.17573	T	10	0.00588274	0.00132	T	0.030075	0.52463	D	0.003	0.00094	0.219	0.14078	0.548103985532	0.54466	0.3804357887923224	0.37958	0.0844159057736	0.09537	0.692180514336	0.66019	T	0.005728	0.05178	T	-0.58015	0.00192	T	-0.6098	0.12001	T	0.027881666029879	0.01671	T	0.59544	0.22079	T	0.06708676	0.14496	0.064091556	0.12796	0.073752195	0.16502	0.07078257	0.15081	-4.137	0.33161	T	.	.	0.119	0.36712	B	.;.;.;.;.	.;.;.;.;.	1.442833	0.18626	13.84	0.96577734048986363	0.30322	0.62715	0.31866	D	AEFDGBHCI	0.152404	0.27707	N	-0.945894875845484	0.09785	0.4646528	-0.879869415583135	0.12572	0.6474393	0.999999931675374	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.42	2.6	0.30173	1.122000	0.30909	0.481000	0.18806	-0.171000	0.11205	0.901000	0.31451	0.960000	0.29291	0.118000	0.19084	0.1747:0.7315:0.0:0.0938	6.722	0.22523	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1897.98	37	chr2	181656875	.	C	G	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.289e+00;DP=896;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=1.48;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,51:107:99:0|1:181656851_G_A:1912,0,2045:181656851	20	0	1	0
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Hereditary_cancer-predisposing_syndrome|Breast_neoplasm|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	1431.23	10	chr2	214792458	.	TAA	TA,T	1431.23	.	AC=8,6;AF=0.250,0.188;AN=32;BaseQRankSum=0.718;DP=282;ExcessHet=0.8727;FS=0.762;InbreedingCoeff=-0.1143;MLEAC=10,6;MLEAF=0.313,0.188;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:5,5,0:10:93:93,0,93,108,108,216	5	1	6	5
chr2	227290894	227290894	G	A	ncRNA_intronic	MFF-DT	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.08	774701	Alport_syndrome|not_provided|Kidney_disorder	MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	1.96e-05	0	0.0012	0.0001229	19	154602	rs545181831	6.315e-05	6.362e-05	2.867e-05	9.802e-05	0.0007	5.246e-05	4.862e-05	0.0006	0.0005	0	0	0	2.521e-05	0	0.0002	1.981e-05	9.96e-05	0.0007	5.255e-05	5.249e-05	3.856e-05	6.716e-05	0.0008	2.556e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0	0	0.0068	2.94e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1444.98	34	chr2	227290894	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.369e+00;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=1.22;SOR=0.669	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1459,0,1629	20	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:46,61:107:99:1489,0,1161	4	4	13	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	0/1:6,7:13:99:224,0,187	8	3	10	0
chr3	10141956	10141970	GAGTCCGGCCCGGAA	-	exonic	VHL	.	nonframeshift deletion	VHL:NM_000551:exon1:c.109_123del:p.S43_E47del	Erythrocytosis, familial, 2, Autosomal recessive;Hemangioblastoma, cerebellar, somatic (3);Pheochromocytoma, Autosomal dominant;Renal cell carcinoma, somatic;von Hippel-Lindau syndrome, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	212278	not_provided|Hereditary_cancer-predisposing_syndrome|Chuvash_polycythemia|Von_Hippel-Lindau_syndrome	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009892,MedGen:C1837915,OMIM:263400,Orphanet:238557|MONDO:MONDO:0008667,MedGen:C0019562,OMIM:193300,Orphanet:892	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0008	5.17e-05	8	154602	rs1376074402	7.673e-05	7.593e-05	5.795e-05	9.607e-05	0.0002	6.479e-05	6.018e-05	0.0001	0.0001	0	0	3.994e-05	0	0	0.0002	7.705e-05	6.93e-05	0.0002	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	883.94	36	chr3	10141955	.	GGAGTCCGGCCCGGAA	G	883.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=751;ExcessHet=0.0000;FS=6.823;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-1.057e+00;SOR=1.973	GT:AD:DP:GQ:PL	0/1:23,23:46:99:898,0,874	20	0	1	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	67	130	17	12	0	41	0.136213	.	.	293472	not_provided|Congenital_Myasthenic_Syndrome,_Recessive	MedGen:C3661900|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3088.27	26	chr3	15521729	.	T	TTG	3088.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.062;DP=734;ExcessHet=7.7275;FS=1.087;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.115;SOR=0.769	GT:AD:DP:GQ:PL	0/1:24,12:36:99:327,0,763	10	0	11	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:17,11,0:28:99:325,0,621,376,654,1030	5	3	12	0
chr3	133777188	133777188	G	A	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon15:c.G1631A:p.G544E	Atransferrinemia, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	27655	not_provided|not_specified|TF-related_disorder|Atransferrinemia|Transferrin_variant_B2	MedGen:C3661900|MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	4.135	H	0.94	T	0.042	D	0.340	T	0.856	3.987	20.4	5.46	2.847	5.636	16.328	0.386	0.0907658880166	0.0037	0.00179712	0.0025	0.0014	0.0023	0	0.0008	0.0037	0.0011	0.0004	0.0028137	435	154602	rs121918677	0.0039	0.0040	0.0040	0.0039	0.0049	0.0039	0.0038	0.0047	0.0047	0.0007	0.0020	0.0006	2.519e-05	0.0008	0.0002	0.0049	0.0029	0.0003	0.0029	0.0029	0.0033	0.0026	0.0051	0.0027	0.0026	0.0046	0.0045	0.0010	0.0175	0.0018	0.0020	0	0.0009	0.0034	0.0051	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.108637	0.999999	0.81001	A	4.45	0.98819	H	0.94	0.43672	T	-6.85	0.93097	D	0.625	0.63968	0.042	0.83080	D	0.340	0.70600	T	9	0.01994747	0.00452	T	0.090766	0.75580	D	0.386	0.70276	.	.	0.864093604746	0.86278	0.8328172867685449	0.83240	1.24056810101	0.81556	0.538030028343	0.44168	T	0.41875	0.77099	T	-0.117032	0.33611	T	0.0635406	0.74479	D	0.15387307904342	0.17408	T	0.946705	0.79569	D	0.94268596	0.95521	0.909482	0.95652	0.94758284	0.96020	0.9281765	0.96969	-9.534	0.71070	D	0.8508024073670438	0.91699	0.774	0.76107	P	.	.	5.125082	0.85741	28.7	0.99692900305673782	0.80044	0.95906	0.66665	D	AEFDBHCI	0.942817	0.94787	D	0.968827136500522	0.94703	12.969	0.858226409787106	0.93487	12.07555	0.999999999953318	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.46	5.46	0.80021	5.209000	0.65041	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.282000	0.24066	0.0:0.0:1.0:0.0	16.328	0.82826	875	0.30485	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	970.98	36	chr3	133777188	.	G	A	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=796;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.07;ReadPosRankSum=-7.700e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/1:65,42:107:99:985,0,1546	20	0	1	0
chr3	148994180	148994180	G	A	exonic	GYG1	.	nonsynonymous SNV	GYG1:NM_001184720:exon2:c.G46A:p.A16T	Polyglucosan body myopathy 2, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	1630958	not_provided|Inborn_genetic_diseases|Polyglucosan_body_myopathy_type_2|Glycogen_storage_disease_XV	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014526,MedGen:C4015452,OMIM:616199,Orphanet:456369|MONDO:MONDO:0013291,MedGen:C3150754,OMIM:613507,Orphanet:263297	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.674	P	0.182	B	0.000	D	1.000	D	1.85	L	0.85	T	-0.852	T	0.141	T	0.476	3.914	19.90	5.29	2.466	6.292	18.942	0.125	0.0189551669034	.	0.000798722	0.0009	9.632e-05	0.0006	0	0	4.504e-05	0	0.0063	0.0007762	120	154602	rs200947378	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0004	0.0066	0.0064	8.962e-05	4.472e-05	0	0	0	0.0021	4.407e-05	0.0006	0.0071	0.0002	0.0002	5.15e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.417e-05	0	0	0	0	0	0	4.414e-05	0	0.0052	0.086	0.34621	T	0.066	0.48080	T	0.14	0.41239	B	0.039	0.35926	B	0.000007	0.62929	D	0.109289	1	0.81001	D	2.55	0.74443	M	0.85	0.47130	T	-1.7	0.40468	N	0.414	0.45803	-0.8518	0.51844	T	0.141	0.46054	T	10	0.01212883	0.00262	T	0.018955	0.41188	T	0.125	0.34456	0.607	0.73945	0.656629922374	0.65376	0.554284495195052	0.55355	0.105508220992	0.11931	0.639343380928	0.58471	T	0.251625	0.62190	T	-0.372465	0.03471	T	-0.304768	0.44219	T	0.0903793995208192	0.11263	T	0.768423	0.39947	T	0.45805606	0.64550	0.3739901	0.62575	0.539859	0.69390	0.3447308	0.60165	-5.834	0.46036	T	0.2348835315590937	0.31801	0.158	0.35013	B	.;.;.;.;.;.	.;.;.;.;.;.	3.692126	0.52612	23.3	0.99801614418373552	0.88639	0.95900	0.66639	D	AEFGBCI	0.844488	0.76145	D	0.283108905397718	0.55290	3.693315	0.404740604957056	0.61858	4.392114	0.999999999999998	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.403000	0.73186	6.629000	0.56146	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	18.942	0.92584	906	0.23090	.;.;.;.;.;.	.	.	.	.	.	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	0.04762	1705.11	34	chr3	148994180	.	G	A	1705.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=6.000e-03;DP=858;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.02;SOR=0.712	GT:AD:DP:GQ:PL	0/1:68,51:119:99:991,0,1645	19	0	2	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:272,62,115,16,0:501:99:4507,1507,10606,0,8804,11377,2810,10894,11592,14481,4624,11166,10362,13155,14102	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:272,62,115,16,0:501:99:4507,1507,10606,0,8804,11377,2810,10894,11592,14481,4624,11166,10362,13155,14102	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:272,62,115,16,0:501:99:4507,1507,10606,0,8804,11377,2810,10894,11592,14481,4624,11166,10362,13155,14102	5	0	0	0
chr3	185192290	185192290	G	A	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.C1820T:p.S607F	.	.	426	1080	16	0	0	16	0.00735294	.	.	697968	not_provided|Chronic_kidney_disease	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.942	P	0.823	P	0.003	N	1.000	D	2.18	M	-2.55	D	0.522	D	0.699	D	0.208	3.553	18.12	5.03	1.498	3.723	15.179	0.441	.	0.0106	0.00519169	0.0097	0.0030	0.0065	0	0.0030	0.0138	0.0110	0.0075	0.0020698	320	154602	rs55752621	0.0123	0.0123	0.0123	0.0123	0.0182	0.0122	0.0121	0.0154	0.0143	0.0024	0.0073	0.0047	5.038e-05	0.0033	0.0182	0.0143	0.0110	0.0077	0.0084	0.0084	0.0090	0.0079	0.0142	0.0080	0.0079	0.0134	0.0131	0.0021	0	0.0095	0.0035	0	0.0027	0.0170	0.0142	0.0090	0.0037	0.004	0.65419	D	0.007	0.69154	D	0.942	0.52977	P	0.823	0.59197	P	0.003430	0.34958	N	0.304535	0.665072	0.33088	D	1.975	0.53506	M	-2.55	0.89561	D	-3.2	0.64710	D	0.088	0.12198	0.522	0.90851	D	0.699	0.89617	D	10	0.0045408607	0.00094	T	.	.	.	0.441	0.74447	.	.	0.809898457183	0.80811	0.5020311587281656	0.50125	0.217767607061	0.24300	0.351432025433	0.18132	T	0.429086	0.77801	T	-0.314954	0.07318	T	-0.212213	0.53484	T	0.0193413575760325	0.00639	T	0.869413	0.57379	D	0.37099153	0.58658	0.44714317	0.67804	0.49529305	0.66818	0.44714317	0.67804	-7.311	0.57856	T	0.5527826624572862	0.62121	0.155	0.34383	B	.;.	.;.	4.191394	0.63170	24.5	0.99810822710827896	0.89442	0.96373	0.68821	D	AEFBI	0.794060	0.72188	D	0.538369264754019	0.69376	5.348222	0.512215677056828	0.68811	5.271874	0.892443792329798	0.25883	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.03	0.67015	3.814000	0.55348	6.597000	0.56044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0673:0.0:0.9327:0.0	15.179	0.72625	666	0.61362	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1564.98	35	chr3	185192290	.	G	A	1564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.500e-02;DP=837;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-9.990e-01;SOR=0.994	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1579,0,1609	20	0	1	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	.	432	231	483	376	0	1235	0.727755	.	.	1276892	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3763,342,0	5	7	9	0
chr4	54658001	54658001	T	A	UTR5	KIT	NM_000222:c.-14T>A;NM_001093772:c.-14T>A;NM_001385284:c.-14T>A;NM_001385285:c.-14T>A;NM_001385286:c.-14T>A;NM_001385288:c.-14T>A;NM_001385290:c.-14T>A;NM_001385292:c.-14T>A	.	.	Gastrointestinal stromal tumor, familial, Autosomal dominant, Isolated cases;Germ cell tumors, Somatic mutation;Leukemia, acute myeloid, Autosomal dominant;Mast cell disease, Autosomal dominant;Piebaldism, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	251500	not_specified|not_provided|Gastrointestinal_stromal_tumor|Piebaldism|Mastocytosis	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human_Phenotype_Ontology:HP:0001044,Human_Phenotype_Ontology:HP:0007544,MONDO:MONDO:0008244,MedGen:C0080024,OMIM:172800,Orphanet:2884|Human_Phenotype_Ontology:HP:0100495,MONDO:MONDO:0007950,MedGen:C0024899,Orphanet:98292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0.00219649	0.0042	0.0011	0.0011	0	0.0013	0.0064	0.0036	0.0025	0.0040491	626	154602	rs140909964	0.0055	0.0055	0.0055	0.0054	0.0066	0.0054	0.0053	0.0064	0.0064	0.0008	0.0015	3.829e-05	2.52e-05	0.0016	0.0021	0.0066	0.0032	0.0033	0.0035	0.0035	0.0037	0.0033	0.0062	0.0032	0.0031	0.0057	0.0055	0.0011	0	0.0027	0	0	0.0005	0	0.0062	0.0014	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1693.98	39	chr4	54658001	.	T	A	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=854;ExcessHet=0.0000;FS=0.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=1.40;SOR=0.600	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1708,0,1600	20	0	1	0
chr4	112657309	112657309	A	T	exonic	LARP7	.	nonsynonymous SNV	LARP7:NM_001370974:exon13:c.A1770T:p.R590S	Alazami syndrome, Autosomal recessive	.	146	1375	1	0	0	1	0.000363504	.	.	1896016	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.969	D	0.691	P	0.000	D	1.000	D	0.805	L	1.95	T	-1.016	T	0.035	T	0.783	3.983	20.4	-5.05	-0.411	-0.042	3.581	0.263	0.00958926074955	7.7e-05	0.000199681	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs374867509	6.019e-05	6.296e-05	2.924e-05	9.148e-05	0.0008	4.989e-05	4.6e-05	0.0007	0.0006	0	0	0	0	0	0	1.374e-05	5.078e-05	0.0008	4.616e-05	4.6e-05	1.288e-05	8.103e-05	0.0010	2.116e-05	1.531e-05	0.0004	0.0003	4.84e-05	0	0	0	0	0	0	0	0	0.0010	0.004	0.65419	D	0.013	0.63109	D	0.969	0.56768	D	0.691	0.53831	P	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	0.805	0.20218	L	1.95	0.22678	T	-2.58	0.55662	D	0.605	0.62781	-1.0156	0.25143	T	0.035	0.15247	T	10	0.07439554	0.11365	T	0.009589	0.25085	T	0.263	0.57612	0.37	0.38013	0.344251166708	0.34027	0.5117142340689719	0.51093	0.309992911721	0.33310	0.552654027939	0.46231	T	.	.	.	-0.259369	0.12973	T	-0.224603	0.52293	T	0.318342119455338	0.25754	T	0.847515	0.52873	T	0.4683241	0.65188	0.2511518	0.50721	0.43413705	0.63023	0.20444964	0.44569	-7.725	0.59181	D	0.5057288860391432	0.58023	0.748	0.76179	P	.;.;.	.;.;.	3.046352	0.40863	21.2	0.99129562604261667	0.53222	0.59687	0.30984	D	AEFBI	0.118915	0.23232	N	-0.38620518094572	0.25960	1.413178	-0.480764548168716	0.22684	1.233316	0.23533555404089	0.18512	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.42	-5.05	0.02733	0.032000	0.13620	-0.203000	0.10926	-0.065000	0.16512	0.726000	0.28882	0.002000	0.18203	0.990000	0.65344	0.3755:0.1618:0.3701:0.0925	3.581	0.07502	772	0.48957	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	575.98	33	chr4	112657309	.	A	T	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=792;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.29;ReadPosRankSum=0.392;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,26:62:99:590,0,961	20	0	1	0
