Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES736	WT	HH	HZ	NC
chr1	7830093	7830093	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289862:exon19:c.C3146T:p.T1049I,PER3:NM_001289864:exon19:c.C2186T:p.T729I,PER3:NM_001377275:exon19:c.C3146T:p.T1049I,PER3:NM_001377276:exon19:c.C3122T:p.T1041I,PER3:NM_016831:exon19:c.C3119T:p.T1040I,PER3:NM_001289861:exon20:c.C3089T:p.T1030I,PER3:NM_001289863:exon20:c.C3068T:p.T1023I	.	411	1091	19	1	0	21	0.00953246	.	.	.	707524	not_specified|PER3-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00160147600204	0.0018	0.000399361	0.0015	0.0005	0.0021	0	0	0.0021	0	0.0008	0.0015847	245	154602	rs144178755	0.0013	0.0013	0.0012	0.0013	0.0130	0.0012	0.0012	0.0107	0.0098	0.0008	0.0019	0.0094	0	3.745e-05	0.0130	0.0011	0.0021	0.0009	0.0014	0.0014	0.0014	0.0014	0.0021	0.0012	0.0012	0.0015	0.0013	0.0004	0	0.0021	0.0092	0	0.0002	0.0306	0.0016	0.0038	0.0012	0.02	0.54683	D	0.304	0.24767	T	0.248	0.31148	B	0.067	0.27542	B	0.022261	0.01569	U	7.092960	1	0.08975	N	1.24	0.30952	L	2.77	0.11407	T	-0.6	0.17834	N	0.095	0.11626	-0.9953	0.31218	T	0.022	0.09330	T	10	0.004548222	0.00094	T	0.001601	0.02574	T	0.032	0.07718	.	.	0.381409048467	0.37754	0.24206851073120256	0.24120	0.0997312939476	0.11260	0.417741298676	0.27527	T	0.029279	0.29898	T	-0.586987	0.00175	T	-0.6218	0.11044	T	0.00156240985269351	0.00016	T	0.307569	0.07018	T	0.03576928	0.04273	0.033640638	0.02292	0.030466089	0.02714	0.030782755	0.01578	-6.469	0.50046	T	0.3682492051760109	0.46404	0.176	0.39494	B	.;.;.;.	.;.;.;.	0.685992	0.10548	7.255	0.97017626575826488	0.32010	0.00109	0.00694	N	AEFDGBI	0.024890	0.01614	N	-0.947244314250726	0.09754	0.4630638	-1.06171073015392	0.08464	0.4163116	0.99990284776284	0.45458	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	1.61	0.359	0.15324	0.092000	0.14905	0.190000	0.15733	0.304000	0.19002	0.020000	0.19661	0.000000	0.08366	0.018000	0.11154	0.0:0.6047:0.0:0.3953	2.879	0.05294	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013092	0.020202	0.016304	0.023392	0.000000	0.017241	0.000000	0.015152	0.08333	3189.83	240	chr1	7830093	.	C	T	3189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.235;DP=636;ExcessHet=0;FS=5.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.386;SOR=1.03	GT:AD:DP:GQ:PL	0/1:125,115:240:99:3200,0,3447	5	0	1	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	29426.6	134	chr1	55057360	.	A	G	29426.6	.	AC=12;AF=1;AN=12;DP=936;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=32.09;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,134:134:99:4420,402,0	0	6	0	0
chr1	68431461	68431461	A	G	intronic	RPE65	.	.	.	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	281153	Retinitis_Pigmentosa,_Recessive|Leber_congenital_amaurosis|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2	MedGen:CN239466|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	1.663e-05	0	0	0	0	3.018e-05	0	0	1.94e-05	3	154602	rs548537552	2.874e-05	2.873e-05	2.179e-05	3.576e-05	0.0012	2.152e-05	1.908e-05	0.0006	0.0004	2.989e-05	0	0.0002	0	1.873e-05	0.0012	2.249e-05	6.625e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	972.83	82	chr1	68431461	.	A	G	972.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.233;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-2.404;SOR=0.622	GT:AD:DP:GQ:PL	0/1:42,40:82:99:983,0,1085	5	0	1	0
chr1	92478758	92478759	AG	-	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281295	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1379	0.1555	0.0847	0.0539	0.1853	0.1664	0.1449	0.0666	0.0003074	8	26028	rs768494519	0.1170	0.1190	0.1192	0.1149	0.1278	0.1166	0.1164	0.1272	0.1270	0.1100	0.0644	0.1056	0.0255	0.1368	0.1015	0.1278	0.1084	0.0439	0.1234	0.1186	0.1244	0.1224	0.1384	0.1219	0.1212	0.1360	0.1350	0.1139	0.1836	0.1008	0.1275	0.0302	0.1642	0.1213	0.1384	0.1332	0.0423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2380.76	13	chr1	92478757	.	CAG	C	2380.76	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.805;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=34.01;ReadPosRankSum=0;SOR=1.434	GT:AD:DP:GQ:PL	1/0:0,8:13:99:388,201,184	4	0	1	1
chr1	92478757	92478757	-	AGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	283368	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0327	0.0359	0.0225	0.0439	0.0269	0.0289	0.0242	0.0481	0.0189907	2936	154602	rs371078453	0.0531	0.0615	0.0531	0.0531	0.0744	0.0528	0.0527	0.0720	0.0711	0.0667	0.0529	0.0729	0.0744	0.0562	0.0574	0.0506	0.0558	0.0621	0.0643	0.0678	0.0644	0.0642	0.1236	0.0632	0.0627	0.1151	0.1117	0.0807	0.0320	0.0678	0.0861	0.1236	0.0495	0.0699	0.0516	0.0513	0.0704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2380.76	13	chr1	92478757	.	C	CAGAGAGAG	2380.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.805;DP=175;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=34.01;ReadPosRankSum=0;SOR=1.434	GT:AD:DP:GQ:PL	0/1:0,5:13:99:388,212,302	3	0	2	1
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	378.72	9	chr1	100196431	.	GAAAAA	G	378.72	.	AC=2;AF=0.167;AN=12;DP=135;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.25;SOR=2.093	GT:AD:DP:GQ:PL	1/1:0,9:9:28:398,28,0	5	1	0	0
chr1	103005900	103005900	-	CAT	intronic	COL11A1	.	.	.	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177630	Fibrochondrogenesis_1|Connective_tissue_disorder|not_provided|Stickler_Syndrome,_Dominant|Marshall_syndrome|not_specified	MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MedGen:CN239460|MONDO:MONDO:0007949,MedGen:C0265235,OMIM:154780,Orphanet:560|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0096	0.0697	0.0037	0	0.0006	0.0043	0.0060	0.0054	0.0001488	23	154602	rs746011545	0.0057	0.0054	0.0058	0.0055	0.0711	0.0055	0.0055	0.0686	0.0677	0.0711	0.0042	0.0080	5.471e-05	0.0012	0.0049	0.0039	0.0079	0.0056	0.0220	0.0220	0.0226	0.0215	0.0698	0.0214	0.0212	0.0677	0.0668	0.0698	0.0033	0.0088	0.0084	0	0.0014	0.0034	0.0034	0.0125	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6167.43	32	chr1	103005900	.	C	CCAT	6167.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.616;DP=364;ExcessHet=6.1542;FS=2.641;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.27;ReadPosRankSum=0.33;SOR=0.865	GT:AD:DP:GQ:PL	0/1:20,12:32:99:423,0,759	5	0	1	0
chr1	114679616	114679616	T	A	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon6:c.A947T:p.K316I,AMPD1:NM_000036:exon7:c.A860T:p.K287I	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	0	1459	61	2	0	65	0.0217901	.	.	YES	98249	not_provided|not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|Muscle_AMP_deaminase_deficiency|AMPD1-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.881	.	0.0241	0.0109824	0.0282	0.0045	0.0142	0	0.0878	0.0350	0.0407	0.0159	0.0274317	4241	154602	rs34526199	0.0316	0.0317	0.0319	0.0314	0.0335	0.0314	0.0313	0.0332	0.0331	0.0044	0.0159	0.0238	2.519e-05	0.0803	0.0196	0.0335	0.0299	0.0155	0.0265	0.0264	0.0249	0.0281	0.0344	0.0258	0.0255	0.0332	0.0327	0.0054	0.1297	0.0164	0.0235	0.0006	0.0847	0.0170	0.0344	0.0224	0.0116	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.81	0.95479	H	-1.99	0.85320	D	-6.86	0.93135	D	0.351	0.43320	0.831	0.94790	D	0.798	0.93174	D	10	0.005099088	0.00110	T	.	.	.	0.881	0.96502	.	.	.	.	0.7484147129401701	0.74787	0.601013901406	0.55159	0.770982503891	0.77572	T	0.791477	0.94587	D	-0.0477223	0.44792	T	0.18795	0.82454	D	0.867863833904266	0.51786	D	0.757724	0.41106	T	0.88190454	0.89824	0.7822354	0.87166	0.87735844	0.89453	0.76244676	0.85966	-14.491	0.94816	D	0.6649270238293095	0.73900	0.958	0.89404	P	.;.	.;.	5.285014	0.88739	29.7	0.99566596249392691	0.72136	0.98422	0.82613	D	AEFBI	0.925823	0.90596	D	0.954341640209264	0.94156	12.54345	0.889445809054819	0.95096	13.308	0.99997604940268	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.63	5.63	0.86108	8.017000	0.88732	7.809000	0.69375	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.148	0.81406	809	0.43032	.;.	TSPAN2|NRAS|DENND2C	Artery_Tibial|Esophagus_Mucosa|Testis	.	.	rs34526199	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	0.015625	0.010101	0.001359	0.026316	0.000000	0.034483	0.030675	0.022727	0.08333	797.83	49	chr1	114679616	.	T	A	797.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.15;DP=214;ExcessHet=0;FS=4.395;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.326;SOR=0.719	GT:AD:DP:GQ:PL	0/1:15,34:49:99:808,0,276	5	0	1	0
chr1	145927447	145927447	C	T	ncRNA_exonic	LIX1L-AS1	.	.	.	.	1	1437	82	2	0	86	0.0290541	.	.	YES	39421	Radial_aplasia-thrombocytopenia_syndrome|RBM8A-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0010121,MeSH:C536940,MedGen:C0175703,OMIM:274000,Orphanet:3320|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-05	0	0	0	0	2.117e-05	0	0	6.5e-06	1	154602	rs139428292	0.0260	0.0260	0.0263	0.0257	0.0323	0.0258	0.0257	0.0300	0.0299	0.0045	0.0126	0.0206	2.53e-05	0.0161	0.0323	0.0302	0.0236	0.0073	0.0184	0.0185	0.0193	0.0176	0.0291	0.0179	0.0176	0.0280	0.0276	0.0056	0.0396	0.0148	0.0159	0.0004	0.0181	0.0238	0.0291	0.0213	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1262.83	100	chr1	145927447	.	C	T	1262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.149;DP=294;ExcessHet=0;FS=6.861;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.262;SOR=0.278	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1273,0,1125	5	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3808.07	47	chr1	158668075	.	GAAA	G	3808.07	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.229;DP=303;ExcessHet=6.1542;FS=4.067;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.425;SOR=0.994	GT:AD:DP:GQ:PL	0/1:13,25:47:99:1053,0,490	3	1	2	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9869.5	75	chr1	161223055	.	CCACACA	C	9869.5	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.2;DP=553;ExcessHet=3.1439;FS=3.126;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=26.39;ReadPosRankSum=0.998;SOR=0.873	GT:AD:DP:GQ:PL	0/1:0,30:75:99:2723,1512,1413	4	0	2	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3299.33	42	chr1	168293284	.	A	AGT	3299.33	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.256;DP=397;ExcessHet=0.1336;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/1:7,35:42:49:829,0,49	1	0	5	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.4167	6078.5	87	chr1	169529737	.	T	C	6078.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.49;DP=423;ExcessHet=0.7136;FS=5.775;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=0.267;SOR=0.984	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2846,261,0	2	1	3	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.3333	10779.9	205	chr1	169542517	.	T	C	10779.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.72;DP=729;ExcessHet=0.1336;FS=0.541;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.304;SOR=0.734	GT:AD:DP:GQ:PL	1/1:0,205:205:99:6831,615,0	3	1	2	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3860.53	59	chr1	179889309	.	G	A	3860.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.563;DP=312;ExcessHet=2.3007;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.647;SOR=0.686	GT:AD:DP:GQ:PL	0/1:32,27:59:99:628,0,836	1	1	4	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5	9351.53	95	chr1	196690107	.	C	T	9351.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.555;DP=635;ExcessHet=2.3007;FS=1.896;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=15.8;ReadPosRankSum=0.294;SOR=0.862	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1200,0,1248	1	1	4	0
chr1	216365049	216365049	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon4:c.G688A:p.V230M,USH2A:NM_206933:exon4:c.G688A:p.V230M	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	4	1492	25	1	0	27	0.00896712	.	.	.	57734	Usher_syndrome_type_2A|Retinal_dystrophy|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.177	.	0.0159	0.0101837	0.0155	0.0032	0.0058	0.0006	0.0236	0.0179	0.0210	0.0244	0.0155043	2397	154602	rs45500891	0.0206	0.0206	0.0205	0.0206	0.0223	0.0204	0.0203	0.0221	0.0220	0.0035	0.0071	0.0151	0.0041	0.0206	0.0054	0.0223	0.0200	0.0221	0.0140	0.0140	0.0136	0.0144	0.0274	0.0135	0.0133	0.0236	0.0221	0.0044	0.0219	0.0109	0.0147	0.0023	0.0218	0	0.0193	0.0123	0.0274	0.114	0.32453	T	0.172	0.49390	T	0.96	0.55278	D	0.475	0.46927	P	0.955901	0.07686	U	1.035380	0.999952	0.19072	N	1.355	0.33814	L	-0.9	0.74896	T	0.0	0.07444	N	0.054	0.12913	-0.9170	0.45958	T	0.123	0.42483	T	10	0.004126817	0.00081	T	.	.	.	0.177	0.44549	.	.	.	.	0.3191694892926489	0.31829	0.0724468966044	0.08123	0.27502989769	0.06809	T	0.13709	0.46984	T	-0.544159	0.00316	T	-0.536837	0.18608	T	0.00704668788617774	0.00080	T	0.808019	0.45805	T	0.029064309	0.02342	0.048151325	0.07091	0.026079444	0.01619	0.045183644	0.06024	-5.087	0.37769	T	.	.	0.085	0.10400	B	.;.	.;.	0.673357	0.10417	7.140	0.94560702467159186	0.25086	0.06734	0.12756	N	AEFI	0.035372	0.04540	N	-0.815130846756201	0.12924	0.6331748	-0.863792418669681	0.12956	0.6694725	1.44410554879521E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	-1.42	0.08446	-0.039000	0.12076	-0.328000	0.09912	-0.907000	0.02291	0.014000	0.18986	0.000000	0.08366	0.682000	0.33600	0.4876:0.2477:0.2647:0.0	5.632	0.16796	613	0.66686	LamG-like jellyroll fold;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003528	0.000000	0.000000	0.000000	0.050000	0.000000	0.012195	0.003788	0.08333	603.83	75	chr1	216365049	.	C	T	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=1.11;SOR=0.775	GT:AD:DP:GQ:PL	0/1:49,26:75:99:614,0,1200	5	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	18981.6	104	chr1	226735804	.	G	T	18981.6	.	AC=12;AF=1;AN=12;DP=581;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=33.48;SOR=0.84	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3372,312,0	0	6	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.5833	6901.9	70	chr1	226736237	.	A	C	6901.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.25;DP=341;ExcessHet=0.7136;FS=8.988;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=-0.632;SOR=1.167	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2445,210,0	1	2	3	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5266.87	44	chr1	226737174	.	ACTGCCGCTG	A	5266.87	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.465;DP=294;ExcessHet=0.7136;FS=8.136;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=27.01;ReadPosRankSum=-0.834;SOR=0.333	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1968,134,0	1	2	3	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1390.15	57	chr1	236897645	.	CT	C	1390.15	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.077;DP=311;ExcessHet=3.1439;FS=1.201;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.717;SOR=0.796	GT:AD:DP:GQ:PL	0/1:23,28:57:99:594,0,403	3	0	3	0
chr2	10768726	10768726	C	T	exonic	ATP6V1C2	.	nonsynonymous SNV	ATP6V1C2:NM_001039362:exon6:c.C386T:p.A129V,ATP6V1C2:NM_144583:exon6:c.C386T:p.A129V	.	431	1088	3	0	0	3	0.00137678	.	.	.	2342162	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.0105355701003	7.7e-05	.	0.0002	0	0	0.0001	0	0.0002	0.0011	6.06e-05	0.0001294	20	154602	rs371007689	0.0001	0.0001	0.0002	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	8.961e-05	0	3.826e-05	0	1.878e-05	0.0009	0.0002	0.0001	4.637e-05	0.0001	0.0001	0.0001	6.712e-05	0.0002	6.505e-05	5.318e-05	0.0001	7.893e-05	0	0	0.0001	0	0	9.42e-05	0	0.0002	0.0005	0	0.009	0.57480	D	0.05	0.48080	T	0.89	0.48942	P	0.322	0.41795	B	0.001539	0.38731	N	0.259454	0.902033	0.36195	D	0.91	0.23283	L	0.89	0.45636	T	-1.89	0.45222	N	0.102	0.20129	-0.8961	0.48380	T	0.100	0.37213	T	10	0.21684864	0.38279	T	0.010536	0.27195	T	0.077	0.22490	.	.	0.453588565359	0.44983	0.3095173161531783	0.30864	0.179474252234	0.20186	0.389189988375	0.23555	T	0.022538	0.17359	T	-0.356263	0.04345	T	-0.453331	0.27329	T	0.095609894201499	0.11867	T	0.859314	0.55085	D	0.14614101	0.33468	0.17261438	0.39529	0.14614101	0.33467	0.17261438	0.39528	-5.084	0.38952	T	.	.	0.108	0.21877	B	.;.;.;.	.;.;.;.	3.990118	0.58720	24.0	0.99823740242084635	0.90590	0.92101	0.54947	D	AEFDGBI	0.445790	0.50212	N	0.241582936671042	0.53224	3.492302	0.290431930706035	0.54978	3.661587	0.999999993867611	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	2.941000	0.48703	2.621000	0.33635	0.599000	0.40250	0.957000	0.33433	0.992000	0.31684	0.556000	0.30317	0.0:1.0:0.0:0.0	16.239	0.82222	753	0.51500	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1365.83	111	chr2	10768726	.	C	T	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.752;DP=301;ExcessHet=0;FS=3.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.755;SOR=0.409	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1376,0,1298	5	0	1	0
chr2	27378976	27378976	G	A	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon2:c.C104T:p.A35V,ZNF513:NM_144631:exon3:c.C290T:p.A97V	.	0	1519	3	0	0	3	0.000986518	.	.	.	193737	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	.	.	.	.	.	.	.	.	0.072	.	0.0012	0.000599042	0.0018	0.0011	8.932e-05	0	0.0030	0.0019	0.0133	0.0025	0.0016494	255	154602	rs35554630	0.0018	0.0018	0.0017	0.0019	0.0025	0.0017	0.0017	0.0023	0.0021	0.0005	0.0003	0.0010	0	0.0030	0.0010	0.0019	0.0015	0.0025	0.0017	0.0017	0.0016	0.0017	0.0026	0.0015	0.0014	0.0022	0.0021	0.0008	0	0.0004	0.0020	0	0.0017	0	0.0026	0.0009	0.0025	0.773	0.08736	T	1.0	0.01155	T	0.954	0.54400	P	0.165	0.35019	B	0.000227	0.47286	D	0.000000	0.92495	0.27203	N	0.695	0.17993	N	3.35	0.54540	T	0.12	0.13611	N	0.249	0.34012	-1.0632	0.10974	T	0.067	0.27674	T	10	0.00825718	0.00187	T	.	.	.	0.072	0.21020	.	.	0.44480088601	0.44098	0.13193566789641087	0.13118	0.271006728325	0.29621	0.683616936207	0.64789	T	0.011922	0.10567	T	-0.419231	0.01730	T	-0.378651	0.35880	T	0.0214756073631817	0.00851	T	0.641436	0.27420	T	0.06235588	0.13014	0.059310336	0.11111	0.061114833	0.12617	0.059797067	0.11283	-3.76	0.24355	T	.	.	0.128	0.36811	B	.;.;.	.;.;.	2.723595	0.35633	19.95	0.97320905295614135	0.33375	0.75608	0.37028	D	AEFDBCI	0.087934	0.17828	N	-0.096154067479943	0.37560	2.187015	-0.018632513520922	0.38873	2.296604	0.999999862799367	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.48	3.59	0.40253	2.548000	0.45455	7.508000	0.59580	-0.186000	0.09761	0.945000	0.32849	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.8328:0.1672	12.606	0.55879	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.08333	841.83	49	chr2	27378976	.	G	A	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=241;ExcessHet=0;FS=2.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.493;SOR=1.115	GT:AD:DP:GQ:PL	0/1:19,30:49:99:852,0,509	5	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.5	8858.53	121	chr2	44320435	.	G	A	8858.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.156;DP=609;ExcessHet=2.3007;FS=3.223;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.368;SOR=0.511	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1612,0,1583	1	1	4	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	668.79	70	chr2	48713933	.	CA	C	668.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.675;DP=241;ExcessHet=0;FS=0.984;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	0/1:48,22:70:99:679,0,1705	5	0	1	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1506.51	29	chr2	69326243	.	GA	G	1506.51	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.321;DP=202;ExcessHet=3.1439;FS=2.077;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.116;SOR=0.541	GT:AD:DP:GQ:PL	0/1:17,12:29:99:231,0,352	2	0	4	0
chr2	71564154	71564154	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon23:c.C2410T:p.R804W,DYSF:NM_001130977:exon23:c.C2410T:p.R804W,DYSF:NM_001130984:exon23:c.C2413T:p.R805W,DYSF:NM_001130986:exon23:c.C2413T:p.R805W,DYSF:NM_001130455:exon24:c.C2455T:p.R819W,DYSF:NM_001130978:exon24:c.C2452T:p.R818W,DYSF:NM_001130980:exon24:c.C2503T:p.R835W,DYSF:NM_001130981:exon24:c.C2503T:p.R835W,DYSF:NM_001130983:exon24:c.C2455T:p.R819W,DYSF:NM_001130985:exon24:c.C2506T:p.R836W,DYSF:NM_001130987:exon24:c.C2506T:p.R836W,DYSF:NM_003494:exon24:c.C2452T:p.R818W,DYSF:NM_001130979:exon25:c.C2545T:p.R849W,DYSF:NM_001130982:exon25:c.C2548T:p.R850W	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	558257	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.536	0.167378816963	.	.	0.0002	0	0	0	0	4.495e-05	0	0.0012	0.0001488	23	154602	rs749002214	0.0001	0.0001	8.031e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0015	2.987e-05	0	0	0	0	0.0002	2.608e-05	0.0003	0.0018	6.569e-05	6.566e-05	6.422e-05	6.723e-05	0.0012	3.516e-05	2.615e-05	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	4.409e-05	0	0.0012	0.019	0.59928	D	0.021	0.58089	D	0.994	0.90584	D	0.764	0.66722	P	0.000049	0.53742	D	0.000000	0.849286	0.35195	D	2.125	0.59049	M	-0.52	0.70717	T	-2.99	0.63901	D	0.648	0.72209	-0.1015	0.80064	T	0.398	0.75045	T	10	0.38280788	0.54320	T	0.167379	0.84576	D	0.536	0.80545	0.581	0.70733	0.798345608628	0.79646	0.640884457908599	0.64023	0.637325117168	0.57480	0.427721142769	0.28897	T	0.69553	0.91186	D	-0.22069	0.17900	T	-0.108797	0.62707	T	0.201194196939468	0.20481	T	0.960404	0.85218	D	0.6509105	0.75413	0.37039867	0.62290	0.7278608	0.79604	0.4918673	0.70607	-8.301	0.64865	D	0.5347221036761354	0.60514	0.156	0.44240	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.151239	0.62272	24.4	0.99917904797258528	0.98518	0.56423	0.30113	D	AEFDBIJ	0.552763	0.56429	D	0.148589235418652	0.48745	3.083053	0.0726120494585545	0.43176	2.624898	0.999944340638594	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.29	0.774	0.17665	0.187000	0.16806	.	.	0.599000	0.40250	0.717000	0.28791	1.000000	0.68203	0.993000	0.69303	0.6306:0.3694:0.0:0.0	12.690	0.56337	476	0.77720	.;.;.;.;Ferlin B-domain|Ferlin B-domain;.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	974.83	100	chr2	71564154	.	C	T	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.821;SOR=0.743	GT:AD:DP:GQ:PL	0/1:58,42:100:99:985,0,1379	5	0	1	0
