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	NSWES351	WT	HH	HZ	NC
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9229.92	37	chr1	37708311	.	TTTC	T	9229.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.455;DP=557;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.673;SOR=0.676	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1900,0,1910	2	0	4	0
chr1	42750259	42750259	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon11:c.G1647A:p.M549I,P3H1:NM_001243246:exon11:c.G1647A:p.M549I,P3H1:NM_022356:exon11:c.G1647A:p.M549I	Osteogenesis imperfecta, type VIII, Autosomal recessive	0	1349	159	14	0	187	0.064818	.	.	.	365254	not_specified|Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive	MedGen:CN169374|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	.	0.0623	0.057508	0.0719	0.0267	0.0355	0.0424	0.0858	0.0810	0.0648	0.0991	0.0700832	10835	154602	rs11581921	0.0779	0.0779	0.0772	0.0786	0.0905	0.0775	0.0774	0.0888	0.0881	0.0223	0.0398	0.0271	0.0383	0.0773	0.0454	0.0835	0.0687	0.0905	0.0602	0.0604	0.0601	0.0603	0.0944	0.0592	0.0587	0.0873	0.0844	0.0253	0.0647	0.0576	0.0259	0.0431	0.0785	0.0374	0.0797	0.0659	0.0944	0.404	0.15354	T	0.447	0.13066	T	0.008	0.15535	B	0.01	0.14941	B	0.000622	0.42799	N	0.244651	0.886722	0.27954	N	-0.805	0.01590	N	1.09	0.39223	T	0.64	0.02368	N	0.142	0.14196	-1.1055	0.03486	T	0.003	0.00961	T	10	0.0016106963	0.00019	T	.	.	.	0.028	0.06331	0.364	0.37036	.	.	0.5434565235910352	0.54271	0.209664287682	0.23441	0.454124242067	0.32508	T	0.049955	0.28457	T	-0.578798	0.00196	T	-0.532112	0.19077	T	0.00892420019926719	0.00111	T	0.791621	0.44736	T	0.07865807	0.17925	0.05993935	0.11332	0.06477003	0.13774	0.051074196	0.08146	-3.685	0.21553	T	0.0868220304280723	0.05036	0.294	0.63214	B	.;.;.	.;.;.	2.559118	0.33143	19.25	0.96467838080981627	0.29925	0.79879	0.39672	D	AEFBI	0.305921	0.41321	N	-0.340966266133552	0.27605	1.515937	-0.154244508031221	0.33246	1.899718	0.966672844025438	0.28921	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	4.22	0.49153	0.662000	0.24721	2.736000	0.34426	0.537000	0.25018	0.998000	0.41325	1.000000	0.68203	0.963000	0.52385	0.0:0.8093:0.0:0.1907	7.634	0.27424	507	0.75469	.;.;Prolyl 4-hydroxylase, alpha subunit	C1orf50|RP5-994D16.9|RP5-994D16.9|RP5-994D16.9|P3H1|PPIH	Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Spleen|Testis	P3H1|P3H1|P3H1|P3H1|P3H1	Adipose_Visceral_Omentum|Esophagus_Muscularis|Lung|Nerve_Tibial|Whole_Blood	rs11581921	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.047883	0.020408	0.043597	0.038012	0.100000	0.043103	0.051829	0.090909	0.08333	884.83	42	chr1	42750259	.	C	T	884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.006;DP=255;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.11;SOR=0.869	GT:AD:DP:GQ:PL	0/1:39,36:75:99:895,0,989	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	1/1:0,153:153:99:4751,459,0	0	6	0	0
chr1	94010911	94010911	T	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon40:c.A5603T:p.N1868I	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1394	119	9	0	137	0.0468376	.	.	YES	105279	Age_related_macular_degeneration_2|Retinal_dystrophy|Stargardt_disease|Cone-rod_dystrophy_3|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|Macular_degeneration|Retinitis_pigmentosa|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|Cone-Rod_Dystrophy,_Recessive|not_provided|not_specified	MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239167|MedGen:CN239312|MedGen:CN239466|MedGen:CN239309|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.402	.	0.0477	0.0207668	0.0446	0.0105	0.0248	0	0.0411	0.0657	0.0420	0.0192	0.045394	7018	154602	rs1801466	0.0574	0.0574	0.0583	0.0565	0.0674	0.0571	0.0569	0.0670	0.0668	0.0086	0.0224	0.0319	5.038e-05	0.0402	0.0447	0.0674	0.0465	0.0190	0.0404	0.0403	0.0427	0.0380	0.0663	0.0395	0.0392	0.0647	0.0641	0.0112	0.0581	0.0261	0.0340	0	0.0406	0.0544	0.0663	0.0347	0.0160	0.001	0.78490	D	0.011	0.69154	D	0.459	0.36338	P	0.175	0.35598	B	0.002461	0.36537	N	0.321128	0.999788	0.81001	D	2.415	0.69758	M	-2.88	0.91533	D	-4.91	0.81595	D	0.209	0.51672	0.661	0.92685	D	0.728	0.90701	D	10	0.0069182813	0.00157	T	.	.	.	0.402	0.71558	.	.	.	.	0.7971400618589359	0.79667	0.412325355486	0.41975	0.317802816629	0.13088	T	0.671782	0.93558	D	-0.266919	0.12103	T	-0.103538	0.63123	T	0.0502051629063343	0.05536	T	0.887111	0.61484	D	0.74764305	0.80732	0.70142317	0.82406	0.7912946	0.83356	0.7233697	0.83664	-9.325	0.69763	D	.	.	0.216	0.45433	B	.;.	.;.	2.915032	0.38680	20.8	0.9199950111978572	0.21334	0.97269	0.73696	D	AEFBI	0.603337	0.59485	D	0.0262651168874368	0.43051	2.605779	-0.0309068510218861	0.38327	2.256456	0.999999997282578	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.563428	0.18855	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	3.423000	0.52517	2.833000	0.35033	0.609000	0.47794	0.992000	0.37556	0.996000	0.32793	0.175000	0.21139	0.0:0.0:0.0:1.0	14.708	0.68820	398	0.82839	.;.	TMED5	Testis	.	.	.	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	0.039315	0.020202	0.035326	0.038012	0.050000	0.051724	0.070552	0.026515	0.08333	2031.83	37	chr1	94010911	.	T	A	2031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.558;DP=364;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.019;SOR=0.881	GT:AD:DP:GQ:PL	0/1:55,85:140:99:2042,0,1278	5	0	1	0
chr1	154869723	154869723	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ	.	384	237	23	45	833	946	0.192504	.	.	.	390549	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1054	0.0996	0.0511	0.0192	0.0319	0.0749	0.0517	0.1534	0.0001153	3	26028	rs3831942	0.1186	0.1275	0.1184	0.1189	0.2071	0.1181	0.1179	0.2028	0.2010	0.2071	0.0673	0.1121	0.0183	0.1391	0.1365	0.1193	0.1125	0.1368	0.1340	0.1347	0.1330	0.1351	0.2092	0.1324	0.1317	0.2053	0.2038	0.2092	0.0747	0.0816	0.1011	0.0113	0.1367	0.1809	0.1127	0.1263	0.1329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6994.2	46	chr1	154869723	.	G	GGCTGCTGCT	6994.2	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.921;DP=304;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=28;ReadPosRankSum=-0.294;SOR=0.717	GT:AD:DP:GQ:PL	1/0:0,19:28:99:1461,386,306	4	0	2	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	642.83	35	chr1	158618068	.	G	A	642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.02;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:653,0,547	5	0	1	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.08333	1290.83	42	chr1	158627717	.	G	C	1290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.679;DP=270;ExcessHet=0;FS=0.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.23;SOR=0.536	GT:AD:DP:GQ:PL	0/1:36,53:89:99:1301,0,858	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	0/1:15,13:30:99:497,0,583	3	1	2	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1745.11	22	chr1	161214269	.	C	CTG	1745.11	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.692;DP=193;ExcessHet=6.1542;FS=4.229;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=0.423;SOR=0.2	GT:AD:DP:GQ:PL	0/1:11,11:22:99:281,0,284	4	0	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	0/1:22,27:53:99:1085,0,986	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	1/0:1,6:24:99:491,381,550	1	0	5	0
chr1	168293285	168293286	GT	-	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277317	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0377	0.0268	0.0126	0.0235	0.0352	0.0408	0.0556	0.0454	0.0008452	22	26028	rs1491467073	0.0637	0.0759	0.0644	0.0631	0.0672	0.0634	0.0632	0.0668	0.0666	0.0363	0.0407	0.0675	0.0484	0.1057	0.0393	0.0672	0.0625	0.0262	0.0406	0.0408	0.0392	0.0422	0.0618	0.0397	0.0393	0.0593	0.0583	0.0618	0.0162	0.0364	0.0110	0.0296	0.0550	0.0270	0.0338	0.0418	0.0217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3299.33	42	chr1	168293284	.	AGT	A	3299.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.256;DP=397;ExcessHet=0.1336;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.75;ReadPosRankSum=0;SOR=0.879	GT:AD:DP:GQ:PL	0/1:1,13:24:99:491,138,199	5	0	1	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	0/1:45,49:94:99:1231,0,986	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	0/1:91,54:145:99:1338,0,2372	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	0/1:24,28:52:99:718,0,580	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	0/1:69,55:124:99:1348,0,1700	1	1	4	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2068.06	33	chr1	196743447	.	T	C	2068.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.361;DP=467;ExcessHet=0.4139;FS=1.118;MLEAC=2;MLEAF=0.167;MQ=57.64;MQRankSum=-11.31;QD=6.34;ReadPosRankSum=-2.096;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,42:170:99:.:.:1314,0,5205:.	4	0	2	0
chr1	201047218	201047218	T	C	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon38:c.A4565G:p.K1522R	Hypokalemic periodic paralysis, type 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1883413	Hypokalemic_periodic_paralysis,_type_1|Malignant_hyperthermia,_susceptibility_to,_5|not_provided	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.838	0.100838529506	.	.	9.063e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs763242241	3.215e-05	3.215e-05	1.497e-05	4.95e-05	0.0005	2.478e-05	2.22e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0	2.698e-06	4.967e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.087615	0.999983	0.54805	D	2.05	0.56469	M	-3.28	0.93691	D	-2.79	0.59059	D	0.781	0.77789	0.958	0.96517	D	0.879	0.95979	D	10	0.7276459	0.74081	D	0.100839	0.77336	D	0.838	0.94914	0.676	0.81398	0.946230323446	0.94566	0.7378603442488704	0.73731	0.481987173226	0.47167	0.753767728806	0.75002	T	0.095516	0.85839	T	0.0716689	0.61052	D	0.181327	0.82069	D	0.704487502574921	0.40933	D	0.950005	0.80823	D	0.9330398	0.94542	0.8856247	0.93957	0.9330398	0.94542	0.8856247	0.93957	-13.343	0.90727	D	0.6932864312922904	0.77130	0.463	0.62864	A	.;.	.;.	5.255758	0.88249	29.5	0.99905462899083231	0.97651	0.98177	0.80270	D	AEFGBI	0.929301	0.91485	D	0.766695333961177	0.83987	8.163737	0.725903102116991	0.84346	8.266315	0.999992696715675	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	7.667000	0.82852	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.109	0.72014	900	0.24599	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ domain;Voltage-dependent calcium channel, alpha-1 subunit, IQ domain|Voltage-dependent calcium channel, alpha-1 subunit, IQ 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	.	.	.	.	.	.	.	.	0.08333	1336.83	36	chr1	201047218	.	T	C	1336.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.807;DP=283;ExcessHet=0;FS=6.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.591;SOR=0.735	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1347,0,1142	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	1/1:0,71:71:99:2472,213,0	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	0/1:26,23:49:99:672,0,698	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	0/1:26,17:43:99:636,0,1033	1	2	3	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	424.72	17	chr1	237833281	.	G	GA	424.72	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.14;DP=110;ExcessHet=1.383;FS=3.074;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.36;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,3:12:43:.:.:43,0,201:.	4	0	2	0
chr1	241500602	241500602	-	GAGAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	280161	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|Fumarase_deficiency|not_provided	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026126	68	26028	rs144131869	0.0473	0.0531	0.0477	0.0469	0.0945	0.0470	0.0469	0.0917	0.0905	0.0945	0.0380	0.0556	0.0627	0.0399	0.0389	0.0453	0.0514	0.0514	0.0772	0.0824	0.0768	0.0777	0.1283	0.0760	0.0755	0.1252	0.1239	0.1283	0.0719	0.0701	0.0939	0.0863	0.0590	0.0296	0.0532	0.0619	0.0564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2014.52	45	chr1	241500602	.	T	TGAGAGAGA	2014.52	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	0/1:4,5:9:99:197,0,135	4	0	1	1