chr4	154606073	154606073	T	C	intronic	FGG	.	.	.	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	31410	not_specified|not_provided|FIBRINOGEN_PARIS_1|Congenital_afibrinogenemia|FGG-related_disorder	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0073383	191	26028	rs2066862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0053	0.0059	0.0047	0.0089	0.0050	0.0049	0.0083	0.0081	0.0016	0.0055	0.0035	0.0092	0.0002	0.0021	0.0068	0.0089	0.0080	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	490.35	16	chr4	154606073	.	T	C	490.35	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=281;ExcessHet=0.1072;FS=2.814;InbreedingCoeff=-0.0575;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.469;SOR=0.283	GT:AD:DP:GQ:PL	0/1:12,11:23:99:256,0,298	19	0	2	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	YES	0	1450	67	5	0	77	0.025865	.	.	226823	Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|Leigh_syndrome|not_provided	MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.1429	8274.01	37	chr5	236472	.	G	T	8274.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.537e+00;DP=1046;ExcessHet=0.1217;FS=0.570;InbreedingCoeff=0.2222;MLEAC=6;MLEAF=0.143;MQ=59.42;MQRankSum=1.00;QD=18.14;ReadPosRankSum=-5.390e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1059,0,969	16	1	4	0
chr5	32786307	32786307	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001364460:exon7:c.C817T:p.R273W	.	.	426	1093	3	0	0	3	0.00137049	.	.	1570732	Inborn_genetic_diseases|NPR3-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	0.805	L	0.75	T	-0.636	T	0.205	T	0.922	3.773	19.16	4.2	1.583	1.803	17.039	0.355	0.0615222187363	0.0006	0.000399361	0.0011	0	0.0010	0.0002	0.0029	0.0013	0.0032	0.0009	0.0008991	139	154602	rs142228984	0.0012	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0012	0.0001	0.0004	0	2.543e-05	0.0021	0.0003	0.0013	0.0013	0.0014	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0013	0.0011	0.0001	0	0.0002	0	0	0.0018	0	0.0014	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	2.045	0.56016	M	0.75	0.50192	T	-1.91	0.44471	N	0.699	0.83371	-0.6361	0.63312	T	0.205	0.56279	T	10	0.051540524	0.05051	T	0.061522	0.68359	D	0.355	0.67600	.	.	0.904445790692	0.90349	0.7448816576513672	0.74434	.	.	0.79996573925	0.81957	T	0.098695	0.65041	T	-0.0835324	0.39138	T	0.101068	0.76978	D	0.0681145236514431	0.08384	T	0.977602	0.92086	D	0.40438634	0.61035	0.32918283	0.58800	0.40438634	0.61035	0.32918283	0.58799	-6.689	0.68382	T	.	.	0.343	0.64159	A	.;.;.;.	.;.;.;.	4.721183	0.75951	26.4	0.99922296390473664	0.98852	0.72224	0.35359	D	AEFGBHCIJ	0.743746	0.68695	D	0.450440138550749	0.64226	4.672654	0.469376118130757	0.65969	4.891647	0.999999016305163	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.2	0.48814	2.331000	0.43552	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.997000	0.79791	0.2425:0.7575:0.0:0.0	17.039	0.86359	610	0.67008	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2346.11	37	chr5	32786307	.	C	T	2346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=949;ExcessHet=0.1072;FS=0.547;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.321;SOR=0.647	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1293,0,930	19	0	2	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:11,2,20,0,0:35:99:.:.:558,506,1010,0,284,265,586,1021,359,1096,586,1021,359,1096,1096	4	0	0	0
chr5	91072567	91072567	A	G	exonic	ADGRV1	.	synonymous SNV	ADGRV1:NM_032119:exon86:c.A18273G:p.A6091A,	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	.	0	1499	20	3	0	26	0.00859788	.	.	106479	Febrile_seizures,_familial,_4|Usher_syndrome_type_2C|not_specified|not_provided	MONDO:MONDO:0011443,MedGen:C1858493,OMIM:604352|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00359425	0.0042	0.0006	0.0016	0	0.0083	0.0038	0.0045	0.0105	0.0040362	624	154602	rs137853918	0.0040	0.0040	0.0038	0.0043	0.0091	0.0039	0.0039	0.0085	0.0083	0.0008	0.0019	0.0013	2.519e-05	0.0069	0.0023	0.0039	0.0032	0.0091	0.0033	0.0033	0.0028	0.0038	0.0070	0.0031	0.0030	0.0052	0.0045	0.0007	0	0.0042	0.0009	0	0.0088	0.0034	0.0040	0.0033	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.04762	2576.11	37	chr5	91072567	.	A	G	2576.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.750e-01;DP=949;ExcessHet=0.1072;FS=1.130;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=-5.370e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1150,0,1559	19	0	2	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1347,0,1776	5	5	11	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	not_specified|PPP2R2B-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	21129.44	37	chr5	146878727	.	A	AGCTGCTGCTGCTGCTGCTGCT,AGCT,AGCTGCTGCTGCT,AGCTGCTGCTGCTGCT,AGCTGCT,AGCTGCTGCT	21129.44	.	AC=6,1,4,3,1,7;AF=0.143,0.024,0.095,0.071,0.024,0.167;AN=42;BaseQRankSum=-5.940e-01;DP=1307;ExcessHet=0.2144;FS=0.000;InbreedingCoeff=0.2364;MLEAC=6,1,4,3,1,7;MLEAF=0.143,0.024,0.095,0.071,0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=31.92;ReadPosRankSum=0.364;SOR=0.702	GT:AD:DP:GQ:PL	5/6:0,0,0,0,0,27,29:58:99:2634,2543,2505,2543,2505,2505,2543,2505,2505,2505,2543,2505,2505,2505,2505,1178,1177,1177,1177,1177,1032,1142,1110,1110,1110,1110,0,1003	6	2	1	0
chr5	148994601	148994608	TGGTTGGT	-	UTR3	SH3TC2	NM_024577:c.*10110_*10103delACCAACCA	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	297905	Mononeuropathy_of_the_Median_Nerve|not_provided|Charcot-Marie-Tooth_disease_type_4	MedGen:C3150597|MedGen:CN517202|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs564746895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3199	0.3214	0.3188	0.3210	0.4166	0.3174	0.3164	0.4111	0.4089	0.4166	0.2224	0.2920	0.3053	0.3088	0.2771	0.3310	0.2789	0.3146	0.3191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	294.12	77	chr5	148994600	.	ATGGTTGGT	A	294.12	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.930;DP=77;ExcessHet=0.0000;FS=4.530;MLEAC=7;MLEAF=0.875;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-2.130e-01;SOR=1.565	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	2	1	1	17
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R	.	.	415	588	404	115	0	634	0.350276	.	.	31365	not_specified|See_cases|Cancer_progression_and_tumor_cell_motility|FGFR4-related_disorder	MedGen:CN169374|.|MedGen:C4016099|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.7	P	0.006	N	0.000	P	1.1	L	-1.67	D	-0.884	T	0.000	T	0.707	3.743	19.01	4.29	2.233	4.235	11.212	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	15721.78	33	chr5	177093242	.	G	A	15721.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.25;DP=1298;ExcessHet=0.2067;FS=0.548;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=18.92;ReadPosRankSum=0.173;SOR=0.632	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1415,0,1055	13	2	6	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	5	101	508	907	1	2323	0.919968	.	.	54134	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	1/1:0,478:478:99:16195,1435,0	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/1:28,25,0,0,0,0:55:99:1107,0,1382,1227,1448,2725,1227,1448,2725,2725,1227,1448,2725,2725,2725,1227,1448,2725,2725,2725,2725	9	0	3	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D	Hemochromatosis, Autosomal recessive	YES	2	1194	302	24	0	350	0.127831	.	.	15049	Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided|Cardiomyopathy|Bronze_diabetes|See_cases|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|Familial_porphyria_cutanea_tarda|Transferrin_serum_level_quantitative_trait_locus_2|Cystic_fibrosis|not_specified	MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|.|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:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance|other	.	.	.	.	.	.	.	.	0	D	0.991	D	0.883	P	0.347	N	1.000	P	1.89	L	5.87	T	0.103	D	0.631	D	0.62	1.939	12.44	3.51	0.785	0.952	6.685	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	1	1	1	0	0	0	0	0	0	0	0	1	0	0.07143	5313.68	36	chr6	26090951	.	C	G	5313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.058;DP=1052;ExcessHet=0.3300;FS=3.213;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.063;SOR=0.744	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1965,0,1835	18	0	3	0
chr6	29672639	29672639	G	C	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.C1256G:p.T419S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	306735	ZFP57-related_disorder|Inborn_genetic_diseases|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.001	B	0.001	B	0.591	N	1.000	N	0.06	N	3.73	T	-0.917	T	0.004	T	0.108	-0.502	1.701	2.1	0.590	0.539	5.460	0.024	0.00190118755506	0.0017	0.00139776	0.0017	0.0012	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015847	245	154602	rs184974475	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0020	0.0022	0.0002	0.0013	9.56e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0021	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	0.712	0.06184	T	0.723	0.05327	T	0.001	0.07471	B	0.001	0.04355	B	0.590743	0.05590	N	1.274180	1	0.08975	N	.	.	.	3.5	0.05014	T	0.0	0.08033	N	0.101	0.08366	-0.9171	0.45945	T	0.004	0.01192	T	10	0.0045357347	0.00094	T	0.001901	0.03351	T	0.024	0.04979	0.402	0.43245	0.148003135375	0.14442	0.03766993490955309	0.03712	0.378906110955	0.39296	0.229772150517	0.01951	T	0.03042	0.21569	T	-0.69835	0.00037	T	-0.780834	0.02428	T	0.000544253170481843	0.00005	T	0.430757	0.11694	T	0.03004531	0.02601	0.035159912	0.02715	0.029300796	0.02403	0.038980663	0.03888	-2.821	0.08378	T	.	.	0.118	0.33504	B	.;.;.	.;.;.	0.037726	0.04550	1.238	0.45622253194593004	0.03594	0.07236	0.13259	N	AEFDBI	0.121750	0.23657	N	-1.02811104708398	0.08024	0.3747867	-1.02724837877177	0.09188	0.4557328	0.971970142574129	0.29332	0.549168	0.22868	0	0.627178	0.54094	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	3.9	2.1	0.26226	0.434000	0.21212	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1118:0.2044:0.6839:0.0	5.460	0.15907	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1150.98	38	chr6	29672639	.	G	C	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.501e+00;DP=793;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-1.619e+00;SOR=0.593	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1165,0,1431	20	0	1	0
chr6	29673078	29673078	C	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G817C:p.A273P	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895739	not_provided|ZFP57-related_disorder|Diabetes_mellitus,_transient_neonatal,_1|Monogenic_diabetes	MedGen:C3661900|.|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.463	N	1.000	N	-0.385	N	3.62	T	-0.897	T	0.004	T	0.067	0.581	7.136	-0.054	-0.257	0.147	13.807	0.032	0.00624814265874	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0016106	249	154602	rs200537697	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.558e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0043	0.0002	0.373	0.14449	T	0.6	0.15255	T	0.0	0.02946	B	0.0	0.01387	B	0.463105	0.04882	N	1.433100	1	0.08975	N	.	.	.	3.39	0.05710	T	-0.32	0.13035	N	0.059	0.03069	-0.8972	0.48273	T	0.004	0.01125	T	10	0.0032929778	0.00057	T	0.006248	0.16406	T	0.032	0.07718	.	.	0.115124310173	0.11017	0.14650678569100284	0.14572	0.545258417384	0.51564	0.20549055934	0.00634	T	0.031246	0.21951	T	-0.708877	0.00032	T	-0.795333	0.02022	T	0.00105308816652138	0.00010	T	0.236776	0.03305	T	0.07126519	0.15763	0.1726065	0.39527	0.07834166	0.17834	0.17184934	0.39397	-5.776	0.45316	T	.	.	0.081	0.08368	B	.;.;.	.;.;.	0.054010	0.04668	1.317	0.75036840081019685	0.10921	0.00187	0.01088	N	AEFBI	0.052410	0.09352	N	-1.33677804670419	0.03264	0.145503	-1.32734372575096	0.04081	0.1917156	0.772892689899756	0.23703	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.0	-0.0543	0.13145	0.003000	0.12984	.	.	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.732:0.163:0.105	13.807	0.62729	856	0.34373	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1328.98	38	chr6	29673078	.	C	G	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.92;DP=801;ExcessHet=0.0000;FS=2.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.450e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:62,42:104:99:1343,0,1694	20	0	1	0
chr6	29673579	29673579	A	G	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.T316C:p.Y106H	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	895744	Monogenic_diabetes|Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Diabetes_mellitus,_transient_neonatal,_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.955	N	1.000	N	-0.575	N	0.87	T	-0.978	T	0.013	T	0.035	-2.196	0.005	0.433	-0.146	-0.662	2.620	0.061	0.00282120314739	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs146835830	0.0013	0.0013	0.0012	0.0013	0.0118	0.0012	0.0012	0.0095	0.0087	0.0021	0.0022	0.0002	0.0013	9.559e-05	0.0118	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0018	0.0033	0.0002	0.666	0.06204	T	0.662	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	0.954987	0.08262	N	0.972197	1	0.08975	N	.	.	.	0.87	0.46412	T	2.11	0.00435	N	0.138	0.14480	-0.9776	0.35548	T	0.013	0.04985	T	10	0.0046658516	0.00098	T	0.002821	0.05898	T	0.061	0.17616	.	.	0.162503812791	0.15892	0.12665747826524515	0.12591	0.545626151938	0.51587	0.236916989088	0.02519	T	0.027547	0.20149	T	-0.716868	0.00029	T	-0.807123	0.01731	T	0.00261265143888011	0.00027	T	0.00640936	0.00046	T	0.02757644	0.01969	0.044972137	0.05946	0.03679415	0.04594	0.048826136	0.07332	-1.516	0.03367	T	.	.	0.185	0.44135	B	.;.;.	.;.;.	-0.126846	0.03484	0.652	0.314094566136839	0.01768	0.00543	0.02498	N	AEFBI	0.057174	0.10630	N	-1.38297639332757	0.02797	0.1240477	-1.37971277985738	0.03469	0.1618712	0.797342953620268	0.24123	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.42	0.433	0.15747	-3.472000	0.00511	.	.	-0.103000	0.15852	0.000000	0.06391	0.044000	0.21668	0.027000	0.12703	0.3184:0.0:0.3256:0.3559	2.620	0.04616	856	0.34373	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1491.98	42	chr6	29673579	.	A	G	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.375e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.020e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1506,0,1588	20	0	1	0