chr2	71570214	71570214	C	T	intronic	DYSF	.	.	.	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	250783	Miyoshi_myopathy|not_provided|Limb-girdle_muscular_dystrophy,_recessive|Qualitative_or_quantitative_defects_of_dysferlin|not_specified	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0055	0.00239617	0.0013	0.0138	0.0004	0	0	7.494e-05	0	0.0002	0.0011707	181	154602	rs148732505	0.0005	0.0005	0.0006	0.0005	0.0139	0.0005	0.0005	0.0129	0.0125	0.0139	0.0007	0	0	0	0.0003	0.0002	0.0008	0.0003	0.0043	0.0043	0.0043	0.0044	0.0141	0.0041	0.0039	0.0131	0.0127	0.0141	0	0.0032	0	0	0	0	0.0003	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	982.83	79	chr2	71570214	.	C	T	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=270;ExcessHet=0;FS=2.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.217;SOR=0.437	GT:AD:DP:GQ:PL	0/1:43,36:79:99:993,0,1118	5	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.875	581.47	7	chr2	113062899	.	T	C	581.47	.	AC=7;AF=0.875;AN=8;BaseQRankSum=1.07;DP=26;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.875;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.712;SOR=0.627	GT:AD:DP:GQ:PL	0/1:2,5:7:60:189,0,60	0	3	1	2
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	437.38	3	chr2	113062953	.	A	G	437.38	.	AC=7;AF=0.7;AN=10;BaseQRankSum=0;DP=16;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;MQRankSum=0;QD=33.64;ReadPosRankSum=0.967;SOR=0.941	GT:AD:DP:GQ:PL	0/1:1,2:3:34:76,0,34	1	3	1	1
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8	339.4	2	chr2	113063003	.	C	A	339.4	.	AC=8;AF=0.8;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.7;MQ=60;QD=30.85;SOR=1.27	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	4	0	1
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	251.17	3	chr2	113063078	.	A	T	251.17	.	AC=6;AF=1;AN=6;DP=10;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=31.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	0	3	0	3
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	257.17	3	chr2	113063095	.	A	G	257.17	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=32.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	0	3	0	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|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	119.38	2	chr2	113063237	.	C	G	119.38	.	AC=4;AF=1;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=29.84;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	2	0	4
chr2	120955394	120955394	G	A	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon4:c.G232A:p.A78T,GLI2:NM_001371271:exon5:c.G607A:p.A203T,GLI2:NM_001374353:exon5:c.G607A:p.A203T,GLI2:NM_005270:exon5:c.G607A:p.A203T	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	266537	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_provided|Inborn_genetic_diseases|GLI2-related_disorder	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0170093411846	0.0013	0.000399361	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0004	0.0006468	100	154602	rs147044066	0.0012	0.0012	0.0012	0.0012	0.0015	0.0011	0.0011	0.0014	0.0014	0.0003	0.0005	0	2.523e-05	0.0002	0.0003	0.0015	0.0012	0.0001	0.0008	0.0008	0.0008	0.0009	0.0015	0.0007	0.0007	0.0012	0.0011	0.0003	0	0.0009	0	0	9.432e-05	0	0.0015	0.0005	0.0004	0.426	0.09658	T	0.14	0.33554	T	0.004	0.12183	B	0.003	0.08700	B	0.191183	0.16842	N	0.622381	1	0.19694	N	0.05	0.08135	N	-0.27	0.67367	T	-1.55	0.37566	N	0.182	0.19728	-1.0203	0.23616	T	0.109	0.39344	T	10	0.009380072	0.00212	T	0.017009	0.38529	T	0.074	0.21613	.	.	0.448695639987	0.44491	0.4597340873837687	0.45891	0.317064055996	0.33956	0.285422563553	0.08260	T	0.381759	0.74400	T	-0.493352	0.00623	T	-0.51682	0.20618	T	0.00474816837533812	0.00051	T	0.686231	0.29475	T	0.035909805	0.04316	0.06290863	0.12382	0.036372304	0.04462	0.06325516	0.12503	-4.033	0.24296	T	.	.	0.066	0.02065	B	.;.	.;.	0.364820	0.07376	3.995	0.94436019677811123	0.24855	0.12982	0.17595	N	AEFDBCI	0.124018	0.23989	N	-1.41020274204792	0.02548	0.112675	-1.35902464139531	0.03700	0.1731625	0.999601793314814	0.40866	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.73	-0.309	0.12135	0.733000	0.25754	.	.	-0.681000	0.04224	0.027000	0.20232	0.000000	0.08366	0.091000	0.17840	0.6091:0.0:0.3909:0.0	10.253	0.42557	693	0.58582	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1991.83	143	chr2	120955394	.	G	A	1991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.945;DP=503;ExcessHet=0;FS=5.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.275;SOR=0.384	GT:AD:DP:GQ:PL	0/1:62,81:143:99:2002,0,1528	5	0	1	0
chr2	135787999	135787999	C	G	UTR3	LCT	NM_002299:c.*325G>C	.	.	Lactase deficiency, congenital, Autosomal recessive	863	649	7	3	0	13	0.00991609	.	.	.	282503	Congenital_lactase_deficiency|Lactose_intolerance	MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690|Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0167732	.	.	.	.	.	.	.	.	0.0028137	435	154602	rs62170085	0.0172	0.0121	0.0154	0.0188	0.0344	0.0168	0.0166	0.0312	0.0299	0.0032	0.0344	0.0389	0.0031	0.0197	0.0339	0.0131	0.0177	0.0305	0.0135	0.0135	0.0123	0.0147	0.0312	0.0130	0.0128	0.0271	0.0255	0.0033	0	0.0282	0.0392	0.0021	0.0213	0.0170	0.0136	0.0142	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	70.86	8	chr2	135787999	.	C	G	70.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.54;DP=57;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.135;SOR=1.27	GT:AD:DP:GQ:PL	0/1:5,3:8:81:81,0,149	5	0	1	0
chr2	135804884	135804884	A	G	exonic	LCT	.	synonymous SNV	LCT:NM_002299:exon10:c.T4347C:p.F1449F	Lactase deficiency, congenital, Autosomal recessive	0	1459	61	2	0	65	0.0217901	.	.	.	281860	Lactose_intolerance|not_provided|LCT-related_disorder|Congenital_lactase_deficiency	Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|.|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0087	0.0011	0.0064	0	0.0188	0.0107	0.0099	0.0076	0.0083958	1298	154602	rs17699796	0.0079	0.0079	0.0075	0.0082	0.0165	0.0077	0.0077	0.0138	0.0128	0.0012	0.0057	0.0121	2.519e-05	0.0180	0.0165	0.0078	0.0079	0.0078	0.0078	0.0078	0.0070	0.0086	0.0101	0.0074	0.0073	0.0094	0.0092	0.0013	0	0.0067	0.0127	0	0.0225	0.0272	0.0101	0.0104	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.011581	0.005051	0.014946	0.011696	0.100000	0.025862	0.018293	0.003788	0.08333	2664.83	177	chr2	135804884	.	A	G	2664.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=354;ExcessHet=0;FS=4.389;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-1.372;SOR=1.054	GT:AD:DP:GQ:PL	0/1:83,94:177:99:2675,0,2243	5	0	1	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1501.28	29	chr2	151546001	.	T	TA	1501.28	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.024;DP=279;ExcessHet=1.383;FS=1.279;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.046;SOR=0.565	GT:AD:DP:GQ:PL	1/0:6,12:29:78:378,78,132	4	0	2	0
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1501.28	29	chr2	151546001	.	T	TAA	1501.28	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.024;DP=279;ExcessHet=1.383;FS=1.279;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.046;SOR=0.565	GT:AD:DP:GQ:PL	0/1:6,11:29:78:378,83,223	2	0	4	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	8	1446	61	7	0	75	0.0252781	.	.	.	136097	not_provided|Nephronophthisis_12|Asphyxiating_thoracic_dystrophy_4|not_specified|Nephronophthisis|Jeune_thoracic_dystrophy|Connective_tissue_disorder	MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.000000	0.014946	0.043860	0.050000	0.017241	0.021341	0.030303	0.08333	1161.83	75	chr2	165917310	.	G	A	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.436;DP=249;ExcessHet=0;FS=2.111;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.668;SOR=0.435	GT:AD:DP:GQ:PL	0/1:28,47:75:99:1172,0,574	5	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2416.43	11	chr2	169294717	.	TAAA	T	2416.43	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.21;DP=335;ExcessHet=0;FS=7.732;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=25.71;ReadPosRankSum=-0.145;SOR=0.829	GT:AD:DP:GQ:PL	1/0:0,7:11:57:345,62,57	2	0	4	0
chr2	169294718	169294718	A	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282759	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.0121	0.0063	0.0120	0.0029	0.0051	0.0111	0.0077	0.0003074	8	26028	rs766367371	0.0646	0.0951	0.0648	0.0645	0.1291	0.0641	0.0639	0.1251	0.1234	0.1202	0.1291	0.0617	0.0743	0.0575	0.0533	0.0598	0.0754	0.0551	0.3357	0.3394	0.3363	0.3350	0.4615	0.3327	0.3315	0.4502	0.4456	0.4489	0.3239	0.4615	0.2703	0.3170	0.2210	0.2936	0.2726	0.3467	0.2235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2416.43	11	chr2	169294717	.	TA	T	2416.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=335;ExcessHet=0;FS=7.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.71;ReadPosRankSum=-0.145;SOR=0.829	GT:AD:DP:GQ:PL	0/1:0,3:11:57:345,232,200	5	0	1	0
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G,PJVK:NM_001369912:exon6:c.C793G:p.R265G,PJVK:NM_001042702:exon7:c.C793G:p.R265G,PJVK:NM_001353775:exon7:c.C802G:p.R268G,PJVK:NM_001353777:exon7:c.C316G:p.R106G,PJVK:NM_001353778:exon7:c.C316G:p.R106G	.	0	1161	119	13	229	374	0.0587758	.	.	.	53039	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59|not_specified	MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	.	0.0393371	0.0553	0.0391	0.0314	0.0049	0.0783	0.0665	0.0667	0.0532	0.0519463	8031	154602	rs17304212	0.0653	0.0654	0.0653	0.0653	0.0700	0.0649	0.0648	0.0696	0.0694	0.0385	0.0339	0.0512	0.0082	0.0791	0.0626	0.0700	0.0614	0.0565	0.0558	0.0558	0.0556	0.0559	0.0682	0.0548	0.0544	0.0666	0.0659	0.0400	0.0099	0.0433	0.0510	0.0044	0.0865	0.0544	0.0682	0.0610	0.0542	0.035	0.43708	D	0.212	0.26549	T	0.268	0.31720	B	0.074	0.28220	B	0.000358	0.45440	U	0.089808	0.965609	0.25931	N	0.69	0.16971	N	0.21	0.59983	T	0.38	0.03579	N	0.203	0.22486	-1.0725	0.08873	T	0.014	0.05705	T	10	0.0028193295	0.00045	T	.	.	.	0.176	0.44373	.	.	.	.	0.408683402898632	0.40784	0.209859520089	0.23458	0.286527961493	0.08419	T	0.047728	0.27809	T	-0.418119	0.01759	T	-0.322324	0.42320	T	0.010165578161089	0.00137	T	0.811219	0.46271	T	0.11662337	0.27505	0.11295493	0.27256	0.10953706	0.25895	0.12079491	0.29148	-3.401	0.15070	T	0.14916472889405896	0.17422	0.096	0.25914	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.258701	0.44559	22.0	0.99623633323306127	0.75594	0.96974	0.71966	D	AEFI	0.604832	0.59578	D	0.0824565520564724	0.45644	2.81763	0.272322233914736	0.53928	3.559673	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	.	.	.	.	rs17304212	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	6598.69	106	chr2	178461008	.	C	G	6598.69	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.85;DP=473;ExcessHet=0.7136;FS=0.825;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.557;SOR=0.748	GT:AD:DP:GQ:PL	1/0:0,54:106:99:3152,1645,1483	2	0	4	0
chr2	178461008	178461008	C	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799T:p.R267C,PJVK:NM_001369912:exon6:c.C793T:p.R265C,PJVK:NM_001042702:exon7:c.C793T:p.R265C,PJVK:NM_001353775:exon7:c.C802T:p.R268C,PJVK:NM_001353777:exon7:c.C316T:p.R106C,PJVK:NM_001353778:exon7:c.C316T:p.R106C	.	0	1161	119	13	229	374	0.0587758	.	.	.	53040	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	.	0.0631	0.028754	0.0580	0.0119	0.0384	0.0001	0.0753	0.0824	0.0644	0.0231	0.0547923	8471	154602	rs17304212	0.0713	0.0714	0.0724	0.0703	0.0815	0.0710	0.0708	0.0811	0.0809	0.0106	0.0417	0.0512	0.0001	0.0739	0.0531	0.0815	0.0631	0.0233	0.0545	0.0545	0.0555	0.0534	0.0833	0.0535	0.0531	0.0815	0.0807	0.0143	0.0548	0.0524	0.0522	0.0006	0.0745	0.0238	0.0833	0.0501	0.0205	0.005	0.63226	D	0.052	0.47581	T	0.988	0.62325	D	0.679	0.53442	P	0.000358	0.45440	U	0.089808	0.926253	0.36829	D	0.69	0.16971	N	0.17	0.60485	T	-0.67	0.19297	N	0.22	0.24634	-0.9928	0.31880	T	0.016	0.06473	T	10	0.0028128922	0.00044	T	.	.	.	0.235	0.53788	.	.	.	.	0.4432695074346097	0.44244	0.502497821918	0.48607	0.325919628143	0.14317	T	0.070157	0.33889	T	-0.503671	0.00545	T	-0.434577	0.29416	T	0.0152478500945219	0.00335	T	0.827017	0.49049	T	0.107861176	0.25505	0.054622885	0.09429	0.107148804	0.25336	0.06746118	0.13960	-4.784	0.34404	T	0.27187868743608723	0.36562	0.122	0.37293	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.073661	0.84639	28.4	0.99891420028298228	0.96513	0.96357	0.68743	D	AEFI	0.573929	0.57692	D	0.488531693280481	0.66418	4.94768	0.560315800465855	0.72118	5.759705	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	FKBP7|FKBP7|FKBP7|PLEKHA3|FKBP7|RBM45|DFNB59	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Kidney_Cortex|Testis	DFNB59	Testis	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	6598.69	106	chr2	178461008	.	C	T	6598.69	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=473;ExcessHet=0.7136;FS=0.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.557;SOR=0.748	GT:AD:DP:GQ:PL	0/1:0,52:106:99:3152,1507,1351	5	0	1	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	577.49	69	chr2	178535858	.	GA	G	577.49	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.057;DP=615;ExcessHet=6.1542;FS=1.248;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=-0.018;SOR=0.575	GT:AD:DP:GQ:PL	0/1:42,13:69:99:119,0,979	1	0	5	0
chr2	178536584	178536584	-	A	ncRNA_intronic	TTN-AS1	.	.	.	.	2	1460	57	3	0	63	0.0211197	.	.	.	56790	TTN-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|not_specified|not_provided	.|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.00359425	0.0057	0.0013	0.0052	0	0.0032	0.0066	0.0027	0.0118	0.0001153	3	26028	rs397517782	0.0049	0.0048	0.0047	0.0052	0.0245	0.0048	0.0048	0.0210	0.0197	0.0007	0.0038	0.0164	5.303e-05	0.0027	0.0245	0.0045	0.0056	0.0129	0.0046	0.0046	0.0043	0.0049	0.0093	0.0043	0.0042	0.0072	0.0064	0.0010	0	0.0054	0.0150	0	0.0025	0.0170	0.0064	0.0038	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	240.79	26	chr2	178536584	.	C	CA	240.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.717;DP=191;ExcessHet=0;FS=3.358;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.103;SOR=0.148	GT:AD:DP:GQ:PL	0/1:14,12:26:99:251,0,343	5	0	1	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	139.19	4	chr2	178698916	.	TA	T	139.19	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.524;DP=93;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.524;SOR=0.473	GT:AD:DP:GQ:PL	0/1:2,2:4:38:40,0,38	3	0	3	0
chr2	181678271	181678271	G	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C590A:p.P197H	Maturity-onset diabetes of the young 6	0	1430	90	2	0	94	0.0318213	.	.	.	135209	not_specified|Maturity-onset_diabetes_of_the_young_type_6|Monogenic_diabetes|Hypoinsulinemia|not_provided	MedGen:CN169374|MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0040216,MedGen:C2748055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.211	.	0.0193	0.00958466	0.0190	0.0035	0.0229	0.0003	0.0011	0.0243	0.0209	0.0210	0.0189325	2927	154602	rs8192556	0.0224	0.0224	0.0222	0.0227	0.0394	0.0222	0.0222	0.0352	0.0335	0.0028	0.0182	0.0467	0.0002	0.0034	0.0394	0.0243	0.0235	0.0215	0.0160	0.0160	0.0172	0.0147	0.0250	0.0154	0.0152	0.0240	0.0236	0.0039	0.0011	0.0128	0.0533	0.0002	0.0031	0.0374	0.0250	0.0227	0.0193	0.034	0.44029	D	0.329	0.18617	T	0.467	0.36479	P	0.246	0.38861	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.16	0.65378	T	-3.57	0.68999	D	0.178	0.19190	-0.7009	0.60395	T	0.127	0.43277	T	10	0.005200088	0.00113	T	.	.	.	0.211	0.50185	.	.	.	.	0.6523947154151004	0.65175	1.42890423072	0.85769	0.706838607788	0.68135	T	0.432405	0.78019	T	-0.36366	0.03927	T	-0.271464	0.47672	T	0.0225593479104315	0.00972	T	0.911409	0.68582	D	0.43709826	0.63214	0.53251684	0.72988	0.43709826	0.63215	0.53251684	0.72988	-6.775	0.52373	T	0.4196720632099966	0.50863	0.869	0.80809	P	.	.	3.520050	0.49340	22.8	0.97725238709885853	0.35585	0.20757	0.21158	N	AEFDBHCI	0.921241	0.89443	D	0.480884192017316	0.65974	4.890575	0.588032692958553	0.74081	6.076715	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	6.02	6.02	0.97559	5.756000	0.68414	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.111	0.93299	854	0.34840	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029738	0.030303	0.039402	0.029240	0.050000	0.051724	0.024540	0.018939	0.08333	2073.83	157	chr2	181678271	.	G	T	2073.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.459;DP=339;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.51;SOR=0.703	GT:AD:DP:GQ:PL	0/1:85,72:157:99:2084,0,2330	5	0	1	0
chr2	240025394	240025394	C	A	UTR5	NDUFA10	NM_001322019:c.-93G>T	.	.	Leigh syndrome, Autosomal recessive, Mitochondrial	14	1493	14	1	0	16	0.00532978	.	.	.	288525	not_provided|Leigh_syndrome|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0052636	137	26028	rs577432343	0.0079	0.0070	0.0079	0.0078	0.0088	0.0077	0.0077	0.0086	0.0085	0.0013	0.0041	0.0009	0	0.0045	0.0028	0.0088	0.0067	0.0069	0.0050	0.0050	0.0055	0.0046	0.0085	0.0047	0.0046	0.0079	0.0077	0.0016	0	0.0033	0	0.0002	0.0036	0.0034	0.0085	0.0038	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	284.71	14	chr2	240025394	.	C	A	284.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.832;DP=65;ExcessHet=0;FS=2.963;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.34;ReadPosRankSum=-0.623;SOR=0.148	GT:AD:DP:GQ:PL	0/1:3,11:14:54:294,0,54	4	0	1	1
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	457.06	67	chr3	10064724	.	C	T	457.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.14;DP=267;ExcessHet=0.4139;FS=0.878;MLEAC=2;MLEAF=0.167;MQ=56.18;MQRankSum=-6.79;QD=3.97;ReadPosRankSum=-0.846;SOR=0.848	GT:AD:DP:GQ:PL	0/1:52,15:67:99:318,0,1486	4	0	2	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1551.9	15	chr3	27721936	.	G	GCGGCGC	1551.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.241;DP=100;ExcessHet=0.1336;FS=1.246;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=28.74;ReadPosRankSum=1.93;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,15:15:45:610,45,0	3	1	2	0
chr3	53808712	53808712	C	T	exonic	CACNA1D	.	nonsynonymous SNV	CACNA1D:NM_001128839:exon44:c.C5741T:p.P1914L,CACNA1D:NM_001128840:exon46:c.C5813T:p.P1938L,CACNA1D:NM_000720:exon47:c.C5873T:p.P1958L	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	496308	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0137582668619	.	.	1.654e-05	0	0	0.0001	0	1.506e-05	0	0	1.29e-05	2	154602	rs770886605	2.745e-05	3.01e-05	3.279e-05	2.207e-05	0.0002	2.069e-05	1.822e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	5.038e-05	0	0.0002	2.338e-05	1.657e-05	0	6.571e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	0.144	0.36765	T	0.0	0.15914	B	0.001	0.16012	B	0.105917	0.19637	N	0.466719	0.99841	0.47904	D	1.495	0.37439	L	0.27	0.59176	T	-0.76	0.24244	N	0.234	0.26354	-0.9364	0.43180	T	0.171	0.51213	T	10	0.07130602	0.10493	T	0.013758	0.33405	T	0.146	0.38789	0.139	0.04277	0.276254252017	0.27237	0.36520881171038094	0.36434	0.377305161825	0.39170	0.337217837572	0.16021	T	0.110448	0.42514	T	-0.438422	0.01321	T	-0.598239	0.12959	T	0.0212540858562242	0.00827	T	0.777122	0.41012	T	0.026773239	0.01778	0.04181662	0.04840	0.024458313	0.01279	0.041973922	0.04894	-4.551	0.31856	T	.	.	0.098	0.16929	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.402171	0.18166	13.58	0.15310641317232221	0.00370	0.54667	0.29672	D	AEFDBCI	0.366891	0.45455	N	-0.64235102768726	0.17683	0.9120271	-0.63139198742616	0.18688	0.9994624	0.999999814185904	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.74	3.93	0.44666	2.628000	0.46143	1.101000	0.24069	-0.173000	0.11020	0.369000	0.25916	0.001000	0.17328	0.019000	0.11356	0.0:0.8598:0.0:0.1402	12.248	0.53898	542	0.72843	Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	812.83	62	chr3	53808712	.	C	T	812.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.258;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.168;SOR=0.627	GT:AD:DP:GQ:PL	0/1:28,34:62:99:823,0,698	5	0	1	0
chr3	149172318	149172318	-	CA	UTR3	HPS3	NM_001308258:c.*96_*97insCA;NM_032383:c.*96_*97insCA	.	.	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	292950	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs374839757	0.0458	0.0523	0.0464	0.0454	0.0713	0.0453	0.0451	0.0671	0.0655	0.0713	0.0292	0.0478	0.0636	0.0459	0.0364	0.0451	0.0499	0.0438	0.0568	0.0577	0.0571	0.0565	0.0857	0.0558	0.0553	0.0833	0.0823	0.0857	0.0906	0.0345	0.0692	0.0464	0.0408	0.0556	0.0475	0.0489	0.0464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	349.27	7	chr3	149172318	.	T	TCA	349.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.431;DP=71;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.652;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,3:7:62:62,0,84	5	0	1	0
chr3	150972997	150972997	C	T	ncRNA_exonic	CLRN1-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	293419	Usher_syndrome_type_3|not_provided	MONDO:MONDO:0016485,MedGen:C1568248,Orphanet:231183|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0252	0	0	0	.	0.0362	0	0.0147	0.0013713	212	154602	rs55842922	0.0071	0.0079	0.0075	0.0067	0.0092	0.0068	0.0068	0.0089	0.0087	0.0018	0.0075	0.0009	0	0.0135	0	0.0092	0.0064	0.0011	0.0061	0.0061	0.0063	0.0059	0.0092	0.0058	0.0056	0.0086	0.0083	0.0017	0	0.0057	0.0020	0	0.0118	0	0.0092	0.0047	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	67.86	2	chr3	150972997	.	C	T	67.86	.	AC=2;AF=0.2;AN=10;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;QD=33.93;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0	4	1	0	1