chr2	43819997	43819997	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon11:c.A1567G:p.I523V	Sitosterolemia, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	494188	ABCG5-related_disorder|Sitosterolemia_1|Cardiovascular_phenotype|Sitosterolemia|not_provided|not_specified	.|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	0.0347197100427	0.0018	0.000399361	0.0017	0.0006	0.0003	0	0.0065	0.0020	0.0055	0.0009	0.0016623	257	154602	rs140899003	0.0019	0.0019	0.0019	0.0019	0.0020	0.0018	0.0018	0.0020	0.0019	0.0007	0.0003	0	2.519e-05	0.0056	0.0009	0.0020	0.0017	0.0009	0.0018	0.0018	0.0018	0.0018	0.0024	0.0016	0.0016	0.0021	0.0020	0.0009	0	0.0002	0	0	0.0064	0	0.0024	0	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.406145	0.04564	N	1.318130	1	0.08975	N	-0.64	0.02118	N	-0.57	0.71307	T	-0.12	0.08809	N	0.016	0.00203	-1.0460	0.15534	T	0.092	0.35228	T	10	0.011789948	0.00256	T	0.03472	0.55864	D	0.036	0.09122	.	.	0.388010793773	0.38412	0.3166676916906652	0.31579	0.0597340386739	0.06639	0.323835611343	0.14001	T	0.254714	0.62541	T	-0.592306	0.00162	T	-0.627887	0.10576	T	0.0029333322053172	0.00031	T	0.615039	0.23503	T	0.087925084	0.20493	0.04810037	0.07073	0.14205359	0.32707	0.047568806	0.06879	-3.241	0.12988	T	.	.	0.061	0.01126	B	.;.	.;.	-0.175130	0.03221	0.537	0.19121318880610083	0.00631	0.04139	0.09622	N	AEFBI	0.182952	0.31027	N	-1.42977902297355	0.02381	0.1050568	-1.39006962966123	0.03357	0.1564242	1.79854495195864E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.79	-2.43	0.06145	0.337000	0.19582	-0.870000	0.07107	-0.133000	0.13014	0.031000	0.20493	0.000000	0.08366	0.281000	0.24041	0.1329:0.3059:0.12:0.4411	1.990	0.03235	663	0.61610	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	692.83	34	chr2	43819997	.	T	C	692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=253;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.677;SOR=1.071	GT:AD:DP:GQ:PL	0/1:38,29:67:99:703,0,911	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	0/1:70,45:115:99:1158,0,1891	1	1	4	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	0/1:10,17:29:99:353,0,184	2	0	4	0
chr2	71570627	71570627	G	A	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon28:c.G3018A:p.P1006P,DYSF:NM_001130977:exon28:c.G3018A:p.P1006P,DYSF:NM_001130984:exon28:c.G3021A:p.P1007P,DYSF:NM_001130986:exon28:c.G3021A:p.P1007P,DYSF:NM_001130455:exon29:c.G3063A:p.P1021P,DYSF:NM_001130978:exon29:c.G3060A:p.P1020P,DYSF:NM_001130980:exon29:c.G3111A:p.P1037P,DYSF:NM_001130981:exon29:c.G3111A:p.P1037P,DYSF:NM_001130983:exon29:c.G3063A:p.P1021P,DYSF:NM_001130985:exon29:c.G3114A:p.P1038P,DYSF:NM_001130987:exon29:c.G3114A:p.P1038P,DYSF:NM_003494:exon29:c.G3060A:p.P1020P,DYSF:NM_001130979:exon30:c.G3153A:p.P1051P,DYSF:NM_001130982:exon30:c.G3156A:p.P1052P	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	.	.	YES	100199	Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|Qualitative_or_quantitative_defects_of_dysferlin|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0	0	3.072e-05	0	0.0013	0.0001876	29	154602	rs398123778	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0.0002	2.237e-05	0	2.519e-05	0	0.0002	8.903e-05	9.937e-05	0.0017	0.0001	0.0001	7.708e-05	0.0002	0.0025	7.572e-05	6.277e-05	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	5.88e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1118.83	81	chr2	71570627	.	G	A	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.729;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.846;SOR=0.592	GT:AD:DP:GQ:PL	0/1:29,44:73:99:1129,0,612	5	0	1	0
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	103	1312	92	15	0	122	0.0444283	.	.	.	283664	Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	148.02	4	chr2	113133033	.	C	T	148.02	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.638;DP=35;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.105;SOR=0.527	GT:AD:DP:GQ:PL	0/1:3,7:10:97:158,0,97	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	1/0:4,12:36:99:657,295,288	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	0/1:4,20:36:99:657,138,197	2	0	4	0
chr2	158680478	158680478	A	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon21:c.A3251T:p.D1084V,PKP4:NM_001377225:exon21:c.A3251T:p.D1084V,PKP4:NM_001377226:exon21:c.A3248T:p.D1083V,PKP4:NM_001304969:exon22:c.A3377T:p.D1126V,PKP4:NM_001304970:exon22:c.A2351T:p.D784V,PKP4:NM_001377218:exon22:c.A3380T:p.D1127V,PKP4:NM_001377219:exon22:c.A3377T:p.D1126V,PKP4:NM_001377222:exon22:c.A3374T:p.D1125V,PKP4:NM_001377223:exon22:c.A3374T:p.D1125V,PKP4:NM_001377224:exon22:c.A3371T:p.D1124V,PKP4:NM_003628:exon22:c.A3380T:p.D1127V,PKP4:NM_001377220:exon23:c.A3377T:p.D1126V,PKP4:NM_001377221:exon23:c.A3377T:p.D1126V	.	455	1052	11	4	0	19	0.0089496	.	.	.	719333	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.646	0.106998707454	0.0036	0.00159744	0.0032	0.0005	0.0013	0	0.0003	0.0053	0	0.0010	0.0033311	515	154602	rs148782148	0.0043	0.0043	0.0044	0.0042	0.0057	0.0042	0.0042	0.0050	0.0049	0.0008	0.0025	0.0033	0	0.0011	0.0057	0.0051	0.0039	0.0010	0.0033	0.0033	0.0032	0.0035	0.0059	0.0031	0.0030	0.0050	0.0046	0.0008	0.0318	0.0059	0.0017	0	0.0005	0.0408	0.0047	0.0024	0.0004	0.001	0.78490	D	0.006	0.70582	D	0.999	0.90584	D	0.952	0.71741	D	0.027796	0.25702	N	0.416960	1	0.81001	D	1.59	0.40313	L	-1.1	0.77336	T	-2.49	0.60665	N	0.83	0.82559	-0.0623	0.80944	T	0.387	0.74246	T	10	0.009985596	0.00224	T	0.106999	0.78287	D	0.646	0.86586	.	.	0.93031684865	0.92960	0.7301227855729024	0.72957	0.845700684657	0.68286	0.654403448105	0.60611	T	0.207492	0.83003	T	0.0278741	0.55439	T	0.27057	0.86605	D	0.0291081936171927	0.01854	T	0.986301	0.95349	D	0.30877057	0.53680	0.3825057	0.63235	0.30877057	0.53680	0.3825057	0.63235	-6.845	0.52893	T	.	.	0.672	0.74816	P	.;.;.	.;.;.	4.566385	0.72000	25.8	0.99465783778614858	0.66049	0.99041	0.90363	D	AEFGBI	0.924285	0.90208	D	0.656005042019324	0.76759	6.545936	0.700162305018979	0.82392	7.755	0.999999484586198	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	8.867000	0.91934	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.889	0.79069	851	0.35303	.;.;.	.	.	.	.	.	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	0.010081	0.020408	0.006793	0.000000	0.000000	0.017241	0.018293	0.003788	0.08333	1428.83	33	chr2	158680478	.	A	T	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.979;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.837;SOR=0.737	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1439,0,2013	5	0	1	0
chr2	169193813	169193813	G	A	exonic	LRP2	.	synonymous SNV	LRP2:NM_004525:exon47:c.C8778T:p.D2926D	Donnai-Barrow syndrome, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	282678	not_provided|Donnai-Barrow_syndrome	MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	9.061e-05	0	0	0.0002	0.0003	8.99e-05	0	6.056e-05	9.06e-05	14	154602	rs199845695	2.668e-05	2.736e-05	3.267e-05	2.063e-05	0.0001	1.997e-05	1.754e-05	4.907e-05	3.165e-05	0	0	0	0.0001	0.0001	0	1.978e-05	3.312e-05	3.478e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.432e-05	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	2630.83	34	chr2	169193813	.	G	A	2630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=392;ExcessHet=0;FS=6.542;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.35;SOR=0.594	GT:AD:DP:GQ:PL	0/1:105,109:214:99:2641,0,2281	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	0/1:0,8:11:18:329,51,18	2	0	4	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7757.87	35	chr2	174750180	.	CA	C	7757.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.346;DP=394;ExcessHet=0;FS=7.689;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.5;ReadPosRankSum=0.473;SOR=2.142	GT:AD:DP:GQ:PL	0/1:1,21:55:99:1267,589,461	4	0	2	0
chr2	178537539	178537539	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72473A:p.R24158H,TTN:NM_133432:exon184:c.G72848A:p.R24283H,TTN:NM_133437:exon184:c.G73049A:p.R24350H,TTN:NM_133378:exon304:c.G91964A:p.R30655H,TTN:NM_001256850:exon305:c.G94745A:p.R31582H,TTN:NM_001267550:exon355:c.G99668A:p.R33223H	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	.	.	.	.	.	.	.	.	.	.	56782	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.465	0.0496650999619	8.4e-05	.	7.49e-05	0.0002	0	0.0008	0	0	0	0	5.82e-05	9	154602	rs369081242	4.037e-05	4.036e-05	5.038e-05	3.026e-05	0.0003	3.179e-05	2.911e-05	0.0002	0.0001	0.0003	6.711e-05	0	5.041e-05	0	0	2.878e-05	0.0002	2.319e-05	7.884e-05	7.875e-05	7.712e-05	8.063e-05	0.0003	4.496e-05	3.512e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0	0.029	0.45756	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	-0.26	0.67187	T	-3.62	0.70920	D	0.437	0.68429	-0.1778	0.78236	T	0.443	0.78008	T	9	0.20046318	0.36094	T	0.049665	0.63910	D	0.465	0.76089	.	.	0.445811967706	0.44203	.	.	0.516134083605	0.49506	0.606586694717	0.53834	T	.	.	.	-0.222043	0.17715	T	-0.200349	0.54614	T	0.222239719542583	0.21575	T	0.967203	0.88094	D	.	.	.	.	.	.	.	.	-4.914	0.35892	T	.	.	0.291	0.52285	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.592552	0.50700	23.0	0.94683432080247365	0.25320	0.98525	0.83712	D	AEFBI	0.926771	0.90840	D	0.80803291286198	0.86608	8.939585	0.828646489481749	0.91708	11.02671	1.0	0.98316	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.664235	0.64389	0	.	.	5.89	5.89	0.94758	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.256	0.98423	384	0.83545	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1298.83	37	chr2	178537539	.	C	T	1298.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.846;DP=264;ExcessHet=0;FS=1.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.06;SOR=0.826	GT:AD:DP:GQ:PL	0/1:39,48:87:99:1309,0,980	5	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2726.03	34	chr2	233681881	.	T	G	2726.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.206;DP=333;ExcessHet=1.383;FS=2.637;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.06;SOR=0.927	GT:AD:DP:GQ:PL	0/1:41,34:75:99:805,0,1111	3	0	3	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	1175	190	33	124	0	281	0.425113	.	.	YES	27327	not_provided|UGT1A8-related_condition|Gilbert_syndrome|Gilbert_syndrome,_susceptibility_to|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1|UGT1A9-related_disorder	MedGen:C3661900|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C4016425|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.588059	.	.	.	.	.	.	.	.	0.483095	12574	26028	rs4124874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5551	0.5558	0.5568	0.5533	0.8203	0.5519	0.5506	0.8129	0.8099	0.8203	0.4823	0.4853	0.5378	0.3271	0.4919	0.5000	0.4377	0.5124	0.5886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	112.69	1	chr2	233757013	.	T	G	112.69	.	AC=3;AF=0.75;AN=4;BaseQRankSum=-0.967;DP=7;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0	0	1	1	4
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	510.93	21	chr2	233760233	.	C	CAT	510.93	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.614;DP=121;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.157;SOR=1.085	GT:AD:DP:GQ:PL	0/1:9,8:17:99:249,0,270	3	0	3	0
chr2	237347797	237347797	G	A	intronic	COL6A3	.	.	.	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	286080	not_specified|Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MedGen:CN169374|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0004	0.0008	0.0001	0	0	0.0001	0	0.0014	0.0002135	33	154602	rs376525317	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	0.0004	9.093e-05	0.0009	0.0001	0	0.0009	5.231e-05	9.97e-05	0.0009	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	0.0006	0	0	0.0006	0.0002	0	0	7.35e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	615.83	34	chr2	237347797	.	G	A	615.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.282;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.703;SOR=0.602	GT:AD:DP:GQ:PL	0/1:23,24:47:99:626,0,584	5	0	1	0