chr6	29673636	29673636	T	A	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.A259T:p.T87S	Diabetes mellitus, transient neonatal, 1	.	0	1504	17	1	0	19	0.00627684	.	.	307058	Inborn_genetic_diseases|ZFP57-related_disorder|not_provided|Monogenic_diabetes|Diabetes_mellitus,_transient_neonatal,_1	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.062	N	1.000	N	-0.345	N	3.76	T	-0.930	T	0.002	T	0.013	-0.915	0.407	0.312	-0.212	-1.115	3.622	0.007	0.00204713278088	0.0019	0.00139776	0.0017	0.0014	0.0017	0.0038	0.0002	0.0021	0.0012	0.0004	0.0015977	247	154602	rs201703858	0.0013	0.0013	0.0012	0.0013	0.0116	0.0012	0.0012	0.0094	0.0086	0.0021	0.0022	0.0002	0.0013	9.56e-05	0.0116	0.0013	0.0017	0.0003	0.0022	0.0022	0.0020	0.0024	0.0064	0.0020	0.0019	0.0054	0.0050	0.0022	0	0.0064	0.0003	0.0006	0.0004	0.0136	0.0019	0.0043	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.062137	0.22119	N	0.234003	1	0.08975	N	.	.	.	3.5	0.05014	T	0.35	0.03955	N	0.022	0.00372	-0.9298	0.44168	T	0.002	0.00676	T	10	0.0040598214	0.00079	T	0.002047	0.03748	T	0.007	0.00512	0.279	0.23323	0.128392430309	0.12331	0.030834241280587222	0.03032	0.374455605412	0.38907	0.326435446739	0.14395	T	.	.	.	-0.784202	0.00010	T	-0.903844	0.00476	T	0.000298600996568799	0.00002	T	0.0920908	0.00681	T	.	.	.	.	.	.	.	.	-2.755	0.07874	T	.	.	0.103	0.18289	B	.;.	.;.	-0.952589	0.00841	0.029	0.64164633450801511	0.07419	0.00226	0.01270	N	AEFBI	0.038722	0.05520	N	-1.42609844258968	0.02411	0.1064481	-1.43819827313715	0.02879	0.1332465	0.742830534586455	0.23239	0.516011	0.20929	0	0.610034	0.51514	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	2.98	0.312	0.15082	-2.147000	0.01379	.	.	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3996:0.204:0.0:0.3963	3.622	0.07640	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1390.98	42	chr6	29673636	.	T	A	1390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=818;ExcessHet=0.0000;FS=3.505;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.73;SOR=0.902	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1405,0,1481	20	0	1	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	196	1075	234	17	0	268	0.110835	.	.	188199	not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.973	D	0.000	D	1.000	D	2.32	M	-2.09	D	0.625	D	0.742	D	0.104	4.721	26.3	4.69	2.454	4.702	16.619	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2710.32	28	chr6	32041884	.	C	T	2710.32	.	AC=9;AF=0.225;AN=40;BaseQRankSum=2.92;DP=441;ExcessHet=0.9430;FS=2.573;InbreedingCoeff=-0.0229;MLEAC=9;MLEAF=0.225;MQ=30.71;MQRankSum=-2.210e+00;QD=10.67;ReadPosRankSum=0.229;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,15:40:99:.:.:353,0,699	12	1	7	1
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:47,0,21:68:99:0|1:80007990_G_A:321,459,2144,0,1684,1628:80007990	1	0	9	7
chr6	80007992	80007992	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G323C:p.S108T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.986	D	0.852	P	0.000	D	0.593	D	1.955	M	-2.63	D	0.046	D	0.635	D	0.39	3.677	18.69	3.86	0.842	5.340	8.738	0.403	0.0853925880234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1707	0.2059	0.1863	0.1558	0.2162	0.1701	0.1698	0.2154	0.2150	0.1392	0.0055	0.0504	0.0230	0.0017	0.0737	0.2162	0.1283	0.0500	0	3.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.144	0.59732	T	0.966	0.56202	D	0.631	0.51788	P	0.000000	0.84330	D	0.071194	0.593197	0.32474	D	2.595	0.75868	M	-2.63	0.90083	D	-1.03	0.49187	N	0.442	0.48042	0.046	0.83166	D	0.635	0.87219	D	10	0.3497452	0.51861	T	0.085393	0.74523	D	0.403	0.71636	0.228	0.15406	0.781371246216	0.77935	0.3376395449906995	0.33676	0.281122348813	0.30588	0.551896691322	0.46125	T	0.092565	0.57262	T	0.136052	0.67947	D	-0.0423466	0.67543	D	0.917783379554749	0.57577	D	0.631037	0.24617	T	0.7190072	0.79106	0.41570723	0.65677	0.7190072	0.79108	0.41570723	0.65677	-6.628	0.51765	T	.	.	0.218	0.44758	B	.;.;.;.;.;.	.;.;.;.;.;.	4.204753	0.63475	24.6	0.99575890361854102	0.72682	0.97332	0.74083	D	AEFBI	0.519272	0.54462	D	0.42824476472478	0.62980	4.523298	0.423839017229321	0.63052	4.531729	0.99999023762309	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	3.86	0.43689	5.209000	0.65041	8.593000	0.77695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1406:0.1265:0.7329:0.0	8.738	0.33699	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,21,12:68:99:1|0:80007990_G_A:888,0,1421,300,926,1290:80007990	2	0	13	4
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,19,0,12:66:99:1|0:80007990_G_A:832,0,1429,724,1344,1954,259,929,1380,1254:80007990	1	0	7	8
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.979	D	0.000	D	1.000	D	3.675	H	-6.06	D	1.005	D	0.990	D	0.981	5.163	32	5.5	2.585	7.776	19.394	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	204.13	35	chr6	121447059	.	C	T	204.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.840e+00;DP=1087;ExcessHet=0.1072;FS=47.181;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=56.94;MQRankSum=-1.301e+00;QD=0.88;ReadPosRankSum=0.762;SOR=7.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,15:118:99:0|1:121447059_C_T:208,0,3969:121447059	19	0	2	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,15:118:99:0|1:121447059_C_T:208,0,3969:121447059	17	0	3	1
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	402	432	251	308	129	996	0.500867	.	.	298899	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:10,0,13,0:23:99:.:.:393,423,716,0,293,253,423,716,293,716	3	0	1	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/2:33,1,4,4,0,0:42:0:278,345,1077,0,802,1313,0,802,1256,1314,371,1172,1346,1346,1716,371,1172,1346,1346,1716,1716	7	0	0	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/2:33,1,4,4,0,0:42:0:278,345,1077,0,802,1313,0,802,1256,1314,371,1172,1346,1346,1716,371,1172,1346,1346,1716,1716	7	0	0	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:52,5,34:91:99:.:.:1662,920,2736,0,1613,3118	1	1	3	2
chr7	5992008	5992008	T	C	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.A635G:p.Y212C	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	50161	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|PMS2-related_disorder|Lynch_syndrome_4|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:CN169374|MeSH:D003123,MedGen:C0009405	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.981	D	0.000	D	1.000	D	2.875	M	-1.99	D	0.697	D	0.774	D	0.877	3.207	16.74	5.4	2.045	7.667	15.412	0.832	0.0454776446971	0.0004	0.000199681	0.0004	0	0.0005	0	0	0.0004	0.0034	0.0003	0.0002846	44	154602	rs139438201	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0071	0	0	0.0003	4.727e-05	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.846e-05	1.858e-05	4.811e-05	0	0.0001	0.0055	0	0	0	7.349e-05	0.0009	0	0.024	0.61437	D	0.06	0.45744	T	1.0	0.90584	D	0.981	0.75168	D	0.000055	0.53742	D	0.130172	1	0.81001	D	3.365	0.91266	M	-1.99	0.85320	D	-7.1	0.93974	D	0.94	0.94668	0.697	0.93141	D	0.774	0.92325	D	10	0.04951796	0.04552	T	0.045478	0.61998	D	0.832	0.94691	.	.	0.923305348147	0.92252	0.630275955280824	0.62961	0.293512613635	0.31773	0.763504803181	0.76452	T	0.639538	0.88928	D	0.159248	0.70130	D	0.327231	0.89396	D	0.206025939645237	0.20744	T	0.961304	0.89491	D	0.828623	0.85807	0.7100386	0.82897	0.91380346	0.92653	0.7608746	0.85872	-14.104	0.93389	D	0.6167088525677732	0.68471	0.335	0.62874	B	.;.;.;.;.	.;.;.;.;.	5.159714	0.86445	28.9	0.99658063480598968	0.77757	0.99609	0.97952	D	AEFGBI	0.892392	0.82928	D	0.497969895187631	0.66970	5.019781	0.418689667694996	0.62730	4.493386	0.999995368215801	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	7.674000	0.83146	7.756000	0.68219	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.412	0.74652	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1955.98	34	chr7	5992008	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=898;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=1.03;QD=12.15;ReadPosRankSum=0.303;SOR=0.934	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1970,0,1904	20	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,141:141:99:1|1:21867834_G_GT:6301,424,0:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	0/2:10,0,6:16:92:92,122,327,0,206,188	0	1	3	1
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:2,5,65:72:76:.:.:1813,1655,1744,160,76,0	1	0	0	0
chr7	103565380	103565380	G	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon34:c.C5108G:p.P1703R	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	135571	Norman-Roberts_syndrome|not_provided|not_specified|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.67	M	1.99	T	-0.865	T	0.137	T	0.883	4.740	26.5	6.02	2.865	9.139	20.541	0.481	0.0567467834204	0.0037	0.00139776	0.0033	0.0007	0.0012	0	0.0068	0.0047	0.0066	0.0009	0.0032018	495	154602	rs2229860	0.0046	0.0046	0.0046	0.0045	0.0052	0.0045	0.0044	0.0051	0.0051	0.0007	0.0018	0.0012	0	0.0068	0.0003	0.0052	0.0039	0.0011	0.0035	0.0035	0.0035	0.0035	0.0057	0.0033	0.0032	0.0052	0.0050	0.0007	0.0011	0.0029	0.0012	0	0.0060	0	0.0057	0.0009	0.0006	0.004	0.65419	D	0.0	0.92824	D	0.999	0.90584	D	0.996	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	1.99	0.21666	T	-4.1	0.74900	D	0.941	0.94786	-0.8654	0.50871	T	0.137	0.45394	T	10	0.023003519	0.00590	T	0.056747	0.66716	D	0.481	0.77142	.	.	0.550389771131	0.54696	0.8173887430551641	0.81695	0.712895479657	0.61788	0.643720090389	0.59093	T	0.541573	0.84313	D	-0.102347	0.36036	T	0.0863241	0.76000	D	0.0299260665632957	0.01977	T	0.936606	0.76191	D	0.46495426	0.64979	0.57886153	0.75594	0.5911003	0.72212	0.6132332	0.77495	-14.572	0.94767	D	0.6050620153603461	0.67228	0.935	0.85485	P	.;.;.	.;.;.	4.810292	0.78248	26.9	0.99868175228066525	0.94637	0.99232	0.93179	D	AEFGBI	0.958308	0.97800	D	0.995813412088824	0.95613	13.79061	0.97736553388868	0.98140	17.52007	0.999999983141739	0.74766	0.536767	0.22168	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	9.262000	0.94771	11.889000	0.99041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.541	0.99263	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3514.98	33	chr7	103565380	.	G	C	3514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.557e+00;DP=1106;ExcessHet=0.0000;FS=1.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.411;SOR=0.589	GT:AD:DP:GQ:PL	0/1:123,149:272:99:3529,0,3151	20	0	1	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	1/1:0,54,0,0,0,0:59:99:2448,167,0,2359,169,2317,2359,169,2317,2317,2359,169,2317,2317,2317,2359,169,2317,2317,2317,2317	0	9	5	0
chr7	107940269	107940269	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon25:c.C3481T:p.R1161C,	Lissencephaly 5, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	428654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	3.735	H	-0.04	T	0.357	D	0.567	D	0.81	4.656	25.6	5.4	2.814	5.023	15.034	0.549	0.162162685987	7.7e-05	0.000199681	0.0005	9.615e-05	0.0002	0	0	0.0004	0.0011	0.0020	0.0004528	70	154602	rs146018013	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0015	2.987e-05	0.0001	0.0018	0	0	0.0026	8.903e-05	0.0005	0.0019	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	7.217e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	4.125	0.97446	H	-0.04	0.63240	T	-6.5	0.91609	D	0.688	0.69913	0.357	0.88449	D	0.567	0.84308	D	9	0.36260283	0.52851	T	0.162163	0.84179	D	0.549	0.81310	.	.	0.819438898917	0.81773	0.8339373263145492	0.83352	0.545644546842	0.51589	0.510067224503	0.40232	T	0.369082	0.73386	T	-0.0771195	0.40180	T	0.109183	0.77519	D	0.582041501998901	0.35697	D	0.973003	0.90263	D	0.53498566	0.69114	0.49559188	0.70829	0.4742811	0.65553	0.48983976	0.70484	-11.082	0.80106	D	.	.	0.283	0.54492	B	.;.	.;.	5.865314	0.93873	33	0.99944533827279425	0.99868	0.90911	0.52495	D	AEFBHCI	0.786360	0.71646	D	0.936951981882765	0.93450	12.04674	0.8533853885205	0.93212	11.89589	0.999999999992788	0.74766	0.730579	0.87903	0	0.546412	0.12157	0	0.697927	0.64325	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	5.313000	0.65584	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.034	0.71390	727	0.54702	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2417.98	33	chr7	107940269	.	G	A	2417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.670e-01;DP=870;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.338e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/1:95,90:185:99:2432,0,2542	20	0	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|not_specified|Childhood_apraxia_of_speech	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	7359.72	33	chr7	114663436	.	A	AT	7359.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.700e-02;DP=979;ExcessHet=0.0097;FS=0.561;InbreedingCoeff=0.4750;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-3.520e-01;SOR=0.771	GT:AD:DP:GQ:PL	1/1:1,66:69:99:1805,158,0	14	3	4	0
chr7	114690130	114690131	TT	-	UTR3	FOXP2	NM_148898:c.*204_*205delTT;NM_001172766:c.*204_*205delTT;NM_014491:c.*204_*205delTT;NM_148900:c.*204_*205delTT	.	.	Speech-language disorder-1, Autosomal dominant	.	1263	223	17	6	13	42	0.0610526	.	.	309389	not_provided|Childhood_apraxia_of_speech	MedGen:CN517202|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2943	0.1519	0.2660	0.2459	0.5	0.3062	0.3085	0.2950	0.0001153	3	26028	rs1491483744	0.3016	0.2890	0.3046	0.2993	0.3328	0.2999	0.2992	0.3305	0.3295	0.1122	0.2560	0.2335	0.1858	0.3346	0.1654	0.3328	0.2969	0.2722	0.3343	0.3286	0.3380	0.3302	0.4557	0.3316	0.3305	0.4512	0.4494	0.1210	0.4123	0.3255	0.2964	0.1699	0.4509	0.2406	0.4557	0.3113	0.3274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	725.1	5	chr7	114690129	.	CTT	C	725.1	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-5.400e-01;DP=105;ExcessHet=0.0000;FS=2.417;InbreedingCoeff=0.2405;MLEAC=5;MLEAF=0.227;MQ=59.94;MQRankSum=-8.250e-01;QD=16.11;ReadPosRankSum=-2.330e-01;SOR=1.058	GT:AD:DP:GQ:PL	1/1:0,4:4:12:134,12,0	9	1	1	10
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	YES	1	1481	40	0	0	40	0.0133245	.	.	47455	not_provided|CFTR-related_disorder|not_specified|Cystic_fibrosis	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.29	B	0.375	B	0.000	D	1.000	D	0.835	L	-2.45	D	0.195	D	0.680	D	0.679	4.594	25.0	5.73	2.313	7.655	16.314	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	933.98	33	chr7	117531068	.	T	C	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=797;ExcessHet=0.0000;FS=0.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=1.92;SOR=0.607	GT:AD:DP:GQ:PL	0/1:66,39:105:99:948,0,1685	20	0	1	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	2137883	Inborn_genetic_diseases|not_provided|PODXL-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2593.39	62	chr7	131505863	.	C	T	2593.39	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.173e+00;DP=1634;ExcessHet=17.4423;FS=182.300;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=0.956;SOR=11.937	GT:AD:DP:GQ:PL	0/1:52,31:83:99:172,0,859	6	0	15	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1184	338	0	0	338	0.124908	0	0.172	933718	not_provided|Hereditary_pancreatitis	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.090	N	0.999	N	0.305	N	-3.18	D	-0.656	T	0.520	D	0.084	-2.546	0.003	2.43	0.685	1.840	11.878	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	6566.3	235	chr7	142749524	.	C	G	6566.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=4.38;DP=4162;ExcessHet=7.7275;FS=14.002;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.17;MQRankSum=-1.853e+01;QD=1.81;ReadPosRankSum=-3.398e+00;SOR=2.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:301,52:355:99:.:.:1354,0,12468	10	0	11	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,64:182:99:.:.:2219,0,3194	6	0	15	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1242	280	0	0	280	0.101302	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	0.017	N	1.000	A	.	.	.	.	.	.	.	.	.	2.152	13.15	2.59	0.757	0.450	12.188	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.3333	11579.59	103	chr7	142750680	.	C	T	11579.59	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.980e-01;DP=2593;ExcessHet=14.4320;FS=1.494;InbreedingCoeff=-0.5074;MLEAC=14;MLEAF=0.333;MQ=58.14;MQRankSum=-1.043e+01;QD=5.26;ReadPosRankSum=-1.991e+00;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,51:186:99:0|1:142750672_T_A:1700,0,5491:142750672	7	0	14	0