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1498.22	26	chr3	160258644	.	G	GA	1498.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.774;DP=215;ExcessHet=2.3007;FS=2.566;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.385;SOR=0.465	GT:AD:DP:GQ:PL	1/1:3,23:26:11:583,11,0	1	1	4	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.75	31471.7	216	chr4	6300980	.	C	T	31471.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-3.122;DP=1450;ExcessHet=1.383;FS=0.585;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=-0.927;SOR=0.73	GT:AD:DP:GQ:PL	1/1:0,216:216:99:7367,648,0	0	3	3	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.75	20325.7	147	chr4	6301295	.	C	T	20325.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.02;DP=964;ExcessHet=1.383;FS=1.193;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=21.42;ReadPosRankSum=-1.333;SOR=0.808	GT:AD:DP:GQ:PL	1/1:0,147:147:99:5069,440,0	0	3	3	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8564.51	106	chr4	9783510	.	T	C	8564.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.62;DP=423;ExcessHet=0.095;FS=11.012;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=1.21;QD=24.82;ReadPosRankSum=-0.878;SOR=1.273	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3352,318,0	2	2	2	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	23731.2	162	chr4	38797027	.	C	A	23731.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-2.965;DP=912;ExcessHet=0.4139;FS=0.699;MLEAC=10;MLEAF=0.833;MQ=53.81;MQRankSum=-7.152;QD=26.78;ReadPosRankSum=1.48;SOR=0.638	GT:AD:DP:GQ:PL	0/1:70,92:162:99:2687,0,2040	0	4	2	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.1667	2449.03	75	chr4	55965812	.	AAAG	A	2449.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.903;DP=330;ExcessHet=0.4139;FS=4.036;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.514;SOR=0.44	GT:AD:DP:GQ:PL	0/1:45,30:75:99:1117,0,1799	4	0	2	0
chr4	72283389	72283389	C	T	exonic	ADAMTS3	.	nonsynonymous SNV	ADAMTS3:NM_014243:exon22:c.G3365A:p.S1122N	.	427	1079	16	0	0	16	0.00735971	.	.	.	2822568	ADAMTS3-related_disorder|not_provided|Inborn_genetic_diseases	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.000998403	0.0018	9.612e-05	0.0002	0	0	0.0006	0.0022	0.0108	0.001533	237	154602	rs148581726	0.0009	0.0009	0.0006	0.0013	0.0104	0.0009	0.0009	0.0098	0.0096	0	0.0002	0.0028	2.521e-05	0	0.0026	0.0002	0.0011	0.0104	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.221e-05	0	0.0001	0.0026	0	0	0	0.0005	0	0.0079	0.23	0.18308	T	0.45	0.12957	T	0.0	0.02946	B	0.0	0.01387	B	0.192986	0.16797	N	0.590741	1	0.08975	N	0.97	0.24054	L	-0.0	0.62608	T	-0.63	0.18459	N	0.046	0.05287	-1.0360	0.18544	T	0.115	0.40740	T	10	0.0050585866	0.00109	T	.	.	.	0.078	0.22779	.	.	0.582605312856	0.57933	0.2451059189476021	0.24424	0.112779734794	0.12728	0.290725171566	0.09028	T	0.012144	0.10726	T	-0.592878	0.00161	T	-0.615009	0.11582	T	0.00960253364164191	0.00125	T	0.468553	0.13811	T	0.040739372	0.05873	0.06284968	0.12361	0.035956327	0.04331	0.053104486	0.08879	-4.809	0.34696	T	.	.	0.078	0.06990	B	.;.	.;.	1.045257	0.14260	10.84	0.77345408659807879	0.11837	0.44012	0.27225	N	AEFBCI	0.134556	0.25461	N	-0.704882386983638	0.15884	0.8044843	-0.609565696859509	0.19247	1.031816	0.00845568395014803	0.11679	0.656854	0.48797	0	0.573888	0.26702	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.56	3.52	0.39415	0.854000	0.27445	0.638000	0.20293	0.549000	0.26987	0.710000	0.28722	0.001000	0.17328	0.208000	0.22126	0.0:0.7154:0.1294:0.1551	9.844	0.40184	640	0.64132	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.011364	0.08333	3314.83	211	chr4	72283389	.	C	T	3314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.72;DP=389;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.24;SOR=0.776	GT:AD:DP:GQ:PL	0/1:90,121:211:99:3325,0,2186	5	0	1	0
chr4	87616370	87616370	-	AGCAGTGACAGCAGCGAT	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.3708_3709insAGCAGTGACAGCAGCGAT:p.S1247_N1248insDSSDSS	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	202	1175	38	6	101	151	0.0208333	.	.	.	982534	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.0298	0.0051	0	0	0.0050	0.0055	0.0036	0.0015368	40	26028	rs780050498	0.0026	0.0057	0.0027	0.0025	0.0158	0.0025	0.0025	0.0146	0.0141	0.0158	0.0016	0.0036	0.0004	0.0045	0.0110	0.0023	0.0029	0.0014	0.0126	0.0159	0.0124	0.0127	0.0308	0.0121	0.0119	0.0293	0.0286	0.0308	0.0012	0.0071	0.0085	0.0018	0.0112	0.0078	0.0064	0.0107	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3766.74	71	chr4	87616370	.	C	CAGCAGTGACAGCAGCGAT	3766.74	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.115;DP=408;ExcessHet=1.383;FS=1.406;MLEAC=1;MLEAF=0.083;MQ=59.66;MQRankSum=-1.784;QD=22.56;ReadPosRankSum=0.172;SOR=0.842	GT:AD:DP:GQ:PL	0/1:40,31:71:99:1092,0,1558	5	0	1	0
chr4	88067937	88067937	A	C	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon13:c.A2398C:p.M800L	Polycystic kidney disease 2	1	1453	65	3	0	71	0.0238495	.	.	.	221479	Polycystic_kidney_disease|not_specified|Polycystic_kidney_disease_2|Joubert_syndrome_7|Autosomal_dominant_polycystic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:CN169374|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphanet:220497|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.399	.	0.0044	0.00579073	0.0048	0.0083	0.0025	0	0.0009	0.0040	0.0055	0.0117	0.0044695	691	154602	rs2234917	0.0032	0.0032	0.0028	0.0036	0.0187	0.0031	0.0031	0.0159	0.0148	0.0077	0.0043	0.0205	0	0.0003	0.0187	0.0020	0.0057	0.0114	0.0051	0.0051	0.0051	0.0052	0.0118	0.0048	0.0047	0.0094	0.0085	0.0072	0.0132	0.0065	0.0236	0	0.0003	0.0442	0.0029	0.0066	0.0118	0.665	0.04629	T	0.939	0.05128	T	0.0	0.02946	B	0.0	0.01387	B	0.000918	0.41128	N	0.295663	0.616511	0.30816	N	1.1	0.28011	L	-0.41	0.69413	T	-0.11	0.14588	N	0.254	0.30233	-0.9394	0.42711	T	0.113	0.40307	T	10	0.0069056153	0.00157	T	.	.	.	0.399	0.71321	0.495	0.58363	0.945837253058	0.94527	0.1314713499274115	0.13072	0.139255522669	0.15693	0.421813100576	0.28086	T	0.142519	0.47815	T	-0.268207	0.11957	T	-0.14765	0.59452	T	0.00219528382903001	0.00023	T	0.764224	0.39120	T	0.045509968	0.07461	0.054237243	0.09290	0.057194527	0.11352	0.057819337	0.10579	-2.145	0.03782	T	0.10625892327191047	0.08520	0.074	0.04932	B	.;.;.	.;.;.	1.446665	0.18669	13.86	0.71330291271392499	0.09593	0.89619	0.50200	D	AEFBI	0.237112	0.35945	N	-0.504278964987943	0.21940	1.168109	-0.333832732084893	0.27015	1.496058	0.901064122219379	0.26092	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.68	3.07	0.34476	1.488000	0.35160	1.902000	0.29588	0.754000	0.88378	0.976000	0.34826	0.976000	0.30059	0.938000	0.47775	0.6156:0.3844:0.0:0.0	12.700	0.56398	620	0.66037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.010101	0.012228	0.008772	0.000000	0.025862	0.024390	0.018939	0.08333	624.83	57	chr4	88067937	.	A	C	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=228;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.129;SOR=0.841	GT:AD:DP:GQ:PL	0/1:33,24:57:99:635,0,889	5	0	1	0
chr4	109968997	109968997	G	A	exonic	EGF	.	synonymous SNV	EGF:NM_001178131:exon10:c.G1476A:p.K492K,EGF:NM_001357021:exon10:c.G1476A:p.K492K,EGF:NM_001178130:exon11:c.G1602A:p.K534K,EGF:NM_001963:exon11:c.G1602A:p.K534K	Hypomagnesemia 4, renal	0	1518	4	0	0	4	0.00131579	.	.	.	698335	EGF-related_disorder|Renal_hypomagnesemia_4|not_provided	.|MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00159744	0.0017	0.0006	0.0020	0	0.0003	0.0026	0	0.0002	0.0017335	268	154602	rs140682556	0.0027	0.0027	0.0027	0.0026	0.0030	0.0026	0.0026	0.0029	0.0029	0.0005	0.0014	0.0064	0	0.0005	0.0009	0.0030	0.0037	0.0003	0.0019	0.0019	0.0021	0.0017	0.0031	0.0017	0.0017	0.0027	0.0026	0.0005	0	0.0016	0.0075	0	0.0005	0	0.0031	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1072.83	94	chr4	109968997	.	G	A	1072.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.045;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.095;SOR=0.612	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1083,0,1376	5	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1099.99	131	chr5	256319	.	ACT	A	1099.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.205;DP=517;ExcessHet=1.383;FS=1.165;MLEAC=3;MLEAF=0.25;MQ=57.6;MQRankSum=-11.08;QD=2.94;ReadPosRankSum=1.05;SOR=0.786	GT:AD:DP:GQ:PL	0/1:116,15:131:99:254,0,4795	3	0	3	0
chr5	13810143	13810143	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon45:c.C7525T:p.R2509C	Ciliary dyskinesia, primary, 3, with or without situs inversus	2	1519	1	0	0	1	0.000329056	.	.	YES	683675	Primary_ciliary_dyskinesia|DNAH5-related_disorder|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0255704970991	.	0.00159744	0.0034	0	0	0	0	0	0	0.0062	0.0004334	67	154602	rs531393117	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0002	1.855e-06	0.0002	0.0054	0.0002	0.0002	0.0001	0.0002	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	0.142	0.25457	T	.	.	.	0.007	0.14184	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.56	0.29602	T	-4.64	0.79316	D	0.373	0.41459	-1.0131	0.25943	T	0.103	0.37844	T	10	0.007804841	0.00177	T	0.02557	0.48532	D	0.168	0.42943	.	.	0.509996732195	0.50639	0.7408422689674172	0.74029	0.400050302579	0.41012	0.420968711376	0.27969	T	0.562956	0.85402	D	-0.448939	0.01146	T	-0.415312	0.31613	T	0.234890868183177	0.22183	T	0.549745	0.18930	T	0.23355651	0.46162	0.18689778	0.41890	0.23355651	0.46162	0.18689778	0.41889	-5.974	0.46062	T	0.2027718263426609	0.26980	0.124	0.26200	B	.	.	2.675502	0.34885	19.75	0.97217079671221762	0.32883	0.88983	0.49183	D	AEFDI	0.416081	0.48468	N	-0.148793103831869	0.35285	2.024849	-0.0899562798883155	0.35804	2.075836	0.165288716260561	0.17655	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	4.53	0.55009	1.889000	0.39352	1.757000	0.28522	0.670000	0.69193	0.972000	0.34453	0.228000	0.23763	0.647000	0.32611	0.1452:0.0:0.8548:0.0	11.473	0.49527	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002153	0.000000	0.001471	0.003030	0.000000	0.000000	0.000000	0.003968	0.08333	801.83	55	chr5	13810143	.	G	A	801.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=226;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-2.023;SOR=0.498	GT:AD:DP:GQ:PL	0/1:23,32:55:99:812,0,559	5	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1840.53	19	chr5	13886135	.	CAAA	C	1840.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.796;DP=175;ExcessHet=1.383;FS=2.907;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=0.996;SOR=0.314	GT:AD:DP:GQ:PL	0/1:1,13:19:78:622,94,78	3	0	3	0
chr5	13922143	13922143	G	A	exonic	DNAH5	.	synonymous SNV	DNAH5:NM_001369:exon5:c.C624T:p.N208N	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1504	14	1	3	19	0.00529101	.	.	.	173569	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0025	0.0006	0.0070	0	0.0008	0.0031	0.0055	0.0002	0.0025614	396	154602	rs139640247	0.0023	0.0023	0.0023	0.0023	0.0070	0.0022	0.0022	0.0064	0.0061	0.0003	0.0070	0.0023	0	0.0009	0.0050	0.0024	0.0030	0.0004	0.0023	0.0023	0.0021	0.0024	0.0067	0.0021	0.0020	0.0056	0.0052	0.0005	0.0264	0.0067	0.0026	0	0.0007	0.0102	0.0025	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.005051	0.004076	0.000000	0.050000	0.000000	0.009146	0.003788	0.08333	983.83	94	chr5	13922143	.	G	A	983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=271;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.065;SOR=1.038	GT:AD:DP:GQ:PL	0/1:54,40:94:99:994,0,1259	5	0	1	0
chr5	35072610	35072610	T	G	exonic	PRLR	.	nonsynonymous SNV	PRLR:NM_001204314:exon3:c.A205C:p.I69L,PRLR:NM_001204315:exon5:c.A508C:p.I170L,PRLR:NM_001204316:exon5:c.A508C:p.I170L,PRLR:NM_001204317:exon5:c.A508C:p.I170L,PRLR:NM_001204318:exon5:c.A508C:p.I170L,PRLR:NM_000949:exon6:c.A508C:p.I170L	Multiple fibroadenomas of the breast, Autosomal dominant	416	1062	42	2	0	46	0.0211982	.	.	YES	94550	PRLR-related_disorder|Multiple_fibroadenoma_of_the_breast	.|MONDO:MONDO:0014249,MedGen:C3809918,OMIM:615554,Orphanet:50920	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.0184	0.0125799	0.0190	0.0072	0.0120	0	0.0251	0.0271	0.0220	0.0058	0.0192624	2978	154602	rs72478580	0.0244	0.0244	0.0248	0.0239	0.0278	0.0241	0.0241	0.0275	0.0274	0.0085	0.0153	0.0203	0	0.0240	0.0258	0.0278	0.0222	0.0054	0.0184	0.0185	0.0190	0.0178	0.0257	0.0178	0.0176	0.0247	0.0243	0.0080	0	0.0235	0.0153	0.0004	0.0214	0.0306	0.0257	0.0194	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.003	0.19346	B	0.037209	0.24429	N	0.468375	0.637774	0.32848	D	0.355	0.11969	N	1.07	0.39586	T	-0.01	0.09627	N	0.158	0.17140	-1.0196	0.23845	T	0.008	0.02720	T	10	0.005667001	0.00126	T	.	.	.	0.044	0.11924	.	.	.	.	0.5736534138545916	0.57294	.	.	0.377462595701	0.21896	T	0.166969	0.51342	T	-0.616462	0.00116	T	-0.634597	0.10068	T	0.00174922258643195	0.00018	T	0.70183	0.31167	T	0.1237871	0.29058	0.053469297	0.09011	0.1237871	0.29058	0.039832175	0.04167	-3.157	0.35847	T	0.15361845584649098	0.18288	0.097	0.36850	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.708496	0.10771	7.459	0.58071770559781388	0.05910	0.62569	0.31821	D	AEFGI	0.160074	0.28596	N	-0.981828443610727	0.08992	0.423768	-0.804381192307477	0.14390	0.7516052	0.0153440461698801	0.12703	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	-1.03	0.09586	0.156000	0.16200	0.535000	0.19282	-0.120000	0.14102	0.993000	0.37899	0.999000	0.35428	0.692000	0.33898	0.2079:0.3206:0.208:0.2636	0.872	0.01139	682	0.59757	.;.;.;.;.;.;.;Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	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	0.022659	0.020202	0.031250	0.011696	0.050000	0.034483	0.033537	0.003788	0.1667	2298.06	109	chr5	35072610	.	T	G	2298.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.74;DP=325;ExcessHet=0.4139;FS=1.829;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.39;SOR=0.843	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1422,0,1536	4	0	2	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.08333	774.83	65	chr5	42711274	.	G	A	774.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.053;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.466;SOR=0.76	GT:AD:DP:GQ:PL	0/1:33,32:65:99:785,0,789	5	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.8333	11891.2	91	chr5	138556481	.	G	A	11891.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-1.906;DP=497;ExcessHet=0.4139;FS=3.579;MLEAC=10;MLEAF=0.833;MQ=59.99;MQRankSum=0;QD=24.27;ReadPosRankSum=1.98;SOR=0.692	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2768,273,0	0	4	2	0
chr5	149944307	149944307	C	A	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G367T:p.D123Y	Retinitis pigmentosa 43	0	1502	20	0	0	20	0.00661376	.	.	.	238028	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_43	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.428	0.0384823695614	.	0.000399361	0.0003	9.61e-05	0.0010	0	0	0.0003	0	0.0004	0.000304	47	154602	rs147010346	0.0003	0.0003	0.0003	0.0003	0.0092	0.0003	0.0003	0.0072	0.0065	0.0003	0.0011	3.826e-05	0	0	0.0092	0.0002	0.0008	0.0005	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	0.0003	0	0.0021	0	0	0	0.0171	0.0004	0.0005	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.977	0.58535	D	0.905	0.64260	P	0.005353	0.32875	N	0.341323	0.99998	0.54805	D	2.755	0.80505	M	-0.53	0.70833	T	-5.47	0.85617	D	0.302	0.36464	0.090	0.83996	D	0.531	0.82617	D	10	0.07871464	0.12577	T	0.038482	0.58251	D	0.428	0.73517	.	.	0.873578027535	0.87234	0.43824783086239205	0.43741	0.443632335628	0.44285	0.373303502798	0.21304	T	0.455042	0.91789	T	-0.240516	0.15281	T	-0.18164	0.56371	T	0.152171716094017	0.17275	T	0.960104	0.86967	D	0.634843	0.74556	0.68225837	0.81324	0.634843	0.74558	0.68225837	0.81325	-13.024	0.89463	D	0.3781966217158987	0.47293	0.206	0.56831	B	.;.;.	.;.;.	4.741668	0.76480	26.5	0.99443457286554204	0.64870	0.99626	0.98117	D	AEFBI	0.851479	0.76835	D	0.730837082461304	0.81654	7.573161	0.692550730819629	0.81814	7.615195	0.999999999999874	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	6.102000	0.71139	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:1.0:0.0:0.0	17.026	0.86320	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1878.83	120	chr5	149944307	.	C	A	1878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.667;DP=345;ExcessHet=0;FS=0.708;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.39;SOR=0.818	GT:AD:DP:GQ:PL	0/1:47,73:120:99:1889,0,1153	5	0	1	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L	Factor XIIIA deficiency, Autosomal recessive	4	868	532	118	0	768	0.306709	.	.	.	252448	not_provided|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.3333	8770.94	147	chr6	6174633	.	G	A	8770.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.04;DP=539;ExcessHet=0.1336;FS=1.282;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=20.83;ReadPosRankSum=1.99;SOR=0.795	GT:AD:DP:GQ:PL	0/1:69,78:147:99:2080,0,2552	3	1	2	0
chr6	7541915	7541915	-	A	UTR5	DSP	NM_001008844:c.-1_0insA;NM_004415:c.-1_0insA;NM_001319034:c.-1_0insA	.	.	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	28	1328	145	21	0	187	0.0657756	.	.	.	44679	not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1665	0.199681	0.1994	0.2722	0.2824	0.3023	0.2527	0.1686	0.1623	0.1516	0.0316198	823	26028	rs17133512	0.1455	0.1456	0.1471	0.1439	0.3022	0.1450	0.1448	0.2976	0.2958	0.2224	0.2379	0.1041	0.3022	0.1713	0.0852	0.1355	0.1482	0.1249	0.1726	0.1729	0.1700	0.1752	0.2692	0.1708	0.1701	0.2574	0.2526	0.2146	0.1557	0.2166	0.1092	0.2692	0.1649	0.0925	0.1384	0.1570	0.1274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	551.79	37	chr6	7541915	.	C	CA	551.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.15;DP=215;ExcessHet=0;FS=1.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.046;SOR=1.051	GT:AD:DP:GQ:PL	0/1:19,18:37:99:562,0,598	5	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8333	58405.1	351	chr6	7585734	.	G	C	58405.1	.	AC=10;AF=0.833;AN=12;DP=1793;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;QD=34.28;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,351:351:99:11892,1054,0	1	5	0	0
chr6	31758201	31758201	C	G	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon13:c.C1051G:p.R351G,MSH5:NM_025259:exon13:c.C1102G:p.R368G,MSH5:NM_172165:exon13:c.C1051G:p.R351G,MSH5:NM_172166:exon13:c.C1051G:p.R351G	.	421	1026	66	9	0	84	0.0393258	.	.	.	1245959	not_provided|Spermatogenic_failure_74|Genetic_non-acquired_premature_ovarian_failure|Premature_ovarian_failure_13|MSH5-related_disorder	MedGen:C3661900|MONDO:MONDO:0030972,MedGen:C5677010,OMIM:619937|MedGen:C5925042,Orphanet:485382|MONDO:MONDO:0044317,MedGen:C4479510,OMIM:617442|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.606	.	0.0125	0.0147764	0.0154	0.0028	0.0051	0.0025	0.0039	0.0154	0.0126	0.0413	0.0143918	2225	154602	rs28399976	0.0157	0.0157	0.0146	0.0168	0.0416	0.0155	0.0154	0.0405	0.0400	0.0024	0.0067	0.0104	0.0021	0.0039	0.0154	0.0157	0.0143	0.0416	0.0116	0.0116	0.0115	0.0117	0.0429	0.0111	0.0109	0.0381	0.0362	0.0029	0.0132	0.0081	0.0109	0.0035	0.0033	0.0102	0.0175	0.0080	0.0429	0.008	0.61437	D	0.004	0.92824	D	0.999	0.77913	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	.	.	.	2.535	0.73915	M	-2.69	0.90451	D	-2.82	0.60029	D	0.771	0.79792	0.633	0.92330	D	0.761	0.91865	D	9	0.008061856	0.00183	T	.	.	.	0.606	0.84506	.	.	.	.	0.6213818638175241	0.62071	1.45155817305	0.86166	.	.	.	0.502853	0.82258	D	-0.119988	0.33127	T	0.0848567	0.75903	D	0.0273929985219459	0.01600	T	.	.	.	0.8579807	0.87932	0.6532658	0.79706	0.64384913	0.75037	0.2889649	0.54914	-7.364	0.56650	T	.	.	0.287	0.56409	B	.;.;.;.;.;.	.;.;.;.;.;.	4.114134	0.61441	24.3	0.99837990765602724	0.91886	0.97540	0.75417	D	AEFBI	0.815141	0.73719	D	0.29800211097158	0.56047	3.768979	0.325979301806223	0.57072	3.871709	0.999994607003859	0.74766	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.51	4.64	0.57399	5.528000	0.66843	.	.	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9193:0.0:0.0807	12.665	0.56199	895	0.25842	DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;.;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core	C6orf48|Y_RNA|ATP6V1G2|XXbac-BPG181B23.7|ATP6V1G2|C6orf48|ATP6V1G2|C6orf48|MICB|CSNK2B|C6orf48|C6orf48|ATP6V1G2|XXbac-BPG181B23.7	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Cells_Cultured_fibroblasts|Colon_Sigmoid|Lung|Nerve_Tibial|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	NCR3|NCR3	Cells_EBV-transformed_lymphocytes|Whole_Blood	.	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	0.017429	0.000000	0.010870	0.015957	0.100000	0.026316	0.018293	0.041667	0.08333	1262.83	97	chr6	31758201	.	C	G	1262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=271;ExcessHet=0;FS=1.634;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.311;SOR=0.9	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1273,0,1032	5	0	1	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5833	9732.88	48	chr6	32039081	.	C	A	9732.88	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.911;DP=408;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=29.76;ReadPosRankSum=1.75;SOR=0.705	GT:AD:DP:GQ:PL	0/1:19,29:48:99:732,0,458	2	3	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	815.38	5	chr6	42963889	.	GTTTA	G	815.38	.	AC=6;AF=0.6;AN=10;DP=39;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;QD=32.19;SOR=4.514	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0	2	3	0	1