chr2	240757423	240757423	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2702_2703insGGA:p.E900_D901insE,KIF1A:NM_001379633:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379642:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379645:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001244008:exon27:c.2753_2754insGGA:p.E917_D918insE,KIF1A:NM_001379631:exon27:c.2828_2829insGGA:p.E942_D943insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	488454	not_provided|not_specified|KIF1A-related_disorder|KIF1A_related_neurological_disorder	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0700055,MedGen:CN312623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0130	0.0164	0.0246	0.0066	0.0087	0.0135	0.0122	0.0129	0.0005379	14	26028	rs758125020	0.0169	0.0158	0.0169	0.0168	0.0213	0.0167	0.0166	0.0200	0.0194	0.0213	0.0117	0.0105	0.0015	0.0162	0.0188	0.0176	0.0157	0.0168	0.0178	0.0170	0.0184	0.0171	0.0199	0.0172	0.0170	0.0187	0.0183	0.0199	0	0.0119	0.0163	0.0017	0.0186	0.0110	0.0193	0.0121	0.0179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	11080.5	75	chr2	240757423	.	A	ATCC	11080.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.509;DP=667;ExcessHet=3.1439;FS=2.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.32;ReadPosRankSum=1.51;SOR=0.905	GT:AD:DP:GQ:PL	0/1:44,24:68:99:781,0,1681	5	0	1	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1125.92	36	chr3	15521729	.	T	TTG	1125.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.078;DP=145;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.049;SOR=0.641	GT:AD:DP:GQ:PL	0/1:11,7:18:99:203,0,340	2	0	4	0
chr3	43549834	43549834	C	G	exonic	ANO10	.	synonymous SNV	ANO10:NM_001204833:exon9:c.G1350C:p.T450T,ANO10:NM_001204832:exon10:c.G1485C:p.T495T,ANO10:NM_001204834:exon10:c.G1113C:p.T371T,ANO10:NM_001346466:exon10:c.G1485C:p.T495T,ANO10:NM_001346469:exon10:c.G1485C:p.T495T,ANO10:NM_001204831:exon11:c.G1683C:p.T561T,ANO10:NM_001346465:exon11:c.G1683C:p.T561T,ANO10:NM_001346468:exon11:c.G1683C:p.T561T,ANO10:NM_018075:exon11:c.G1683C:p.T561T,ANO10:NM_001346463:exon12:c.G1800C:p.T600T,ANO10:NM_001346464:exon12:c.G1800C:p.T600T,ANO10:NM_001346467:exon12:c.G1800C:p.T600T	Spinocerebellar ataxia, autosomal recessive 10, Autosomal recessive	2	1507	13	0	0	13	0.00429468	.	.	.	294457	not_provided|Autosomal_recessive_spinocerebellar_ataxia_10	MedGen:C3661900|MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	0.0012	0.00139776	0.0036	0.0003	0.0006	0	0.0116	0.0043	0.0022	0.0035	0.0033893	524	154602	rs141040660	0.0026	0.0026	0.0026	0.0027	0.0033	0.0026	0.0025	0.0030	0.0029	0.0003	0.0008	0.0012	0	0.0112	0.0029	0.0025	0.0024	0.0033	0.0025	0.0025	0.0021	0.0029	0.0046	0.0023	0.0022	0.0031	0.0026	0.0004	0	0.0007	0.0032	0	0.0103	0.0034	0.0030	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005035	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.018939	0.08333	1190.83	35	chr3	43549834	.	C	G	1190.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.222;DP=262;ExcessHet=0;FS=0.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.015;SOR=0.9	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1201,0,688	5	0	1	0
chr3	46370444	46370444	A	G	ncRNA_intronic	CCR5AS	.	.	.	.	1383	82	5	52	0	109	0.399267	.	.	YES	23228	Susceptibility_to_HIV_infection|CCR5_PROMOTER_POLYMORPHISM|Acquired_immunodeficiency_syndrome,_delayed_progression_to|CCR5-related_disorder	MONDO:MONDO:0004951,MedGen:C1836230,OMIM:609423|.|MedGen:C4016730|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	.	.	.	0.548522	.	.	.	.	.	.	.	.	0.47349	12324	26028	rs1799987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4914	0.4919	0.4870	0.4959	0.6116	0.4884	0.4872	0.5932	0.5857	0.5707	0.4659	0.4602	0.4439	0.5883	0.4602	0.5685	0.4413	0.4920	0.6116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	90.38	.	chr3	46370444	.	A	G	90.38	.	AC=4;AF=1;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=22.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	2	0	4
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1260.83	38	chr3	46858411	.	C	T	1260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.843;DP=292;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.536;SOR=0.968	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1271,0,1350	5	0	1	0
chr3	129531049	129531049	T	C	intronic	RHO	.	.	.	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	1	1519	2	0	0	2	0.000657895	0.0001	0.064	.	413644	Retinal_dystrophy|not_provided	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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.492e-05	0	0	0	0	4.535e-05	0	0	1.94e-05	3	154602	rs759637818	1.78e-05	1.779e-05	1.499e-05	2.064e-05	0.0005	1.238e-05	1.052e-05	0.0001	7.568e-05	0	0	0	0	0	0.0005	1.079e-05	0.0002	1.159e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	378.83	34	chr3	129531049	.	T	C	378.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.385;DP=220;ExcessHet=0;FS=2.724;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-0.501;SOR=0.357	GT:AD:DP:GQ:PL	0/1:29,17:46:99:389,0,773	5	0	1	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	289084	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10684.6	34	chr3	149141200	.	C	CTTTT	10684.6	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.965;DP=1591;ExcessHet=6.1542;FS=6.101;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.02;SOR=1.099	GT:AD:DP:GQ:PL	0/1:134,32:219:99:1921,0,5595	4	0	2	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	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	0/1:14,11:25:99:236,0,300	1	1	4	0
chr3	185192984	185192984	C	T	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.G1126A:p.V376I,EHHADH:NM_001966:exon7:c.G1414A:p.V472I	.	.	.	.	.	.	.	.	.	.	.	584826	not_specified|EHHADH-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.339	0.0117326521973	0.0002	0.000199681	0.0001	9.625e-05	0	0.0001	0	7.493e-05	0	0.0004	0.0001035	16	154602	rs138187022	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0006	0	0	0.0012	1.872e-05	0.0005	0.0001	6.623e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0	6.538e-05	0	0.0004	0	0	0.0001	0	0	0.009	0.57480	D	0.087	0.40747	T	0.991	0.64070	D	0.696	0.54017	P	0.000003	0.62929	D	0.060524	0.987856	0.40661	D	1.625	0.41611	L	-1.16	0.78082	T	-0.08	0.08187	N	0.232	0.29544	-0.0709	0.80760	T	0.477	0.79971	T	10	0.15416059	0.29085	T	0.011733	0.29644	T	0.339	0.66106	.	.	0.45349784317	0.44971	0.4450167487452453	0.44419	0.353594807961	0.37155	0.401955962181	0.25341	T	0.200003	0.55745	T	-0.227924	0.16923	T	-0.207689	0.53915	T	0.0367794597645217	0.03118	T	0.964304	0.86758	D	0.103788204	0.24531	0.09484508	0.22467	0.103788204	0.24531	0.09484508	0.22466	-6.62	0.53807	T	0.4061130640625613	0.49718	0.119	0.24599	B	.;.	.;.	3.555306	0.49998	22.9	0.99780814250822381	0.86780	0.95065	0.63310	D	AEFBI	0.661896	0.63195	D	0.557239246128965	0.70522	5.514159	0.582698630936299	0.73698	6.013556	0.999454180936676	0.39788	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	2.851000	0.48001	5.773000	0.49755	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.855000	0.40485	0.0:0.8643:0.1357:0.0	15.742	0.77670	670	0.60992	3-hydroxyacyl-CoA dehydrogenase, NAD binding;.	.	.	.	.	.	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	2189.83	33	chr3	185192984	.	C	T	2189.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.62;DP=421;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.56;SOR=0.761	GT:AD:DP:GQ:PL	0/1:85,79:164:99:2200,0,2035	5	0	1	0
chr4	670068	670068	C	T	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001350155:exon18:c.C1306T:p.R436W,PDE6B:NM_001350154:exon20:c.C1624T:p.R542W	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	299205	Retinitis_pigmentosa|not_provided|Congenital_stationary_night_blindness_autosomal_dominant_2	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0118	0.00379393	0.0115	0.0035	0.0023	0	0.0227	0.0164	0.0133	0.0051	0.0115005	1778	154602	rs61733857	0.0143	0.0143	0.0144	0.0141	0.0159	0.0141	0.0140	0.0157	0.0156	0.0022	0.0040	0.0123	2.519e-05	0.0250	0.0078	0.0159	0.0125	0.0053	0.0108	0.0109	0.0106	0.0110	0.0162	0.0104	0.0102	0.0154	0.0150	0.0033	0.0033	0.0052	0.0167	0.0002	0.0223	0.0034	0.0162	0.0071	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.008621	0.012195	0.007576	0.25	1904.0	34	chr4	670068	.	C	T	1904.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.671;DP=243;ExcessHet=0;FS=3.414;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.64;ReadPosRankSum=-0.151;SOR=0.363	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1397,138,0	4	1	1	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	1/1:0,237:237:99:7367,711,0	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	1/1:0,149:149:99:4872,447,0	0	3	3	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	1/1:0,130:130:99:4338,390,0	0	4	2	0
chr4	95129947	95129947	G	A	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon7:c.G671A:p.R224H,BMPR1B:NM_001256793:exon7:c.G761A:p.R254H,BMPR1B:NM_001256794:exon7:c.G671A:p.R224H,BMPR1B:NM_001203:exon9:c.G671A:p.R224H	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	299982	BMPR1B-related_disorder|Acromesomelic_dysplasia_3|Type_A2_brachydactyly|not_provided|Brachydactyly	.|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441|Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.523	0.0639030800321	0.0008	0.000599042	0.0011	0.0005	0.0003	0.0003	0.0015	0.0016	0	0.0003	0.0009638	149	154602	rs35973133	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0003	0.0002	0.0016	0.0002	0.0008	0.0005	0.0008	0.0007	0.0004	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0003	0.0014	0.0004	0.0007	0	0.0013	0	0.0006	0.036	0.44358	D	0.242	0.34241	T	0.416	0.35222	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.56	0.39490	L	-3.23	0.93414	D	-4.37	0.77308	D	0.744	0.85027	0.300	0.87557	D	0.710	0.90032	D	10	0.084184706	0.14083	T	0.063903	0.69112	D	0.523	0.79765	.	.	0.922724566945	0.92193	0.6915159658757071	0.69091	0.302866738118	0.32613	0.81956243515	0.84961	D	0.783911	0.94320	D	0.0302997	0.55764	T	0.264271	0.86296	D	0.0510502388134741	0.05684	T	0.80292	0.44963	T	0.29100126	0.52086	0.44137716	0.67423	0.41382685	0.61679	0.4285253	0.66563	-9.281	0.69732	D	.	.	0.766	0.75767	P	.;.;.;.;.	.;.;.;.;.	5.259087	0.88304	29.5	0.99807747905466526	0.89174	0.97074	0.72538	D	AEFGBHCIJ	0.915435	0.88023	D	0.376162852939217	0.60132	4.198973	0.538904422784041	0.70631	5.533387	1.0	0.98316	0.50284	0.20314	0	0.573888	0.26702	0	0.618467	0.43123	0	0.654926	0.60358	0	.	.	5.9	5.9	0.94952	10.003000	0.99689	11.892000	0.99120	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.336	0.98737	565	0.70868	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase 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	.	.	.	.	.	.	.	.	0.08333	705.83	34	chr4	95129947	.	G	A	705.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.5;DP=244;ExcessHet=0;FS=0.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.052;SOR=0.841	GT:AD:DP:GQ:PL	0/1:29,31:60:99:716,0,690	5	0	1	0
chr5	37183228	37183228	T	C	exonic	CPLANE1	.	synonymous SNV	CPLANE1:NM_001384732:exon26:c.A4953G:p.V1651V,CPLANE1:NM_023073:exon26:c.A4953G:p.V1651V	.	0	1513	9	0	0	9	0.0029654	.	.	.	709906	not_provided|Joubert_syndrome_17|CPLANE1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	0	0	0	0.0002	0.0002	0.0011	0.0005	0.0001746	27	154602	rs373122844	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	0	0	0	0	0	0.0024	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	6.713e-05	0.0002	8.163e-05	6.72e-05	0.0001	0.0001	0	0	0	0	0	9.416e-05	0.0068	0.0002	0	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	0.003525	0.000000	0.004076	0.008772	0.000000	0.008621	0.003049	0.000000	0.08333	1701.83	34	chr5	37183228	.	T	C	1701.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=306;ExcessHet=0;FS=5.233;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.056;SOR=0.565	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1712,0,1723	5	0	1	0