chr7	142750700	142750700	C	T	exonic	PRSS1	.	synonymous SNV	PRSS1:NM_002769:exon2:c.C186T:p.G62G,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1392	130	0	0	130	0.0446122	.	.	1838992	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0277	0.0571	0.0080	0.0036	0.04	0.0237	0.0368	0.0486	0.0001552	24	154602	rs199713773	0.0059	0.0919	0.0046	0.0071	0.0117	0.0057	0.0057	0.0106	0.0101	0.0117	0.0076	0.0095	0.0040	0.0184	0.0041	0.0054	0.0091	0.0016	0.1047	0.2848	0.1054	0.1040	0.1897	0.1027	0.1019	0.1841	0.1818	0.1897	0.0930	0.1003	0.0786	0.0135	0.1257	0.0417	0.0817	0.0946	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2619	5354.16	84	chr7	142750700	.	C	T	5354.16	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.656;DP=1892;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3489;MLEAC=11;MLEAF=0.262;MQ=58.03;MQRankSum=-1.138e+01;QD=3.65;ReadPosRankSum=-2.976e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,31:148:99:0|1:142750691_A_G:941,0,4773:142750691	10	0	11	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.562	11.18	3.49	1.879	7.689	14.397	.	.	.	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1318.55	67	chr7	142750715	.	G	A	1318.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.58;DP=1579;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.15;MQRankSum=-1.023e+01;QD=1.75;ReadPosRankSum=-3.514e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:97,15:112:99:239,0,2822	14	0	7	0
chr7	142752950	142752950	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon5:c.A674G:p.K225R,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1276	246	0	0	246	0.0879199	.	.	489825	not_specified|not_provided|Hereditary_pancreatitis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.002	B	0.437	N	1.000	N	0.485	N	-2.38	D	-0.775	T	0.356	T	0.205	-0.839	0.576	-4.1	-0.871	0.195	4.484	0.241	0.0563907113932	.	0.000199681	4.12e-05	9.638e-05	0	0.0002	0	0	0	0.0001	0.0026126	68	26028	rs541223359	0.0001	0.0444	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	8.039e-05	0.0001	0.0001	0.0003	0.0002	0.0001	0.0002	0.0003	0.0625	0.2471	0.0635	0.0614	0.1148	0.0610	0.0604	0.1107	0.1090	0.1148	0.0323	0.0683	0.0422	0.0110	0.0760	0.0427	0.0445	0.0571	0.0198	0.48	0.09572	T	0.352	0.17372	T	0.0	0.02946	B	0.002	0.06944	B	0.436750	0.12679	N	0.782790	0.999998	0.08975	N	0.355	0.11969	N	-2.38	0.88298	D	-1.0	0.26422	N	0.087	0.07125	-0.7748	0.56592	T	0.356	0.71850	T	10	0.07178062	0.10627	T	0.056391	0.66588	D	0.241	0.54641	.	.	0.459642846412	0.45589	0.5199644332738709	0.51919	0.132481952341	0.14936	0.202874571085	0.00545	T	0.394159	0.75337	T	-0.0844771	0.38985	T	-0.359122	0.38153	T	0.00933494863009668	0.00119	T	.	.	.	0.111516565	0.26353	0.10829246	0.26085	0.111516565	0.26353	0.10829246	0.26084	-3.264	0.13277	T	.	.	0.104	0.18746	B	.;.;.	.;.;.	-1.224358	0.00507	0.011	0.38899255705893293	0.02652	0.04907	0.10657	N	AEFBI	0.190157	0.31739	N	-1.77807229907533	0.00601	0.02589842	-1.78133773023897	0.00821	0.03665607	0.00183854746915247	0.08930	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.18	-4.1	0.03674	0.006000	0.13051	.	.	-2.707000	0.00208	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.6101:0.0:0.2543:0.1356	4.484	0.11193	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2761.87	201	chr7	142752950	.	A	G	2761.87	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.46;DP=4098;ExcessHet=3.5521;FS=4.793;InbreedingCoeff=-0.2347;MLEAC=8;MLEAF=0.190;MQ=58.89;MQRankSum=-1.419e+01;QD=1.19;ReadPosRankSum=-4.179e+00;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,25:292:99:0|1:142752947_A_G:247,0,11063:142752947	13	0	8	0
chr7	151781320	151781320	C	T	exonic	PRKAG2	.	nonsynonymous SNV	PRKAG2:NM_001040633:exon3:c.G166A:p.G56S	Cardiomyopathy, hypertrophic 6, Autosomal dominant;Glycogen storage disease of heart, lethal congenital, Autosomal dominant;Wolff-Parkinson-White syndrome, ?Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	45358	not_provided|Renal_cysts_and_diabetes_syndrome|Cardiomyopathy|PRKAG2_cardiac_syndrome|Lethal_congenital_glycogen_storage_disease_of_heart|Wolff-Parkinson-White_pattern|not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_6	MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN221579|MONDO:MONDO:0009867,MedGen:C1849813,OMIM:261740,Orphanet:439854|Human_Phenotype_Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200,Orphanet:907|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010946,MedGen:C1833236,OMIM:600858	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.907	P	0.205	B	0.001	N	1.000	D	0.975	L	-1.98	D	-0.503	T	0.157	T	0.206	2.766	15.21	4.08	1.081	2.008	12.384	0.730	.	0.0008	0.0145767	0.0081	0.0006	0.0010	0.0355	0	0.0008	0.0101	0.0358	0.0071409	1104	154602	rs79474211	0.0043	0.0043	0.0035	0.0052	0.0541	0.0042	0.0042	0.0522	0.0514	0.0018	0.0011	0.0010	0.0541	0.0002	0.0140	0.0005	0.0066	0.0348	0.0031	0.0031	0.0024	0.0038	0.0360	0.0029	0.0028	0.0318	0.0301	0.0007	0.0099	0.0010	0.0009	0.0360	0	0.0205	0.0007	0.0052	0.0343	0.109	0.46129	T	0.14	0.33554	T	0.907	0.50062	P	0.205	0.37080	B	0.001201	0.39820	N	0.232951	0.998981	0.45816	D	1.405	0.35469	L	-1.98	0.87989	D	-0.82	0.23156	N	0.257	0.29313	-0.5035	0.68523	T	0.157	0.48959	T	10	0.0072490573	0.00165	T	.	.	.	0.730	0.90545	.	.	0.708777450051	0.70623	0.2238368867238497	0.22298	0.13916893508	0.15685	0.522185921669	0.41933	T	0.054731	0.29808	T	-0.388771	0.02740	T	-0.281752	0.46623	T	0.0104251597581125	0.00143	T	0.70393	0.31399	T	0.12016292	0.28280	0.119865134	0.28929	0.11875115	0.27972	0.1156467	0.27917	-2.981	0.10310	T	.	.	0.079	0.07985	B	.;.	.;.	2.751296	0.36062	20.2	0.99634586419861892	0.76264	0.62343	0.31753	D	AEFDBI	0.201863	0.32850	N	0.0362395582159843	0.43511	2.642547	0.0820868581914568	0.43649	2.66225	0.99962048104306	0.41093	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.08	0.46880	2.059000	0.41010	0.536000	0.19291	0.580000	0.29708	0.946000	0.32893	0.079000	0.22353	0.252000	0.23314	0.0:0.9185:0.0:0.0815	12.384	0.54652	450	0.79359	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1971.98	44	chr7	151781320	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.000e-03;DP=906;ExcessHet=0.0000;FS=1.937;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-2.100e-02;SOR=0.532	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1986,0,2137	20	0	1	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	312269	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	P	0	N	2.94	T	-0.960	T	0.013	T	0.028	0.469	6.544	-1.85	-0.966	1.133	7.767	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:205,0,206:411:99:.:.:7117,7761,15706,0,7945,7328	3	1	5	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	490785	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:205,0,206:411:99:.:.:7117,7761,15706,0,7945,7328	3	1	5	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:5,0,2:7:51:.:.:51,66,217,0,151,145	5	2	1	7
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:5,0,2:7:51:.:.:51,66,217,0,151,145	5	2	1	7
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,9,0:10:0:.:.:173,0,0,176,26,202	9	0	7	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,9,0:10:0:.:.:173,0,0,176,26,202	9	0	7	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	1/1:1,50,0:51:99:2162,108,0,2166,150,2208	2	5	5	0
chr9	34646576	34646579	CAGT	-	upstream	GALT	dist=10	.	.	Galactosemia, Autosomal recessive	.	25	1347	134	16	0	166	0.058042	.	.	36445	Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Classical_galactosemia,_homozygous_Duarte-type|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C0268152|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417332	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs111033640	0.0603	0.0594	0.0596	0.0610	0.0758	0.0599	0.0598	0.0742	0.0735	0.0111	0.0491	0.0510	0.0064	0.0679	0.0472	0.0636	0.0570	0.0758	0.0470	0.0471	0.0472	0.0468	0.0689	0.0461	0.0458	0.0629	0.0622	0.0124	0.1615	0.0491	0.0481	0.0093	0.0672	0.0408	0.0645	0.0445	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2344.97	19	chr9	34646575	.	CCAGT	C	2344.97	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.870e-01;DP=526;ExcessHet=0.1217;FS=2.119;InbreedingCoeff=0.2221;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=21.32;ReadPosRankSum=0.661;SOR=1.081	GT:AD:DP:GQ:PL	0/1:8,9:17:99:354,0,309	16	1	4	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D	Galactosemia, Autosomal recessive	YES	0	1107	372	43	0	458	0.171407	.	.	18652	GALT-related_disorder|Galactosemia|not_provided|GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase	.|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.855	N	-5.41	D	-0.345	T	0.089	T	0.357	0.357	5.939	4.4	1.256	1.578	7.829	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	9063.88	35	chr9	34649445	.	A	G	9063.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-1.310e-01;DP=1240;ExcessHet=0.5418;FS=0.523;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.307;SOR=0.754	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1078,0,1330	14	1	6	0
chr9	72836129	72836129	T	C	UTR3	TMC1	NM_138691:c.*156T>C	.	.	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	.	8	1512	2	0	0	2	0.000660939	.	.	313261	Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36|not_provided	MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0022	0	0	0	0	2.261e-05	0.0015	0.0134	0.0014618	226	154602	rs545955592	0.0012	0.0008	0.0006	0.0017	0.0113	0.0011	0.0011	0.0107	0.0104	5.258e-05	0	0	0	0	0.0005	1.41e-05	0.0007	0.0113	0.0003	0.0003	0.0002	0.0004	0.0091	0.0003	0.0002	0.0070	0.0062	7.227e-05	0	0	0	0.0002	0	0	0	0.0009	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2804.98	73	chr9	72836129	.	T	C	2804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e+00;DP=1556;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.170e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:107,106:213:99:2819,0,3078	20	0	1	0
chr9	95107185	95107185	C	T	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon14:c.G1414A:p.G472R	Fanconi anemia, complementation group C, Autosomal recessive	.	1	1516	5	0	0	5	0.00164636	.	.	138038	not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Fanconi_anemia_complementation_group_C|not_specified	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	0.053	B	0.073	B	0.126	N	1.000	N	1.5	L	0.81	T	-0.996	T	0.113	T	0.12	2.857	15.52	2.75	0.518	0.369	10.918	0.046	0.00603868157937	.	0.000199681	0.0004	0	0.0003	0	0	4.515e-05	0	0.0026	0.0003363	52	154602	rs201063698	0.0002	0.0002	9.392e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	2.987e-05	4.472e-05	7.652e-05	0	0	0.0010	3.417e-05	0.0001	0.0026	8.535e-05	8.53e-05	2.569e-05	0.0001	0.0017	4.953e-05	3.96e-05	0.0008	0.0006	0	0	6.533e-05	0.0006	0	0	0	1.47e-05	0.0005	0.0017	0.107	0.29554	T	0.141	0.33442	T	0.053	0.22573	B	0.073	0.28123	B	0.126382	0.18806	N	0.508000	1	0.08975	N	1.5	0.37844	L	0.81	0.48460	T	-2.0	0.46146	N	0.131	0.12627	-0.9955	0.31164	T	0.113	0.40445	T	10	0.007597208	0.00173	T	0.006039	0.15787	T	0.046	0.12618	0.554	0.67133	0.663271509172	0.66044	0.09376529359446116	0.09308	0.300820576004	0.32437	0.294713020325	0.09615	T	0.196043	0.55230	T	-0.57642	0.00203	T	-0.606001	0.12312	T	0.0388088933990968	0.03477	T	0.40106	0.10202	T	0.071426064	0.15813	0.095814675	0.22741	0.071426064	0.15813	0.095814675	0.22741	-3.542	0.17025	T	0.21363018038664924	0.28689	0.112	0.22098	B	.;.	.;.	1.129375	0.15156	11.63	0.99647588466187975	0.77068	0.10165	0.15746	N	AEFDGBHCI	0.047065	0.07885	N	-0.784304407345072	0.13717	0.6778491	-0.832340421141015	0.13712	0.712856	0.999999285752186	0.74766	0.626454	0.40138	0	0.653731	0.59785	0	0.80507	0.99327	0	0.692231	0.68500	0	.	.	4.67	2.75	0.31439	0.402000	0.20690	0.518000	0.19139	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6313:0.3687:0.0	10.918	0.46359	167	0.93508	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1574.98	34	chr9	95107185	.	C	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.206;DP=852;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=-1.006e+00;SOR=0.617	GT:AD:DP:GQ:PL	0/1:81,65:146:99:1589,0,2108	20	0	1	0
chr9	101362923	101362923	C	T	exonic	BAAT	.	synonymous SNV	BAAT:NM_001127610:exon4:c.G762A:p.T254T	Hypercholanemia, familial	.	.	.	.	.	.	.	.	.	.	586231	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	8.664e-05	0.0001	0	5.996e-05	0	0.0007	0.0001358	21	154602	rs760488689	5.268e-05	5.267e-05	4.22e-05	6.326e-05	0.0005	4.278e-05	3.953e-05	0.0004	0.0003	2.988e-05	4.473e-05	0	2.519e-05	0	0.0002	2.518e-05	1.656e-05	0.0005	5.918e-05	5.911e-05	9e-05	2.692e-05	0.0006	3.079e-05	2.212e-05	0.0002	9.007e-05	2.414e-05	0	6.555e-05	0	0	0	0	5.883e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1631.98	41	chr9	101362923	.	C	T	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.54;DP=984;ExcessHet=0.0000;FS=2.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=0.524;SOR=0.970	GT:AD:DP:GQ:PL	0/1:88,66:154:99:1646,0,2078	20	0	1	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	.	0	1201	295	26	0	347	0.126228	.	.	311645	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.09524	5700.9	37	chr9	133568656	.	G	A	5700.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.967;DP=1022;ExcessHet=0.0082;FS=4.240;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.425;SOR=0.910	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3530,348,0	18	1	2	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2610,252,0	5	7	9	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	.	0	1194	298	30	0	358	0.130371	.	.	307339	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.09524	4402.9	43	chr9	133569488	.	C	G	4402.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.992;DP=962;ExcessHet=0.0082;FS=0.489;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.68;ReadPosRankSum=1.10;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2538,252,0	18	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	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	1/1:1,11:12:7:263,7,0	2	14	5	0