chr6	50844303	50844304	AC	-	UTR3	TFAP2B	NM_003221:c.*911_*912delAC	.	.	Char syndrome, Autosomal dominant;Patent ductus arteriosus 2, Autosomal dominant	1436	77	2	7	0	16	0.0941176	.	.	.	308011	Char_syndrome|not_provided	MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.936701	.	.	.	.	.	.	.	.	0.000461	12	26028	rs1491025948	0.3333	0.0152	0.3824	0.3108	.	0.2475	0.2178	.	.	.	.	.	.	0.3333	.	0	0.5000	.	0.3073	0.3071	0.3064	0.3084	0.4915	0.3050	0.3040	0.4754	0.4688	0.1656	0.4845	0.3065	0.3927	0.4915	0.3189	0.3345	0.3681	0.2984	0.3394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	68.64	2	chr6	50844302	.	AAC	A	68.64	.	AC=2;AF=0.5;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=34.32;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0	1	1	0	4
chr6	52025252	52025252	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4558A:p.V1520M,PKHD1:NM_170724:exon32:c.G4558A:p.V1520M	Polycystic kidney and hepatic disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1567458	not_provided|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|PKHD1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.299	0.0644818708987	0.0002	.	6.606e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs201858937	4.857e-05	4.857e-05	4.22e-05	5.5e-05	3.058e-05	3.926e-05	3.605e-05	2.201e-05	1.942e-05	0	0	0.0011	0	0	0	3.058e-05	0.0001	0	3.285e-05	3.283e-05	3.853e-05	2.69e-05	1.47e-05	1.261e-05	7.98e-06	.	.	0	0	0	0.0009	0	0	0	1.47e-05	0.0005	0	0.044	0.42783	D	0.0	0.92824	D	0.918	0.50838	P	0.554	0.49340	P	0.030683	0.25272	N	0.387947	0.95051	0.26502	N	2.3	0.65703	M	-1.27	0.79277	T	-2.3	0.51157	N	0.249	0.28146	-0.7727	0.56709	T	0.263	0.63458	T	10	0.10766226	0.20008	T	0.064482	0.69290	D	0.299	0.61955	.	.	0.592856498712	0.58963	0.50468189006787	0.50390	0.265442073576	0.29100	0.36001688242	0.19389	T	0.501298	0.82155	D	-0.178905	0.23900	T	-0.338395	0.40526	T	0.165895982389791	0.18296	T	0.728227	0.34274	T	0.082700655	0.19064	0.13507089	0.32350	0.082700655	0.19063	0.13507089	0.32349	-4.401	0.29571	T	0.4721461798847437	0.55239	0.162	0.35746	B	.;.	.;.	2.787076	0.36630	20.3	0.99551247897618389	0.71148	0.76313	0.37418	D	AEFBI	0.200567	0.32729	N	-0.0449799019014874	0.39828	2.355045	-0.0989434719033763	0.35434	2.049996	0.0249232909533647	0.13613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.66	2.86	0.32427	1.454000	0.34789	1.651000	0.27846	0.599000	0.40250	0.840000	0.30285	0.999000	0.35428	0.854000	0.40426	0.1474:0.7429:0.0:0.1097	8.196	0.30558	775	0.48401	IPT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	3162.04	96	chr6	52025252	.	C	T	3162.04	.	AC=2;AF=0.167;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.94;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3182,287,0	5	1	0	0
chr6	105124621	105124621	T	C	exonic	BVES	.	nonsynonymous SNV	BVES:NM_001199563:exon5:c.A574G:p.N192D,BVES:NM_007073:exon5:c.A574G:p.N192D,BVES:NM_147147:exon5:c.A574G:p.N192D	.	433	1088	1	0	0	1	0.000459348	.	.	.	735311	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2X|not_provided	MONDO:MONDO:0014782,MedGen:C5568138,OMIM:616812,Orphanet:476084|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.088	0.0144632673405	0.0004	.	0.0007	9.656e-05	0.0047	0	0	0.0003	0.0022	0.0002	0.0005563	86	154602	rs145098126	0.0002	0.0002	0.0003	0.0002	0.0022	0.0002	0.0002	0.0019	0.0017	0	0.0022	3.828e-05	0	9.366e-05	0.0021	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	9.746e-05	8.26e-05	0.0003	0.0002	2.413e-05	0	0.0005	0	0	0	0	0.0002	0	0	0.228	0.18434	T	0.28	0.21678	T	0.238	0.30817	B	0.079	0.28749	B	0.000000	0.84330	D	0.084158	0.998586	0.45122	D	1.67	0.42885	L	1.55	0.29866	T	-0.99	0.26200	N	0.682	0.76203	-1.0698	0.09458	T	0.026	0.11087	T	10	0.019834667	0.00448	T	0.014463	0.34591	T	0.088	0.25558	.	.	0.249502417897	0.24576	0.5969015640672728	0.59621	0.772935468842	0.64867	0.848067164421	0.89322	D	0.077263	0.35612	T	-0.429735	0.01488	T	-0.396845	0.33751	T	0.0268169566673437	0.01518	T	0.888511	0.61827	D	0.24707338	0.47682	0.22634983	0.47609	0.24774644	0.47755	0.2104409	0.45429	-7.253	0.55861	T	0.3130306903783572	0.41097	0.413	0.60286	A	.;.;.	.;.;.	3.978163	0.58465	24.0	0.9943939254768015	0.64670	0.96606	0.69985	D	AEFBI	0.732660	0.67935	D	0.0918928181438657	0.46086	2.85443	0.285510563929457	0.54693	3.633485	0.998944924732894	0.38034	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.86	5.86	0.93936	6.214000	0.72143	7.744000	0.68046	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.072:0.0:0.928	10.563	0.44348	830	0.39242	.;.;.	.	.	.	.	.	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	0.001008	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1437.83	105	chr6	105124621	.	T	C	1437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.693;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1448,0,1254	5	0	1	0
chr6	107901524	107901524	A	-	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	301	1175	27	3	16	49	0.0138481	.	.	.	298622	Polycystic_liver_disease_1|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0643	.	0.1032	0.1328	0.0968	0.0728	0.0193	0.0957	0.0773	0.1565	0.0002689	7	26028	rs370485907	0.0510	0.1097	0.0512	0.0509	0.0988	0.0506	0.0505	0.0952	0.0937	0.0988	0.0633	0.0519	0.0426	0.0491	0.0361	0.0492	0.0585	0.0520	0.0158	0.0163	0.0159	0.0158	0.0488	0.0153	0.0150	0.0469	0.0462	0.0488	0	0.0102	0.0010	0.0002	0.0026	0.0038	0.0025	0.0105	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	45.81	9	chr6	107901523	.	TA	T	45.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.09;DP=75;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.09;ReadPosRankSum=1.56;SOR=0.593	GT:AD:DP:GQ:PL	0/1:6,3:9:56:56,0,134	5	0	1	0
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.08333	1139.83	96	chr6	131851228	.	A	C	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.277;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.722;SOR=0.614	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1150,0,1162	5	0	1	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.5833	12691.9	120	chr6	151615542	.	G	A	12691.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.896;DP=553;ExcessHet=0;FS=5.604;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=26.95;ReadPosRankSum=0.417;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3820,359,0	2	3	1	0
chr6	152353298	152353298	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon69:c.A11173G:p.T3725A,SYNE1:NM_182961:exon69:c.A11218G:p.T3740A	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	266351	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|Arthrogryposis_multiplex_congenita_3,_myogenic_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.00733501770578	0.0005	.	0.0005	9.612e-05	8.637e-05	0	0.0002	0.0008	0	0	0.000414	64	154602	rs144797744	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	2.987e-05	6.708e-05	3.826e-05	2.519e-05	0.0002	0.0003	0.0006	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0005	0.0005	4.826e-05	0	0.0001	0	0	0	0	0.0007	0.0005	0	0.03	0.46129	D	0.04	0.65728	D	0.006	0.13644	B	0.003	0.08700	B	0.101887	0.19818	N	0.495207	0.999956	0.19072	N	0	0.06538	N	0.63	0.53088	T	-0.67	0.21429	N	0.127	0.15187	-1.0401	0.17283	T	0.024	0.10239	T	10	0.023053676	0.00592	T	0.007335	0.19442	T	0.030	0.07022	.	.	0.186928172975	0.18263	0.026669246991297507	0.02616	0.129451748039	0.14595	0.248364806175	0.03598	T	0.148242	0.48671	T	-0.540048	0.00335	T	-0.626505	0.10681	T	0.0135413931613622	0.00249	T	0.561944	0.19755	T	0.047970165	0.08288	0.057069294	0.10310	0.047970165	0.08287	0.057069294	0.10310	-3.616	0.18088	T	.	.	0.070	0.03661	B	.;.;.	.;.;.	0.808281	0.11794	8.364	0.43686989497159773	0.03306	0.86521	0.45818	D	AEFBI	0.180100	0.30740	N	-1.01144306903457	0.08365	0.3919834	-0.900029693392584	0.12093	0.6200821	1.34136445292598E-4	0.05486	0.475973	0.10046	0	0.573888	0.26702	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.75	0.531	0.16303	1.797000	0.38438	1.182000	0.24703	-0.123000	0.13640	1.000000	0.71638	0.999000	0.35428	0.738000	0.35369	0.0:0.1347:0.2527:0.6126	6.205	0.19813	859	0.33891	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1829.83	146	chr6	152353298	.	T	C	1829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=321;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.677;SOR=0.593	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1840,0,1831	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	892.86	19	chr6	152391580	.	G	GAAAAAA	892.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.085;DP=147;ExcessHet=0;FS=1.992;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=-0.871;SOR=0.465	GT:AD:DP:GQ:PL	0/1:14,5:19:99:104,0,519	4	0	2	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.4167	4420.5	76	chr6	159692840	.	A	G	4420.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.47;DP=329;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.006;SOR=0.709	GT:AD:DP:GQ:PL	0/1:43,33:76:99:921,0,1292	2	1	3	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	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	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.3	2681.43	64	chr6	170561964	.	G	A	2681.43	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,22:64:99:1|0:170561949_GCAA_G:3489,1670,1471:170561949	2	0	3	1
chr7	4792979	4792979	C	A	UTR3	AP5Z1	NM_001364858:c.*1594C>A;NM_014855:c.*1594C>A	.	.	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	1108	400	9	5	0	19	0.023199	.	.	.	898212	Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_48	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0123802	.	.	.	.	.	.	.	.	0.0192485	501	26028	rs138654444	0.0373	0.0030	0.0341	0.0393	0.2500	0.0342	0.0330	0.0854	0.0515	0.0204	0.0179	0.0690	0	0.0259	0.2500	0.0423	0.0270	0.0689	0.0160	0.0160	0.0165	0.0154	0.0250	0.0155	0.0152	0.0226	0.0222	0.0043	0.0208	0.0179	0.0320	0.0002	0.0062	0.0544	0.0235	0.0232	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	127.93	5	chr7	4792979	.	C	A	127.93	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.01;DP=22;ExcessHet=0.9691;FS=0;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.65;SOR=0.883	GT:AD:DP:GQ:PL	0/1:3,2:5:34:34,0,77	1	0	2	3
chr7	4793582	4793582	A	G	UTR3	AP5Z1	NM_001364858:c.*2197A>G;NM_014855:c.*2197A>G	.	.	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	986	516	15	5	0	25	0.0236518	.	.	.	898222	Hereditary_spastic_paraplegia_48|Hereditary_spastic_paraplegia	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0123802	.	.	.	.	.	.	.	.	0.0192485	501	26028	rs187056670	0	0.0018	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0.0173	0.0170	0.0179	0.0168	0.0302	0.0168	0.0165	0.0258	0.0242	0.0049	0.0227	0.0187	0.0356	0.0002	0.0066	0.0584	0.0249	0.0254	0.0302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.97	2	chr7	4793582	.	A	G	36.97	.	AC=2;AF=0.2;AN=10;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.49;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	21537.0	99	chr7	21867834	.	G	GT	21537.0	.	AC=11;AF=0.917;AN=12;BaseQRankSum=-0.5;DP=546;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=36.19;ReadPosRankSum=1.69;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:21867834_G_GT:4318,298,0:21867834	0	5	1	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	624.12	21	chr7	30633896	.	TA	T	624.12	.	AC=3;AF=0.75;AN=4;BaseQRankSum=0.094;DP=125;ExcessHet=0;FS=2.657;MLEAC=5;MLEAF=1;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.299;SOR=0.24	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,20:21:38:.:.:492,38,0:.	0	1	1	4
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	514.03	34	chr7	56019598	.	AC	A	514.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.45;DP=147;ExcessHet=0.4139;FS=2.8;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.351;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,12:34:99:0|1:56019585_C_A:438,0,888:56019585	4	0	2	0
chr7	75986532	75986532	C	T	UTR3	POR	NM_001367562:c.*51C>T;NM_000941:c.*51C>T;NM_001382655:c.*51C>T;NM_001382657:c.*51C>T;NM_001382658:c.*51C>T;NM_001382659:c.*51C>T;NM_001382662:c.*51C>T	.	.	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	10	1484	27	1	0	29	0.00967634	.	.	.	898398	Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency|not_provided	MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0080	0.00499201	.	.	.	.	.	.	.	.	0.0015653	242	154602	rs41302345	0.0121	0.0119	0.0121	0.0120	0.0141	0.0119	0.0118	0.0139	0.0138	0.0020	0.0060	0.0075	0	0.0060	0.0049	0.0141	0.0096	0.0046	0.0077	0.0077	0.0082	0.0072	0.0133	0.0074	0.0072	0.0126	0.0123	0.0022	0	0.0045	0.0084	0	0.0037	0.0034	0.0133	0.0104	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	621.83	37	chr7	75986532	.	C	T	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.616;DP=212;ExcessHet=0;FS=1.594;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.213;SOR=1.101	GT:AD:DP:GQ:PL	0/1:18,19:37:99:632,0,535	5	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5153.38	32	chr7	92499847	.	CA	C	5153.38	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.66;DP=265;ExcessHet=0;FS=2.335;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=1.78;SOR=1.117	GT:AD:DP:GQ:PL	1/0:0,26:32:74:861,168,74	0	3	3	0
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	6	11	58	125	26	334	0.933333	.	.	.	191766	not_provided|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5153.38	32	chr7	92499847	.	CAA	C	5153.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.66;DP=265;ExcessHet=0;FS=2.335;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=1.78;SOR=1.117	GT:AD:DP:GQ:PL	0/1:0,6:32:74:861,653,639	5	0	1	0
chr7	92501648	92501648	G	A	exonic	PEX1	.	synonymous SNV	PEX1:NM_001282677:exon14:c.C2271T:p.F757F,PEX1:NM_000466:exon15:c.C2442T:p.F814F,PEX1:NM_001282678:exon15:c.C1818T:p.F606F	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	2	1487	29	4	0	37	0.0122883	.	.	YES	99013	Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|not_specified|not_provided	MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0024	0.0005	0.0015	0.0001	0.0014	0.0032	0.0022	0.0025	0.0024126	373	154602	rs145430946	0.0029	0.0029	0.0029	0.0029	0.0250	0.0028	0.0028	0.0217	0.0204	0.0012	0.0023	0.0038	0	0.0006	0.0250	0.0031	0.0037	0.0020	0.0023	0.0023	0.0023	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0008	0	0.0030	0.0012	0.0004	0.0009	0.0306	0.0034	0.0024	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.022155	0.010101	0.023098	0.049708	0.000000	0.043103	0.015244	0.003788	0.08333	758.83	67	chr7	92501648	.	G	A	758.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.232;DP=238;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-2.907;SOR=0.963	GT:AD:DP:GQ:PL	0/1:35,32:67:99:769,0,843	5	0	1	0
chr7	103654164	103654164	T	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon13:c.A1483G:p.I495V,RELN:NM_173054:exon13:c.A1483G:p.I495V	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	207451	Epilepsy,_familial_temporal_lobe,_1|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_specified|not_provided	MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00608343923033	0.0002	.	0.0001	9.625e-05	0	0	0	0.0002	0.0011	6.061e-05	8.41e-05	13	154602	rs150850005	7.194e-05	7.319e-05	5.182e-05	9.226e-05	0.0044	6.057e-05	5.604e-05	0.0030	0.0026	0.0002	0.0007	0	0	0	0.0044	2.702e-05	0.0002	2.319e-05	0.0003	0.0003	0.0002	0.0005	0.0028	0.0003	0.0002	0.0021	0.0019	0	0	0.0028	0	0	0	0.0068	8.829e-05	0	0	0.304	0.14497	T	0.653	0.06666	T	0.004	0.12183	B	0.007	0.12992	B	0.137452	0.18412	N	0.568373	1	0.08975	N	0.205	0.09354	N	1.95	0.22474	T	-0.11	0.08653	N	0.171	0.18649	-0.9836	0.34164	T	0.024	0.10284	T	10	0.051508456	0.05044	T	0.006083	0.15905	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.2419924119947583	0.24113	0.141360574457	0.15935	0.354771971703	0.18622	T	0.061614	0.31699	T	-0.531486	0.00376	T	-0.614207	0.11645	T	0.0109685441340354	0.00158	T	0.746525	0.36724	T	0.028660143	0.02237	0.0266236	0.00762	0.029019294	0.02329	0.028409708	0.01075	-2.839	0.08548	T	0.15988244192993212	0.19470	0.081	0.08368	B	.;.;.	.;.;.	0.731762	0.11013	7.668	0.60527729194744773	0.06485	0.52558	0.29160	D	AEFBI	0.251969	0.37174	N	-0.750554782871795	0.14618	0.7296873	-0.651231832265375	0.18185	0.9703737	0.00456817660619692	0.10618	0.648238	0.45900	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	0.581	0.16590	1.128000	0.30982	1.598000	0.27567	0.609000	0.47794	0.790000	0.29595	0.032000	0.21310	0.856000	0.40543	0.1116:0.063:0.3741:0.4513	4.728	0.12331	859	0.33891	.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.08333	868.83	58	chr7	103654164	.	T	C	868.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.283;DP=218;ExcessHet=0;FS=10.262;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.135;SOR=0.129	GT:AD:DP:GQ:PL	0/1:23,35:58:99:879,0,644	5	0	1	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	9290.48	40	chr7	103989356	.	T	TGCCGCC	9290.48	.	AC=10;AF=0.833;AN=12;BaseQRankSum=2.1;DP=386;ExcessHet=0;FS=7.742;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.24;ReadPosRankSum=-2.012;SOR=1.501	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1777,118,0	0	4	2	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8333	15597.2	111	chr7	127611134	.	T	G	15597.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.54;DP=597;ExcessHet=0.4139;FS=0.71;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=26.57;ReadPosRankSum=1.9;SOR=0.703	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3934,334,0	0	4	2	0
chr7	130441209	130441209	C	T	UTR5	CEP41	NM_001257159:c.-243G>A	.	.	Joubert syndrome 15, Autosomal recessive	240	1274	7	1	0	9	0.00351975	.	.	.	305059	not_provided|Joubert_syndrome	MedGen:C3661900|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0073	0	0.0143	0	.	0.0030	0.0116	0.0090	0.0012613	195	154602	rs542293061	0.0067	0.0071	0.0067	0.0067	0.0090	0.0065	0.0064	0.0087	0.0085	0.0011	0.0026	0.0005	6.299e-05	0.0060	0.0051	0.0090	0.0065	0.0054	0.0043	0.0043	0.0046	0.0041	0.0069	0.0040	0.0039	0.0064	0.0062	0.0010	0	0.0033	0.0003	0	0.0054	0.0035	0.0069	0.0064	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	258.47	13	chr7	130441209	.	C	T	258.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.466;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=1.86;SOR=0.25	GT:AD:DP:GQ:PL	0/1:4,9:13:99:268,0,126	5	0	1	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1057.55	82	chr7	131505863	.	C	T	1057.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.176;DP=397;ExcessHet=11.5949;FS=460.771;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.72;SOR=9.869	GT:AD:DP:GQ:PL	0/1:47,35:82:99:373,0,770	0	0	6	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	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1715.03	252	chr7	142749524	.	C	G	1715.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=6.15;DP=843;ExcessHet=1.383;FS=18.942;MLEAC=3;MLEAF=0.25;MQ=57.86;MQRankSum=-15.72;QD=2.36;ReadPosRankSum=-1.757;SOR=2.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,27:252:99:0|1:142749506_A_G:456,0,9366:142749506	3	0	3	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.3333	4636.96	129	chr7	142750561	.	C	T	4636.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.105;DP=556;ExcessHet=3.1439;FS=2.758;MLEAC=4;MLEAF=0.333;MQ=56.46;MQRankSum=-8.879;QD=9.66;ReadPosRankSum=0.27;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,49:129:99:.:.:1752,0,2214:.	2	0	4	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3333	2310.96	125	chr7	142750675	.	A	G	2310.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.872;DP=543;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-9.095;QD=4.89;ReadPosRankSum=-1.305;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,28:125:99:0|1:142750672_T_A:871,0,3983:142750672	2	0	4	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1991.96	121	chr7	142750680	.	C	T	1991.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.746;DP=527;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=58.04;MQRankSum=-9.203;QD=4.38;ReadPosRankSum=-1.361;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:99:0|1:142750672_T_A:761,0,3950:142750672	2	0	4	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1452	70	0	0	70	0.0235373	1.0000	0.848	.	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	506.0	81	chr7	142750715	.	G	A	506.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.4;DP=398;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=58.33;MQRankSum=-8.567;QD=2.29;ReadPosRankSum=-1.884;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,13:81:99:.:.:323,0,1839:.	3	0	3	0
chr7	142751871	142751871	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G298A:p.D100N	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1214	308	0	0	308	0.112573	.	.	.	1856639	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0428779939056	.	.	9.889e-05	9.625e-05	0	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs199507985	0.0051	0.1108	0.0042	0.0059	0.0058	0.0049	0.0049	0.0049	0.0048	0.0056	0.0014	0.0020	0.0003	0.0259	0.0058	0.0050	0.0037	0.0004	0.0108	0.0956	0.0113	0.0103	0.0183	0.0103	0.0101	0.0169	0.0163	0.0183	0.0092	0.0097	0.0055	0.0016	0.0118	0.0052	0.0086	0.0199	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033468	0.24894	N	0.524529	1	0.08975	N	-0.69	0.01958	N	-3.0	0.92158	D	1.9	0.00629	N	0.239	0.29429	-0.6747	0.61616	T	0.367	0.72727	T	10	0.023464203	0.00615	T	0.042878	0.60692	D	0.229	0.52916	0.66	0.79791	0.581723300495	0.57844	0.32847795118294976	0.32760	0.158480649337	0.17896	0.271346330643	0.06317	T	0.315631	0.68723	T	-0.016682	0.49325	T	-0.261739	0.48651	T	0.0383265241498447	0.03389	T	.	.	.	0.11146873	0.26341	0.07788485	0.17394	0.11146873	0.26341	0.07788485	0.17393	-3.152	0.11903	T	.	.	0.130	0.27968	B	.;.;.;.	.;.;.;.	0.306948	0.06821	3.348	0.23833427681071562	0.01026	0.02802	0.07524	N	AEFDBI	0.128302	0.24603	N	-1.45322892256066	0.02191	0.09649168	-1.40637236865901	0.03188	0.14819	0.00205546323774988	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	0.447	0.15819	1.399000	0.34175	.	.	-0.330000	0.05784	0.098000	0.22752	0.000000	0.08366	0.001000	0.02609	0.787:0.0:0.213:0.0	7.122	0.24626	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	0.009063	0.030303	0.002717	0.005848	0.050000	0.025862	0.003049	0.003788	0.1667	480.06	174	chr7	142751871	.	G	A	480.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.4;DP=579;ExcessHet=0.4139;FS=4.902;MLEAC=2;MLEAF=0.167;MQ=58.78;MQRankSum=-12.73;QD=1.14;ReadPosRankSum=-0.042;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,19:174:99:0|1:142751865_C_A:331,0,6449:142751865	4	0	2	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10688.0	216	chr7	142752476	.	G	C	10688.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.61;DP=956;ExcessHet=3.1439;FS=5.193;MLEAC=4;MLEAF=0.333;MQ=57.49;MQRankSum=-9.471;QD=12.47;ReadPosRankSum=1.09;SOR=0.736	GT:AD:DP:GQ:PL	0/1:123,93:216:99:3274,0,3385	2	0	4	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_provided|Hereditary_pancreatitis|not_specified	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	729.06	212	chr7	142752950	.	A	G	729.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=843;ExcessHet=0.4139;FS=5.993;MLEAC=2;MLEAF=0.167;MQ=58.73;MQRankSum=-10.67;QD=1.84;ReadPosRankSum=-3.893;SOR=1.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,23:212:99:0|1:142752947_A_G:397,0,7772:142752947	4	0	2	0