chr5	37226756	37226756	T	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon12:c.A1839C:p.K613N,CPLANE1:NM_023073:exon12:c.A1839C:p.K613N	.	9	1512	1	0	0	1	0.000330579	.	.	.	264270	Joubert_syndrome_17|Orofaciodigital_syndrome_type_6|not_specified|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.480	0.189315097722	.	0.000399361	4.723e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs533310477	6.615e-05	6.499e-05	5.67e-05	7.589e-05	0.0103	5.495e-05	5.093e-05	0.0082	0.0074	9.662e-05	0.0001	0	0	0	0.0103	1.581e-05	0.0001	1.293e-05	7.221e-05	7.217e-05	5.139e-05	9.397e-05	7.351e-05	3.968e-05	3.125e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0136	7.351e-05	0.0009	0	0.007	0.59928	D	0.017	0.60337	D	.	.	.	.	.	.	0.007455	0.31390	U	0.269718	1	0.81001	D	.	.	.	-5.05	0.98611	D	-2.32	0.51478	N	0.167	0.20262	0.931	0.96120	D	0.943	0.98119	D	10	0.09267226	0.16338	T	0.189315	0.86055	D	0.480	0.77077	0.435	0.48664	0.651281849334	0.64838	0.09473945657239558	0.09405	0.202201291181	0.22641	.	.	.	0.038421	0.24832	T	-0.145554	0.29010	T	-0.177555	0.56748	T	0.241197556257248	0.22475	T	0.574643	0.20620	T	0.18983264	0.40542	0.15193936	0.35768	0.18983264	0.40542	0.15193936	0.35768	-3.447	0.15697	T	0.5699935962261324	0.63722	0.203	0.42735	B	.;.	.;.	2.528626	0.32689	19.12	0.99775170740127506	0.86260	0.72603	0.35531	D	AEFGBCI	0.239636	0.36156	N	0.176771883269741	0.50086	3.201991	0.0688169945198818	0.42992	2.610201	0.302255793433614	0.19201	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.26	1.51	0.22094	0.107000	0.15212	-0.071000	0.12298	0.609000	0.47794	0.995000	0.38783	0.880000	0.27694	0.928000	0.46473	0.1335:0.2206:0.0:0.6458	4.427	0.10935	153	0.93993	.;.	.	.	.	.	.	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	1405.83	34	chr5	37226756	.	T	G	1405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.745;SOR=0.808	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1416,0,1168	5	0	1	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1833.85	32	chr5	38528849	.	GAC	G	1833.85	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=224;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.119;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,20:20:60:653,60,0	2	2	2	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.8333	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	1/1:0,81:81:99:2323,243,0	0	4	2	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.1667	2506.04	38	chr5	177093242	.	G	A	2506.04	.	AC=2;AF=0.167;AN=12;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.55;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2526,231,0	5	1	0	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	735.69	28	chr6	15593088	.	G	GA	735.69	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.097;DP=202;ExcessHet=2.3007;FS=0.709;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.042;SOR=0.801	GT:AD:DP:GQ:PL	1/1:3,22:25:27:503,27,0	5	1	0	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	1/1:0,8:8:24:340,24,0	2	3	0	1
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	300.46	12	chr6	107876670	.	C	CAA	300.46	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.414;DP=131;ExcessHet=3.1439;FS=1.28;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.325;SOR=1.136	GT:AD:DP:GQ:PL	0/1:5,3:8:51:51,0,115	4	0	2	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	440.25	11	chr6	131847856	.	G	GGT	440.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.139;DP=115;ExcessHet=2.3007;FS=8.694;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0;SOR=2.03	GT:AD:DP:GQ:PL	0/1:0,4:8:82:174,82,95	3	0	3	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	892.86	19	chr6	152391580	.	G	GAAAAAAA	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	0/1:0,4:5:16:252,36,16	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	1/1:0,49:49:99:1691,147,0	2	1	3	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	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|1:0,95:95:99:1|1:21867834_G_GT:4272,286,0:21867834	0	5	1	0
chr7	74053320	74053320	-	TG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311577	Cutis_laxa,_autosomal_dominant|Supravalvar_aortic_stenosis|not_provided	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0594	0.0498	0.0290	0.0302	0.0243	0.0603	0.0760	0.0877	0.0354717	5484	154602	rs782441301	0.1125	0.1242	0.1127	0.1123	0.1405	0.1120	0.1119	0.1310	0.1272	0.0989	0.0798	0.1274	0.0588	0.0845	0.1405	0.1174	0.1164	0.1034	0.1344	0.1344	0.1380	0.1307	0.1514	0.1328	0.1322	0.1489	0.1479	0.1220	0.1678	0.1130	0.1702	0.0939	0.1013	0.2057	0.1514	0.1436	0.1330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10577.4	80	chr7	74053320	.	C	CTG	10577.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.23;DP=741;ExcessHet=0.4139;FS=0.879;MLEAC=3;MLEAF=0.25;MQ=59.95;MQRankSum=0;QD=25.37;ReadPosRankSum=0.864;SOR=0.535	GT:AD:DP:GQ:PL	0/1:6,20:65:99:1636,1182,1289	3	0	3	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	1/1:0,38:41:42:1061,117,0	0	3	3	0
chr7	103561701	103561701	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon36:c.G5360A:p.R1787Q,RELN:NM_173054:exon36:c.G5360A:p.R1787Q	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	991867	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.202	0.0171510248389	.	.	4.133e-05	0	0	0	0	3.005e-05	0	0.0002	3.23e-05	5	154602	rs372887562	3.558e-05	3.557e-05	2.587e-05	4.538e-05	0.0005	2.763e-05	2.502e-05	0.0003	0.0003	2.988e-05	2.238e-05	3.827e-05	2.521e-05	0	0	7.195e-06	1.656e-05	0.0005	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	9.429e-05	0	1.471e-05	0	0	0.227	0.18498	T	0.132	0.34477	T	0.998	0.73220	D	0.963	0.70837	D	0.000001	0.84330	D	0.055160	0.998545	0.45064	D	-0.4	0.02994	N	2.73	0.11839	T	-0.79	0.21860	N	0.462	0.52386	-1.0636	0.10878	T	0.055	0.23375	T	10	0.33844578	0.50949	T	0.017151	0.38730	T	0.202	0.48754	0.444	0.50139	0.451230547186	0.44747	0.3560523682695205	0.35519	0.740407204184	0.63230	0.477631121874	0.35731	T	0.059062	0.31014	T	-0.373927	0.03400	T	-0.478705	0.24583	T	0.226812764900873	0.21799	T	0.884712	0.60854	D	0.19714502	0.41568	0.20930566	0.45269	0.19714502	0.41568	0.20930566	0.45268	-3.823	0.21149	T	0.11026185065582604	0.09299	0.091	0.13080	B	.;.;.	.;.;.	4.098068	0.61082	24.3	0.99941530789399236	0.99797	0.96294	0.68438	D	AEFBI	0.704541	0.66022	D	0.477462838738036	0.65777	4.865245	0.56648780603224	0.72554	5.82791	0.984288560987437	0.30693	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	4.414000	0.59555	4.097000	0.41842	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	20.191	0.98231	897	0.25382	EGF-like domain;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1415.83	34	chr7	103561701	.	C	T	1415.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.26;DP=297;ExcessHet=0;FS=0.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.188;SOR=0.603	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1426,0,1774	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	0/1:22,15:37:99:552,0,880	0	4	2	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.03	33	chr7	114663436	.	A	AT	515.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.193;DP=241;ExcessHet=0.4139;FS=3.784;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.42;ReadPosRankSum=-0.45;SOR=1.117	GT:AD:DP:GQ:PL	0/1:31,11:42:99:182,0,723	4	0	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	1/1:0,96:96:99:3156,288,0	0	4	2	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	0/1:40,22:62:99:162,0,737	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|1:199,25:224:99:0|1:142749506_A_G:427,0,8277:142749506	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	0/1:64,30:94:99:.:.:1011,0,1823:.	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|1:90,20:110:99:0|1:142750672_T_A:556,0,3699:142750672	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|1:89,18:107:99:0|1:142750672_T_A:488,0,3619:142750672	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	0/1:66,9:75:99:.:.:180,0,1777:.	3	0	3	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	0/1:142,74:216:99:2564,0,4024	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|1:164,20:184:99:0|1:142752947_A_G:346,0,6787:142752947	4	0	2	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	31653.5	162	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	31653.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.793;DP=1372;ExcessHet=0.095;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.72;MQRankSum=-0.094;QD=34.87;ReadPosRankSum=0.687;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,255:256:99:.:.:11076,694,0:.	4	1	1	0
chr8	11757066	11757066	A	G	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon5:c.A511G:p.S171G,GATA4:NM_001374274:exon5:c.A385G:p.S129G,GATA4:NM_001308093:exon6:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	0	1197	296	29	0	354	0.128821	.	.	.	53501	not_specified|Atrioventricular_septal_defect_4|Cardiovascular_phenotype|Neonatal_insulin-dependent_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	.	0.1006	0.0429313	0.0962	0.0204	0.0407	0.0006	0.1405	0.1354	0.1247	0.0556	0.0944554	14603	154602	rs3729856	0.1117	0.1118	0.1118	0.1117	0.1376	0.1113	0.1111	0.1296	0.1265	0.0198	0.0459	0.1768	0.0002	0.1454	0.1376	0.1224	0.1075	0.0564	0.0885	0.0886	0.0902	0.0868	0.1342	0.0873	0.0868	0.1319	0.1310	0.0210	0.0956	0.0528	0.1842	0.0013	0.1405	0.1054	0.1342	0.0874	0.0487	0.417	0.09927	T	0.466	0.13912	T	0.0	0.02946	B	0.0	0.01387	B	0.051149	0.23008	N	0.470389	0.40175	0.32515	P	-0.205	0.04094	N	-5.31	0.98979	D	-0.39	0.13611	N	0.081	0.10198	-0.3951	0.72181	T	0.047	0.20037	T	9	0.0017141104	0.00021	T	.	.	.	0.291	0.61040	.	.	.	.	0.3989938689426625	0.39814	0.159432105992	0.17994	0.260318040848	0.04929	T	0.240558	0.71923	T	-0.414397	0.01859	T	-0.225751	0.52182	T	0.00155459552687909	0.00016	T	.	.	.	0.044084683	0.06984	0.037932515	0.03553	0.048713792	0.08535	0.042145498	0.04952	-3.894	0.22212	T	.	.	0.064	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.088956	0.04932	1.505	0.97243726085723836	0.33010	0.52098	0.29051	D	AEFDBCI	0.397443	0.47351	N	-0.696719188306403	0.16115	0.8181989	-0.578649529712743	0.20049	1.078522	0.999947408581666	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.83	0.906	0.18444	0.363000	0.20037	.	.	-1.227000	0.01331	0.799000	0.29708	0.007000	0.19602	0.104000	0.18471	0.4155:0.1484:0.3085:0.1276	1.707	0.02711	940	0.13648	.;.;.;.;.	NEIL2|FDFT1|NEIL2|FDFT1|NEIL2|NEIL2|NEIL2|BLK|RP11-148O21.6|RP11-148O21.3|RP11-148O21.4|RP11-148O21.2|NEIL2|NEIL2|NEIL2|FDFT1|FDFT1|NEIL2|FDFT1|CTSB|NEIL2|NEIL2|NEIL2|SUB1P1|NEIL2|NEIL2|TDH|FAM167A	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Whole_Blood	FDFT1|FDFT1|NEIL2	Heart_Atrial_Appendage|Lung|Skin_Sun_Exposed_Lower_leg	rs3729856	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.133199	0.126263	0.138965	0.184211	0.100000	0.172414	0.134146	0.075758	0.08333	533.83	33	chr8	11757066	.	A	G	533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=217;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.182;SOR=0.81	GT:AD:DP:GQ:PL	0/1:23,22:45:99:544,0,514	5	0	1	0
chr8	41704368	41704368	C	T	intronic	ANK1	.	.	.	Spherocytosis, type 1, Autosomal dominant	1	1502	19	0	0	19	0.00628515	0.0001	0.004	.	253127	not_provided|not_specified|Hereditary_spherocytosis_type_1|Spherocytosis	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822|Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.000399361	0.0012	0.0003	0.0013	0	0	0.0015	0	0.0013	0.0010737	166	154602	rs200761553	0.0007	0.0007	0.0006	0.0008	0.0073	0.0007	0.0007	0.0056	0.0050	0.0002	0.0007	0.0004	2.519e-05	1.872e-05	0.0073	0.0007	0.0009	0.0015	0.0007	0.0007	0.0006	0.0007	0.0011	0.0006	0.0005	0.0009	0.0009	4.811e-05	0.0011	0.0007	0.0006	0	0.0002	0	0.0011	0	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	.	.	.	.	.	.	.	.	0.08333	391.83	33	chr8	41704368	.	C	T	391.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=220;ExcessHet=0;FS=2.65;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-1.885;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,17:45:99:402,0,655	5	0	1	0