chr10	20889923	20889923	C	G	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon3:c.G180C:p.K60N,	.	.	439	1079	4	0	0	4	0.00185014	.	.	54652	NEBL-related_disorder|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype	.|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.295	M	0.25	T	-0.595	T	0.259	T	0.289	2.907	15.69	1.9	0.087	0.052	8.740	0.323	0.0429752649612	0.0052	0.00139776	0.0039	0.0008	0.0015	0	0.0006	0.0064	0.0022	0.0008	0.0043208	668	154602	rs41277374	0.0057	0.0058	0.0057	0.0056	0.0067	0.0056	0.0055	0.0066	0.0065	0.0006	0.0020	0.0088	0	0.0009	0.0010	0.0067	0.0048	0.0015	0.0038	0.0038	0.0041	0.0035	0.0065	0.0035	0.0034	0.0060	0.0058	0.0010	0.0011	0.0023	0.0101	0	0.0004	0	0.0065	0.0028	0.0023	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.103713	0.997262	0.81001	D	3.005	0.85968	M	0.25	0.59449	T	-3.89	0.78807	D	0.867	0.86404	-0.5946	0.65036	T	0.259	0.62966	T	10	0.008779794	0.00199	T	0.042975	0.60744	D	0.323	0.64522	0.501	0.59304	0.717819449637	0.71533	0.4051002485864515	0.40426	0.115224054123	0.12999	0.578130125999	0.49823	T	0.074521	0.34958	T	-0.402079	0.02244	T	-0.342374	0.40076	T	0.0444831642729476	0.04508	T	0.842116	0.64041	T	0.67088205	0.76480	0.5945006	0.76462	0.67088205	0.76481	0.5945006	0.76462	-8.693	0.65700	D	.	.	0.234	0.46768	B	.;.	.;.	2.788526	0.36647	20.3	0.99734096526239135	0.82975	0.79226	0.39218	D	AEFGBI	0.407691	0.47967	N	0.156769774313982	0.49132	3.117146	0.0650596252988378	0.42807	2.595654	0.958819659289646	0.28386	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	1.9	0.24770	0.102000	0.15108	0.135000	0.15097	-0.182000	0.10109	0.992000	0.37556	0.936000	0.28664	0.876000	0.41813	0.0:0.4559:0.0:0.5441	8.740	0.33710	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1111.98	33	chr10	20889923	.	C	G	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.880e+00;DP=788;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.22;SOR=0.576	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1126,0,1377	20	0	1	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P,	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	.	277	416	362	467	0	1296	0.609023	.	.	135501	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1085,96,0	3	13	5	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	5	773	611	133	0	877	0.361948	.	.	36275	Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Multiple_endocrine_neoplasia_type_2A|Multiple_endocrine_neoplasia,_type_2|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia_type_2B|Hirschsprung_disease,_susceptibility_to,_1|Pheochromocytoma	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.103	B	0.016	B	0.004	N	1.000	P	0.345	N	-1.05	T	-1.097	T	0.000	T	0.104	0.870	8.525	-1.08	-0.060	4.395	9.258	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.1905	14725.9	33	chr10	43114671	.	G	A	14725.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.69;DP=1584;ExcessHet=3.5521;FS=0.537;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.376;SOR=0.768	GT:AD:DP:GQ:PL	0/1:103,72:175:99:1640,0,2359	13	0	8	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C	.	YES	425	935	151	11	0	173	0.0846794	.	.	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.977	D	0.033	N	0.993	A	3.335	M	-3.2	D	0.062	D	0.432	T	0.403	3.353	17.29	3.07	1.263	1.121	9.112	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	5229.92	34	chr10	52771482	.	G	A	5229.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.332;DP=1141;ExcessHet=0.6776;FS=1.775;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-7.600e-02;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,66:155:99:.:.:1411,0,2147	17	0	4	0
chr10	71734338	71734338	C	T	exonic	CDH23	.	synonymous SNV	CDH23:NM_022124:exon32:c.C4203T:p.T1401T,	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	1	1518	3	0	0	3	0.000987167	.	.	174976	CDH23-related_disorder|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00159744	0.0022	0.0003	0.0002	0.0232	0	0.0003	0.0054	0.0024	0.0013519	209	154602	rs202166096	0.0009	0.0009	0.0008	0.0009	0.0153	0.0008	0.0008	0.0142	0.0138	8.992e-05	4.578e-05	0	0.0153	3.804e-05	0.0002	0.0004	0.0009	0.0025	0.0008	0.0008	0.0006	0.0009	0.0160	0.0006	0.0006	0.0132	0.0122	0	0	0.0002	0	0.0160	0	0	0.0002	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1433.98	35	chr10	71734338	.	C	T	1433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.133;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-7.600e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1448,0,1165	20	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,51,0,0:55:13:0|1:90918983_AATAAATAAATATATATAT_A:2106,0,13,2118,168,2286,2118,168,2286,2286:90918983	3	10	5	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1142,126,0	1	15	5	0
chr11	637537	637549	CCGCCGACCTCCT	-	exonic	DRD4	.	frameshift deletion	DRD4:NM_000797:exon1:c.233_245del:p.A79Sfs*21,	Autonomic nervous system dysfunction (3)	.	400	1120	2	0	0	2	0.000892061	.	.	31806	not_specified|not_provided|Autonomic_nervous_system_dysfunction	MedGen:CN169374|MedGen:CN517202|MedGen:C4016022	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00319489	0.0093	0.0017	0.0018	0	0.0462	0.0202	0	0.0001	0.0008603	133	154602	rs1384747285	0.0126	0.0126	0.0129	0.0123	0.0142	0.0125	0.0124	0.0140	0.0139	0.0015	0.0017	0.0059	0	0.0365	0.0014	0.0142	0.0097	0.0002	0.0101	0.0102	0.0095	0.0109	0.0141	0.0097	0.0096	0.0133	0.0131	0.0019	0.0099	0.0018	0.0075	0	0.0411	0	0.0141	0.0052	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1155.94	35	chr11	637536	.	GCCGCCGACCTCCT	G	1155.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=770;ExcessHet=0.0000;FS=1.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=1.85;SOR=0.607	GT:AD:DP:GQ:PL	0/1:44,31:75:99:1170,0,1753	20	0	1	0
chr11	1841087	1841087	A	G	exonic	TNNI2	.	synonymous SNV	TNNI2:NM_001145841:exon5:c.A333G:p.P111P,	Arthrogryposis multiplex congenita, distal, type 2B, Autosomal dominant	.	0	1496	25	1	0	27	0.00894336	.	.	265977	not_provided|Distal_arthrogryposis_type_2B1	MedGen:C3661900|MONDO:MONDO:0020820,MedGen:C5193014,OMIM:601680,Orphanet:1147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00139776	0.0008	0	0.0003	0	0	0.0004	0.0012	0.0037	0.0006662	103	154602	rs201133081	0.0006	0.0006	0.0004	0.0007	0.0073	0.0005	0.0005	0.0055	0.0049	5.974e-05	0.0002	0.0002	0	5.712e-05	0.0073	0.0003	0.0009	0.0041	0.0004	0.0004	0.0003	0.0004	0.0037	0.0003	0.0003	0.0024	0.0020	0	0	0.0004	0.0003	0	0	0	0.0004	0.0009	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.04762	3250.11	35	chr11	1841087	.	A	G	3250.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.056e+00;DP=1044;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=2.11;SOR=0.675	GT:AD:DP:GQ:PL	0/1:67,85:152:99:1991,0,1553	19	0	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	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,91:192:99:.:.:2196,0,2313	1	12	8	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2045,189,0	3	9	9	0
chr11	17393168	17393168	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2445,225,0	4	6	11	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	445	728	343	0	1414	0.613715	.	.	167548	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	16421.3	35	chr11	17395957	.	A	G	16421.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.977;DP=1002;ExcessHet=0.2144;FS=1.432;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=22.53;ReadPosRankSum=-2.190e-01;SOR=0.560	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2107,180,0	7	6	8	0
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	16	869	514	123	0	760	0.304243	.	.	1166870	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3380.8	25	chr11	17396823	.	C	A	3380.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-1.127e+00;DP=444;ExcessHet=1.5138;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=19.77;ReadPosRankSum=0.331;SOR=0.351	GT:AD:DP:GQ:PL	0/1:7,12:19:99:401,0,207	12	1	8	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	703	213	106	500	0	1106	0.721932	.	.	1166871	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	1/1:0,7:7:21:224,21,0	2	14	4	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	87	248	463	724	0	1911	0.793934	.	.	1166872	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1193,93,0	1	12	8	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	19	213	530	760	0	2050	0.827948	.	.	1166873	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2086,174,0	1	12	8	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	93	473	950	0	2373	0.927315	.	.	1166874	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2485,255,0	1	14	6	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	1120	365	36	0	437	0.163242	.	.	167534	Diabetes_mellitus,_permanent_neonatal_3|Hereditary_hyperinsulinism|Permanent_neonatal_diabetes_mellitus|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Type_2_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|.|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.1667	9910.53	34	chr11	17428382	.	C	T	9910.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.430e-01;DP=1163;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.880;SOR=0.689	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3913,369,0	15	1	5	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	8	536	705	273	0	1251	0.538528	.	.	167532	not_specified|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|not_provided|Cerebral_edema|Diabetes_mellitus,_permanent_neonatal_3	MedGen:CN169374|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.4762	39176.3	120	chr11	17430945	.	G	A	39176.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.597;DP=2193;ExcessHet=0.2144;FS=0.599;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=0.183;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4417,456,0	7	6	8	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,225:225:99:6544,673,0	2	11	8	0
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1363,0,1639	8	1	12	0
chr11	68312814	68312814	G	C	intronic	LRP5	.	.	.	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	.	414	1106	2	0	0	2	0.000903342	.	.	1156810	not_provided|Osteoporosis_with_pseudoglioma|Polycystic_liver_disease_4_with_or_without_kidney_cysts|Exudative_vitreoretinopathy_1|Worth_disease|Autosomal_dominant_osteopetrosis_1|Osteoporosis|Bone_mineral_density_quantitative_trait_locus_1|Exudative_vitreoretinopathy_4|LRP5-related_disorder|Osteogenesis_imperfecta	MedGen:C3661900|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MedGen:C1866079,OMIM:601884|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|.|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0291	0	0	0	.	0	0	0.0361	0.0005692	88	154602	rs569517144	0.0008	0.0008	0.0007	0.0009	0.0285	0.0008	0.0007	0.0267	0.0260	0.0003	0	0	0.0004	0	0.0016	2.493e-06	0.0023	0.0285	0.0010	0.0010	0.0005	0.0015	0.0296	0.0009	0.0008	0.0256	0.0241	7.34e-05	0	0	0	0	0	0	0	0	0.0296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	288.98	12	chr11	68312814	.	G	C	288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.599e+00;DP=332;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.411;SOR=0.830	GT:AD:DP:GQ:PL	0/1:7,14:21:99:303,0,160	20	0	1	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	11	1492	18	1	0	20	0.00665779	.	.	195492	not_specified|not_provided|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.518	P	0.252	B	0.000	D	1.000	D	0.92	L	1.65	T	-1.063	T	0.092	T	0.559	3.587	18.27	5.69	2.167	8.812	15.990	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1307.11	34	chr11	103236469	.	A	G	1307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.294;SOR=0.756	GT:AD:DP:GQ:PL	0/1:23,37:60:99:797,0,508	19	0	2	0
chr11	111837557	111837557	G	A	exonic	ALG9	.	synonymous SNV	ALG9:NM_001352409:exon11:c.C849T:p.T283T	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	373874	not_specified|ALG9-related_disorder|not_provided|ALG9_congenital_disorder_of_glycosylation	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985	D	.	.	.	.	-0.951	T	0.140	T	.	0.891	8.618	0.834	0.195	-0.198	7.545	0.067	.	0.0059	0.00219649	0.0056	0.0020	0.0018	0	0.0027	0.0086	0.0067	0.0027	0.0059508	920	154602	rs45516107	0.0092	0.0092	0.0095	0.0089	0.0113	0.0091	0.0090	0.0111	0.0110	0.0017	0.0017	7.653e-05	0	0.0023	0.0026	0.0113	0.0075	0.0025	0.0053	0.0053	0.0056	0.0049	0.0094	0.0050	0.0048	0.0088	0.0085	0.0022	0	0.0020	0	0	0.0020	0.0034	0.0094	0.0047	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	33	chr11	111837557	.	G	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.390e-01;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-1.156e+00;SOR=0.644	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1461,0,1088	20	0	1	0
chr11	119306484	119306484	T	C	UTR3	CBL	NM_005188:c.*6703T>C	.	.	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	742	778	1	1	0	3	0.00192431	.	.	318729	not_provided|CBL-related_disorder	MedGen:C3661900|MONDO:MONDO:0013308,MedGen:C3150803,OMIM:613563,Orphanet:363972	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013063	34	26028	rs562568416	0.0010	0.0005	0.0010	0.0011	0.0015	0.0009	0.0009	0.0012	0.0012	0.0003	0.0003	0	0	0.0004	0.0015	0.0014	0.0010	0.0008	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0012	0.0011	0.0004	0	0.0010	0	0	0.0004	0	0.0014	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	473.98	23	chr11	119306484	.	T	C	473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.424e+00;DP=611;ExcessHet=0.0000;FS=1.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.017e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/1:15,20:35:99:488,0,379	20	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	780	740	2	0	744	0.322917	.	.	266166	not_specified|Hereditary_von_Willebrand_disease|not_provided	MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.3571	3980.38	45	chr12	6018369	.	T	G	3980.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-7.750e-01;DP=996;ExcessHet=17.4423;FS=8.327;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=54.45;MQRankSum=-6.671e+00;QD=5.08;ReadPosRankSum=1.55;SOR=0.332	GT:AD:DP:GQ:PL	0/1:39,14:53:99:242,0,1115	6	0	15	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	0	177	7	42	0	91	0.204494	.	.	778118	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,21:21:83:975,83,0	8	11	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	0/1:22,29,3:55:99:590,0,387,531,459,1218	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:17,24,4:45:99:539,0,281,462,306,1006	3	0	16	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L,	Bardet-Biedl syndrome 10, Autosomal recessive	.	4	1146	322	50	0	422	0.15549	.	.	177141	not_specified|not_provided|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_10	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.788	N	1.000	N	1.355	L	-1.87	D	-0.939	T	0.062	T	0.044	-1.423	0.021	0.792	0.038	0.335	8.240	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.1667	14060.55	34	chr12	76346369	.	G	A	14060.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.237;DP=1596;ExcessHet=2.5830;FS=0.521;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.628;SOR=0.773	GT:AD:DP:GQ:PL	0/1:88,75:163:99:1980,0,2398	14	0	7	0