chr8	27803513	27803513	-	AATA	UTR3	ESCO2	NM_001017420:c.*75_*76insAATA	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	155	1138	181	47	1	276	0.107801	.	.	.	308805	not_provided|Roberts-SC_phocomelia_syndrome	MedGen:C3661900|MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0191717	499	26028	rs139887923	0.1086	0.1090	0.1063	0.1108	0.3253	0.1081	0.1079	0.3205	0.3184	0.2373	0.0853	0.1738	0.3253	0.0804	0.1595	0.0904	0.1371	0.1882	0.1556	0.1562	0.1557	0.1555	0.3660	0.1540	0.1533	0.3522	0.3466	0.2532	0.0208	0.1276	0.1760	0.3660	0.0851	0.1667	0.0980	0.1654	0.1933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	55.82	8	chr8	27803513	.	T	TAATA	55.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.242;DP=69;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.792;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	5	0	1	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	379.37	12	chr8	132480670	.	A	ACC	379.37	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.47;DP=50;ExcessHet=0.1336;FS=4.559;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.842;SOR=2.12	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,5:12:99:.:.:152,0,234:.	4	0	2	0
chr9	33166713	33166713	-	G	intronic	B4GALT1	.	.	.	Congenital disorder of glycosylation, type IId, Autosomal recessive	1	1432	80	9	0	98	0.0330858	.	.	.	488301	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0177	0.0299521	0.0256	0.0170	0.0585	0.0626	0.0213	0.0170	0.0198	0.0287	0.000925	143	154602	rs111399879	0.0206	0.0204	0.0203	0.0209	0.0622	0.0204	0.0203	0.0601	0.0592	0.0172	0.0487	0.0535	0.0622	0.0160	0.0500	0.0175	0.0244	0.0249	0.0233	0.0233	0.0230	0.0236	0.0596	0.0227	0.0224	0.0542	0.0520	0.0169	0.0308	0.0458	0.0496	0.0596	0.0169	0.0612	0.0186	0.0241	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	368.79	36	chr9	33166713	.	C	CG	368.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.787;DP=173;ExcessHet=0;FS=3.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.159;SOR=0.293	GT:AD:DP:GQ:PL	0/1:20,16:36:99:379,0,503	5	0	1	0
chr9	95317672	95317672	G	A	UTR5	FANCC	NM_000136:c.-68381C>T;NM_001243744:c.-68381C>T	.	.	Fanconi anemia, complementation group C, Autosomal recessive	1192	327	3	0	0	3	0.00456621	.	.	.	308952	Fanconi_anemia|not_provided|Fanconi_anemia_complementation_group_C|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs182633348	0	0.0001	0	0	.	0	0	.	.	.	.	0	.	.	.	0	.	.	0.0025	0.0025	0.0024	0.0026	0.0031	0.0023	0.0022	0.0027	0.0026	0.0003	0.0099	0.0008	0	0	0.0119	0.0034	0.0031	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	84.89	4	chr9	95317672	.	G	A	84.89	.	AC=2;AF=0.25;AN=8;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=21.22;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	3	1	0	2
chr9	108874950	108874950	A	C	exonic	ELP1	.	synonymous SNV	ELP1:NM_001330749:exon34:c.T2829G:p.T943T,ELP1:NM_001318360:exon36:c.T3534G:p.T1178T,ELP1:NM_003640:exon36:c.T3876G:p.T1292T	.	1	1415	98	8	0	114	0.0387228	.	.	.	315968	ELP1-related_disorder|not_provided|Familial_dysautonomia	.|MedGen:C3661900|MONDO:MONDO:0009131,MedGen:C0013364,OMIM:223900,Orphanet:1764	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0124	0.00758786	0.0136	0.0034	0.0108	0	0.0029	0.0184	0.0176	0.0137	0.013635	2108	154602	rs61749202	0.0154	0.0156	0.0151	0.0158	0.0498	0.0153	0.0152	0.0451	0.0432	0.0033	0.0133	0.0508	0	0.0041	0.0498	0.0159	0.0178	0.0152	0.0128	0.0128	0.0129	0.0127	0.0233	0.0123	0.0121	0.0213	0.0205	0.0036	0.0011	0.0233	0.0484	0	0.0028	0.0340	0.0168	0.0151	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.044310	0.015152	0.052989	0.067251	0.000000	0.043103	0.030488	0.018939	0.08333	869.83	87	chr9	108874950	.	A	C	869.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.741;DP=261;ExcessHet=0;FS=1.788;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.17;SOR=0.484	GT:AD:DP:GQ:PL	0/1:51,36:87:99:880,0,1399	5	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1292.11	38	chr9	132897613	.	GA	G	1292.11	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.642;DP=360;ExcessHet=6.1542;FS=0.574;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=1.18;SOR=0.638	GT:AD:DP:GQ:PL	0/1:16,9:38:73:120,0,348	3	0	3	0
chr9	133437864	133437864	G	C	exonic	ADAMTS13	.	synonymous SNV	ADAMTS13:NM_139025:exon13:c.G1551C:p.G517G,ADAMTS13:NM_139026:exon13:c.G1458C:p.G486G,ADAMTS13:NM_139027:exon13:c.G1551C:p.G517G	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1505	16	1	0	18	0.00594452	.	.	.	317537	Upshaw-Schulman_syndrome|not_provided	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.000399361	0.0006	0	0.0009	0	0	0.0008	0.0011	0.0005	0.0005692	88	154602	rs148472763	0.0005	0.0005	0.0005	0.0005	0.0142	0.0005	0.0004	0.0117	0.0108	0.0001	0.0011	0.0029	0	0	0.0142	0.0004	0.0010	0.0004	0.0005	0.0005	0.0005	0.0004	0.0018	0.0004	0.0004	0.0012	0.0011	4.811e-05	0	0.0018	0.0023	0	0	0.0034	0.0004	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012133	0.005051	0.013624	0.029240	0.100000	0.000000	0.003086	0.000000	0.08333	874.83	68	chr9	133437864	.	G	C	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.17;DP=244;ExcessHet=0;FS=0.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.03;SOR=0.941	GT:AD:DP:GQ:PL	0/1:34,34:68:99:885,0,908	5	0	1	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H,ADAMTSL2:NM_014694:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	4	1025	431	62	0	555	0.213052	.	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	973.83	73	chr9	133555922	.	C	T	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.565;DP=254;ExcessHet=0;FS=4.532;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.636;SOR=1.225	GT:AD:DP:GQ:PL	0/1:34,39:73:99:984,0,856	5	0	1	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P,ADAMTSL2:NM_014694:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	0	1140	340	42	0	424	0.156805	.	.	.	508835	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1828.83	171	chr9	133568420	.	C	T	1828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.19;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.547;SOR=0.693	GT:AD:DP:GQ:PL	0/1:98,73:171:99:1839,0,2258	5	0	1	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.75	8776.7	74	chr9	133569476	.	A	G	8776.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.783;DP=442;ExcessHet=1.383;FS=0.57;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.77;SOR=0.785	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2242,222,0	0	3	3	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V,ADAMTSL2:NM_014694:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	1	1145	334	42	0	418	0.154357	.	.	.	317138	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1341.83	100	chr9	133573863	.	G	A	1341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.253;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.066;SOR=0.689	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1352,0,1073	5	0	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	964.16	3	chr10	8074278	.	G	GA	964.16	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.697;DP=58;ExcessHet=0.4139;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.366;SOR=1.565	GT:AD:DP:GQ:PL	1/1:0,3:3:9:80,9,0	0	4	2	0
chr10	16950008	16950008	G	C	exonic	CUBN	.	synonymous SNV	CUBN:NM_001081:exon34:c.C5073G:p.P1691P	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	314901	Imerslund-Grasbeck_syndrome|Imerslund-Grasbeck_syndrome_type_1	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0001	0	9.201e-05	0	0	0.0002	0	0	0.00011	17	154602	rs200977290	0.0001	0.0001	8.313e-05	0.0001	0.0007	8.722e-05	8.209e-05	0.0002	0.0001	0	0.0002	3.831e-05	0	0	0.0007	0.0001	0.0002	0	9.191e-05	9.186e-05	0.0001	8.056e-05	0.0002	5.523e-05	4.361e-05	0.0001	7.894e-05	0	0	6.539e-05	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	1535.83	150	chr10	16950008	.	G	C	1535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.58;SOR=0.701	GT:AD:DP:GQ:PL	0/1:85,65:150:99:1546,0,2179	5	0	1	0
chr10	86687235	86687235	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G511A:p.A171T,LDB3:NM_001080114:exon6:c.G511A:p.A171T,LDB3:NM_001171610:exon6:c.G856A:p.A286T,LDB3:NM_001171611:exon6:c.G856A:p.A286T,LDB3:NM_001368066:exon6:c.G511A:p.A171T,LDB3:NM_001368067:exon6:c.G511A:p.A171T,LDB3:NM_001368068:exon6:c.G511A:p.A171T	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	175315	LDB3-related_disorder|Cardiovascular_phenotype|not_specified|not_provided|Myofibrillar_myopathy_4	.|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.487	0.0895439762008	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0012	0.0003234	50	154602	rs373632943	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0	2.236e-05	0.0031	0	1.873e-05	0.0012	7.104e-05	0.0004	0.0011	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.719e-05	0.0001	8.877e-05	2.413e-05	0	6.545e-05	0.0020	0	0	0	0.0002	0	0.0002	0.095	0.37966	T	0.287	0.29639	T	0.969	0.90584	D	0.475	0.88582	P	.	.	.	.	0.999848	0.81001	D	.	.	.	-2.48	0.89071	D	-1.44	0.40468	N	0.758	0.90818	0.379	0.88787	D	0.731	0.90801	D	9	0.20944616	0.37307	T	0.089544	0.75346	D	0.487	0.77528	.	.	0.85673930684	0.85536	0.8005427467644748	0.80008	0.751670780279	0.63815	.	.	.	.	.	.	-0.141424	0.29663	T	-0.0263633	0.68610	D	0.141569112921031	0.16410	T	0.975102	0.91204	D	.	.	.	.	.	.	.	.	-6.274	0.55445	T	.	.	0.761	0.75543	P	.;.;.;.;.	.;.;.;.;.	3.285604	0.45040	22.1	0.99927132148271658	0.99163	0.99730	0.99029	D	AEFDBI	0.947084	0.95726	D	0.5939877077904	0.72796	5.862817	0.620990179665641	0.76465	6.496245	1.0	0.98316	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	18.601	0.91203	893	0.26510	.;.;Domain of unknown function DUF4749|Zasp-like motif;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	642.83	98	chr10	86687235	.	G	A	642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=301;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.398;SOR=1.024	GT:AD:DP:GQ:PL	0/1:67,31:98:99:653,0,1601	5	0	1	0
chr10	94031559	94031559	G	A	exonic	PLCE1	.	synonymous SNV	PLCE1:NM_001288989:exon2:c.G513A:p.V171V,PLCE1:NM_016341:exon2:c.G513A:p.V171V	Nephrotic syndrome, type 3, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	253926	Nephrotic_syndrome,_type_3|Focal_segmental_glomerulosclerosis|not_provided|PLCE1-related_disorder	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000998403	0.0012	0.0001	0.0010	0	0.0003	0.0017	0.0033	0.0012	0.0011837	183	154602	rs61749239	0.0011	0.0011	0.0010	0.0012	0.0161	0.0011	0.0010	0.0135	0.0125	0.0004	0.0011	0.0102	0	0	0.0161	0.0008	0.0025	0.0014	0.0011	0.0011	0.0012	0.0011	0.0015	0.0010	0.0010	0.0010	0.0009	0.0001	0	0.0015	0.0098	0	9.42e-05	0.0306	0.0012	0.0052	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013092	0.005051	0.016304	0.017544	0.000000	0.017241	0.009146	0.007576	0.1667	3340.06	151	chr10	94031559	.	G	A	3340.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.033;DP=407;ExcessHet=0.4139;FS=0.936;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.009;SOR=0.743	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1876,0,2217	4	0	2	0
chr10	100993714	100993714	G	A	UTR3	TWNK	NM_001163814:c.*554G>A;NM_001163813:c.*204G>A;NM_001368275:c.*204G>A;NM_021830:c.*204G>A;NM_001163812:c.*554G>A	.	.	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	280	1229	10	3	0	16	0.00646726	.	.	.	319797	Autosomal_recessive_cerebellar_ataxia|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Hereditary_spastic_paraplegia|not_provided|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_3|Infantile_onset_spinocerebellar_ataxia	MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0091853	.	.	.	.	.	.	.	.	0.0025938	401	154602	rs61871507	0.0155	0.0168	0.0161	0.0149	0.0196	0.0152	0.0151	0.0181	0.0179	0.0025	0.0093	0.0159	0	0.0307	0.0196	0.0185	0.0163	0.0036	0.0130	0.0129	0.0131	0.0128	0.0188	0.0125	0.0123	0.0180	0.0176	0.0026	0.0197	0.0097	0.0150	0.0002	0.0304	0.0034	0.0188	0.0095	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	62.8	6	chr10	100993714	.	G	A	62.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.15;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:72:72,0,72	5	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3426.01	20	chr10	123053169	.	AT	A	3426.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.33;DP=175;ExcessHet=0;FS=1.716;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=1.13;SOR=0.427	GT:AD:DP:GQ:PL	1/1:0,20:20:60:557,60,0	0	5	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.75	11875.7	164	chr11	2159830	.	T	G	11875.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.074;DP=616;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.407;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,69:164:99:0|1:2159830_T_G:1554,0,3642:2159830	0	3	3	0
chr11	2165659	2165659	G	A	intronic	TH	.	.	.	Segawa syndrome, recessive, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	254108	not_provided|Maturity_onset_diabetes_mellitus_in_young|Transient_Neonatal_Diabetes,_Dominant/Recessive|Autosomal_recessive_DOPA_responsive_dystonia|Generalized_dystonia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN239353|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|Human_Phenotype_Ontology:HP:0007325,MONDO:MONDO:0000476,MedGen:C1848954,Orphanet:376724|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0122	0.00539137	0.0104	0.0040	0.0031	0	0.0050	0.0166	0.0106	0.0027	0.0108149	1672	154602	rs11564717	0.0146	0.0146	0.0148	0.0143	0.0175	0.0144	0.0143	0.0173	0.0173	0.0020	0.0038	0.0078	0	0.0054	0.0026	0.0175	0.0125	0.0030	0.0101	0.0101	0.0111	0.0092	0.0176	0.0097	0.0095	0.0168	0.0165	0.0026	0.0473	0.0068	0.0084	0	0.0035	0.0034	0.0176	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	505.83	50	chr11	2165659	.	G	A	505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.948;DP=236;ExcessHet=0;FS=1.144;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.846;SOR=1.042	GT:AD:DP:GQ:PL	0/1:29,21:50:99:516,0,828	5	0	1	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2037.63	32	chr11	6616508	.	AT	A	2037.63	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.502;DP=212;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=21.91;ReadPosRankSum=0.39;SOR=1.028	GT:AD:DP:GQ:PL	0/1:2,7:32:55:615,349,309	2	0	3	1
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	346.25	6	chr11	17276578	.	C	G	346.25	.	AC=4;AF=0.5;AN=8;DP=12;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=27.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:17276557_A_C:270,18,0:17276557	2	2	0	2
chr11	17386478	17386478	A	G	UTR3	KCNJ11	NM_001166290:c.*441T>C;NM_000525:c.*441T>C;NM_001377297:c.*441T>C;NM_001377296:c.*441T>C	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	1026	376	50	70	0	190	0.201699	.	.	.	326654	Maturity-onset_diabetes_of_the_young_type_13|Type_2_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	0.0682527	10552	154602	rs2285676	0.3367	0.1870	0.3337	0.3395	0.5065	0.3296	0.3267	0.4534	0.4328	0.5065	0.3326	0.2651	0.4716	0.2585	0.3667	0.3227	0.3371	0.2928	0.4342	0.4345	0.4324	0.4362	0.5705	0.4315	0.4303	0.5645	0.5619	0.5705	0.3062	0.3914	0.3000	0.5583	0.3666	0.4048	0.3763	0.4028	0.3654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	259.67	4	chr11	17386478	.	A	G	259.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.15;DP=24;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=23.61;ReadPosRankSum=-0.319;SOR=0.399	GT:AD:DP:GQ:PL	0/1:1,3:4:31:62,0,31	3	1	1	1
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	5553.62	49	chr11	17386857	.	C	T	5553.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.75;DP=277;ExcessHet=0.1336;FS=3.01;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=1.17;SOR=0.959	GT:AD:DP:GQ:PL	0/1:28,21:49:99:609,0,811	1	3	2	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3446.51	40	chr11	17408375	.	T	C	3446.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.798;DP=213;ExcessHet=0.095;FS=6.67;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=0.939;SOR=0.235	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1365,120,0	2	2	2	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	803.64	10	chr11	17414293	.	A	G	803.64	.	AC=6;AF=0.6;AN=10;BaseQRankSum=-2.45;DP=57;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.28;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,10:10:30:347,30,0	1	2	2	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3100.51	31	chr11	17414389	.	G	A	3100.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.421;DP=161;ExcessHet=0.095;FS=3.026;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.45;ReadPosRankSum=-0.735;SOR=1.348	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1196,93,0	2	2	2	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4470.51	47	chr11	17414419	.	G	A	4470.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.754;DP=237;ExcessHet=0.095;FS=3.38;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.93;ReadPosRankSum=0.132;SOR=1.213	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1671,141,0	2	2	2	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5392.9	60	chr11	17415389	.	A	G	5392.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.08;DP=299;ExcessHet=0.7136;FS=9.048;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=0.667;SOR=0.348	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1945,180,0	1	2	3	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10825.5	161	chr11	17463424	.	G	A	10825.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.684;DP=681;ExcessHet=0.7136;FS=1.927;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.512;SOR=0.913	GT:AD:DP:GQ:PL	0/1:96,65:161:99:1620,0,2699	2	1	3	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.5833	18271.9	238	chr11	17474969	.	A	G	18271.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.112;DP=1356;ExcessHet=6.1542;FS=0.525;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.27;SOR=0.66	GT:AD:DP:GQ:PL	0/1:111,127:238:99:3170,0,2810	0	1	5	0
chr11	31793737	31793737	C	T	exonic	PAX6	.	synonymous SNV	PAX6:NM_001368930:exon4:c.G228A:p.Q76Q,PAX6:NM_001368902:exon6:c.G423A:p.Q141Q,PAX6:NM_001368907:exon6:c.G423A:p.Q141Q,PAX6:NM_001368909:exon6:c.G423A:p.Q141Q,PAX6:NM_001310160:exon7:c.G423A:p.Q141Q,PAX6:NM_001368899:exon7:c.G423A:p.Q141Q,PAX6:NM_001368901:exon7:c.G423A:p.Q141Q,PAX6:NM_001368903:exon7:c.G423A:p.Q141Q,PAX6:NM_001368929:exon7:c.G423A:p.Q141Q,PAX6:NM_001310159:exon8:c.G831A:p.Q277Q,PAX6:NM_001310161:exon8:c.G423A:p.Q141Q,PAX6:NM_001368900:exon8:c.G423A:p.Q141Q,PAX6:NM_001368904:exon8:c.G423A:p.Q141Q,PAX6:NM_001368906:exon8:c.G423A:p.Q141Q,PAX6:NM_001368908:exon8:c.G423A:p.Q141Q,PAX6:NM_001368911:exon8:c.G876A:p.Q292Q,PAX6:NM_001258465:exon9:c.G831A:p.Q277Q,PAX6:NM_001368889:exon9:c.G831A:p.Q277Q,PAX6:NM_001368891:exon9:c.G831A:p.Q277Q,PAX6:NM_001368916:exon9:c.G831A:p.Q277Q,PAX6:NM_001368920:exon9:c.G906A:p.Q302Q,PAX6:NM_001368928:exon9:c.G630A:p.Q210Q,PAX6:NM_000280:exon10:c.G831A:p.Q277Q,PAX6:NM_001127612:exon10:c.G831A:p.Q277Q,PAX6:NM_001258464:exon10:c.G831A:p.Q277Q,PAX6:NM_001368887:exon10:c.G831A:p.Q277Q,PAX6:NM_001368888:exon10:c.G831A:p.Q277Q,PAX6:NM_001368890:exon10:c.G831A:p.Q277Q,PAX6:NM_001368892:exon10:c.G873A:p.Q291Q,PAX6:NM_001368905:exon10:c.G423A:p.Q141Q,PAX6:NM_001368913:exon10:c.G873A:p.Q291Q,PAX6:NM_001368915:exon10:c.G831A:p.Q277Q,PAX6:NM_001368917:exon10:c.G831A:p.Q277Q,PAX6:NM_001368918:exon10:c.G948A:p.Q316Q,PAX6:NM_001368924:exon10:c.G672A:p.Q224Q,PAX6:NM_001368925:exon10:c.G672A:p.Q224Q,PAX6:NM_001258462:exon11:c.G873A:p.Q291Q,PAX6:NM_001258463:exon11:c.G873A:p.Q291Q,PAX6:NM_001310158:exon11:c.G873A:p.Q291Q,PAX6:NM_001368894:exon11:c.G873A:p.Q291Q,PAX6:NM_001368910:exon11:c.G1074A:p.Q358Q,PAX6:NM_001368912:exon11:c.G873A:p.Q291Q,PAX6:NM_001368914:exon11:c.G873A:p.Q291Q,PAX6:NM_001368919:exon11:c.G948A:p.Q316Q,PAX6:NM_001368921:exon11:c.G672A:p.Q224Q,PAX6:NM_001368922:exon11:c.G672A:p.Q224Q,PAX6:NM_001368923:exon11:c.G672A:p.Q224Q,PAX6:NM_001368926:exon11:c.G672A:p.Q224Q,PAX6:NM_001368927:exon11:c.G672A:p.Q224Q,PAX6:NM_001604:exon11:c.G873A:p.Q291Q,PAX6:NM_001368893:exon12:c.G873A:p.Q291Q	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	YES	327276	Aniridia_1|Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability|carboxymethyl-dextran-A2-gadolinium-DOTA|Anophthalmia-microphthalmia_syndrome|11p_partial_monosomy_syndrome|Irido-corneo-trabecular_dysgenesis|Autosomal_dominant_keratitis|Foveal_hypoplasia_1|not_provided	MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923|MedGen:CN239197|.|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0014	0.00119808	0.0012	0.0003	0.0028	0.0001	0	0.0012	0.0022	0.0020	0.0012031	186	154602	rs149053004	0.0011	0.0011	0.0011	0.0012	0.0061	0.0011	0.0011	0.0045	0.0039	0.0004	0.0020	0.0023	7.557e-05	0	0.0061	0.0011	0.0011	0.0017	0.0009	0.0009	0.0007	0.0010	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0	0.0015	0.0012	0	0	0.0034	0.0012	0.0005	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	0	1	0.004532	0.000000	0.001359	0.008772	0.000000	0.008621	0.009146	0.007576	0.1667	19398.0	598	chr11	31793737	.	C	T	19398.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.23;DP=797;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=0.66;SOR=1.105	GT:AD:DP:GQ:PL	1/1:2,596:598:99:19418,1745,0	5	1	0	0