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E,MCM4:NM_182746:exon5:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	314607	Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency|not_provided	MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-terminal 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	0.004532	0.000000	0.005435	0.000000	0.050000	0.008621	0.009146	0.007576	0.08333	781.83	33	chr8	47962392	.	A	G	781.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=237;ExcessHet=0;FS=1.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0;SOR=1.027	GT:AD:DP:GQ:PL	0/1:30,30:60:99:792,0,735	5	0	1	0
chr8	95269027	95269027	C	T	ncRNA_intronic	C8orf37-AS1	.	.	.	.	1	1506	14	1	0	16	0.00528402	0.0008	0.002	.	779562	Cone-rod_dystrophy_16|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0002	0	0.0003	0	0	0.0001	0.0033	0.0004	0.0001423	22	154602	rs377262548	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0006	0.0005	0	0	0	0.0036	0.0001	0.0004	0.0002	0.0001	0.0001	0.0002	9.414e-05	0.0003	9.744e-05	8.258e-05	0.0001	9.898e-05	0	0	0.0003	0	0	0	0	0.0002	0.0019	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	1006.83	35	chr8	95269027	.	C	T	1006.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.236;DP=267;ExcessHet=0;FS=3.005;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.968;SOR=0.416	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1017,0,1070	5	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	379.37	12	chr8	132480670	.	A	AC	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	1/1:0,6:6:18:.:.:163,18,0:.	5	1	0	0
chr8	142917776	142917776	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G65A:p.R22Q	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1654991	not_specified|not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.108152280726	7.7e-05	0.000399361	0.0002	0	8.646e-05	0	0	0.0001	0.0011	0.0007	0.0001488	23	154602	rs200559721	8.483e-05	8.482e-05	7.759e-05	9.213e-05	0.0003	7.209e-05	6.796e-05	0.0002	0.0002	0	4.472e-05	0.0004	2.519e-05	0	0	6.475e-05	0.0002	0.0003	5.251e-05	5.249e-05	6.422e-05	4.026e-05	0.0004	2.555e-05	1.828e-05	7.296e-05	3.031e-05	4.809e-05	0	0	0	0	0	0	5.879e-05	0	0.0004	0.205	0.20002	T	0.139	0.33666	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-0.86	0.74477	T	-0.93	0.24898	N	0.107	0.09207	-0.9526	0.40520	T	0.224	0.58818	T	9	0.03333193	0.01506	T	0.108152	0.78456	D	0.119	0.33137	.	.	0.534620942121	0.53112	0.3405581504927841	0.33968	0.264381924964	0.28988	0.523433029652	0.42109	T	0.186415	0.53970	T	-0.403266	0.02204	T	-0.467609	0.25774	T	0.0193289380663056	0.00638	T	0.672833	0.28129	T	0.03064894	0.02764	0.05480187	0.09493	0.03064894	0.02763	0.05480187	0.09493	-5.667	0.43399	T	.	.	0.084	0.09530	B	.	.	0.918778	0.12937	9.444	0.95385842083683514	0.26818	0.01012	0.03817	N	AEFDBI	0.040788	0.06114	N	-1.25815061001114	0.04194	0.1887897	-1.33778116363578	0.03952	0.1854133	8.91282890064773E-5	0.04703	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-0.747	0.10532	-0.285000	0.08444	-0.972000	0.06742	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4827:0.0:0.5173	6.473	0.21220	986	0.02773	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1853.83	39	chr8	142917776	.	C	T	1853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.21;DP=492;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.675;SOR=0.642	GT:AD:DP:GQ:PL	0/1:98,72:170:99:1864,0,2357	5	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	4643.59	42	chr9	2622146	.	ACGGCGGCGG	A	4643.59	.	AC=7;AF=0.583;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	1/0:0,8:14:99:565,238,311	1	2	3	0
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4643.59	42	chr9	2622146	.	A	ACGG	4643.59	.	AC=3;AF=0.25;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=28.48;SOR=0.869	GT:AD:DP:GQ:PL	0/1:0,6:14:99:565,330,312	3	0	3	0
chr9	14737471	14737471	T	C	exonic	FREM1	.	synonymous SNV	FREM1:NM_001177704:exon14:c.A2073G:p.Q691Q,FREM1:NM_001370061:exon14:c.A2073G:p.Q691Q,FREM1:NM_001379081:exon37:c.A6465G:p.Q2155Q,FREM1:NM_144966:exon38:c.A6465G:p.Q2155Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	312107	Oculotrichoanal_syndrome|not_provided	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003752	58	154602	rs368790874	0.0004	0.0004	0.0004	0.0005	0.0047	0.0004	0.0004	0.0033	0.0028	0.0002	0.0006	0.0036	0	9.365e-05	0.0047	0.0004	0.0007	0.0003	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	4.812e-05	0	0.0005	0.0026	0	0	0	0.0005	0.0014	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	0.002518	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1251.83	33	chr9	14737471	.	T	C	1251.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.239;DP=286;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.57;SOR=0.889	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1262,0,1325	5	0	1	0
chr9	110734288	110734288	T	C	exonic	MUSK	.	synonymous SNV	MUSK:NM_001166281:exon6:c.T666C:p.N222N,MUSK:NM_005592:exon6:c.T666C:p.N222N,MUSK:NM_001166280:exon7:c.T696C:p.N232N	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	253271	Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|not_specified|not_provided	MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0026	0.000399361	0.0022	0	0.0005	0	0.0038	0.0034	0.0011	0.0005	0.0022057	341	154602	rs56044404	0.0029	0.0029	0.0029	0.0030	0.0035	0.0029	0.0028	0.0034	0.0034	0.0004	0.0006	0.0002	0	0.0040	0	0.0035	0.0019	0.0006	0.0020	0.0020	0.0023	0.0016	0.0035	0.0018	0.0017	0.0031	0.0030	0.0005	0	0.0003	0	0	0.0031	0	0.0035	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	1323.83	34	chr9	110734288	.	T	C	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.688;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.956;SOR=0.756	GT:AD:DP:GQ:PL	0/1:72,56:128:99:1334,0,1936	5	0	1	0
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.08333	1009.83	35	chr9	114504573	.	T	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.072;DP=286;ExcessHet=0;FS=3.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-1.445;SOR=0.858	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1020,0,1035	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	0/1:6,18:33:80:475,80,106	3	0	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.75	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	0/1:51,31:82:99:631,0,1278	0	3	3	0
chr9	133570351	133570351	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2436T:p.R812R,ADAMTSL2:NM_014694:exon17:c.C2436T:p.R812R	Geleophysic dysplasia 1, Autosomal recessive	3	1357	159	3	0	165	0.0573116	.	.	.	317129	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064423	996	154602	rs61733946	0.1006	0.0983	0.1027	0.0984	0.1183	0.1001	0.0999	0.1177	0.1175	0.0162	0.0540	0.0723	0.0004	0.0362	0.0778	0.1183	0.0881	0.0160	0.0710	0.0710	0.0762	0.0655	0.1170	0.0699	0.0694	0.1149	0.1140	0.0223	0.0286	0.0685	0.0669	0.0008	0.0318	0.0952	0.1170	0.0776	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	986.06	30	chr9	133570351	.	C	T	986.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.041;DP=228;ExcessHet=0.4139;FS=4.213;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.22;SOR=0.44	GT:AD:DP:GQ:PL	0/1:33,14:47:99:292,0,846	4	0	2	0
chr9	133570435	133570435	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2520T:p.A840A,ADAMTSL2:NM_014694:exon17:c.C2520T:p.A840A	Geleophysic dysplasia 1, Autosomal recessive	0	1450	72	0	0	72	0.0242261	.	.	.	311652	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010414	161	154602	rs368922820	0.0135	0.0135	0.0136	0.0135	0.0515	0.0134	0.0133	0.0467	0.0448	0.0028	0.0108	0.0308	0.0003	0.0020	0.0515	0.0149	0.0154	0.0056	0.0103	0.0103	0.0109	0.0098	0.0159	0.0099	0.0097	0.0151	0.0148	0.0031	0.0099	0.0110	0.0268	0.0004	0.0012	0.0340	0.0159	0.0156	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1667	1815.06	34	chr9	133570435	.	C	T	1815.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.824;DP=289;ExcessHet=0.4139;FS=3.977;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.372;SOR=1.012	GT:AD:DP:GQ:PL	0/1:44,34:78:99:765,0,1124	4	0	2	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	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	0/1:4,3:7:63:63,0,92	0	4	2	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.75	3832.68	30	chr10	23193706	.	T	C	3832.68	.	AC=9;AF=0.75;AN=12;BaseQRankSum=3.38;DP=162;ExcessHet=0;FS=2.793;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=29.94;ReadPosRankSum=1.8;SOR=1.354	GT:AD:DP:GQ:PL	1/1:0,28:28:84:978,84,0	1	4	1	0
chr10	49664976	49664976	C	T	exonic	CHAT	.	nonsynonymous SNV	CHAT:NM_001142929:exon15:c.C1823T:p.P608L,CHAT:NM_020549:exon15:c.C2177T:p.P726L,CHAT:NM_020984:exon15:c.C1823T:p.P608L,CHAT:NM_020986:exon15:c.C1823T:p.P608L,CHAT:NM_001142933:exon16:c.C1931T:p.P644L,CHAT:NM_001142934:exon16:c.C1823T:p.P608L,CHAT:NM_020985:exon16:c.C1823T:p.P608L	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	359962	not_specified|Familial_infantile_myasthenia|not_provided|CHAT-related_disorder	MedGen:CN169374|MONDO:MONDO:0009689,MedGen:C0393929,OMIM:254210,Orphanet:590|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0471522918698	0.0012	0.000199681	0.0011	0	0.0002	0	0.0018	0.0017	0.0011	0.0008	0.0010673	165	154602	rs79414242	0.0011	0.0011	0.0011	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0002	0.0001	3.826e-05	0	0.0026	0.0003	0.0012	0.0008	0.0011	0.0012	0.0012	0.0012	0.0013	0.0022	0.0011	0.0010	0.0019	0.0018	9.622e-05	0	0.0001	0	0	0.0026	0	0.0022	0	0.0008	0.102	0.33585	T	0.328	0.25748	T	0.001	0.07471	B	0.0	0.01387	B	0.740211	0.06423	N	1.148380	1	0.08975	N	1.125	0.28843	L	-1.84	0.84341	D	-1.45	0.35597	N	0.116	0.10911	-0.7959	0.55386	T	0.322	0.69134	T	10	0.01008305	0.00226	T	0.047152	0.62792	D	0.187	0.46274	.	.	0.569101917167	0.56574	0.17111539016934874	0.17031	0.250849104377	0.27660	0.206684947014	0.00678	T	0.170957	0.51890	T	-0.482588	0.00714	T	-0.463369	0.26232	T	0.00713084886484166	0.00081	T	0.486851	0.14885	T	0.06914246	0.15124	0.04629967	0.06424	0.06914246	0.15124	0.04629967	0.06423	-4.761	0.34204	T	.	.	0.078	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.380193	0.02287	0.239	0.48274080512602852	0.04015	0.06859	0.12885	N	AEFDBI	0.129688	0.24796	N	-1.63793166826999	0.01087	0.04717315	-1.7257651848285	0.01028	0.04611638	0.994428037075145	0.33631	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.76	-8.55	0.00790	-0.668000	0.05369	-0.289000	0.10208	-0.818000	0.02990	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1879:0.5807:0.0604:0.171	7.912	0.28960	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	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	772.83	35	chr10	49664976	.	C	T	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=215;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-1.219;SOR=1.015	GT:AD:DP:GQ:PL	0/1:17,29:46:99:783,0,365	5	0	1	0
chr10	77977388	77977388	C	T	UTR3	POLR3A	NM_007055:c.*90G>A	.	.	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	11	1478	32	1	0	34	0.0113712	.	.	.	322627	Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome|not_provided	MONDO:MONDO:0011897,MedGen:C4706676,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0015847	245	154602	rs146055367	0.0083	0.0085	0.0085	0.0082	0.0166	0.0082	0.0082	0.0133	0.0121	0.0020	0.0045	0.0047	2.587e-05	0.0091	0.0166	0.0096	0.0081	0.0030	0.0059	0.0059	0.0063	0.0055	0.0090	0.0056	0.0054	0.0084	0.0082	0.0017	0.0055	0.0056	0.0055	0	0.0075	0.0102	0.0090	0.0061	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	356.83	35	chr10	77977388	.	C	T	356.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.299;DP=201;ExcessHet=0;FS=6.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.978;SOR=2.212	GT:AD:DP:GQ:PL	0/1:14,12:26:99:367,0,460	5	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5586.48	10	chr10	90918983	.	AATAAATAAATATATATAT	A	5586.48	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.888;DP=171;ExcessHet=0;FS=1.996;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=30.52;ReadPosRankSum=1.51;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:82:1|1:90918983_AATAAATAAATATATATAT_A:1170,82,0:90918983	1	4	1	0