chr12	121001795	121001795	G	A	UTR3	C12orf43;HNF1A	NM_001286191:c.*2358C>T;NM_001286196:c.*2358C>T;NM_022895:c.*2358C>T;NM_000545:c.*603G>A;NM_001306179:c.*603G>A	.	.	.	.	198	1237	84	3	0	90	0.0351014	.	.	323500	Maturity-onset_diabetes_of_the_young_type_3|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120008	0.0688	0.1436	0.0349	0.2101	0	0.0117	0.0614	0.0851	0.0138549	2142	154602	rs11065390	0.0438	0.0283	0.0410	0.0462	0.1946	0.0433	0.0430	0.1896	0.1876	0.1191	0.0168	0.0057	0.1946	0.0183	0.0267	0.0220	0.0449	0.0813	0.0618	0.0619	0.0601	0.0636	0.2429	0.0608	0.0603	0.2318	0.2273	0.1299	0.1451	0.0276	0.0063	0.2429	0.0122	0.0238	0.0214	0.0458	0.1028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	62.27	85	chr12	121001795	.	G	A	62.27	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.967;DP=85;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0864;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=20.76;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:26:71,0,26	11	0	1	9
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15991.24	33	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	15991.24	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.33;DP=861;ExcessHet=0.0204;FS=5.516;InbreedingCoeff=0.4273;MLEAC=20;MLEAF=0.476;MQ=59.96;MQRankSum=0.00;QD=32.77;ReadPosRankSum=0.809;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,24:48:99:0|1:132730334_CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT_C:936,0,936:132730334	8	7	6	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:10,0,9,10:29:1:.:.:236,238,480,0,276,281,1,220,33,156	2	3	7	0
chr13	24892884	24892885	AC	-	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	.	141	1131	185	50	15	300	0.111896	.	.	334164	Seckel_syndrome|not_provided|Primary_Microcephaly,_Recessive	MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN239428	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1854	.	0.0168	0.0165	0.0150	0.0025	0.0166	0.0220	0.0247	0.0112	0.0004226	11	26028	rs1491571085	0.0158	0.0295	0.0161	0.0155	0.0177	0.0156	0.0155	0.0174	0.0173	0.0173	0.0081	0.0224	0.0004	0.0122	0.0118	0.0177	0.0141	0.0102	0.0114	0.0124	0.0112	0.0116	0.0230	0.0108	0.0106	0.0216	0.0211	0.0230	0	0.0089	0.0215	0.0004	0.0015	0.0049	0.0036	0.0119	0.0107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	244.0	30	chr13	24892883	.	AAC	*,A	244.0	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=1.37;DP=693;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3549;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=-8.970e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:20,4,15:39:99:.:.:608,254,968,0,654,687	10	0	10	0
chr13	52029312	52029312	A	G	exonic	UTP14C	.	nonsynonymous SNV	UTP14C:NM_021645:exon2:c.A508G:p.I170V,	.	.	419	1102	1	0	0	1	0.000453515	.	.	237194	not_provided|ALG11-congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0013349,MedGen:C3150913,OMIM:613661,Orphanet:280071	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.243	B	0.207	B	0.004	N	1.000	N	1.66	L	2.36	T	-1.048	T	0.029	T	0.078	0.436	6.370	2.46	1.146	-0.024	8.414	0.027	0.00231305394395	0.0052	0.00199681	0.0035	0.0015	0.0029	0	0.0011	0.0053	0.0022	0.0006	0.0036416	563	154602	rs73184339	0.0062	0.0062	0.0063	0.0060	0.0075	0.0060	0.0060	0.0074	0.0073	0.0013	0.0030	3.826e-05	0	0.0009	0.0003	0.0075	0.0063	0.0006	0.0041	0.0041	0.0044	0.0037	0.0075	0.0038	0.0037	0.0069	0.0067	0.0014	0	0.0025	0	0	0.0005	0	0.0075	0.0062	0.0004	0.197	0.20607	T	0.892	0.03117	T	0.243	0.30970	B	0.207	0.37187	B	0.004174	0.34034	N	0.364353	1	0.81001	D	1.8	0.47472	L	2.36	0.16089	T	-0.17	0.09627	N	0.042	0.01498	-1.0477	0.15045	T	0.029	0.12365	T	10	0.007573843	0.00172	T	0.002313	0.04452	T	0.027	0.05988	.	.	0.227260227426	0.22338	0.07141856775567916	0.07078	0.0987967183459	0.11165	0.348253279924	0.17665	T	0.001144	0.00651	T	-0.639284	0.00084	T	-0.685373	0.06660	T	0.00159623552123552	0.00016	T	0.758824	0.38273	T	0.031221647	0.02922	0.04312845	0.05296	0.031221647	0.02922	0.04312845	0.05296	-4.341	0.28748	T	.	.	0.073	0.04477	B	.	.	0.760481	0.11303	7.925	0.93604480535229229	0.23463	0.06137	0.12116	N	AEFBCI	0.048714	0.08340	N	-0.579634771419989	0.19563	1.024909	-0.62269714747864	0.18911	1.012327	0.200236982395711	0.18114	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	2.46	2.46	0.29032	-0.171000	0.09872	2.359000	0.32360	0.652000	0.53365	0.002000	0.15269	0.088000	0.22492	0.923000	0.45890	1.0:0.0:0.0:0.0	8.414	0.31823	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2121.98	119	chr13	52029312	.	A	G	2121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.742e+00;DP=1973;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=0.480;SOR=0.765	GT:AD:DP:GQ:PL	0/1:62,83:145:99:2136,0,1728	20	0	1	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	.	26	775	566	155	0	876	0.361088	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11312.51	41	chr14	23419114	.	T	TG	11312.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.730e-01;DP=1170;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.01;ReadPosRankSum=0.641;SOR=0.688	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1380,0,1860	14	0	7	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	254944	Premature_ovarian_failure_15|Spermatogenic_failure_28|not_specified|Fanconi_anemia|not_provided	MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5150.84	36	chr14	45159080	.	TTA	T	5150.84	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.323;DP=609;ExcessHet=0.5418;FS=0.476;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=20.77;ReadPosRankSum=0.470;SOR=0.733	GT:AD:DP:GQ:PL	0/1:18,32:50:99:1081,0,534	14	1	6	0
chr14	67767816	67767816	C	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon31:c.G5678T:p.S1893I,	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	2	1505	15	0	0	15	0.00495868	.	.	186193	not_provided|not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_15	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.77	P	0.005	N	0.996	N	1.87	L	1.66	T	-1.025	T	0.067	T	0.15	1.840	12.11	1.56	0.008	0.714	2.320	0.075	.	0.0075	0.00479233	0.0081	0.0013	0.0066	0	0.0183	0.0103	0.0176	0.0038	0.0078071	1207	154602	rs34952009	0.0083	0.0083	0.0083	0.0084	0.0092	0.0082	0.0082	0.0083	0.0083	0.0014	0.0058	0.0194	2.519e-05	0.0191	0.0092	0.0085	0.0086	0.0038	0.0070	0.0070	0.0070	0.0071	0.0091	0.0067	0.0065	0.0085	0.0083	0.0015	0.0044	0.0054	0.0184	0	0.0192	0.0068	0.0091	0.0085	0.0019	0.228	0.26740	T	0.046	0.49663	D	0.995	0.67487	D	0.77	0.56828	P	0.005344	0.32875	N	0.374659	0.888876	0.27918	N	.	.	.	1.66	0.30669	T	-0.72	0.27259	N	0.29	0.41459	-1.0254	0.21952	T	0.067	0.27399	T	10	0.005324453	0.00117	T	.	.	.	0.075	0.21907	.	.	0.245660935333	0.24156	0.3697957229535575	0.36893	0.275694094207	0.30043	0.360373139381	0.19440	T	0.026196	0.19435	T	-0.552594	0.00281	T	-0.558578	0.16509	T	0.0131855870363913	0.00233	T	0.717128	0.32987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17869	B	.;.	.;.	1.825842	0.23202	15.92	0.99238611775217189	0.56469	0.87055	0.46482	D	AEFGBI	0.088247	0.17890	N	-0.217329191195304	0.32423	1.828335	-0.341678853600244	0.26766	1.480646	0.939167708062389	0.27375	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	1.56	0.22423	0.740000	0.25856	1.437000	0.26495	-0.193000	0.09282	0.872000	0.30832	1.000000	0.68203	0.302000	0.24547	0.2637:0.4565:0.1283:0.1516	2.320	0.03950	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1706.98	40	chr14	67767816	.	C	A	1706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-01;DP=959;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=0.889;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,70:152:99:0|1:67767816_C_A:1721,0,2027:67767816	20	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24	Machado-Joseph disease, Autosomal dominant	.	98	926	380	118	0	616	0.249595	.	.	390136	not_specified|not_provided|ATXN3-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	15824.71	66	chr14	92071009	.	C	CG	15824.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.151e+00;DP=1672;ExcessHet=0.7800;FS=1.838;InbreedingCoeff=-0.0717;MLEAC=14;MLEAF=0.412;MQ=59.16;MQRankSum=0.00;QD=20.52;ReadPosRankSum=0.215;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,80:80:99:.:.:3100,238,0	7	2	8	4
chr15	53523331	53523332	AG	-	intronic	WDR72	.	.	.	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	14	784	401	71	252	795	0.257224	.	.	340892	not_provided|Amelogenesis_Imperfecta,_Recessive|WDR72-related_disorder	MedGen:C3661900|MedGen:CN239209|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2306	0.2143	0.2694	0.3617	0.1755	0.2088	0.2154	0.2560	0.0028913	447	154602	rs112552047	0.0994	0.1689	0.0975	0.1014	0.2643	0.0989	0.0987	0.2589	0.2567	0.1268	0.1416	0.1098	0.2643	0.1076	0.0653	0.0894	0.1105	0.1377	0.0150	0.0172	0.0147	0.0154	0.0702	0.0145	0.0143	0.0642	0.0618	0.0283	0.0077	0.0060	0.0015	0.0702	0.0031	0.0034	0.0057	0.0146	0.0399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	13790.18	34	chr15	53523330	.	AAG	AAGAG,AAGAGAG,A	13790.18	.	AC=3,12,1;AF=0.071,0.286,0.024;AN=42;BaseQRankSum=0.00;DP=1235;ExcessHet=0.3152;FS=0.576;InbreedingCoeff=0.1923;MLEAC=3,12,1;MLEAF=0.071,0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=21.82;ReadPosRankSum=0.452;SOR=0.796	GT:AD:DP:GQ:PL	1/2:0,7,51,0:58:62:2395,1686,1522,221,0,62,2183,1650,221,2078	9	0	0	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	26	0	7	1489	0	2985	1	0	0	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,147:147:99:4369,441,0	0	21	0	0
chr15	64162029	64162029	C	T	intronic	PPIB	.	.	.	Osteogenesis imperfecta, type IX, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	876552	Osteogenesis_imperfecta_type_9|not_provided	MONDO:MONDO:0009805,MedGen:C1850169,OMIM:259440|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000599042	0.0006	0	0.0003	0.0002	0	0.0006	0.0022	0.0018	0.0005175	80	154602	rs202059751	0.0004	0.0004	0.0003	0.0004	0.0033	0.0004	0.0003	0.0022	0.0018	0	0.0008	0.0003	2.527e-05	0	0.0033	0.0002	0.0007	0.0020	0.0006	0.0006	0.0006	0.0005	0.0027	0.0005	0.0004	0.0016	0.0014	2.406e-05	0	0.0022	0.0006	0	0	0.0034	0.0005	0.0009	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1057.98	33	chr15	64162029	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.436e+00;DP=740;ExcessHet=0.0000;FS=6.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.89;ReadPosRankSum=1.42;SOR=0.227	GT:AD:DP:GQ:PL	0/1:20,36:56:99:1072,0,537	20	0	1	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	205	10	0	6	5	17	0.375	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,2:2:6:.:.:71,71,71,6,6,0	0	4	2	3
chr16	2114921	2114921	G	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.C2102A:p.T701N	Polycystic kidney disease, adult type I, Autosomal dominant	YES	215	1282	23	2	0	27	0.0104207	.	.	919631	not_provided|Polycystic_kidney_disease,_adult_type|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.763	P	0.219	B	0.193	N	1.000	N	1.87	L	1.31	T	-1.051	T	0.078	T	0.076	0.319	5.729	3.09	1.181	1.806	9.643	0.052	0.119057797368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0055	0.0010	0.0014	0.0042	0.0012	0.0011	0.0036	0.0034	0.0002	0.0042	0.0022	0.0015	0.0007	0.0015	0.0010	0.0011	0.0035	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.095	0.31235	T	0.107	0.37730	T	0.514	0.43659	P	0.115	0.37734	B	0.192933	0.16798	N	0.604873	1	0.08975	N	2.35	0.67516	M	1.31	0.35405	T	-1.53	0.37178	N	0.226	0.32701	-1.0514	0.14009	T	0.078	0.31103	T	10	0.19567388	0.35429	T	0.119058	0.79926	D	0.052	0.14661	.	.	0.550246613503	0.54680	0.27213226263356766	0.27126	.	.	0.399860799313	0.25050	T	0.286815	0.65960	T	-0.263983	0.12437	T	-0.61697	0.11424	T	0.150881667384249	0.17173	T	0.688631	0.29780	T	0.065850526	0.14113	0.08088498	0.18334	0.065850526	0.14112	0.08088498	0.18334	-5.674	0.43461	T	0.33790161931626944	0.43577	0.105	0.19398	B	.;.	.;.	1.961136	0.24913	16.57	0.50966857304146163	0.04478	0.25707	0.22779	N	AEFBI	0.148006	0.27180	N	-0.571601178771383	0.19811	1.040	-0.661019807721852	0.17938	0.9561094	0.0203117780971335	0.13246	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.21	3.09	0.34677	1.444000	0.34679	6.196000	0.54830	-0.209000	0.08382	0.003000	0.16062	1.000000	0.68203	0.000000	0.00833	0.1485:0.13:0.7214:0.0	9.643	0.39015	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	77.9	36	chr16	2114921	.	G	T	77.9	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e+00;DP=755;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0481;MLEAC=1;MLEAF=0.024;MQ=41.59;MQRankSum=-1.677e+00;QD=0.59;ReadPosRankSum=0.450;SOR=0.593	GT:AD:DP:GQ:PL	0/1:69,10:79:11:11,0,1653	19	0	2	0
chr16	3247100	3247100	G	A	exonic	MEFV	.	synonymous SNV	MEFV:NM_001198536:exon4:c.C870T:p.R290R	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	45163	Familial_Mediterranean_fever,_autosomal_dominant|Acute_febrile_neutrophilic_dermatosis|not_provided|Autoinflammatory_syndrome|not_specified|Inborn_genetic_diseases|Familial_Mediterranean_fever	MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342	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	1	1	0.02381	2049.98	101	chr16	3247100	.	G	A	2049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.822;DP=2295;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.92;SOR=0.670	GT:AD:DP:GQ:PL	0/1:86,87:173:99:2064,0,1956	20	0	1	0
chr16	3249586	3249586	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.C472T:p.P158S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	0	1479	42	1	0	44	0.0146569	.	.	17590	not_specified|not_provided|Autoinflammatory_syndrome|Familial_Mediterranean_fever|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.959	D	0.503	P	0.002	N	0.000	A	1.01	L	0.49	T	-0.994	T	0.016	T	0.67	2.999	16.00	1.12	0.164	0.301	7.200	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1394.98	39	chr16	3249586	.	G	A	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=846;ExcessHet=0.0000;FS=3.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.440e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1409,0,1261	20	0	1	0
chr16	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	500	719	142	6	155	309	0.0967337	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4750.45	99	chr16	15725134	.	TA	T,TAA	4750.45	.	AC=5,9;AF=0.119,0.214;AN=42;BaseQRankSum=-1.360e-01;DP=2854;ExcessHet=14.4320;FS=1.194;InbreedingCoeff=-0.5163;MLEAC=5,9;MLEAF=0.119,0.214;MQ=60.00;MQRankSum=0.00;QD=3.13;ReadPosRankSum=0.858;SOR=0.574	GT:AD:DP:GQ:PL	0/2:81,10,33:129:99:434,644,3601,0,1695,1826	7	0	5	0