chr11	77156699	77156699	G	A	exonic	MYO7A	.	synonymous SNV	MYO7A:NM_000260:exon6:c.G510A:p.L170L,MYO7A:NM_001127180:exon6:c.G510A:p.L170L,MYO7A:NM_001369365:exon7:c.G477A:p.L159L	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1479	41	2	0	45	0.014985	.	.	.	52442	Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|MYO7A-related_disorder|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|.|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0025	0.0005	0.0021	0	0.0002	0.0031	0.0022	0.0040	0.0023738	367	154602	rs34477144	0.0018	0.0018	0.0016	0.0019	0.0347	0.0017	0.0017	0.0308	0.0292	0.0011	0.0030	0.0112	0	0.0001	0.0347	0.0012	0.0035	0.0039	0.0015	0.0015	0.0017	0.0013	0.0029	0.0013	0.0013	0.0018	0.0014	0.0005	0	0.0017	0.0115	0.0002	9.411e-05	0.0374	0.0016	0.0024	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.021148	0.015152	0.025815	0.032164	0.050000	0.008621	0.009146	0.007576	0.1667	3390.04	103	chr11	77156699	.	G	A	3390.04	.	AC=2;AF=0.167;AN=12;DP=278;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.91;SOR=2.063	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3410,309,0	5	1	0	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.4167	14677.5	210	chr11	89178528	.	C	A	14677.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.939;DP=919;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=0.757;SOR=0.679	GT:AD:DP:GQ:PL	1/1:0,210:210:99:7225,631,0	2	1	3	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	3196.01	20	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	3196.01	.	AC=11;AF=0.917;AN=12;BaseQRankSum=1.49;DP=279;ExcessHet=0;FS=1.571;MLEAC=11;MLEAF=0.917;MQ=59.26;MQRankSum=-0.836;QD=26.7;ReadPosRankSum=-0.05;SOR=1.134	GT:AD:DP:GQ:PL	1/1:0,20:20:72:865,72,0	0	5	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2521.25	35	chr12	21174718	.	T	TA	2521.25	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=258;ExcessHet=3.1439;FS=0.717;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.24;SOR=0.577	GT:AD:DP:GQ:PL	1/0:1,29:35:18:761,95,18	0	0	6	0
chr12	21910317	21910317	-	A	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	54552	not_provided|Dilated_Cardiomyopathy,_Dominant|Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation	MedGen:C3661900|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0432	0.0626	0.0248	0.0504	0.0313	0.0394	0.0651	0.0612	0.0001153	3	26028	rs397517182	0.0468	0.0641	0.0466	0.0470	0.0796	0.0465	0.0464	0.0768	0.0756	0.0796	0.0411	0.0768	0.0586	0.0312	0.0791	0.0435	0.0548	0.0677	0.0267	0.0256	0.0261	0.0272	0.0465	0.0259	0.0256	0.0445	0.0437	0.0465	0.1444	0.0290	0.0405	0.0116	0.0065	0.0773	0.0160	0.0326	0.0255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1486.56	12	chr12	21910317	.	C	CA	1486.56	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.291;DP=148;ExcessHet=3.1439;FS=3.228;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.108;SOR=0.389	GT:AD:DP:GQ:PL	0/1:10,2:12:14:14,0,209	4	0	2	0
chr12	31090065	31090065	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon9:c.G1060A:p.G354R,DDX11:NM_001257145:exon9:c.G982A:p.G328R,DDX11:NM_004399:exon9:c.G1060A:p.G354R,DDX11:NM_030653:exon9:c.G1060A:p.G354R,DDX11:NM_152438:exon9:c.G1060A:p.G354R	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1675896	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.663	.	.	0.104034	5.905e-05	0	0	0	0	0	0	0.0001	0.0200169	521	26028	rs71230307	0.0022	0.0338	0.0024	0.0019	0.0027	0.0021	0.0021	0.0026	0.0026	0.0010	9.173e-05	0.0003	0.0004	0.0001	0.0003	0.0027	0.0017	0.0007	9.004e-05	0.0014	9.439e-05	8.545e-05	0.0002	5.314e-05	4.16e-05	4.026e-05	2.682e-05	7.565e-05	0	0	0	0.0002	0.0001	0	9.278e-05	0.0005	0.0002	0.05	0.44029	D	0.004	0.74150	D	1.0	0.90584	D	0.973	0.78936	D	0.000399	0.44960	D	0.224870	0.962849	0.81001	D	.	.	.	-0.49	0.70597	T	-3.69	0.73151	D	0.861	0.85766	-0.0828	0.80492	T	0.471	0.79637	T	10	0.012735605	0.00272	T	.	.	.	0.663	0.87430	0.698	0.83499	0.913261317979	0.91239	0.8464075626334878	0.84601	.	.	0.702727437019	0.67538	T	0.48776	0.81368	T	0.0834363	0.62442	D	-0.117926	0.61973	T	0.969016373157501	0.68442	D	0.775222	0.40735	T	0.678959	0.76913	0.5836855	0.75862	0.678959	0.76914	0.5836855	0.75863	-9.871	0.75554	D	.	.	0.892	0.83892	P	.;.;.;.	.;.;.;.	4.638810	0.73833	26.1	0.9990860106244267	0.97875	0.84487	0.43569	D	AEFBI	0.439166	0.49825	N	0.582356054431838	0.72074	5.748804	0.502344459658018	0.68147	5.180301	0.00113139165221889	0.08261	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	3.98	0.45383	4.715000	0.61600	7.263000	0.57966	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.0:0.0:0.7785:0.2215	8.967	0.35044	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.1667	36.07	19	chr12	31090065	.	G	A	36.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=113;ExcessHet=0.4139;FS=8.432;MLEAC=2;MLEAF=0.167;MQ=36.48;MQRankSum=-1.604;QD=1.09;ReadPosRankSum=0.457;SOR=2.833	GT:AD:DP:GQ:PL	0/1:16,3:19:32:32,0,392	4	0	2	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1043.84	21	chr12	47845054	.	C	A	1043.84	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-0.566;DP=65;ExcessHet=1.181;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.72;ReadPosRankSum=-0.816;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,21:21:63:760,63,0	1	1	3	1
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.75	7656.7	75	chr12	47879112	.	A	G	7656.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.522;DP=384;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=-0.318;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2299,225,0	0	3	3	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	554.49	7	chr12	114684071	.	G	GGAGA	554.49	.	AC=5;AF=0.625;AN=8;BaseQRankSum=0.366;DP=16;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=28.48;ReadPosRankSum=-1.465;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,6:7:24:237,0,24	1	2	1	2
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6667	7616.62	100	chr12	120978819	.	C	G	7616.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.53;DP=356;ExcessHet=0.1336;FS=0;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.708;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3080,297,0	1	3	2	0
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.1667	2445.06	136	chr12	120994314	.	G	C	2445.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.548;DP=431;ExcessHet=0.4139;FS=1.505;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.374;SOR=0.587	GT:AD:DP:GQ:PL	0/1:61,75:136:99:1592,0,1686	4	0	2	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6667	15878.6	128	chr12	120997672	.	G	A	15878.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.05;DP=694;ExcessHet=0.1336;FS=1.426;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.58;ReadPosRankSum=1.25;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1504,0,1684	1	3	2	0
chr12	120999311	120999311	G	A	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon8:c.G1545A:p.T515T,HNF1A:NM_001306179:exon8:c.G1545A:p.T515T	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	6	1117	359	40	0	439	0.164235	.	.	.	134678	not_provided|Maturity-onset_diabetes_of_the_young_type_3|Insulin-resistant_diabetes_mellitus|not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1406	0.0628994	0.1404	0.0314	0.0832	0.0002	0.2201	0.2028	0.1604	0.0378	0.14179	21921	154602	rs55834942	0.1737	0.1737	0.1765	0.1709	0.1945	0.1731	0.1729	0.1938	0.1935	0.0288	0.0922	0.2178	0.0002	0.2269	0.1664	0.1945	0.1672	0.0430	0.1314	0.1316	0.1348	0.1279	0.1933	0.1299	0.1293	0.1906	0.1894	0.0320	0.1184	0.1158	0.2156	0.0012	0.2217	0.1735	0.1933	0.1504	0.0380	.	.	.	0.327	0.18732	T	.	.	.	.	.	.	.	.	.	.	1.73528e-07	0.58761	P	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.0015262663	0.00017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228977	0.59467	T	-0.670285	0.00055	T	-0.591775	0.13514	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17615	B	.	.	0.601294	0.09695	6.467	0.87586234059153356	0.17334	0.06033	0.12001	N	AEFDBHCI	0.012670	0.00144	N	.	.	.	.	.	.	0.999999993559442	0.74766	0.428477	0.06694	0	0.514364	0.08380	0	0.587068	0.30358	0	0.613276	0.41899	0	.	.	5.52	-7.74	0.01103	-1.465000	0.02463	-4.648000	0.02052	-0.135000	0.12811	0.001000	0.13787	0.000000	0.08366	0.987000	0.62547	0.6039:0.1731:0.1294:0.0937	5.290	0.15034	374	0.84073	.	C12orf43|C12orf43|P2RX4|UNC119B|P2RX4|SPPL3|SPPL3|P2RX4|SPPL3|P2RX4|P2RX4|P2RX4|P2RX4|P2RX4|GATC|COQ5|P2RX4|SPPL3|C12orf43|P2RX4|P2RX4|P2RX4|P2RX4|SPPL3|ACADS|P2RX4|P2RX4	Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	POP5|POP5|C12orf43	Adipose_Subcutaneous|Testis|Testis	rs55834942	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	0.159617	0.151515	0.210598	0.128655	0.150000	0.129310	0.155488	0.117424	0.1667	3994.06	157	chr12	120999311	.	G	A	3994.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=478;ExcessHet=0.4139;FS=5.826;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.03;SOR=0.459	GT:AD:DP:GQ:PL	0/1:80,77:157:99:2016,0,1980	4	0	2	0
chr12	123751188	123751188	T	C	exonic	ATP6V0A2	.	synonymous SNV	ATP6V0A2:NM_012463:exon16:c.T2014C:p.L672L	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	YES	323664	not_provided|ALG9_congenital_disorder_of_glycosylation|Cutis_laxa_with_osteodystrophy	MedGen:C3661900|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0005	0	0.0003	0	0	0.0005	0.0011	0.0014	0.000401	62	154602	rs367950442	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0033	0.0028	8.961e-05	0.0002	3.826e-05	0	0	0.0047	0.0002	0.0006	0.0017	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	2.405e-05	0	0.0005	0	0	0	0.0170	0.0003	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	689.83	74	chr12	123751188	.	T	C	689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=250;ExcessHet=0;FS=0.889;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.595;SOR=0.565	GT:AD:DP:GQ:PL	0/1:44,30:74:99:700,0,1184	5	0	1	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1700.48	29	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	1700.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.02;DP=197;ExcessHet=6.1542;FS=1.619;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.939;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,7:29:99:.:.:231,0,900:.	1	0	5	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:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3181.72	17	chr13	23320613	.	TTG	T	3181.72	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.191;DP=122;ExcessHet=0.7136;FS=1.107;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=32.8;ReadPosRankSum=1.34;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,10:17:99:.:.:270,0,177:.	4	0	2	0
chr14	22774471	22774471	T	G	exonic	SLC7A7	.	nonsynonymous SNV	SLC7A7:NM_003982:exon8:c.A1128C:p.E376D,SLC7A7:NM_001126105:exon9:c.A1128C:p.E376D,SLC7A7:NM_001126106:exon9:c.A1128C:p.E376D	Lysinuric protein intolerance, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	328916	Lysinuric_protein_intolerance|Autoinflammatory_syndrome	MONDO:MONDO:0009109,MedGen:C0268647,OMIM:222700,Orphanet:470|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0173058405061	0.0004	.	0.0001	0	8.637e-05	0	0	0.0002	0.0011	0	0.0001552	24	154602	rs139619724	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	7.541e-05	0	0	0.0039	0	0	0.0005	5.216e-05	0.0004	5.797e-05	7.888e-05	7.881e-05	0.0001	4.037e-05	5.881e-05	4.498e-05	3.514e-05	1.972e-05	1.125e-05	0	0	0	0.0023	0	0	0	5.881e-05	0	0	0.312	0.13925	T	0.534	0.14034	T	0.02	0.18235	B	0.072	0.28043	B	0.000000	0.84330	N	0.045500	0.999917	0.52935	D	1.38	0.34346	L	-2.53	0.89430	D	-0.79	0.27463	N	0.31	0.37405	-0.7336	0.58781	T	0.421	0.76637	T	10	0.026293337	0.00800	T	0.017306	0.38957	T	0.289	0.60808	0.507	0.60232	0.454426139905	0.45068	0.6179654629616598	0.61729	0.188844913208	0.21202	0.584623098373	0.50737	T	0.459631	0.79713	T	-0.198545	0.21015	T	-0.274663	0.47349	T	0.020420056590304	0.00742	T	0.827517	0.49142	T	0.1912375	0.40742	0.08491419	0.19568	0.1912375	0.40742	0.08491419	0.19568	-6.432	0.49759	T	.	.	0.139	0.36093	B	.;.;.;.;.;.	.;.;.;.;.;.	1.808306	0.22980	15.84	0.98043183080338425	0.37805	0.41583	0.26689	N	AEFDBHCI	0.399446	0.47472	N	-0.934143520436759	0.10051	0.4784947	-0.809555566861106	0.14264	0.7444435	0.999205900402877	0.38742	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	6.17	0.938	0.18625	-0.396000	0.07338	-0.510000	0.08751	-0.883000	0.02445	0.147000	0.23610	0.032000	0.21310	0.946000	0.48989	0.2744:0.3494:0.0:0.3762	3.540	0.07364	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	921.83	71	chr14	22774471	.	T	G	921.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.829;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.217;SOR=0.786	GT:AD:DP:GQ:PL	0/1:37,34:71:99:932,0,1002	5	0	1	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	860.21	42	chr14	23389062	.	AG	A	860.21	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.95;DP=218;ExcessHet=0.4139;FS=1.092;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.39;SOR=0.963	GT:AD:DP:GQ:PL	0/1:21,21:42:99:475,0,471	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1400.79	68	chr14	23419114	.	T	TG	1400.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.916;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=0.91;SOR=0.808	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1411,0,927	5	0	1	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1573.9	9	chr14	45159080	.	TTA	T	1573.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.668;DP=120;ExcessHet=0.1336;FS=6.708;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=1.73;SOR=0.184	GT:AD:DP:GQ:PL	0/1:7,2:9:50:50,0,241	3	1	2	0
chr14	53949883	53949883	-	A	UTR3	BMP4	NM_001202:c.*148_*149insT;NM_001347917:c.*148_*149insT;NM_001347916:c.*148_*149insT;NM_001347915:c.*148_*149insT;NM_001347914:c.*148_*149insT;NM_001347913:c.*148_*149insT;NM_001347912:c.*148_*149insT;NM_130851:c.*148_*149insT;NM_130850:c.*148_*149insT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	1179	237	2	4	100	110	0.0206612	.	.	.	320697	not_provided|Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|Orofacial_cleft	MedGen:C3661900|MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1491520594	0.1155	0.1173	0.1166	0.1144	0.1279	0.1147	0.1144	0.1269	0.1265	0.0529	0.0697	0.0985	0.0316	0.1596	0.0756	0.1279	0.1092	0.0748	0.0155	0.0167	0.0151	0.0160	0.0320	0.0150	0.0148	0.0304	0.0297	0.0320	0.0152	0.0116	0.0037	0.0024	0.0204	0.0123	0.0096	0.0105	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	145.52	2	chr14	53949883	.	C	CA	145.52	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=29.1;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,2:2:6:56,6,0	2	1	0	3
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.1667	2781.06	127	chr14	61740839	.	C	T	2781.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.909;DP=456;ExcessHet=0.4139;FS=1.434;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.945;SOR=0.606	GT:AD:DP:GQ:PL	0/1:87,40:127:99:910,0,2433	4	0	2	0
chr14	77435849	77435849	T	C	exonic	VIPAS39	.	nonsynonymous SNV	VIPAS39:NM_001193316:exon12:c.A760G:p.I254V,VIPAS39:NM_001193314:exon13:c.A907G:p.I303V,VIPAS39:NM_001193315:exon13:c.A907G:p.I303V,VIPAS39:NM_001193317:exon13:c.A907G:p.I303V,VIPAS39:NM_022067:exon14:c.A907G:p.I303V	Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	1919413	Inborn_genetic_diseases|Arthrogryposis,_renal_dysfunction,_and_cholestasis_2|VIPAS39-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013255,MedGen:C3150672,OMIM:613404,Orphanet:2697|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0108999416905	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760795319	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0040	1.61e-05	1.416e-05	0.0027	0.0023	2.988e-05	0	0	0	0	0.0040	6.295e-06	1.656e-05	1.159e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.26740	T	0.041	0.50809	D	0.118	0.26577	B	0.136	0.33270	B	0.000007	0.62929	D	0.142631	0.999995	0.58761	D	1.52	0.38360	L	0.91	0.44856	T	-0.46	0.14978	N	0.422	0.46180	-1.0099	0.26949	T	0.108	0.39147	T	10	0.31477988	0.48916	T	0.011	0.27957	T	0.087	0.25287	0.617	0.75116	0.42886291518	0.42503	0.3750092851199869	0.37414	0.244761738464	0.26983	0.508945941925	0.40075	T	0.045604	0.27172	T	-0.174258	0.24593	T	-0.488086	0.23592	T	0.752516686916351	0.43425	D	0.868613	0.57103	D	0.041953344	0.06274	0.050929755	0.08092	0.041953344	0.06274	0.050929755	0.08092	-3.751	0.20074	T	0.2808078224063271	0.37608	0.096	0.15206	B	.;.;.;.;.;.	.;.;.;.;.;.	3.101100	0.41791	21.4	0.99489358191664512	0.67347	0.94229	0.60507	D	AEGBI	0.447418	0.50307	N	0.0536439635034095	0.44309	2.707413	0.203852987973281	0.50061	3.202149	0.989649435504163	0.31891	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	4.811000	0.62296	7.801000	0.69150	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0804:0.0:0.9196	9.518	0.38280	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.08333	877.83	88	chr14	77435849	.	T	C	877.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.399;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.702;SOR=0.735	GT:AD:DP:GQ:PL	0/1:51,37:88:99:888,0,1302	5	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5211.8	50	chr14	92071009	.	C	CG	5211.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.332;DP=351;ExcessHet=0.7136;FS=1.881;MLEAC=5;MLEAF=0.5;MQ=59.52;MQRankSum=-1.431;QD=24.13;ReadPosRankSum=-0.931;SOR=0.865	GT:AD:DP:GQ:PL	0/1:22,28:50:99:1041,0,778	1	1	3	1
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	23	1096	320	83	0	486	0.181479	.	.	.	505595	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	371.04	15	chr14	95115562	.	G	A	371.04	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.89;DP=75;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.228;SOR=0.823	GT:AD:DP:GQ:PL	0/1:9,6:15:99:203,0,338	3	0	3	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9882.16	63	chr15	34791307	.	TCACA	T	9882.16	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.927;DP=713;ExcessHet=0;FS=3.472;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=33.05;ReadPosRankSum=0.782;SOR=0.968	GT:AD:DP:GQ:PL	0/1:33,25:63:99:915,0,1327	3	0	3	0
chr15	41856598	41856598	T	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon53:c.A8809T:p.N2937Y	.	422	1074	26	0	0	26	0.0119595	0.2225	0.45	.	797119	not_provided|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.155	.	0.0045	0.00159744	0.0065	0.0006	0.0032	0	0.0018	0.0097	0.0054	0.0030	0.0042302	654	154602	rs200163654	0.0063	0.0063	0.0064	0.0062	0.0080	0.0062	0.0061	0.0073	0.0073	0.0008	0.0028	0.0025	2.589e-05	0.0016	0.0080	0.0074	0.0048	0.0023	0.0047	0.0047	0.0051	0.0043	0.0084	0.0044	0.0043	0.0078	0.0076	0.0011	0	0.0035	0.0032	0	0.0010	0.0102	0.0084	0.0047	0.0017	0.023	0.48186	D	0.003	0.76473	D	0.989	0.62824	D	0.832	0.59730	P	0.016693	0.27912	N	0.333168	0.959119	0.38110	D	2.655	0.77738	M	0.75	0.50192	T	-4.54	0.78472	D	0.62	0.63544	-0.6326	0.63460	T	0.191	0.54330	T	10	0.010663599	0.00236	T	0.279638	0.90184	D	0.155	0.40530	.	.	0.832998634691	0.83140	0.144041453788278	0.14327	.	.	0.479254662991	0.35954	T	0.107492	0.41975	T	-0.429509	0.01492	T	-0.383763	0.35282	T	0.020169583744429	0.00717	T	0.455954	0.13062	T	0.27375516	0.50442	0.32191783	0.58136	0.27375516	0.50442	0.32191783	0.58136	-7.645	0.58624	D	.	.	0.161	0.35560	B	.	.	4.076076	0.60593	24.2	0.99373321489491717	0.61541	0.99036	0.90290	D	AEFBI	0.544902	0.55963	D	0.507940657412181	0.67557	5.097722	0.455150328200635	0.65048	4.774721	0.999999494109063	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	3.889000	0.55925	3.063000	0.36168	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:0.0:1.0	14.742	0.69084	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.005102	0.017711	0.005917	0.000000	0.008772	0.000000	0.007634	0.08333	1260.83	56	chr15	41856598	.	T	A	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.83;DP=355;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.199;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,32:56:99:0|1:41856598_T_A:1271,0,911:41856598	5	0	1	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I	.	433	876	190	23	0	236	0.118712	.	.	.	19846	Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|TRPM7-related_disorder|Juvenile_amyotrophic_lateral_sclerosis|not_provided	.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.087702	0.071429	0.084239	0.070175	0.050000	0.120690	0.097561	0.090909	0.1667	2305.06	60	chr15	50586433	.	G	A	2305.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.08;DP=325;ExcessHet=0.4139;FS=0.563;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.204;SOR=0.745	GT:AD:DP:GQ:PL	0/1:29,31:60:99:820,0,636	4	0	2	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	18492.6	99	chr15	59256276	.	C	T	18492.6	.	AC=12;AF=1;AN=12;DP=654;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=28.49;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2861,297,0	0	6	0	0