chr10	94236052	94236052	C	T	exonic	PLCE1	.	synonymous SNV	PLCE1:NM_001165979:exon6:c.C1428T:p.D476D,PLCE1:NM_001288989:exon7:c.C2352T:p.D784D,PLCE1:NM_016341:exon7:c.C2352T:p.D784D	Nephrotic syndrome, type 3, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	317336	Nephrotic_syndrome,_type_3|Kidney_disorder|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00738818	0.0035	0.0007	0.0003	0	0	3.027e-05	0.0023	0.0244	0.0030077	465	154602	rs201793869	0.0015	0.0015	0.0008	0.0021	0.0227	0.0014	0.0014	0.0219	0.0215	0.0005	0.0004	0	7.559e-05	0	0.0038	5.126e-05	0.0015	0.0227	0.0012	0.0012	0.0009	0.0016	0.0262	0.0011	0.0010	0.0225	0.0211	0.0007	0	0.0017	0	0.0004	0	0	5.881e-05	0	0.0262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.006559	0.005102	0.002717	0.005848	0.000000	0.000000	0.000000	0.015152	0.08333	2096.83	33	chr10	94236052	.	C	T	2096.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.419;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.344;SOR=0.693	GT:AD:DP:GQ:PL	0/1:85,85:170:99:2107,0,2087	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	1/1:0,39:39:99:1079,117,0	0	5	1	0
chr11	824021	824021	C	T	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon8:c.C943T:p.P315S	Neutral lipid storage disease with myopathy, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	254350	not_provided|Neutral_lipid_storage_myopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.209	0.33132841879	0.0007	0.000199681	0.0007	0.0001	0.0001	0	0	0.0009	0.0017	0.0010	0.0004463	69	154602	rs150385364	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0006	0.0008	0.0007	0.0002	6.734e-05	0	0	0	0.0002	0.0007	0.0008	0.0009	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0	0	0	9.413e-05	0	0.0005	0	0.0004	0.464	0.08634	T	0.54	0.09760	T	0.032	0.20242	B	0.017	0.18140	B	0.000573	0.43250	D	0.136711	0.992137	0.23930	N	2.015	0.55033	M	-1.0	0.76037	T	-0.62	0.18248	N	0.281	0.31814	-0.8476	0.52134	T	0.280	0.65189	T	10	0.059498847	0.07161	T	0.331328	0.91759	D	0.209	0.49871	.	.	0.807158024866	0.80535	0.29495890902339594	0.29408	0.231326964674	0.25683	0.505202770233	0.39553	T	0.217792	0.58033	T	-0.322409	0.06702	T	-0.323841	0.42152	T	0.0366625383861337	0.03096	T	0.867613	0.56877	D	0.047395583	0.08094	0.041475486	0.04721	0.047395583	0.08094	0.041475486	0.04721	-7.992	0.61016	D	0.0972078754124502	0.06811	0.091	0.13127	B	.	.	3.045141	0.40835	21.2	0.98712740158102819	0.45083	0.78240	0.38571	D	AEFBHCI	0.621593	0.60623	D	-0.104107316047763	0.37213	2.161855	-0.000640972728408202	0.39687	2.356946	0.999132142658559	0.38535	0.706548	0.73137	0	0.606735	0.50208	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.18	3.18	0.35615	5.287000	0.65449	5.502000	0.48775	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.647000	0.32611	0.1827:0.6621:0.1553:0.0	8.32	0.31285	878	0.29785	.	.	.	.	.	.	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	469.83	31	chr11	824021	.	C	T	469.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.549;DP=208;ExcessHet=0;FS=4.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.341;SOR=0.634	GT:AD:DP:GQ:PL	0/1:23,20:43:99:480,0,581	5	0	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	1/1:0,87:87:99:.:.:2656,261,0:.	0	3	3	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	0/1:2,7:21:26:335,156,143	2	0	3	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	0/1:24,13:37:99:284,0,607	1	3	2	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3592.5	34	chr11	17395957	.	A	G	3592.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.31;DP=263;ExcessHet=0.7136;FS=7.619;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-0.317;SOR=0.313	GT:AD:DP:GQ:PL	0/1:22,22:44:99:573,0,656	2	1	3	0
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	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	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	269.83	15	chr11	17396823	.	C	A	269.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.865;DP=95;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=0.193;SOR=1.609	GT:AD:DP:GQ:PL	0/1:5,9:14:99:280,0,132	5	0	1	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	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	0/1:69,84:153:99:2170,0,1678	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	0/1:113,90:203:99:2047,0,2935	0	1	5	0
chr11	66521290	66521290	C	T	exonic	BBS1	.	synonymous SNV	BBS1:NM_024649:exon9:c.C744T:p.P248P	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	429277	Bardet-Biedl_syndrome_1|not_specified|Bardet-Biedl_syndrome	MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.943e-05	0	0.0003	0	0	2.998e-05	0	0	5.17e-05	8	154602	rs528073027	5.609e-05	5.609e-05	6.126e-05	5.088e-05	0.0002	4.61e-05	4.236e-05	0.0001	0.0001	0	0.0002	0	0	1.872e-05	0	6.115e-05	3.312e-05	0	7.222e-05	7.218e-05	6.424e-05	8.055e-05	0.0003	3.968e-05	3.125e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	8.819e-05	0	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	.	.	.	.	.	.	.	.	0.1667	4223.04	34	chr11	66521290	.	C	T	4223.04	.	AC=2;AF=0.167;AN=12;DP=324;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.53;SOR=0.825	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4243,429,0	5	1	0	0
chr11	73968409	73968409	G	A	exonic	DNAJB13	.	nonsynonymous SNV	DNAJB13:NM_153614:exon6:c.G671A:p.R224H,DNAJB13:NM_001377263:exon7:c.G497A:p.R166H	Ciliary dyskinesia, primary, 34, Autosomal recessive	427	1092	3	0	0	3	0.00137174	.	.	.	713160	not_provided|Cough	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012735,MedGen:C0010200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.204	0.0789219970916	0.0038	0.000599042	0.0032	0.0011	0.0026	0	0.0014	0.0050	0.0022	0.0004	0.0035122	543	154602	rs147921001	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0010	0.0028	0.0001	2.519e-05	0.0021	0.0021	0.0059	0.0047	0.0003	0.0035	0.0035	0.0038	0.0033	0.0060	0.0033	0.0032	0.0055	0.0053	0.0012	0.0022	0.0026	0	0	0.0027	0.0034	0.0060	0.0043	0.0002	0.034	0.44029	D	0.009	0.66756	D	0.563	0.38396	P	0.081	0.28987	B	0.004046	0.34172	N	0.325774	0.864898	0.29192	N	2.32	0.66415	M	0.83	0.47815	T	-2.71	0.57762	D	0.387	0.42834	-0.7892	0.55776	T	0.088	0.34133	T	10	0.026716858	0.00832	T	0.078922	0.73116	D	0.204	0.49076	.	.	0.588082203375	0.58483	0.3847448005600294	0.38389	0.310688442189	0.33380	0.465925395489	0.34122	T	0.073734	0.34768	T	-0.435007	0.01384	T	-0.393489	0.34142	T	0.025827139741923	0.01382	T	0.921208	0.72041	D	0.116691545	0.27520	0.08889295	0.20755	0.11710543	0.27613	0.08738388	0.20307	-7.448	0.57243	T	0.18673874751455136	0.24320	0.096	0.27553	B	.;.;.	.;.;.	4.113361	0.61430	24.3	0.99858134068463411	0.93639	0.54273	0.29575	D	AEFDBCI	0.245647	0.36654	N	0.2118729314998	0.51773	3.356081	0.294554538480526	0.55220	3.68534	0.99978028436012	0.43007	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	1.918000	0.39636	9.811000	0.81748	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1695:0.0:0.8305:0.0	8.210	0.30638	262	0.89730	Chaperone DnaJ, 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	0.002518	0.020202	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.1667	5946.04	35	chr11	73968409	.	G	A	5946.04	.	AC=2;AF=0.167;AN=12;DP=371;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.97;SOR=1.038	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5966,558,0	5	1	0	0
chr11	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.25	1520.03	33	chr11	89284793	.	G	A	1520.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.41;DP=214;ExcessHet=1.383;FS=2.618;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.911;SOR=0.966	GT:AD:DP:GQ:PL	0/1:29,26:55:99:686,0,658	3	0	3	0
chr11	108250737	108250737	T	C	exonic	ATM	.	synonymous SNV	ATM:NM_000051:exon10:c.T1272C:p.P424P,ATM:NM_001351834:exon11:c.T1272C:p.P424P	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	17	1493	11	1	0	13	0.00433478	.	.	YES	139444	Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided|Breast_and/or_ovarian_cancer|Familial_cancer_of_breast|not_specified|Malignant_tumor_of_breast	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	9.792e-05	8.726e-05	0	0	0.0005	0.0011	0.0002	0.0002329	36	154602	rs35578748	0.0002	0.0002	0.0002	0.0003	0.0061	0.0002	0.0002	0.0045	0.0039	0.0002	0.0001	0.0002	0	0	0.0061	0.0002	0.0006	0.0003	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	7.272e-05	0	0.0001	0	0	0	0.0032	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006546	0.000000	0.006793	0.017544	0.000000	0.008621	0.003049	0.003788	0.1667	2116.04	40	chr11	108250737	.	T	C	2116.04	.	AC=2;AF=0.167;AN=12;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.8;SOR=1.195	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2136,211,0	5	1	0	0
chr12	2611965	2611965	C	A	exonic	CACNA1C	.	synonymous SNV	CACNA1C:NM_000719:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129829:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129830:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129831:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129833:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129834:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129835:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129836:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129837:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129838:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129839:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129840:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129841:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129842:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129843:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129844:exon29:c.C3771A:p.G1257G,CACNA1C:NM_001129846:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167623:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167624:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167625:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129827:exon30:c.C3840A:p.G1280G,CACNA1C:NM_001129832:exon30:c.C3840A:p.G1280G,CACNA1C:NM_199460:exon30:c.C3840A:p.G1280G	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1489	31	2	0	35	0.0116163	.	.	.	99310	Cardiovascular_phenotype|CACNA1C-related_disorder|not_specified|not_provided|Long_QT_syndrome	MedGen:CN230736|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.000399361	0.0023	0.0003	0.0033	0.0001	0	0.0024	0.0066	0.0046	0.0021345	330	154602	rs201258230	0.0016	0.0016	0.0016	0.0017	0.0052	0.0016	0.0016	0.0041	0.0040	0.0002	0.0029	0.0023	5.038e-05	5.617e-05	0.0052	0.0015	0.0025	0.0045	0.0013	0.0013	0.0014	0.0012	0.0033	0.0012	0.0011	0.0026	0.0023	0.0002	0	0.0033	0.0060	0	9.423e-05	0.0034	0.0014	0.0066	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	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	2031.83	34	chr12	2611965	.	C	A	2031.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.509;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.499;SOR=0.727	GT:AD:DP:GQ:PL	0/1:69,90:159:99:2042,0,1801	5	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3333	798.23	32	chr12	6018369	.	T	G	798.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.955;DP=257;ExcessHet=3.1439;FS=14.048;MLEAC=4;MLEAF=0.333;MQ=55.31;MQRankSum=-6.059;QD=4.59;ReadPosRankSum=1.3;SOR=0.242	GT:AD:DP:GQ:PL	0/1:29,10:39:99:150,0,786	2	0	4	0