chr16	15725150	15725150	C	A	UTR3	NDE1	NM_001143979:c.*899C>A;NM_017668:c.*899C>A	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	154	1238	45	15	70	145	0.0294002	.	.	324455	not_provided|Aortic_aneurysm,_familial_thoracic_4|Lissencephaly,_Recessive|Lissencephaly_4	MedGen:C3661900|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:CN239458|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140974	.	.	.	.	.	.	.	.	0.000461	12	26028	rs79015533	0.0957	0.0667	0.0953	0.0961	0.1452	0.0949	0.0945	0.1390	0.1365	0.1452	0.0530	0.0887	0.0802	0.0853	0.0694	0.0990	0.1044	0.0956	0.1110	0.1127	0.1142	0.1077	0.1506	0.1096	0.1090	0.1473	0.1459	0.1506	0.1333	0.0728	0.0914	0.0828	0.0719	0.0863	0.1073	0.1103	0.0984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	7408.73	51	chr16	15725150	.	C	A,*	7408.73	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.24;DP=1700;ExcessHet=0.1217;FS=8.174;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=2.15;SOR=1.199	GT:AD:DP:GQ:PL	0/1:111,66,0:177:99:1243,0,2494,1364,2720,4392	16	0	4	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	YES	1246	176	28	72	0	172	0.328244	.	.	185945	not_specified|Spondylocostal_dysostosis_5	MedGen:CN169374|MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462061	.	.	.	.	.	.	.	.	0.423506	11023	26028	rs3809627	0.3478	0.0657	0.3200	0.3582	0.5000	0.2795	0.2547	0.2790	0.2465	0.2000	0	0.5000	0.5000	.	.	0.3725	0.3750	0.3276	0.4146	0.4149	0.4083	0.4212	0.5713	0.4119	0.4108	0.5541	0.5471	0.3471	0.3575	0.4821	0.4622	0.5713	0.4831	0.4388	0.4110	0.4262	0.4861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	313.36	3	chr16	30091839	.	C	A	313.36	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-1.150e+00;DP=36;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3131;MLEAC=8;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=24.10;ReadPosRankSum=0.319;SOR=0.593	GT:AD:DP:GQ:PL	1/1:0,4:4:12:127,12,0	9	2	1	9
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S	Blau syndrome, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	103775	not_provided|Autoinflammatory_syndrome|Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	2.615	M	0.01	T	-0.072	T	0.441	T	0.487	2.658	14.85	4.59	2.616	3.090	12.683	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2840.11	33	chr16	50710792	.	C	G	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.184;DP=1479;ExcessHet=0.1072;FS=10.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.020;SOR=0.315	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1412,0,1621	19	0	2	0
chr16	50731908	50731908	C	T	UTR3	NOD2	NM_001370466:c.*89C>T;NM_022162:c.*89C>T;NM_001293557:c.*89C>T	.	.	Blau syndrome, Autosomal dominant	.	2	1493	26	1	0	28	0.00928998	.	.	335194	not_provided|Inflammatory_bowel_disease_1|Blau_syndrome	MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.00011	17	154602	rs184545855	0.0021	0.0015	0.0018	0.0023	0.0065	0.0020	0.0020	0.0060	0.0058	4.771e-05	0.0002	0	2.737e-05	0.0157	0.0055	0.0007	0.0020	0.0065	0.0020	0.0020	0.0011	0.0029	0.0071	0.0018	0.0017	0.0052	0.0045	4.812e-05	0	0.0004	0.0003	0.0002	0.0180	0	0.0009	0.0024	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	819.11	27	chr16	50731908	.	C	T	819.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.940e-01;DP=625;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-3.030e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:21,7:28:99:177,0,697	19	0	2	0
chr16	88433561	88433561	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G6091A:p.E2031K,	Brittle cornea syndrome 1, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	132440	Ehlers-Danlos_syndrome|not_provided|Keratoconus_1	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.0	B	.	.	1.000	N	0	N	3.49	T	-0.958	T	0.010	T	0.135	1.056	9.314	-5.66	-1.451	-0.747	13.805	0.020	0.393756546926	.	.	0.0004	0	0	0	0	0	0	0.0010	5.17e-05	8	154602	rs273585622	8.154e-05	7.798e-05	6.351e-05	0.0001	0.0008	6.901e-05	6.422e-05	0.0006	0.0006	0	0	0	5.596e-05	0	0.0004	4.078e-05	5.174e-05	0.0008	3.283e-05	3.281e-05	0	6.712e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	0.775	0.03335	T	0.74	0.04982	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.43	0.05440	T	0.1	0.05810	N	0.063	0.03502	-0.9577	0.39608	T	0.010	0.03719	T	9	0.030807495	0.01209	T	0.393757	0.93246	D	0.020	0.03691	0.266	0.21261	0.132336055621	0.12781	0.12443907478148192	0.12369	.	.	0.288574516773	0.08715	T	0.002085	0.01490	T	-0.622405	0.00106	T	-0.751091	0.03443	T	0.00979798484691624	0.00129	T	0.460354	0.13329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-1.156161	0.00577	0.014	0.47103155907186317	0.03825	0.01060	0.03938	N	AEFBI	0.037174	0.05070	N	-1.87281714798071	0.00390	0.01677623	-1.91014876064469	0.00467	0.02069862	0.338105267768587	0.19555	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.88	-5.66	0.02255	-0.716000	0.05094	-3.057000	0.03100	-1.364000	0.01178	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6497:0.0:0.3503:0.0	13.805	0.62718	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	2560.98	96	chr16	88433561	.	G	A	2560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.035;DP=2038;ExcessHet=0.0000;FS=1.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.681e+00;SOR=0.583	GT:AD:DP:GQ:PL	0/1:116,107:223:99:2575,0,2770	20	0	1	0
chr16	88726377	88726377	A	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon27:c.T3875G:p.F1292C,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	417	1104	1	0	0	1	0.000452694	.	.	1883631	Inborn_genetic_diseases|Lymphatic_malformation_6|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.971	D	0.023	N	1.000	D	2.805	M	2.18	T	-0.905	T	0.140	T	0.883	3.152	16.54	3.67	0.838	6.618	9.566	0.417	0.315154546187	.	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.94e-05	3	154602	rs778813372	7.295e-05	7.046e-05	7.48e-05	7.106e-05	0.0001	6.113e-05	5.705e-05	6.606e-05	6.091e-05	0	2.801e-05	0	0.0001	0	0	7.971e-05	6.898e-05	8.835e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	9.653e-05	2.109e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.023250	0.26477	N	0.427926	0.999395	0.46900	D	3.125	0.87999	M	2.18	0.18875	T	-7.11	0.93999	D	0.892	0.89131	-0.9051	0.47435	T	0.140	0.45866	T	10	0.8973725	0.89093	D	0.315155	0.91306	D	0.417	0.72705	0.622	0.75690	0.296721761885	0.29290	0.7529840936564749	0.75245	.	.	0.612117528915	0.54616	T	0.604055	0.87353	D	0.0908151	0.63282	D	0.0773163	0.75399	D	0.636692456467547	0.37897	D	0.955504	0.83071	D	0.66927165	0.76394	0.5790507	0.75604	0.66927165	0.76395	0.5790507	0.75605	-11.767	0.83697	D	0.3455254332899889	0.44305	0.389	0.58925	A	.	.	4.431241	0.68724	25.3	0.99194614814352688	0.55083	0.97655	0.76193	D	AEFBI	0.847917	0.76475	D	0.571605410910855	0.71407	5.646161	0.463580061333278	0.65594	4.843482	0.962547011834185	0.28630	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	3.67	0.41236	5.761000	0.68452	7.052000	0.57375	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.9142:0.0:0.0857:0.0	9.566	0.38565	873	0.30802	Piezo domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1762.98	35	chr16	88726377	.	A	C	1762.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.821;DP=842;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=-9.610e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1777,0,1389	20	0	1	0
chr17	3481603	3481603	-	A	exonic	ASPA	.	frameshift insertion	ASPA:NM_000049:exon2:c.238dupA:p.M82Nfs*8	Canavan disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	358413	Canavan_Disease,_Familial_Form|Inborn_genetic_diseases|not_provided|Spongy_degeneration_of_central_nervous_system	MedGen:C0751663|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010079,MedGen:C0206307,OMIM:271900,Orphanet:141	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.076e-06	0	0	0	0	1.689e-05	0	0	0.000461	12	26028	rs1057516583	6.161e-06	7.525e-06	8.173e-06	4.129e-06	5.978e-05	2.9e-06	2.1e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	5.398e-06	0	1.162e-05	1.317e-05	1.314e-05	2.574e-05	0	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	429.94	25	chr17	3481603	.	C	CA	429.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=606;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-7.930e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:17,18:35:99:444,0,414	20	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:77,38:130:51:51,0,1486	4	0	16	1
chr17	41569459	41569459	G	A	exonic	KRT9	.	synonymous SNV	KRT9:NM_000226:exon4:c.C1011T:p.N337N,	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	338330	not_provided|Palmoplantar_keratoderma,_epidermolytic	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0013	0.0008	8.74e-05	0	0.0021	0.0014	0.0011	0.0019	0.0012096	187	154602	rs143100726	0.0013	0.0013	0.0013	0.0013	0.0024	0.0013	0.0012	0.0022	0.0020	0.0002	2.236e-05	0	0	0.0013	0.0007	0.0014	0.0010	0.0024	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0006	0.0010	0.0010	0.0002	0	0.0001	0	0	0.0014	0	0.0012	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	924.98	34	chr17	41569459	.	G	A	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.593;DP=806;ExcessHet=0.0000;FS=7.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-1.161e+00;SOR=1.387	GT:AD:DP:GQ:PL	0/1:56,34:90:99:939,0,1494	20	0	1	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,3,0:10:14:.:.:118,114,129,114,129,129,114,129,129,129,114,129,129,129,129,14,14,14,14,14,0,114,129,129,129,129,14,129	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,3,0:10:14:.:.:118,114,129,114,129,129,114,129,129,129,114,129,129,129,129,14,14,14,14,14,0,114,129,129,129,129,14,129	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,3,0:10:14:.:.:118,114,129,114,129,129,114,129,129,129,114,129,129,129,129,14,14,14,14,14,0,114,129,129,129,129,14,129	2	1	3	0
chr17	74918024	74918024	G	A	UTR3	USH1G	NM_001282489:c.*49C>T;NM_173477:c.*49C>T	.	.	Usher syndrome, type 1G, Autosomal recessive	.	0	1491	31	0	0	31	0.0102887	.	.	340115	Usher_syndrome_type_1G|not_provided	MONDO:MONDO:0011748,MedGen:C1847089,OMIM:606943,Orphanet:231169,Orphanet:886|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0014	0.0002	0.0024	0	0	0.0020	0.0011	0.0007	0.0013971	216	154602	rs199648830	0.0011	0.0011	0.0011	0.0012	0.0375	0.0011	0.0011	0.0334	0.0318	0.0012	0.0019	0.0123	0	0	0.0375	0.0007	0.0030	0.0007	0.0012	0.0012	0.0014	0.0010	0.0020	0.0010	0.0010	0.0014	0.0012	0.0003	0	0.0020	0.0121	0	0	0.0272	0.0011	0.0057	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	847.98	40	chr17	74918024	.	G	A	847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.030e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.493;SOR=0.760	GT:AD:DP:GQ:PL	0/1:39,36:75:99:862,0,993	20	0	1	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	6	48	368	1100	0	2568	0.963964	.	.	1182690	not_provided|not_specified|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1502,0,1764	0	12	9	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	3	581	641	245	52	1183	0.49324	.	.	390303	not_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	15842.43	70	chr17	80202434	.	T	A,G	15842.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.587e+00;DP=1428;ExcessHet=3.1640;FS=0.564;InbreedingCoeff=-0.1407;MLEAC=14,1;MLEAF=0.333,0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-5.000e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/2:46,0,28:74:99:690,828,2232,0,1404,1320	8	2	10	0
chr18	22183028	22183028	A	G	exonic	GATA6	.	synonymous SNV	GATA6:NM_005257:exon6:c.A1605G:p.Q535Q,	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant	.	13	1487	18	4	0	26	0.00866667	.	.	243035	Atrioventricular_septal_defect_5|not_provided|Neonatal_insulin-dependent_diabetes_mellitus|not_specified	MONDO:MONDO:0013769,MedGen:C3280939,OMIM:614474|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000599042	0.0015	0	0.0008	0	0	0.0009	0.0033	0.0063	0.001216	188	154602	rs117646477	0.0010	0.0010	0.0007	0.0012	0.0062	0.0009	0.0009	0.0058	0.0056	0.0001	0.0004	0.0128	0	0	0.0061	0.0003	0.0014	0.0062	0.0006	0.0006	0.0006	0.0007	0.0062	0.0005	0.0005	0.0045	0.0039	0	0	0.0002	0.0113	0	0	0.0034	0.0004	0.0005	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	1	1	0.02381	1097.98	33	chr18	22183028	.	A	G	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=860;ExcessHet=0.0000;FS=3.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-2.768e+00;SOR=1.051	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1112,0,1261	20	0	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	.	2	910	527	83	0	693	0.275766	.	.	15589	Protoporphyria,_erythropoietic,_1|Jaundice|Erythema|not_provided	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	7371.28	36	chr18	57580222	.	G	A	7371.28	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.898e+00;DP=793;ExcessHet=2.2868;FS=2.069;InbreedingCoeff=-0.1085;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=18.71;ReadPosRankSum=0.174;SOR=0.832	GT:AD:DP:GQ:PL	0/1:17,26:43:99:737,0,393	11	1	9	0
chr18	59273010	59273010	C	G	exonic	RAX	.	nonsynonymous SNV	RAX:NM_013435:exon1:c.G197C:p.R66T,	Microphthalmia, isolated 3, Autosomal recessive	.	0	1507	15	0	0	15	0.00495213	.	.	488356	Isolated_microphthalmia_3|RAX-related_disorder|not_provided	MONDO:MONDO:0012604,MedGen:C5774181,OMIM:611038,Orphanet:2542|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.433	B	0.11	B	0.001	D	0.901	D	0.805	L	-0.25	T	0.081	D	0.483	T	0.77	3.652	18.57	5.4	2.539	1.040	12.122	0.424	0.885887126186	.	.	0.0008	0	0	0	0	0.0004	0	0.0011	0.000401	62	154602	rs536765190	0.0038	0.0036	0.0039	0.0037	0.0053	0.0037	0.0037	0.0044	0.0043	0.0008	0.0007	3.983e-05	0	0.0022	0.0053	0.0045	0.0029	0.0012	0.0025	0.0025	0.0028	0.0022	0.0047	0.0023	0.0022	0.0043	0.0041	0.0006	0	0.0008	0.0003	0	0.0012	0.0034	0.0047	0.0005	0.0006	0.005	0.63226	D	0.032	0.53426	D	0.08	0.24543	B	0.023	0.19966	B	0.000638	0.42799	D	0.269995	0.900619	0.36163	D	2.125	0.59049	M	-0.26	0.88455	T	-5.44	0.85397	D	0.69	0.69562	0.081	0.83831	D	0.483	0.80270	T	10	0.037849545	0.02164	T	0.885887	0.99133	D	0.424	0.73226	.	.	0.993989602311	0.99392	0.7186332259311994	0.71806	1.13218365852	0.78658	0.832016348839	0.86872	D	0.112314	0.42848	T	-0.140094	0.29875	T	0.025844	0.72008	D	0.0526722523432095	0.05963	T	0.665033	0.27384	T	0.18607499	0.40000	0.20751755	0.45013	0.1932929	0.41033	0.22319286	0.47189	-4.787	0.34440	T	.	.	0.223	0.45409	B	.;.;.	.;.;.	2.183915	0.27838	17.60	0.95000546132480412	0.25960	0.60861	0.31317	D	AEFDBHCI	0.103794	0.20785	N	-0.0870985073548945	0.37959	2.215962	0.0597019761330204	0.42542	2.575024	0.999999992995475	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	-0.097000	0.11010	2.587000	0.33447	0.522000	0.23927	0.000000	0.06391	0.993000	0.31925	0.537000	0.29868	0.0:0.9167:0.0:0.0833	12.122	0.53201	903	0.23940	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	906.98	34	chr18	59273010	.	C	G	906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.55;ReadPosRankSum=-3.560e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,42:95:99:921,0,1301	20	0	1	0