chr15	62028419	62028419	G	A	exonic	VPS13C	.	synonymous SNV	VPS13C:NM_001018088:exon6:c.C387T:p.G129G,VPS13C:NM_020821:exon6:c.C387T:p.G129G	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	432	1077	13	0	0	13	0.00599908	0.0002	0.038	.	538444	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_23	MedGen:C3661900|MONDO:MONDO:0014796,MedGen:C4225186,OMIM:616840,Orphanet:2828	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0005	9.666e-05	8.667e-05	0	0	0.0008	0.0044	0.0004	0.0004786	74	154602	rs139665824	0.0005	0.0005	0.0004	0.0005	0.0045	0.0004	0.0004	0.0032	0.0027	5.989e-05	0.0005	0.0046	0	0	0.0045	0.0004	0.0012	0.0003	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0004	4.831e-05	0.0164	0.0009	0.0038	0	0	0	0.0006	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.005539	0.000000	0.002717	0.014620	0.050000	0.000000	0.009146	0.000000	0.08333	362.83	41	chr15	62028419	.	G	A	362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.491;DP=213;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.172;SOR=0.458	GT:AD:DP:GQ:PL	0/1:24,17:41:99:373,0,643	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1472.76	5	chr15	68207979	.	GACAC	G	1472.76	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.045;DP=46;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=1.61;SOR=1.329	GT:AD:DP:GQ:PL	1/0:0,3:5:70:191,70,75	1	2	3	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1472.76	5	chr15	68207979	.	G	GAC	1472.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.045;DP=46;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=1.61;SOR=1.329	GT:AD:DP:GQ:PL	0/1:0,2:5:70:191,126,120	2	0	4	0
chr15	71747041	71747041	C	T	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon7:c.C1160T:p.S387L,THSD4:NM_024817:exon12:c.C2240T:p.S747L	.	429	1084	9	0	0	9	0.00413413	0.9205	0.622	.	2364984	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Aortic_aneurysm,_familial_thoracic_12	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0030731,MedGen:C5676959,OMIM:619825	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.0155934252831	0.0005	0.000199681	0.0007	0	0.0008	0	0	0.0008	0.002	0.0008	0.000401	62	154602	rs146042172	0.0004	0.0004	0.0004	0.0005	0.0099	0.0004	0.0004	0.0079	0.0071	0.0004	0.0007	0.0025	0	0	0.0099	0.0003	0.0010	0.0006	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0010	0.0023	0	0	0.0102	0.0005	0.0009	0.0004	0.053	0.38863	T	0.253	0.23501	T	0.589	0.39027	P	0.141	0.33616	B	.	.	.	.	0.990364	0.41143	D	1.1	0.28011	L	0.56	0.54540	T	-2.32	0.52612	N	0.643	0.69125	-1.0072	0.27789	T	0.100	0.37162	T	9	0.08216873	0.13532	T	0.015593	0.36407	T	0.118	0.32913	.	.	0.499281839539	0.49564	0.14918880482100783	0.14840	0.171652307546	0.19330	0.690563082695	0.65787	T	0.174235	0.52339	T	-0.291314	0.09505	T	-0.283964	0.46397	T	0.0309157445667508	0.02132	T	0.928607	0.73726	D	0.14138943	0.32581	0.20580995	0.44767	0.14138943	0.32581	0.20580995	0.44766	-8.291	0.63035	D	.	.	0.118	0.24192	B	.;.	.;.	5.011936	0.83234	28.0	0.9980204979446694	0.88639	0.78548	0.38769	D	AEFGBHCI	0.783381	0.71438	D	0.0866694203251143	0.45840	2.833997	0.238434459319856	0.51996	3.377414	0.999999999998211	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	5.879000	0.69436	7.514000	0.59661	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:1.0:0.0:0.0	15.679	0.77111	945	0.12563	.;.	.	.	.	.	.	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	0.009119	0.000000	0.008152	0.029586	0.000000	0.000000	0.003067	0.003788	0.08333	533.83	51	chr15	71747041	.	C	T	533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.93;DP=225;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.74;SOR=1.473	GT:AD:DP:GQ:PL	0/1:33,18:51:99:544,0,795	5	0	1	0
chr16	2084981	2084983	CTT	-	exonic	TSC2	.	nonframeshift deletion	TSC2:NM_001318831:exon31:c.3792_3794del:p.F1266del,TSC2:NM_001318827:exon32:c.4215_4217del:p.F1407del,TSC2:NM_001318829:exon32:c.4179_4181del:p.F1395del,TSC2:NM_001077183:exon33:c.4323_4325del:p.F1443del,TSC2:NM_001318832:exon33:c.4356_4358del:p.F1454del,TSC2:NM_001363528:exon33:c.4326_4328del:p.F1444del,TSC2:NM_001114382:exon34:c.4455_4457del:p.F1487del,TSC2:NM_001370404:exon34:c.4392_4394del:p.F1466del,TSC2:NM_001370405:exon34:c.4395_4397del:p.F1467del,TSC2:NM_021055:exon34:c.4395_4397del:p.F1467del,TSC2:NM_000548:exon35:c.4524_4526del:p.F1510del	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1486	36	0	0	36	0.0119681	.	.	.	58464	Lung_lymphangioleiomyomatosis|Tuberous_sclerosis_2|Hereditary_cancer-predisposing_syndrome|not_specified|Tuberous_sclerosis_syndrome|not_provided	MONDO:MONDO:0006277,MedGen:C0349649,Orphanet:538|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0044	0.00399361	0.0053	0.0007	0.0010	0.0001	0.0053	0.0065	0.0045	0.0094	0.0006147	16	26028	rs137854239	0.0054	0.0054	0.0051	0.0056	0.0099	0.0053	0.0052	0.0094	0.0091	0.0006	0.0015	0.0338	7.557e-05	0.0048	0.0069	0.0048	0.0075	0.0099	0.0036	0.0036	0.0035	0.0038	0.0091	0.0034	0.0033	0.0070	0.0062	0.0006	0	0.0021	0.0302	0.0004	0.0061	0.0136	0.0039	0.0024	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	3695.79	215	chr16	2084980	.	CCTT	C	3695.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.14;DP=398;ExcessHet=0;FS=0.504;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.505;SOR=0.759	GT:AD:DP:GQ:PL	0/1:118,97:215:99:3706,0,4648	5	0	1	0
chr16	2088096	2088096	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.G4385A:p.R1462H,TSC2:NM_001318827:exon37:c.G4808A:p.R1603H,TSC2:NM_001318829:exon37:c.G4772A:p.R1591H,TSC2:NM_001077183:exon38:c.G4916A:p.R1639H,TSC2:NM_001318832:exon38:c.G4949A:p.R1650H,TSC2:NM_001363528:exon38:c.G4919A:p.R1640H,TSC2:NM_001114382:exon39:c.G5048A:p.R1683H,TSC2:NM_001370404:exon39:c.G4985A:p.R1662H,TSC2:NM_001370405:exon39:c.G4988A:p.R1663H,TSC2:NM_021055:exon39:c.G4988A:p.R1663H,TSC2:NM_000548:exon40:c.G5117A:p.R1706H	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	58618	Tuberous_sclerosis_syndrome|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|not_provided|Ovarian_cancer|TSC2-related_disorder|Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.603	0.0700155671428	.	0.000199681	5.831e-05	0	0	0	0	6.097e-05	0.0011	0.0001	5.82e-05	9	154602	rs45517392	9.791e-05	9.919e-05	0.0001	9.221e-05	0.0005	8.451e-05	7.928e-05	0.0001	7.541e-05	0	0.0001	0	0	5.756e-05	0.0005	9.622e-05	0.0003	8.115e-05	7.221e-05	7.218e-05	8.992e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.821e-05	0	0.0002	0.109	0.31532	T	0.043	0.50514	D	0.01	0.15535	B	0.007	0.12992	B	0.022613	0.26600	N	0.342750	0.992287	0.41604	D	1.095	0.27400	L	-3.59	0.94975	D	-1.59	0.45949	N	0.58	0.60156	0.105	0.84272	D	0.672	0.88650	D	10	0.21449265	0.37973	T	0.070016	0.70887	D	0.603	0.84345	0.51	0.60693	0.967183185669	0.96683	0.4366113362109103	0.43578	.	.	0.342073023319	0.16748	T	0.845342	0.96430	D	0.0768075	0.61665	D	0.141852	0.79665	D	0.0560189597308636	0.06528	T	0.90141	0.67446	D	0.14639221	0.33515	0.06258713	0.12267	0.19125472	0.40745	0.0706193	0.15024	-6.304	0.49992	T	0.23275594817303685	0.31504	0.075	0.14797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.530993	0.49542	22.8	0.99446760388939814	0.65071	0.75809	0.37137	D	AEFDGBCI	0.411570	0.48199	N	-0.142331394342387	0.35562	2.044224	0.00356565001258005	0.39880	2.371379	0.999999949781252	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	3.502000	0.53092	4.460000	0.43455	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.2457:0.0:0.7543:0.0	6.065	0.19085	779	0.47767	Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1518.83	157	chr16	2088096	.	G	A	1518.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.342;DP=337;ExcessHet=0;FS=1.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.058;SOR=0.852	GT:AD:DP:GQ:PL	0/1:96,61:157:99:1529,0,2600	5	0	1	0
chr16	3247100	3247100	G	A	exonic	MEFV	.	synonymous SNV	MEFV:NM_001198536:exon4:c.C870T:p.R290R,MEFV:NM_000243:exon5:c.C1503T:p.R501R	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	45163	Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|not_specified|Familial_Mediterranean_fever,_autosomal_dominant|Familial_Mediterranean_fever|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.0279553	0.0121	0.0037	0.0030	0.1051	0.0003	0.0036	0.0110	0.0143	0.0118239	1828	154602	rs76464258	0.0066	0.0066	0.0064	0.0068	0.0877	0.0065	0.0065	0.0853	0.0843	0.0035	0.0039	0.0179	0.0877	0.0003	0.0081	0.0029	0.0147	0.0150	0.0087	0.0087	0.0080	0.0093	0.1007	0.0083	0.0081	0.0936	0.0908	0.0043	0.0274	0.0117	0.0173	0.1007	9.416e-05	0.0102	0.0034	0.0147	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.030303	0.006793	0.008772	0.000000	0.000000	0.006098	0.026515	0.08333	1682.83	154	chr16	3247100	.	G	A	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.398;DP=628;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.9;SOR=0.706	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1693,0,2068	5	0	1	0
chr16	3249468	3249468	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.G590A:p.R197Q,MEFV:NM_000243:exon3:c.G1223A:p.R408Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1477	44	1	0	46	0.0153333	.	.	YES	17591	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.0171725	0.0130	0.0042	0.0043	0.0541	0.0153	0.0097	0.0190	0.0144	0.0125354	1938	154602	rs11466024	0.0099	0.0099	0.0097	0.0101	0.0497	0.0098	0.0097	0.0479	0.0472	0.0041	0.0056	0.0301	0.0497	0.0140	0.0133	0.0074	0.0162	0.0152	0.0115	0.0115	0.0106	0.0125	0.0550	0.0111	0.0109	0.0498	0.0477	0.0047	0.0274	0.0157	0.0337	0.0550	0.0121	0.0306	0.0093	0.0166	0.0176	0.235	0.18000	T	0.268	0.24477	T	0.259	0.31472	B	0.045	0.24526	B	0.923697	0.07492	N	1.038830	1	0.08975	N	0.735	0.18861	N	0.95	0.43279	T	-1.02	0.27876	N	0.063	0.03502	-1.0403	0.17223	T	0.013	0.05273	T	9	0.00421834	0.00084	T	.	.	.	0.035	0.08770	.	.	.	.	0.1480056526240582	0.14722	0.143352020997	0.16180	0.187196582556	0.00179	T	0.225157	0.58980	T	-0.593918	0.00159	T	-0.578785	0.14653	T	0.00138981036744195	0.00014	T	0.49475	0.16094	T	0.037591994	0.04850	0.054800026	0.09493	0.038826443	0.05246	0.037714183	0.03484	-8.273	0.63712	D	.	.	0.094	0.15115	B	.;.;.;.	.;.;.;.	0.981175	0.13585	10.12	0.89134234003538337	0.18540	0.03690	0.08964	N	AEFDBI	0.146106	0.26948	N	-1.27601589820716	0.03966	0.178151	-1.34336738140196	0.03884	0.1821227	0.999321037669829	0.39149	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	-2.48	0.06052	-0.571000	0.05979	.	.	-1.081000	0.01566	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.3822:0.0:0.6178	10.011	0.41155	794	0.45591	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.	.	.	.	.	rs11466024	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1105.83	61	chr16	3249468	.	C	T	1105.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.63;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=-0.693;SOR=0.85	GT:AD:DP:GQ:PL	0/1:26,35:61:99:1116,0,618	5	0	1	0
chr16	3249586	3249586	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.C472T:p.P158S,MEFV:NM_000243:exon3:c.C1105T:p.P369S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1479	42	1	0	44	0.0146569	.	.	YES	17590	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	.	0.0056	0.0201677	0.0142	0.0040	0.0047	0.0716	0.0155	0.0097	0.0188	0.0147	0.0137644	2128	154602	rs11466023	0.0103	0.0103	0.0101	0.0105	0.0621	0.0102	0.0101	0.0601	0.0593	0.0041	0.0057	0.0302	0.0621	0.0140	0.0132	0.0074	0.0178	0.0156	0.0122	0.0122	0.0112	0.0133	0.0729	0.0118	0.0116	0.0669	0.0645	0.0046	0.0274	0.0161	0.0337	0.0729	0.0121	0.0306	0.0094	0.0175	0.0180	0.036	0.43393	D	0.08	0.49120	T	0.959	0.55135	D	0.503	0.47728	P	0.001529	0.38731	N	0.118471	1	0.08975	N	1.63	0.41750	L	0.49	0.55775	T	-3.91	0.78553	D	0.137	0.13484	-0.9942	0.31512	T	0.016	0.06569	T	9	0.0018258095	0.00024	T	.	.	.	0.242	0.54781	.	.	.	.	0.2528296790470378	0.25196	0.458817244897	0.45486	0.332307219505	0.15283	T	0.515925	0.82978	D	-0.357339	0.04282	T	-0.219263	0.52807	T	0.0346247206697671	0.02744	T	0.791921	0.43319	T	0.08763667	0.20415	0.13715924	0.32792	0.0876844	0.20428	0.13222286	0.31734	-2.711	0.10820	T	.	.	0.091	0.16800	B	.;.;.;.	.;.;.;.	2.648742	0.34483	19.64	0.99688279629768983	0.79775	0.14461	0.18415	N	AEFBI	0.224295	0.34854	N	-0.418468547163643	0.24821	1.343001	-0.560443380227226	0.20528	1.10644	0.991550087581218	0.32528	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	1.12	0.19700	1.688000	0.37308	.	.	0.676000	0.76740	0.937000	0.32526	0.900000	0.27958	0.949000	0.49496	0.3542:0.0:0.6458:0.0	7.200	0.25053	794	0.45591	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.045455	0.008152	0.026316	0.000000	0.017241	0.006098	0.034091	0.08333	1328.83	95	chr16	3249586	.	G	A	1328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.363;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.57;SOR=0.655	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1339,0,1318	5	0	1	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	637.48	24	chr16	23445969	.	TA	T	637.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.502;DP=197;ExcessHet=6.1542;FS=1.649;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.033;SOR=0.89	GT:AD:DP:GQ:PL	0/1:10,12:24:99:189,0,179	1	0	5	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	1246	176	28	72	0	172	0.328244	.	.	YES	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	75.83	3	chr16	30091839	.	C	A	75.83	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=25.28;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	4	1	0	1
chr16	31111999	31111999	A	T	exonic	BCKDK	.	nonsynonymous SNV	BCKDK:NM_001271926:exon10:c.A976T:p.S326C,BCKDK:NM_001122957:exon11:c.A1066T:p.S356C,BCKDK:NM_005881:exon11:c.A1066T:p.S356C	Branched-chain ketoacid dehydrogenase kinase deficiency	8	1511	3	0	0	3	0.000991736	.	.	.	274071	not_specified|not_provided|Branched-chain_keto_acid_dehydrogenase_kinase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013970,MedGen:C3554078,OMIM:614923,Orphanet:308410	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.426	0.0747116067431	0.0005	0.000199681	0.0008	0.0002	0.0003	0	0	0.0012	0.0022	0.0001	0.0006533	101	154602	rs142542453	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0004	0.0006	0.0004	5.974e-05	0.0003	0.0085	0	0	0.0012	0.0003	0.0007	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0	0	0.0001	0.0069	0	0	0	0.0003	0.0009	0.0002	0.005	0.63226	D	0.027	0.63918	D	0.924	0.51285	P	0.649	0.52426	P	0.000000	0.84330	D	0.037237	0.999993	0.58761	D	2.015	0.55033	M	-1.06	0.76819	T	-2.07	0.47344	N	0.555	0.61849	-0.0735	0.80698	T	0.442	0.77971	T	10	0.011356086	0.00249	T	0.074712	0.72109	D	0.426	0.73372	.	.	0.896479097939	0.89545	0.6884335814607504	0.68783	1.22719861685	0.81235	0.550096213818	0.45871	T	0.67654	0.90456	D	-0.174176	0.24606	T	-0.131591	0.60837	T	0.0534810887414713	0.06101	T	0.80432	0.45191	T	0.25393322	0.48418	0.13844654	0.33064	0.25393322	0.48418	0.13844654	0.33063	-9.428	0.70411	D	.	.	0.114	0.22500	B	.;.;.;.	.;.;.;.	4.091254	0.60938	24.3	0.99057715325789397	0.51413	0.93268	0.57765	D	AEFDBCI	0.925403	0.90489	D	0.531804737097128	0.68982	5.292683	0.582641915179052	0.73694	6.012882	0.99999999998808	0.74766	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.574000	0.73903	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	1.0:0.0:0.0:0.0	14.863	0.70032	52	0.97609	Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1413.83	125	chr16	31111999	.	A	T	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.793;DP=306;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.621;SOR=0.573	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1424,0,1990	5	0	1	0
chr16	46689659	46689659	G	A	UTR5	ORC6	NM_014321:c.-47G>A	.	.	Meier-Gorlin syndrome 3, Autosomal recessive	0	1464	52	6	0	64	0.0213904	.	.	.	255744	Meier-Gorlin_syndrome_3|Meier-Gorlin_syndrome|Parkinson_Disease,_Dominant|not_specified	MONDO:MONDO:0013430,MedGen:C3151113,OMIM:613803,Orphanet:2554|MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690,Orphanet:2554|MedGen:CN239359|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00259585	0.0113	0.0009	0.0113	0	0	0.0182	0.0104	0.0090	0.0033635	520	154602	rs144065502	0.0036	0.0036	0.0034	0.0039	0.0318	0.0035	0.0035	0.0280	0.0266	0.0009	0.0038	0.0317	0	0.0002	0.0318	0.0028	0.0064	0.0072	0.0034	0.0034	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0044	0.0004	0.0417	0.0042	0.0285	0	0.0005	0.0170	0.0037	0.0038	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	874.83	86	chr16	46689659	.	G	A	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.44;DP=257;ExcessHet=0;FS=1.781;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.356;SOR=0.504	GT:AD:DP:GQ:PL	0/1:51,35:86:99:885,0,1233	5	0	1	0
chr16	67660199	67660199	C	T	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon1:c.G22A:p.V8I,ACD:NM_022914:exon1:c.G22A:p.V8I	.	384	1125	12	1	0	14	0.00618375	.	.	.	429837	Dyskeratosis_congenita,_autosomal_dominant_6|not_provided|ACD-related_disorder|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	.	0.0007	0.000998403	0.0008	0.0006	0.0012	0	0	0.0010	0.0059	0.0005	0.000718	111	154602	rs149365469	0.0006	0.0006	0.0005	0.0006	0.0290	0.0005	0.0005	0.0254	0.0240	0.0007	0.0011	0.0020	0	0	0.0290	0.0004	0.0012	0.0008	0.0006	0.0006	0.0006	0.0007	0.0018	0.0005	0.0005	0.0012	0.0011	0.0005	0	0.0018	0.0009	0	0	0.0374	0.0004	0.0028	0.0006	.	.	.	0.031	0.53788	D	0.355	0.33731	B	0.073	0.28123	B	0.053064	0.22840	N	0.313336	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.088	0.16028	-1.0467	0.15332	T	0.045	0.19194	T	10	0.009870857	0.00221	T	.	.	.	0.019	0.03383	.	.	0.146414634003	0.14194	0.09386438995845912	0.09318	0.139486507341	0.15724	0.479659438133	0.36009	T	0.229699	0.59558	T	-0.575093	0.00206	T	-0.649298	0.09002	T	0.0149048827742313	0.00317	T	0.672333	0.28093	T	0.12558973	0.29437	0.1416343	0.33721	0.17041984	0.37615	0.14991881	0.35377	.	.	.	0.3533138073722568	0.45034	0.138	0.35870	B	.;.;.;.;.;.	.;.;.;.;.;.	1.979646	0.25148	16.66	0.98905138345194532	0.48272	0.13423	0.17847	N	ALL	0.101833	0.20442	N	-0.641788692678365	0.17700	0.9130168	-0.68079355440786	0.17441	0.9274243	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.47	0.38831	0.057000	0.14157	2.200000	0.31279	0.599000	0.40250	0.000000	0.06391	0.990000	0.31317	0.185000	0.21450	0.0:0.8751:0.0:0.1249	7.470	0.26514	42	0.97857	.;.;.;.;.;.	.	.	.	.	.	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	0.022155	0.030303	0.013624	0.061404	0.000000	0.043103	0.000000	0.003788	0.08333	984.83	78	chr16	67660199	.	C	T	984.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.241;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.681;SOR=0.728	GT:AD:DP:GQ:PL	0/1:41,37:78:99:995,0,1072	5	0	1	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	256.89	92	chr16	70860121	.	C	T	256.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=365;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.083;MQ=48.44;MQRankSum=-4.603;QD=2.79;ReadPosRankSum=1.52;SOR=0.833	GT:AD:DP:GQ:PL	0/1:72,20:92:99:267,0,2140	5	0	1	0
chr16	88719920	88719920	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon43:c.G6205A:p.V2069M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	428	1083	9	2	0	13	0.00596604	.	.	.	799967	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.184	0.115519472277	0.0011	.	0.0012	0.0009	0	0	0	0.0021	0.0056	0.0004	0.0002135	33	154602	rs199752762	0.0006	0.0006	0.0006	0.0006	0.0077	0.0006	0.0005	0.0059	0.0053	0.0005	0.0011	0.0090	0	0	0.0077	0.0004	0.0013	0.0005	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0007	0.0005	0.0002	0	0.0010	0.0069	0	0	0.0204	0.0005	0.0019	0.0004	0.004	0.65419	D	0.003	0.76473	D	0.919	0.50927	P	0.338	0.42306	B	0.000000	0.84330	D	0.000000	0.998448	0.44926	D	1.32	0.33002	L	1.47	0.31987	T	-2.7	0.57599	D	0.716	0.71854	-0.9889	0.32878	T	0.108	0.39246	T	9	0.0132112205	0.00281	T	0.115519	0.79472	D	0.195	0.47612	.	.	0.110392049598	0.10638	0.5887971450332024	0.58809	.	.	0.84056186676	0.88179	D	0.113814	0.43114	T	-0.333173	0.05874	T	-0.307704	0.43906	T	0.0377087710878733	0.03281	T	0.966803	0.87909	D	0.40434894	0.61032	0.36538547	0.61888	0.40434894	0.61032	0.36538547	0.61888	-7.949	0.60721	D	0.4864108922574664	0.56411	0.388	0.58913	A	.	.	4.393139	0.67818	25.1	0.99714505743944926	0.81563	0.95146	0.63607	D	AEFBCI	0.826402	0.74590	D	0.464592473955914	0.65036	4.77216	0.497333932460259	0.67811	5.134536	0.999999981131242	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	5.884000	0.69473	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	19.888	0.96918	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005760	0.010870	0.006410	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	1455.83	114	chr16	88719920	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.69;SOR=0.698	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1466,0,1442	5	0	1	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	331.06	9	chr16	89816740	.	A	AGGCCTTGCGTCGT	331.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.272;DP=66;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.464;SOR=0.223	GT:AD:DP:GQ:PL	0/1:5,4:9:99:152,0,199	4	0	2	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.08333	1502.83	88	chr17	6425710	.	C	A	1502.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=263;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-2.298;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,54:88:99:1513,0,784	5	0	1	0