chr12	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7250.44	37	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	7250.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.401;DP=420;ExcessHet=0.1336;FS=1.101;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=28.21;ReadPosRankSum=0.388;SOR=0.691	GT:AD:DP:GQ:PL	0/1:31,14:45:99:497,0,1246	5	0	1	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	1/1:0,9:9:36:412,36,0	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	1/0:1,27:34:46:749,119,46	0	0	6	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	0/1:4,4:8:99:103,0,111	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	1/1:0,50:50:99:1505,150,0	0	3	3	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	0/1:73,47:120:99:867,0,2148	4	0	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	0/1:82,81:163:99:1992,0,1811	4	0	2	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	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	0/1:18,13:31:99:.:.:495,0,711:.	1	0	5	0
chr13	48477385	48477385	G	T	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon26:c.G2694T:p.Q898H	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	2	1519	1	0	0	1	0.000329056	.	.	.	463700	Malignant_tumor_of_urinary_bladder|Retinoblastoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0289570853398	.	.	1.749e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757275103	4.807e-06	4.789e-06	2.735e-06	6.899e-06	8.132e-05	2e-06	1.29e-06	3.772e-05	2.666e-05	0	0	0	0	0	0	0	0	8.132e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.195	0.28032	T	0.15	0.27995	B	0.134	0.33146	B	0.000722	0.42129	D	0.209202	0.599486	0.30952	N	0.755	0.19153	N	-1.39	0.80387	T	-1.01	0.26639	N	0.209	0.23253	-0.8140	0.54306	T	0.234	0.60075	T	10	0.1258696	0.23923	T	0.028957	0.51551	D	0.131	0.35738	0.444	0.50139	0.7378913793	0.73554	0.2456209694075643	0.24476	0.723459180675	0.62336	0.62892127037	0.56991	T	0.425313	0.77547	T	-0.2138	0.18848	T	-0.363358	0.37662	T	0.106003314256668	0.13005	T	0.80432	0.45191	T	0.05915922	0.11989	0.054509163	0.09390	0.05915922	0.11988	0.054509163	0.09390	-5.312	0.40062	T	.	.	0.429	0.61151	A	.;.	.;.	1.326333	0.17311	13.09	0.95432419462589146	0.26927	0.52540	0.29156	D	AEFDGBHCI	0.409576	0.48080	N	-0.705844961585747	0.15857	0.8028739	-0.605690973366811	0.19346	1.037575	0.99990251090817	0.45458	0.75658	0.98901	0	0.858454	0.99946	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.11	-0.334	0.12038	0.103000	0.15128	0.253000	0.16451	-0.116000	0.14526	0.936000	0.32490	0.284000	0.24125	0.928000	0.46473	0.5119:0.1407:0.3475:0.0	5.657	0.16922	717	0.55835	Retinoblastoma-associated protein, C-terminal|Retinoblastoma-associated protein, C-terminal;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	726.83	32	chr13	48477385	.	G	T	726.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.789;DP=222;ExcessHet=0;FS=1.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.986;SOR=0.754	GT:AD:DP:GQ:PL	0/1:21,30:51:99:737,0,487	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	1/1:0,31:33:97:1209,97,0	3	1	2	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	0/1:23,22:45:99:723,0,755	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	0/1:1,3:4:31:110,0,31	3	0	3	0
chr14	104707526	104707531	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1259_1264del:p.P427_P428del,INF2:NM_022489:exon8:c.1259_1264del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	335402	Focal_segmental_glomerulosclerosis|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0210	.	0.0865	0.0332	0.0538	0.0084	0	0.0878	0.1077	0.0921	0.0013063	34	26028	rs775646511	0.0829	0.0766	0.0815	0.0844	0.1200	0.0825	0.0823	0.1107	0.1070	0.0659	0.0562	0.1174	0.0148	0.0608	0.1200	0.0856	0.0913	0.0790	0.0600	0.0698	0.0625	0.0573	0.0723	0.0589	0.0584	0.0705	0.0697	0.0477	0.0566	0.0530	0.1011	0.0083	0.0377	0.0756	0.0723	0.0676	0.0603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3307.33	28	chr14	104707525	.	ACCCCAC	A	3307.33	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.92;DP=312;ExcessHet=0.7136;FS=2.505;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=30.48;ReadPosRankSum=0.58;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,11:36:99:.:.:1490,1042,1005:.	3	0	3	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.08333	48.83	69	chr15	43600624	.	C	A	48.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=483;ExcessHet=0;FS=5.714;MLEAC=1;MLEAF=0.083;MQ=58.41;MQRankSum=-9.118;QD=0.52;ReadPosRankSum=-0.163;SOR=1.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,8:94:59:0|1:43600609_G_A:59,0,3466:43600609	5	0	1	0
chr15	44592357	44592357	G	A	exonic	SPG11	.	synonymous SNV	SPG11:NM_001160227:exon27:c.C4717T:p.L1573L,SPG11:NM_025137:exon27:c.C4717T:p.L1573L	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	688423	Hereditary_spastic_paraplegia_11|Hereditary_spastic_paraplegia	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0003	0	0	0	0	0	0	0.0019	0.0002329	36	154602	rs560868702	8.643e-05	8.688e-05	4.643e-05	0.0001	0.0013	7.373e-05	6.922e-05	0.0011	0.0010	0	0	0	0	0	0	1.804e-06	0.0002	0.0013	4.598e-05	4.593e-05	1.285e-05	8.06e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	556.83	35	chr15	44592357	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=1.81;SOR=0.637	GT:AD:DP:GQ:PL	0/1:47,29:76:99:567,0,1158	5	0	1	0
chr15	45108074	45108074	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon13:c.G1547A:p.R516H,DUOX2:NM_014080:exon13:c.G1547A:p.R516H	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1354268	not_specified|not_provided|Thyroid_dyshormonogenesis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	0.164244919683	0.0003	0.000599042	0.0001	0.0011	0	0	0	4.5e-05	0	0	0.0001294	20	154602	rs143818717	4.994e-05	4.994e-05	5.99e-05	3.988e-05	0.0012	4.059e-05	3.734e-05	0.0009	0.0008	0.0012	8.944e-05	0	2.519e-05	0	0	2.068e-05	6.623e-05	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.725	0.94815	H	-1.21	0.78645	T	-4.53	0.78388	D	0.899	0.91852	0.496	0.90491	D	0.625	0.86796	D	9	0.5373441	0.63523	D	0.164245	0.84340	D	0.672	0.87868	.	.	0.916113025476	0.91527	0.8284642214615898	0.82804	0.410623561839	0.41840	0.734249830246	0.72128	T	0.344819	0.90463	T	0.139235	0.68253	D	0.358402	0.90642	D	0.748047471046448	0.43177	D	0.945705	0.79334	D	0.92579263	0.93817	0.8077276	0.88756	0.92579263	0.93818	0.8077276	0.88757	-8.24	0.62694	D	0.8197985288597882	0.89302	0.339	0.55849	B	.;.	.;.	5.374884	0.90099	31	0.99946602041513988	0.99913	0.98951	0.89073	D	AEFDBI	0.935788	0.93115	D	1.012471904488	0.96115	14.31881	0.932119310237094	0.96826	15.19865	0.999999999999411	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.47	5.47	0.80345	7.708000	0.83603	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.321	0.90178	596	0.68392	Dual oxidase, peroxidase domain;Dual oxidase, peroxidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	847.83	33	chr15	45108074	.	C	T	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.872;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.77;SOR=0.641	GT:AD:DP:GQ:PL	0/1:29,35:64:99:858,0,698	5	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	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	1/1:0,92:92:99:2693,275,0	0	6	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	205	10	0	6	5	17	0.375	.	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	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	1/0:0,3:6:99:223,105,117	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	0/1:0,3:6:99:223,126,117	2	0	4	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	617.23	110	chr16	15725134	.	T	TA	617.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=661;ExcessHet=3.1439;FS=1.266;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=-0.038;SOR=0.572	GT:AD:DP:GQ:PL	0/1:65,11:83:17:17,0,1439	2	0	4	0
chr16	20348216	20348216	G	A	intronic	UMOD	.	.	.	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	0	1509	12	1	0	14	0.00461741	0.0004	0.01	.	876633	UMOD-related_disorder|Kidney_disorder|Familial_juvenile_hyperuricemic_nephropathy_type_1|not_provided	.|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0008073,MedGen:C4551496,OMIM:162000,Orphanet:209886,Orphanet:34149,Orphanet:88950|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	9.615e-05	0	0	0	0.0002	0.0011	0.0023	0.0003493	54	154602	rs557659943	0.0004	0.0004	0.0003	0.0004	0.0030	0.0003	0.0003	0.0027	0.0026	0.0001	4.472e-05	7.653e-05	2.519e-05	5.664e-05	0.0014	0.0002	0.0003	0.0030	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.405e-05	0	0.0002	0	0	9.423e-05	0	0.0002	0.0005	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	1185.83	33	chr16	20348216	.	G	A	1185.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.366;DP=254;ExcessHet=0;FS=10.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=1.74;SOR=0.17	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1196,0,946	5	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.1667	2892.06	35	chr16	55810997	.	T	C	2892.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=772;ExcessHet=0.4139;FS=0.584;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=0.161;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,84:238:99:0|1:55810997_T_C:1689,0,4829:55810997	4	0	2	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	84.69	81	chr17	3648932	.	G	C	84.69	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.569;DP=463;ExcessHet=1.383;FS=322.385;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-0.181;SOR=10.408	GT:AD:DP:GQ:PL	0/1:43,20:66:19:19,0,824	3	0	3	0
chr17	10641379	10641379	-	A	intronic	MYH3	.	.	.	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327244	Arthrogryposis_multiplex_congenita|not_specified|Freeman-Sheldon_syndrome|not_provided	Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|MedGen:CN169374|MONDO:MONDO:0008675,MedGen:C0265224,OMIM:193700,Orphanet:2053|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0615016	0.0433	0.1347	0.0214	0.0124	0.0167	0.0344	0.0224	0.0675	0.0004528	70	154602	rs572601311	0.0401	0.0414	0.0402	0.0400	0.1306	0.0398	0.0397	0.1273	0.1259	0.1306	0.0189	0.0251	0.0101	0.0173	0.0385	0.0387	0.0429	0.0646	0.0585	0.0586	0.0603	0.0567	0.1281	0.0575	0.0571	0.1252	0.1240	0.1281	0.0484	0.0278	0.0291	0.0090	0.0138	0.0458	0.0355	0.0433	0.0702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2247.71	20	chr17	10641379	.	G	GA	2247.71	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.711;DP=201;ExcessHet=0.7136;FS=6.226;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=1.49;SOR=1.393	GT:AD:DP:GQ:PL	0/1:0,12:33:99:840,593,712	4	0	2	0
chr17	15999509	15999509	G	C	intronic	ZSWIM7	.	.	.	.	1	1508	13	0	0	13	0.00429185	.	.	.	141472	not_specified|Mitochondrial_complex_III_deficiency_nuclear_type_1	MedGen:CN169374|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000,Orphanet:254902	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0010	0.0006	0.0004	0	0	0.0010	0	0.0025	0.0006209	96	154602	rs200004394	0.0010	0.0010	0.0010	0.0011	0.0036	0.0010	0.0010	0.0023	0.0019	0.0002	0.0002	0	0	0	0.0036	0.0011	0.0011	0.0018	0.0007	0.0007	0.0007	0.0007	0.0021	0.0006	0.0005	0.0011	0.0009	0.0002	0	0.0003	0	0	0	0.0034	0.0011	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000508	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1447.83	34	chr17	15999509	.	G	C	1447.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.159;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.297;SOR=0.739	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1458,0,1052	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	1/1:0,2:2:6:84,6,0	0	3	0	3