chr19	35845476	35845476	C	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon14:c.G1822A:p.V608I,	Nephrotic syndrome, type 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	549351	Finnish_congenital_nephrotic_syndrome|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|not_specified|not_provided	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.7	T	0.021	B	0.008	B	0.001	N	0.976	N	1.5	L	-2.09	D	-0.773	T	0.419	T	0.061	1.351	10.44	1.15	0.233	0.206	7.767	0.152	0.14240506107	0.0002	0.000399361	0.0008	0.0001	8.876e-05	0	0	9.332e-05	0.0012	0.0050	0.0006015	93	154602	rs367976914	0.0003	0.0003	0.0001	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0.0004	0.0046	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0	0	0	8.82e-05	0	0.0048	0.155	0.30375	T	0.042	0.50809	D	0.021	0.18474	B	0.008	0.13708	B	0.001297	0.39521	N	0.215178	0.975791	0.25413	N	1.395	0.35261	L	-2.09	0.86077	D	0.34	0.03824	N	0.084	0.10340	-0.7732	0.56681	T	0.419	0.76510	T	10	0.009359419	0.00211	T	0.142405	0.82478	D	0.152	0.39956	.	.	0.774140406758	0.77206	0.3686244551593497	0.36776	0.757713701711	0.64085	0.511465907097	0.40427	T	0.327829	0.69830	T	-0.466517	0.00894	T	-0.442355	0.28545	T	0.0128940511416644	0.00221	T	0.669833	0.27843	T	0.085722625	0.19895	0.10824601	0.26072	0.08858965	0.20670	0.09542237	0.22630	-4.851	0.35385	T	0.17195395320445972	0.21703	0.076	0.05979	B	.;.	.;.	1.613968	0.20623	14.83	0.97531160262914396	0.34459	0.37818	0.25848	N	ALL	0.098439	0.19836	N	-0.727764048005726	0.15244	0.7665619	-0.689412544612348	0.17225	0.914936	0.999999964716469	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.56	1.15	0.19876	-0.215000	0.09284	0.438000	0.18395	0.597000	0.34315	0.007000	0.17678	0.825000	0.27162	0.599000	0.31363	0.0:0.7009:0.0:0.2991	7.767	0.28151	824	0.40336	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	36	chr19	35845476	.	C	T	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.220e-01;DP=847;ExcessHet=0.0000;FS=4.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-6.540e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:39,70:109:99:1758,0,838	20	0	1	0
chr19	47680071	47680071	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon6:c.C901T:p.L301F,	.	.	.	.	.	.	.	.	.	.	.	2818486	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.976	D	0.853	P	.	.	0.992	D	1.59	L	0.89	T	-0.861	T	0.165	T	0.463	1.316	10.31	3.17	2.186	2.698	11.538	0.109	0.116390165964	.	.	0.0009	0	0.0021	0	0	0	0	0.0026	0.0001682	26	154602	rs748949915	0.0001	0.0001	5.063e-05	0.0002	0.0018	9.435e-05	8.949e-05	0.0016	0.0015	0	0	0	0	0	0.0002	0	0.0001	0.0018	6.566e-05	6.562e-05	3.855e-05	9.4e-05	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.073	0.34800	T	0.052	0.47581	T	0.976	0.58310	D	0.853	0.60815	P	.	.	.	.	0.991557	0.41416	D	.	.	.	0.89	0.45636	T	-2.0	0.46146	N	0.417	0.45709	-0.8607	0.51213	T	0.165	0.50225	T	9	0.023692131	0.00628	T	0.11639	0.79586	D	0.109	0.30843	0.237	0.16760	0.161926535498	0.15789	0.5791745933888623	0.57846	1.25605872944	0.81899	0.897307217121	0.96136	D	0.095121	0.39557	T	-0.399465	0.02334	T	-0.376659	0.36114	T	0.160743685876379	0.17926	T	0.769823	0.39947	T	0.09856365	0.23249	0.13388865	0.32095	0.09856365	0.23248	0.13388865	0.32094	-5.414	0.41054	T	.	.	0.293	0.55348	B	.;.	.;.	3.161126	0.42834	21.6	0.97184619808767503	0.32736	0.40348	0.26417	N	AEFDBI	0.089358	0.18113	N	0.408941531086339	0.61914	4.399035	0.368455953356687	0.59625	4.142172	0.408726502297523	0.20193	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.25	3.17	0.35510	1.925000	0.39705	3.883000	0.40251	0.547000	0.25779	0.731000	0.28933	0.999000	0.35428	0.853000	0.40368	0.0:0.9066:0.0:0.0934	11.538	0.49901	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1297.98	37	chr19	47680071	.	C	T	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.610e-01;DP=1062;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-4.290e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1312,0,1429	20	0	1	0
chr19	48970958	48970958	C	T	exonic	GYS1	.	nonsynonymous SNV	GYS1:NM_001161587:exon12:c.G1423A:p.E475K	Glycogen storage disease 0, muscle, Autosomal recessive	YES	0	1505	17	0	0	17	0.00561612	.	.	334021	Neuroferritinopathy|Hereditary_hyperferritinemia_with_congenital_cataracts|Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency|not_provided|GYS1-related_disorder	MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846|MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163|MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.788	P	0.542	P	0.000	D	1.000	D	1.335	L	-0.19	T	-0.704	T	0.250	T	0.913	5.087	31	5.34	2.676	2.871	16.920	0.384	0.0243825774406	.	0.000399361	0.0010	0	0.0009	0	0	0.0001	0.0055	0.0059	0.0008021	124	154602	rs561646250	0.0005	0.0005	0.0003	0.0007	0.0064	0.0004	0.0004	0.0059	0.0058	0.0001	0.0002	0	0	0	0.0021	6.566e-05	0.0005	0.0064	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0048	0.06	0.59928	T	0.315	0.19421	T	0.788	0.44546	P	0.472	0.46817	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-0.19	0.65931	T	-1.55	0.40850	N	0.639	0.65159	-0.7035	0.60270	T	0.250	0.61993	T	10	0.0136882365	0.00290	T	0.024383	0.47367	T	0.384	0.70112	0.635	0.77142	0.70587948629	0.70331	0.8152619720347196	0.81482	1.46970682267	0.86517	0.840509355068	0.88171	D	0.42792	0.77723	T	-0.0279745	0.47710	T	0.189652	0.82549	D	0.0642511732591454	0.07820	T	0.965203	0.87125	D	0.37449655	0.58914	0.32205808	0.58149	0.4041045	0.61016	0.3100395	0.57015	-8.129	0.61946	D	0.1734996223189777	0.21984	0.399	0.60783	A	.;.	.;.	5.222600	0.87654	29.3	0.99886871607356864	0.96204	0.82114	0.41392	D	AEFDGBHCI	0.694402	0.65342	D	0.318329892580858	0.57088	3.875081	0.403424435936439	0.61777	4.382758	1.0	0.98316	0.675202	0.55065	0	0.67197	0.64623	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.34	5.34	0.75982	2.684000	0.46618	3.885000	0.40262	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.920	0.86029	704	0.57414	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	943.98	34	chr19	48970958	.	C	T	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.950e-01;DP=760;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.079;SOR=0.416	GT:AD:DP:GQ:PL	0/1:30,39:69:99:958,0,725	20	0	1	0
chr19	49157760	49157760	G	T	upstream	TRPM4	dist=32	.	.	Progressive familial heart block, type IB, Autosomal dominant	.	23	1459	39	1	0	41	0.013856	.	.	350201	Progressive_familial_heart_block|not_provided	MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs112085495	0.0019	0.0018	0.0014	0.0024	0.0169	0.0018	0.0018	0.0161	0.0158	0.0074	0.0007	0.0004	0	0.0001	0.0118	0.0007	0.0028	0.0169	0.0029	0.0029	0.0025	0.0032	0.0124	0.0026	0.0025	0.0099	0.0090	0.0069	0	0.0016	0.0003	0.0002	9.411e-05	0.0034	0.0007	0.0043	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	197.98	33	chr19	49157760	.	G	T	197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.578;DP=482;ExcessHet=0.0000;FS=2.046;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-1.680e+00;SOR=1.262	GT:AD:DP:GQ:PL	0/1:14,7:21:99:212,0,393	20	0	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	.	65	466	590	401	0	1392	0.598967	.	.	334414	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15157.31	51	chr19	57231146	.	G	GC	15157.31	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.507;DP=1282;ExcessHet=3.4384;FS=0.000;InbreedingCoeff=-0.1455;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.460;SOR=0.668	GT:AD:DP:GQ:PL	0/1:27,22:49:99:570,0,735	5	4	12	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	1/1:0,212:212:99:6270,635,0	9	2	10	0
chr20	44406139	44406139	G	A	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon2:c.G197A:p.R66Q	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	905806	Monogenic_diabetes|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.895	L	-4.3	D	1.093	D	0.937	D	0.685	5.409	34	5.17	2.414	7.928	18.735	0.879	0.944980692852	.	0.000199681	2.479e-05	0	8.655e-05	0	0	0	0.0011	6.062e-05	2.59e-05	4	154602	rs561302824	2.395e-05	2.463e-05	1.362e-05	3.438e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0	5.396e-06	3.313e-05	0.0003	6.565e-06	6.561e-06	1.285e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.972	0.77976	D	0.000238	0.47286	D	0.179482	0.999999	0.81001	D	1.365	0.34158	L	-4.3	0.97172	D	-3.49	0.68178	D	0.694	0.70527	1.093	0.99361	D	0.937	0.97934	D	10	0.91567564	0.90928	D	0.944981	0.99615	D	0.879	0.96428	0.759	0.88811	0.949233291065	0.94869	0.8825320018872927	0.88221	2.66830213671	0.98481	0.829861462116	0.86541	D	0.36787	0.99074	T	0.130951	0.67453	D	0.224625	0.84405	D	0.836733818054199	0.49063	D	0.968203	0.88767	D	0.82653296	0.85663	0.70704275	0.82726	0.82653296	0.85665	0.70704275	0.82727	-13.431	0.92375	D	0.6685701204761059	0.74318	0.768	0.77367	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.614376	0.95486	35	0.99950005326567803	0.99938	0.93985	0.59767	D	AEFDBCI	0.959759	0.98024	D	0.796528212300067	0.85890	8.712809	0.778689173862747	0.88275	9.521488	0.999999999999816	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	8.054000	0.89239	11.769000	0.95814	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.735	0.91714	386	0.83455	.;.;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1245.98	40	chr20	44406139	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=875;ExcessHet=0.0000;FS=3.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-5.190e-01;SOR=0.579	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1260,0,1058	20	0	1	0
chr20	49373433	49373433	C	T	exonic	KCNB1	.	synonymous SNV	KCNB1:NM_004975:exon2:c.G2127A:p.E709E,	Epileptic encephalopathy, early infantile, 26, Autosomal dominant	.	427	1094	1	0	0	1	0.00045683	.	.	797993	Developmental_and_epileptic_encephalopathy,_26|not_provided	MONDO:MONDO:0014477,MedGen:C4015119,OMIM:616056,Orphanet:442835|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.426e-05	0	8.643e-05	0	0	1.501e-05	0.0011	0.0004	6.47e-05	10	154602	rs750280554	3.831e-05	3.831e-05	3.267e-05	4.4e-05	0.0004	3.025e-05	2.719e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0003	9.892e-06	6.623e-05	0.0004	3.287e-05	3.284e-05	3.856e-05	2.691e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1692.98	33	chr20	49373433	.	C	T	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.011e+00;DP=814;ExcessHet=0.0000;FS=8.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-5.710e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1707,0,1546	20	0	1	0
chr21	34370648	34370648	T	C	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.T170C:p.I57T,	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant	.	0	1494	28	0	0	28	0.00928382	.	.	21093	not_provided|Cardiac_arrhythmia|Long_QT_syndrome_6|Atrial_fibrillation,_familial,_4|Cardiovascular_phenotype|KCNE2-related_disorder	MedGen:C3661900|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0013370,MedGen:C3150953,OMIM:613693,Orphanet:101016,Orphanet:768|MONDO:MONDO:0012677,MedGen:C1862394,OMIM:611493|MedGen:CN230736|MedGen:CN239320	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.918	D	0.000	D	0.999	D	1.5	L	-3.06	D	0.631	D	0.747	D	0.982	4.449	23.7	5.66	2.147	6.820	15.564	0.863	0.154582131025	0.0004	0.000798722	0.0009	0.0002	0.0010	0	0.0002	0.0011	0.0055	0.0009	0.0008603	133	154602	rs74315448	0.0007	0.0007	0.0006	0.0007	0.0146	0.0006	0.0006	0.0121	0.0111	0.0007	0.0019	0.0012	0	3.744e-05	0.0146	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0006	0.0027	0.0006	0.0005	0.0020	0.0018	0.0002	0	0.0027	0.0012	0	9.413e-05	0.0238	0.0005	0.0038	0.0006	0.002	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.918	0.65394	D	0.000018	0.62929	D	0.065041	0.999357	0.46766	A	2.43	0.70455	M	-3.06	0.92457	D	-3.39	0.66896	D	0.966	0.97643	0.631	0.92307	D	0.747	0.91369	D	10	0.32147172	0.49510	T	0.154582	0.83566	D	0.863	0.95839	.	.	0.958984558582	0.95854	0.8779840351295785	0.87765	0.569522344587	0.53130	0.822051405907	0.85343	D	0.898239	0.97984	D	0.125338	0.66905	D	0.400479	0.92130	D	0.0407778404361376	0.03832	T	0.831417	0.49863	T	0.56191885	0.70616	0.6588679	0.80018	0.5716259	0.71151	0.679703	0.81183	-3.971	0.23368	T	0.3489375475400014	0.44627	0.196	0.41798	B	.	.	4.601744	0.72891	25.9	0.99858453994482799	0.93729	0.96130	0.67670	D	AEFDGBIJ	0.746935	0.68915	D	0.659055776744708	0.76957	6.582887	0.666716435196437	0.79861	7.172661	0.999999999989957	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.66	5.66	0.87293	6.808000	0.74994	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	15.564	0.76018	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	9568.98	33	chr21	34370648	.	T	C	9568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=1574;ExcessHet=0.0000;FS=1.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.138;SOR=0.604	GT:AD:DP:GQ:PL	0/1:343,363:706:99:9583,0,8631	20	0	1	0
chr22	24523618	24523618	G	A	splicing	UPB1	NM_016327:exon9:c.917-1G>A	.	.	Beta-ureidopropionase deficiency, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	0.9999	0.94	439218	UPB1-related_disorder|Deficiency_of_beta-ureidopropionase|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.141	13.12	5.54	2.606	9.583	18.468	.	.	0.0022	0.000399361	0.0019	0.0006	0.0004	0	0.0012	0.0029	0.0022	0.0011	0.0017658	273	154602	rs143493067	0.0019	0.0019	0.0019	0.0019	0.0022	0.0019	0.0018	0.0021	0.0021	0.0003	0.0006	0.0037	0	0.0021	0.0012	0.0022	0.0014	0.0008	0.0016	0.0017	0.0018	0.0015	0.0029	0.0015	0.0014	0.0026	0.0024	0.0004	0	0.0005	0.0049	0	0.0007	0	0.0029	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303191	0.83221	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.163252	0.94702	34	0.99179398220485526	0.54643	0.99703	0.98807	D	AEFBI	.	.	.	1.10783014298156	0.98277	17.85154	0.918486039870524	0.96329	14.56562	0.999999999999898	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.041896	0.00087	0	0.980806	0.86204	5.54	5.54	0.82907	9.745000	0.98071	11.596000	0.93440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0:0.0:1.0:0.0	18.468	0.90711	495	0.76383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1941.98	34	chr22	24523618	.	G	A	1941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=862;ExcessHet=0.0000;FS=2.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.106;SOR=0.941	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1956,0,2132	20	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4542,444,0	4	12	5	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	.	1	149	65	0	11	76	0.179063	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	809.22	77	chrX	133704277	.	GA	G	809.22	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.080e-01;DP=1245;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2718;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.48;ReadPosRankSum=0.142;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,5:42:43:.:.:43,0,732	12	0	9	0