chr17	8076313	8076313	C	A	exonic	ALOX12B	.	nonsynonymous SNV	ALOX12B:NM_001139:exon11:c.G1394T:p.G465V	Ichthyosis, congenital, autosomal recessive 2, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	346363	Autosomal_recessive_congenital_ichthyosis_2|ALOX12B-related_disorder|not_provided	MONDO:MONDO:0009439,MedGen:C3888093,OMIM:242100,Orphanet:281122,Orphanet:79394|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.140	0.0219978733821	0.0015	0.000399361	0.0023	0.0001	0.0003	0	0.0089	0.0029	0.0016	0.0014	0.0015071	233	154602	rs145344421	0.0018	0.0018	0.0017	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0002	0.0010	3.838e-05	0	0.0058	0.0010	0.0018	0.0012	0.0015	0.0017	0.0017	0.0012	0.0022	0.0023	0.0015	0.0015	0.0016	0.0014	0.0003	0	0.0022	0	0.0002	0.0072	0	0.0017	0.0024	0.0023	0.227	0.18498	T	0.166	0.30828	T	0.0	0.02946	B	0.001	0.04355	B	0.330521	0.14122	N	0.718377	0.955457	0.37926	D	-0.695	0.01866	N	-1.02	0.76300	T	0.33	0.03889	N	0.239	0.26957	-0.9197	0.45594	T	0.207	0.56594	T	10	0.009960473	0.00223	T	0.021998	0.44841	T	0.140	0.37593	.	.	0.326345978581	0.32251	0.4272927939233823	0.42646	0.668839237153	0.59315	0.323818325996	0.13998	T	0.165078	0.51078	T	-0.472936	0.00815	T	-0.457974	0.26820	T	0.0026816340667359	0.00028	T	0.445455	0.15541	T	0.07315782	0.16327	0.07371624	0.16050	0.05636282	0.11079	0.062819146	0.12350	-5.159	0.38522	T	0.054118530491180206	0.01132	0.117	0.36594	B	.;.;.	.;.;.	1.403559	0.18178	13.59	0.64446285757415955	0.07496	0.19403	0.20647	N	AEFBI	0.123592	0.23926	N	-1.22722874940791	0.04608	0.2083534	-1.10556182644923	0.07593	0.3699596	0.0540776125888672	0.14959	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.2	2.98	0.33575	1.260000	0.32571	4.169000	0.42261	-1.231000	0.01326	0.276000	0.25103	0.997000	0.33255	0.366000	0.26021	0.0:0.1713:0.0:0.8287	7.775	0.28197	354	0.85282	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.	.	.	.	.	.	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	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.08333	541.83	57	chr17	8076313	.	C	A	541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.256;DP=243;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.869;SOR=0.503	GT:AD:DP:GQ:PL	0/1:36,21:57:99:552,0,994	5	0	1	0
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	262.35	2	chr17	17237171	.	C	G	262.35	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=60;QD=32.79;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	3	0	3
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2487.32	26	chr17	18130817	.	A	AGT	2487.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.29;DP=437;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.912;SOR=1.029	GT:AD:DP:GQ:PL	1/0:2,6:26:97:708,582,645	0	0	6	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	17578.6	207	chr17	21300880	.	C	T	17578.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1079;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.484;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,80:207:99:0|1:21300875_G_T:2968,0,5076:21300875	0	0	6	0
chr17	28400676	28400676	T	C	exonic	SLC46A1	.	nonsynonymous SNV	SLC46A1:NM_001242366:exon3:c.A1172G:p.N391S,SLC46A1:NM_080669:exon4:c.A1256G:p.N419S	Folate malabsorption, hereditary, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1335425	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.0153387747541	.	0.000399361	5.923e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs141992236	4.106e-05	4.104e-05	3.813e-05	4.403e-05	0.0013	3.246e-05	2.921e-05	0.0010	0.0008	0.0013	8.956e-05	0	0	0	0	1.799e-06	0.0002	0	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	0	0.0009	0	.	.	.	0.161	0.32568	T	0.323	0.33082	B	0.07	0.27859	B	0.000303	0.45977	D	0.272597	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.286	0.32921	-0.7054	0.60178	T	0.244	0.61260	T	9	0.050952762	0.04904	T	0.015339	0.36015	T	.	.	.	.	0.327952845175	0.32413	0.20926224354443512	0.20842	.	.	0.570219874382	0.48709	T	0.239973	0.60820	T	-0.464861	0.00916	T	-0.48105	0.24336	T	0.101941809058189	0.12569	T	0.933007	0.74900	D	0.061097395	0.12615	0.100340396	0.23989	0.06732459	0.14569	0.106733985	0.25683	-1.607	0.01998	T	0.07602946007041217	0.03438	0.065	0.03336	B	.;.	.;.	2.482169	0.32012	18.91	0.98935502663203589	0.48826	0.96369	0.68801	D	AEFBI	0.607087	0.59718	D	-0.0282701067115175	0.40579	2.412183	0.133738022145887	0.46285	2.877032	0.988628086067373	0.31576	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	4.795000	0.62183	3.516000	0.38871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.1427:0.8573	12.158	0.53390	131	0.94738	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1342.83	106	chr17	28400676	.	T	C	1342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=277;ExcessHet=0;FS=1.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.218;SOR=0.518	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1353,0,1497	5	0	1	0
chr17	63972380	63972380	G	A	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.C364T:p.R122C	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	345423	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|Paramyotonia_congenita_of_Von_Eulenburg|Congenital_myasthenic_syndrome_16|Congenital_myopathy_22B,_severe_fetal|Congenital_myopathy_22A,_classic|not_provided	MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0957265,MedGen:C5830501,OMIM:620369|MONDO:MONDO:0957247,MedGen:C5830453,OMIM:620351|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.852	0.447953414556	.	0.000399361	6.711e-05	0	0	0	0	7.566e-05	0.0023	6.171e-05	6.47e-05	10	154602	rs150158100	7.252e-05	7.251e-05	7.624e-05	6.877e-05	0.0002	6.115e-05	5.7e-05	7.311e-05	6.722e-05	0	2.236e-05	0	0	0	0.0002	8.724e-05	3.313e-05	5.797e-05	5.91e-05	5.906e-05	2.57e-05	9.401e-05	0.0001	3.076e-05	2.209e-05	5.843e-05	4.24e-05	0	0	0	0	0	9.423e-05	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.91	0.64641	D	0.000353	0.45440	D	0.190420	0.999998	0.58761	D	3.17	0.88688	M	-4.28	0.97126	D	-5.17	0.83489	D	0.92	0.92317	1.054	0.98212	D	0.942	0.98109	D	10	0.9682631	0.96357	D	0.447953	0.94288	D	0.852	0.95433	.	.	0.947777257196	0.94723	0.8282844956908092	0.82786	0.678422557014	0.59885	0.577218294144	0.49694	T	0.876698	0.97382	D	0.323743	0.84735	D	0.41894	0.92713	D	0.830595433712006	0.48576	D	0.90061	0.65471	D	0.38445655	0.59636	0.28344378	0.54337	0.61851066	0.73684	0.33415598	0.59243	-9.712	0.72170	D	0.6619485491797727	0.73558	0.3	0.52985	B	.	.	6.189757	0.94758	34	0.99910239866157713	0.97949	0.90619	0.51945	D	AEFGBCI	0.815902	0.73776	D	0.433816102648008	0.63292	4.560091	0.274029765580511	0.54028	3.569	0.999470477167808	0.39898	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	3.24	0.36257	5.721000	0.68126	3.845000	0.40060	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:0.5026:0.4974	10.365	0.43202	789	0.46346	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	2410.83	176	chr17	63972380	.	G	A	2410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.862;DP=379;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.098;SOR=0.568	GT:AD:DP:GQ:PL	0/1:88,88:176:99:2421,0,2273	5	0	1	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	15566.7	108	chr17	80184264	.	G	A	15566.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.451;DP=687;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.55;ReadPosRankSum=0.519;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3723,325,0	0	3	3	0
chr18	45063461	45063461	G	A	exonic	SETBP1	.	synonymous SNV	SETBP1:NM_001379141:exon6:c.G4554A:p.E1518E,SETBP1:NM_001379142:exon6:c.G4554A:p.E1518E,SETBP1:NM_015559:exon6:c.G4554A:p.E1518E	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	41	1471	9	1	0	11	0.00372503	.	.	.	169435	not_specified|Schinzel-Giedion_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0010010,MedGen:C0265227,OMIM:269150,Orphanet:798|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs574196735	0.0006	0.0006	0.0005	0.0006	0.0107	0.0005	0.0005	0.0081	0.0072	0.0002	0.0014	0.0152	0	0	0.0107	0.0002	0.0022	0.0002	0.0007	0.0007	0.0007	0.0008	0.0010	0.0006	0.0006	0.0007	0.0005	2.419e-05	0	0.0010	0.0133	0	0	0.0240	0.0005	0.0048	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.022834	0.018987	0.016340	0.060510	0.050000	0.019608	0.010949	0.000000	0.08333	642.83	42	chr18	45063461	.	G	A	642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.09;DP=209;ExcessHet=0;FS=1.77;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.769;SOR=1.329	GT:AD:DP:GQ:PL	0/1:22,20:42:99:653,0,559	5	0	1	0
chr18	57571588	57571588	A	G	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	1	1374	141	6	0	153	0.0527404	.	.	YES	15601	not_specified|not_provided|Protoporphyria,_erythropoietic,_1|Erythema|Jaundice|Autosomal_erythropoietic_protoporphyria	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|MONDO:MONDO:0019263,MedGen:CN283243,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0374	0.13738	0.1073	0.0201	0.3755	0.3268	0.0951	0.0515	0.0881	0.0903	0.101059	15624	154602	rs2272783	0.0670	0.0671	0.0677	0.0664	0.3864	0.0667	0.0665	0.3813	0.3792	0.0157	0.3229	0.0647	0.3864	0.0905	0.0519	0.0443	0.0663	0.0887	0.0680	0.0682	0.0619	0.0744	0.3371	0.0669	0.0665	0.3239	0.3186	0.0190	0.0011	0.1825	0.0643	0.3371	0.0969	0.0578	0.0461	0.0771	0.0960	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	837.83	62	chr18	57571588	.	A	G	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.21;DP=241;ExcessHet=0;FS=7.51;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.464;SOR=1.681	GT:AD:DP:GQ:PL	0/1:34,28:62:99:848,0,794	5	0	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	964.06	39	chr18	57580222	.	G	A	964.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.659;DP=145;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1;SOR=0.909	GT:AD:DP:GQ:PL	0/1:19,20:39:99:624,0,603	4	0	2	0
chr19	7524989	7524989	C	T	exonic	MCOLN1	.	synonymous SNV	MCOLN1:NM_020533:exon2:c.C60T:p.P20P	Mucolipidosis IV, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	YES	349549	Mucolipidosis_type_IV|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009653,MedGen:C0238286,OMIM:252650,Orphanet:578|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	3.449e-05	0.0002	0	0	0	1.582e-05	0	6.091e-05	3.88e-05	6	154602	rs202247664	2.463e-05	2.531e-05	2.178e-05	2.751e-05	0.0002	1.803e-05	1.6e-05	3.983e-05	2.373e-05	0.0001	0	0	0	1.879e-05	0.0002	2.248e-05	6.625e-05	1.159e-05	9.847e-05	9.842e-05	7.708e-05	0.0001	0.0003	6.001e-05	4.875e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	1022.83	94	chr19	7524989	.	C	T	1022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=276;ExcessHet=0;FS=2.787;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.415;SOR=1.085	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1033,0,1339	5	0	1	0
chr19	7642483	7642483	G	A	exonic	STXBP2	.	synonymous SNV	STXBP2:NM_001127396:exon10:c.G840A:p.E280E,STXBP2:NM_001272034:exon10:c.G882A:p.E294E,STXBP2:NM_006949:exon10:c.G849A:p.E283E	Hemophagocytic lymphohistiocytosis, familial, 5	0	1517	5	0	0	5	0.00164528	.	.	.	257273	not_specified|Familial_hemophagocytic_lymphohistiocytosis|Familial_hemophagocytic_lymphohistiocytosis_5|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0015541,MedGen:C0272199,OMIM:PS267700,Orphanet:158038,Orphanet:540|MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0105	0.0123802	0.0035	0.0319	0.0011	0.0074	0	0.0001	0.0011	0.0007	0.0034734	537	154602	rs34450592	0.0012	0.0012	0.0013	0.0010	0.0331	0.0011	0.0011	0.0315	0.0309	0.0331	0.0018	3.826e-05	0.0052	0	0.0040	5.575e-05	0.0026	0.0005	0.0094	0.0094	0.0094	0.0093	0.0313	0.0090	0.0088	0.0299	0.0293	0.0313	0	0.0031	0	0.0089	0	0	0.0002	0.0085	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.007553	0.000000	0.014946	0.017544	0.000000	0.000000	0.000000	0.000000	0.08333	1507.83	97	chr19	7642483	.	G	A	1507.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=281;ExcessHet=0;FS=1.686;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.942;SOR=0.888	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1518,0,1338	5	0	1	0
chr19	40718299	40718299	G	C	intronic	ITPKC	.	.	.	.	414	862	226	20	0	266	0.133668	.	.	.	19316	Reclassified_-_variant_of_unknown_significance|ITPKC-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0885	0.0858626	0.1244	0.0338	0.1971	0.0711	0.1537	0.1280	0.1286	0.1256	0.110277	17049	154602	rs28493229	0.1280	0.1232	0.1279	0.1281	0.1858	0.1275	0.1273	0.1816	0.1799	0.0275	0.1858	0.1039	0.1200	0.1451	0.1115	0.1299	0.1233	0.1253	0.1023	0.1024	0.1009	0.1038	0.1441	0.1010	0.1004	0.1391	0.1370	0.0322	0.0274	0.1441	0.1144	0.0744	0.1514	0.1156	0.1295	0.0993	0.1182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	17494.5	250	chr19	40718299	.	G	C	17494.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.72;DP=793;ExcessHet=0;FS=1.586;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.03;ReadPosRankSum=-0.887;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,250:250:99:8109,750,0	3	2	1	0
chr19	45352782	45352782	G	A	exonic	ERCC2	.	synonymous SNV	ERCC2:NM_000400:exon20:c.C1866T:p.G622G	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	728270	not_provided|Xeroderma_pigmentosum|Inborn_genetic_diseases|Xeroderma_pigmentosum,_group_D	MedGen:C3661900|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0010	0.000399361	0.0006	0	0.0002	0	0	0.0010	0	0	0.0005175	80	154602	rs16979773	0.0004	0.0004	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	0.0001	0.0004	0.0092	0	1.874e-05	0.0014	0.0003	0.0008	3.478e-05	0.0004	0.0004	0.0005	0.0004	0.0005	0.0003	0.0003	0.0003	0.0002	2.481e-05	0	0.0005	0.0102	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2005.83	139	chr19	45352782	.	G	A	2005.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.653;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.068;SOR=0.66	GT:AD:DP:GQ:PL	0/1:63,76:139:99:2016,0,1619	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	167.84	21	chr19	49157760	.	G	T	167.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=77;ExcessHet=0;FS=7.501;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.545;SOR=2.281	GT:AD:DP:GQ:PL	0/1:15,6:21:99:178,0,377	5	0	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2485.44	35	chr19	57231146	.	G	GC	2485.44	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.567;DP=238;ExcessHet=0;FS=2.655;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.44;ReadPosRankSum=-1.401;SOR=1.221	GT:AD:DP:GQ:PL	0/1:13,22:35:99:595,0,317	3	2	1	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.5833	14975.9	210	chr20	3234173	.	T	G	14975.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.996;DP=911;ExcessHet=0.7136;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-1.471;SOR=0.745	GT:AD:DP:GQ:PL	0/1:104,106:210:99:2521,0,2597	1	2	3	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	768.99	6	chr20	44429378	.	T	C	768.99	.	AC=8;AF=0.8;AN=10;DP=27;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;QD=34.95;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,6:6:18:217,18,0	1	4	0	1
chr20	46056217	46056217	G	A	exonic	SLC12A5	.	nonsynonymous SNV	SLC12A5:NM_001134771:exon22:c.G2924A:p.R975H,SLC12A5:NM_020708:exon22:c.G2855A:p.R952H	Epileptic encephalopathy, early infantile, 34, Autosomal recessive	424	1074	23	1	0	25	0.0115048	.	.	.	215104	SLC12A5-related_disorder|not_provided|Epilepsy,_idiopathic_generalized,_susceptibility_to,_14|Developmental_and_epileptic_encephalopathy,_34	.|MedGen:C3661900|MONDO:MONDO:0014734,MedGen:C4225245,OMIM:616685|MONDO:MONDO:0014718,MedGen:C4225257,OMIM:616645,Orphanet:293181	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.666	.	0.0005	0.00359425	0.0034	0.0004	0.0010	0.0002	0.0002	0.0012	0.0033	0.0186	0.0029819	461	154602	rs142740233	0.0022	0.0022	0.0015	0.0028	0.0190	0.0021	0.0021	0.0182	0.0179	0.0003	0.0005	0.0099	0.0001	0.0001	0.0045	0.0010	0.0022	0.0190	0.0013	0.0013	0.0014	0.0013	0.0145	0.0012	0.0011	0.0118	0.0108	0.0002	0	0.0005	0.0092	0.0006	0	0	0.0012	0.0009	0.0145	0.057	0.37966	T	0.144	0.33109	T	0.001	0.09854	B	0.001	0.06944	B	0.007119	0.31595	N	0.269330	0.644884	0.32910	D	-0.205	0.04094	N	0.83	0.47815	T	-1.32	0.32991	N	0.735	0.73555	-0.9958	0.31082	T	0.106	0.38661	T	10	0.007701069	0.00175	T	.	.	.	0.666	0.87576	.	.	0.36413608308	0.36018	0.6965851662878576	0.69599	0.205256797494	0.22944	0.435112118721	0.29908	T	0.300205	0.67271	T	-0.530051	0.00384	T	-0.519221	0.20372	T	0.0103095291409408	0.00141	T	0.848715	0.53056	T	0.070505686	0.15535	0.07315132	0.15865	0.07981876	0.18256	0.0678229	0.14081	-6.487	0.50186	T	.	.	0.068	0.03093	B	.;.	.;.	3.354920	0.46288	22.3	0.97801804319768593	0.36071	0.72452	0.35462	D	AEFDGBHCI	0.340412	0.43724	N	-0.411326066420493	0.25072	1.358304	-0.312489712344542	0.27695	1.538611	0.732868416677542	0.23079	0.549168	0.22868	0	0.547309	0.14657	0	0.61531	0.40942	0	0.616125	0.45549	0	.	.	4.8	3.86	0.43689	2.973000	0.48956	8.636000	0.77873	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1711:0.0:0.8289:0.0	8.706	0.33518	862	0.33134	SLC12A transporter, C-terminal;.	.	.	.	.	.	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	0.005544	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	1541.83	123	chr20	46056217	.	G	A	1541.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=298;ExcessHet=0;FS=1.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-2.133;SOR=0.832	GT:AD:DP:GQ:PL	0/1:66,57:123:99:1552,0,1615	5	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.08333	969.83	78	chr22	37723190	.	G	A	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.35;DP=256;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.015;SOR=1.284	GT:AD:DP:GQ:PL	0/1:43,35:78:99:980,0,1038	5	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M	.	418	622	397	85	0	567	0.313087	.	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.25	4385.03	115	chr22	43928847	.	C	G	4385.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.88;DP=415;ExcessHet=1.383;FS=5.549;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.182;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,49:115:99:0|1:43928847_C_G:1820,0,2606:43928847	3	0	3	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.3333	6331.96	137	chr22	43946236	.	A	G	6331.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.004;DP=579;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.8;SOR=0.684	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1664,0,1942	2	0	4	0
chrX	48527198	48527198	C	T	exonic	EBP	.	synonymous SNV	EBP:NM_006579:exon4:c.C382T:p.L128L	Chondrodysplasia punctata, X-linked dominant, X-linked dominant;MEND syndrome, X-linked recessive	0	1520	1	1	0	3	0.000985869	.	.	YES	170129	not_specified|not_provided|Chondrodysplasia_punctata_2_X-linked_dominant	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020603,MedGen:C0282102,OMIM:302960,Orphanet:35173	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0027	0.00476821	0.0018	0.0076	0.0032	0	0	0.0014	0.0032	0	0.0016688	258	154602	rs142881014	0.0011	0.0011	0.0011	0.0012	0.0072	0.0011	0.0011	0.0064	0.0060	0.0072	0.0039	0.0081	0	0	0.0056	0.0007	0.0036	5.541e-05	0.0028	0.0029	0.0028	0.0027	0.0065	0.0026	0.0025	0.0058	0.0055	0.0065	0	0.0041	0.0064	0	0	0.0139	0.0008	0.0059	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.012422	0.068027	0.009276	0.003953	0.000000	0.000000	0.008850	0.000000	0.08333	3340.83	224	chrX	48527198	.	C	T	3340.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.544;DP=394;ExcessHet=0;FS=3.753;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.045;SOR=0.62	GT:AD:DP:GQ:PL	0/1:98,126:224:99:3351,0,2575	5	0	1	0
chrX	71240964	71240964	G	A	exonic	ZMYM3	.	synonymous SNV	ZMYM3:NM_001171162:exon25:c.C4029T:p.R1343R,ZMYM3:NM_005096:exon25:c.C4065T:p.R1355R,ZMYM3:NM_201599:exon25:c.C4065T:p.R1355R	.	9	1489	20	4	0	28	0.0093147	.	.	.	102555	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0008	0	0.0004	0	0.0002	0.0014	0.0016	0.0002	0.0009056	140	154602	rs142437272	0.0013	0.0013	0.0014	0.0011	0.0070	0.0012	0.0012	0.0050	0.0043	7.575e-05	0.0006	0.0029	0	2.468e-05	0.0070	0.0014	0.0016	0.0005	0.0010	0.0010	0.0011	0.0007	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0012	0.0042	0	0	0.0138	0.0014	0.0026	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.002751	0.000000	0.000000	0.003953	0.000000	0.011765	0.004425	0.005263	0.08333	1884.83	151	chrX	71240964	.	G	A	1884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.216;DP=327;ExcessHet=0;FS=1.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.316;SOR=0.828	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1895,0,1775	5	0	1	0
chrX	137566825	137566825	-	CGC	exonic	ZIC3	.	nonframeshift insertion	ZIC3:NM_001330661:exon1:c.134_135insCGC:p.A55_F56insA,ZIC3:NM_003413:exon1:c.134_135insCGC:p.A55_F56insA	Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive;Heterotaxy, visceral, 1, X-linked, X-linked recessive;VACTERL association, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	257760	not_specified|not_provided|Heterotaxy,_visceral,_1,_X-linked|ZIC3-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010607,MedGen:C1844020,OMIM:306955,Orphanet:450|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0	0	0	0.0011	0	0.0016	0.0001537	4	26028	rs756241691	0.0043	0.0042	0.0049	0.0030	0.0051	0.0042	0.0041	0.0049	0.0049	0.0009	0.0008	0	0.0003	0.0011	0.0020	0.0051	0.0031	0.0018	0.0025	0.0025	0.0028	0.0017	0.0042	0.0022	0.0021	0.0037	0.0036	0.0010	0	0.0006	0	0	0.0012	0.0046	0.0042	0.0026	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1579.01	36	chrX	137566825	.	A	ACGC	1579.01	.	AC=2;AF=0.167;AN=12;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.07;SOR=1.061	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1599,108,0	5	1	0	0