chr17	18127112	18127112	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon7:c.C3979T:p.L1327L	Deafness, autosomal recessive 3, Autosomal recessive	0	1429	89	4	0	97	0.0328257	.	.	.	54910	not_provided|MYO15A-related_disorder|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0019	0	0.0012	0	0	0.0011	0.0045	0.0081	0.0015912	246	154602	rs146245515	0.0012	0.0012	0.0009	0.0014	0.0132	0.0011	0.0011	0.0108	0.0099	8.961e-05	0.0011	0.0006	5.038e-05	3.749e-05	0.0132	0.0006	0.0024	0.0081	0.0010	0.0010	0.0009	0.0011	0.0106	0.0009	0.0008	0.0083	0.0074	4.814e-05	0	0.0022	0.0017	0	0	0.0102	0.0007	0.0033	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.009063	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.018939	0.08333	1219.83	64	chr17	18127112	.	C	T	1219.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.054;DP=418;ExcessHet=0;FS=0.653;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.231;SOR=0.76	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1230,0,1967	5	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	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	0/1:2,10:19:86:407,86,160	0	0	6	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.5	5194.53	39	chr17	19909228	.	T	C	5194.53	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.736;DP=415;ExcessHet=2.3007;FS=2.763;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.035;SOR=0.773	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2155,216,0	1	1	4	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|1:92,53:145:99:0|1:21300875_G_T:1949,0,3647:21300875	0	0	6	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1441.98	9	chr17	61483613	.	A	AGTGTGTGT	1441.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.967;DP=117;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=31.35;ReadPosRankSum=0;SOR=2.584	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,7:7:20:.:.:296,20,0:.	5	1	0	0
chr17	75835542	75835542	G	A	intronic	UNC13D	.	.	.	Hemophagocytic lymphohistiocytosis, familial, 3	0	1513	8	1	0	10	0.00329381	.	.	.	880595	Familial_hemophagocytic_lymphohistiocytosis_3	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0002	0	2.309e-05	0	0.0015	0.0001552	24	154602	rs745855631	0.0001	0.0001	6.452e-05	0.0001	0.0012	9.002e-05	8.481e-05	0.0010	0.0009	3.017e-05	0	3.866e-05	0.0003	3.868e-05	0.0005	2.08e-05	0.0001	0.0012	5.256e-05	5.253e-05	6.424e-05	4.034e-05	0.0004	2.557e-05	1.83e-05	7.285e-05	3.027e-05	0	0	0	0	0	0	0	8.818e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	804.83	38	chr17	75835542	.	G	A	804.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.598;DP=291;ExcessHet=0;FS=3.114;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.566;SOR=1.179	GT:AD:DP:GQ:PL	0/1:44,33:77:99:815,0,1109	5	0	1	0
chr17	75843245	75843245	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon3:c.G175A:p.A59T	Hemophagocytic lymphohistiocytosis, familial, 3	1	1336	170	15	0	200	0.0696379	.	.	YES	256450	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	.	0.0161	0.0155751	0.0159	0.0137	0.0179	0.0005	0.0019	0.0182	0.0284	0.0196	0.0154073	2382	154602	rs9904366	0.0141	0.0141	0.0133	0.0148	0.1318	0.0139	0.0139	0.1240	0.1209	0.0168	0.0152	0.0625	5.038e-05	0.0015	0.1318	0.0124	0.0204	0.0206	0.0145	0.0145	0.0150	0.0140	0.0224	0.0140	0.0138	0.0190	0.0177	0.0129	0.0230	0.0164	0.0735	0.0006	0.0008	0.1122	0.0136	0.0294	0.0224	0.041	0.41915	D	0.349	0.18732	T	0.005	0.12996	B	0.002	0.06944	B	0.032492	0.25022	N	0.382752	0.648271	0.30556	N	1.7	0.43825	L	-0.53	0.79072	T	-1.57	0.40468	N	0.079	0.05414	-0.8373	0.52826	T	0.095	0.35924	T	10	0.0044733584	0.00092	T	.	.	.	0.075	0.21907	.	.	.	.	0.27349341922199	0.27262	0.0954696783564	0.10785	0.415600240231	0.27230	T	0.274639	0.64714	T	-0.518305	0.00450	T	-0.50103	0.22241	T	0.00818269309861062	0.00098	T	0.726827	0.37500	T	0.055480037	0.10788	0.1159988	0.28004	0.071086764	0.15709	0.11007209	0.26536	-7.332	0.56422	T	0.4515954250924326	0.53531	0.130	0.34819	B	.;.;.;.;.	.;.;.;.;.	2.890299	0.38275	20.7	0.99666906948177392	0.78330	0.73832	0.36113	D	AEFDBHCIJ	0.230731	0.35406	N	-0.355012734322899	0.27089	1.483451	-0.240752692367709	0.30090	1.691322	0.999999997976585	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.478664	0.07449	1	0.655142	0.61905	0	.	.	4.86	3.89	0.44098	1.873000	0.39195	3.220000	0.36848	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.561000	0.30436	0.0:0.9145:0.0:0.0855	11.340	0.48768	929	0.16858	.;.;.;.;.	ACOX1|CDK3|WBP2	Adrenal_Gland|Cells_Cultured_fibroblasts|Esophagus_Mucosa	.	.	rs9904366	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	0.120829	0.136364	0.139946	0.233918	0.100000	0.129310	0.068323	0.022727	0.1667	4703.06	38	chr17	75843245	.	C	T	4703.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.855;DP=737;ExcessHet=0.4139;FS=0.379;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.537;SOR=0.664	GT:AD:DP:GQ:PL	0/1:64,80:144:99:2008,0,1411	4	0	2	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.4167	9643.52	41	chr17	80184196	.	G	A	9643.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.983;DP=819;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.162;SOR=0.753	GT:AD:DP:GQ:PL	0/1:84,70:154:99:1676,0,2263	1	0	5	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	1/1:0,113:113:99:3540,339,0	0	3	3	0
chr18	46524695	46524695	C	A	intronic	LOXHD1	.	.	.	Deafness, autosomal recessive 77, Autosomal recessive	0	1502	20	0	0	20	0.00661376	.	.	.	230930	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0018	0.0004	0.0024	0	0	0	0	0.0045	0.0002587	40	154602	rs570127242	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	6.33e-05	8.402e-05	0	0	0	0.0037	2.502e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	2.404e-05	0	0.0002	0	0	0	0	4.409e-05	0	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3016.83	34	chr18	46524695	.	C	A	3016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=651;ExcessHet=0;FS=5.916;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.22;SOR=1.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,114:213:99:1|0:46524687_C_T:3027,0,3755:46524687	5	0	1	0
chr19	33301849	33301851	GGC	-	exonic	CEBPA	.	nonframeshift deletion	CEBPA:NM_001285829:exon1:c.207_209del:p.P70del,CEBPA:NM_001287424:exon1:c.669_671del:p.P224del,CEBPA:NM_001287435:exon1:c.522_524del:p.P175del,CEBPA:NM_004364:exon1:c.564_566del:p.P189del	Leukemia, acute myeloid, somatic	26	1477	19	0	0	19	0.00639085	.	.	.	647908	Hereditary_cancer-predisposing_syndrome|not_provided|CEBPA-related_disorder|Acute_myeloid_leukemia|Inborn_genetic_diseases	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0460	.	0.0275	0.0526	0.125	0	.	0.0311	0	0.0260	0.0001153	3	26028	rs781757114	0.0020	0.0126	0.0018	0.0023	0.0085	0.0020	0.0019	0.0078	0.0075	0.0015	0.0085	0.0042	0.0020	0.0052	0.0036	0.0015	0.0028	0.0085	2.702e-05	0.0001	1.316e-05	4.161e-05	4.879e-05	8.31e-06	5.26e-06	8.09e-06	3.03e-06	4.879e-05	0	0	0.0003	0	0	0	1.506e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021311	0.007812	0.000000	0.034884	0.000000	0.000000	0.040323	0.015152	0.1667	244.03	22	chr19	33301848	.	GGGC	G	244.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.606;DP=110;ExcessHet=0.4139;FS=1.617;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.061;SOR=0.35	GT:AD:DP:GQ:PL	0/1:14,4:18:99:126,0,575	4	0	2	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	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	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.08333	704.83	33	chr19	38930489	.	G	A	704.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=214;ExcessHet=0;FS=1.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.424;SOR=0.446	GT:AD:DP:GQ:PL	0/1:14,24:38:99:715,0,359	5	0	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	1/1:0,130:130:99:3806,390,0	1	2	3	0
chr20	46128304	46128304	-	TT	intronic	CD40	.	.	.	Immunodeficiency with hyper-IgM, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	350041	not_provided|Hyperimmunoglobulin_M_syndrome	MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0274	0.0120	0.0110	0.0156	0.0074	0.0160	0.0183	0.0908	0.0033426	87	26028	rs749590513	0.1204	0.1524	0.1209	0.1199	0.1416	0.1199	0.1197	0.1381	0.1367	0.0660	0.0865	0.1065	0.1416	0.0741	0.0672	0.1250	0.1213	0.1206	0.2292	0.2698	0.2372	0.2199	0.3799	0.2267	0.2257	0.3626	0.3556	0.1408	0.2706	0.2220	0.2808	0.3799	0.1099	0.1340	0.2704	0.2297	0.2347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	464.91	3	chr20	46128304	.	C	CTT	464.91	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.431;DP=227;ExcessHet=6.1542;FS=1.018;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.401;SOR=0.99	GT:AD:DP:GQ:PL	0/1:2,3:5:35:73,0,35	4	0	2	0
chr21	46412995	46412995	G	A	intronic	PCNT	.	.	.	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1521	1	0	0	1	0.000328623	0.0001	0.148	.	208758	not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II|PCNT-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0.0058	0	0.0001	0	0	0.0003816	59	154602	rs760779996	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0	0	0	0.0029	0	0	0.0002	0.0002	9.278e-05	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	2.409e-05	0	0	0	0.0023	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	575.83	34	chr21	46412995	.	G	A	575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=226;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-1.004;SOR=1.013	GT:AD:DP:GQ:PL	0/1:32,22:54:99:586,0,814	5	0	1	0
chr22	23573471	23573471	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C440T:p.T147M,IGLL1:NM_020070:exon3:c.C437T:p.T146M	Agammaglobulinemia 2, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	538496	Agammaglobulinemia_2,_autosomal_recessive|not_provided	MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00468859019553	0.0007	0.00199681	0.0012	0.0004	0.0008	0.0043	0	0.0008	0.0011	0.0022	0.0010802	167	154602	rs112775194	0.0008	0.0019	0.0008	0.0009	0.0031	0.0008	0.0008	0.0027	0.0025	0.0007	0.0004	0.0015	0.0031	0.0001	0.0023	0.0006	0.0010	0.0029	0.0012	0.0023	0.0011	0.0012	0.0050	0.0010	0.0010	0.0035	0.0030	0.0007	0	0.0003	0.0009	0.0050	0	0	0.0014	0.0009	0.0033	0.024	0.91255	D	0.023	0.57104	D	0.842	0.46562	P	0.744	0.55835	P	0.761581	0.09619	N	0.883025	1	0.08975	N	2.26	0.64354	M	4.02	0.03178	T	-3.74	0.78046	D	0.119	0.10911	-1.0513	0.14036	T	0.019	0.08126	T	10	0.016934574	0.00359	T	0.004689	0.11660	T	0.065	0.18881	.	.	0.209622950755	0.20551	0.3573142907836002	0.35645	0.160446265012	0.18105	0.443933844566	0.31114	T	0.272379	0.64476	T	-0.492915	0.00627	T	-0.481096	0.24331	T	0.08163252429545	0.10195	T	0.358264	0.08182	T	0.12560488	0.29439	0.23286574	0.48460	0.09550721	0.22479	0.20060235	0.43998	-7.736	0.59257	D	0.21295265438520086	0.28585	0.073	0.06159	B	.;.	.;.	1.615803	0.20643	14.84	0.97134583456692747	0.32512	0.00769	0.03173	N	AEFGI	0.046750	0.07797	N	-0.920966437021993	0.10352	0.4942933	-1.2079908728977	0.05780	0.276408	7.67661893798426E-5	0.04552	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	-1.69	0.07747	0.041000	0.13813	-8.323000	0.00989	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2415:0.0:0.5726:0.1859	3.881	0.08584	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.003784	0.005263	0.002717	0.004132	0.000000	0.000000	0.003145	0.003906	0.08333	1593.83	45	chr22	23573471	.	G	A	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.102;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=-0.932;QD=12.36;ReadPosRankSum=1.08;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1604,0,1593	5	0	1	0
chr22	41926712	41926712	G	C	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon1:c.C62G:p.P21R	Immunodeficiency, common variable, 4, Autosomal recessive	15	1338	155	14	0	183	0.0640084	.	.	.	351721	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0228	0.0445288	0.0680	0.0278	0.0143	0.0192	.	0.0675	0.075	0.0707	0.0156208	2415	154602	rs77874543	0.0757	0.0701	0.0763	0.0751	0.0807	0.0753	0.0751	0.0803	0.0801	0.0105	0.0430	0.0485	0.0477	0.0840	0.0523	0.0807	0.0666	0.0610	0.0559	0.0559	0.0562	0.0556	0.0794	0.0549	0.0545	0.0777	0.0769	0.0136	0.0418	0.0572	0.0446	0.0429	0.0777	0.0345	0.0794	0.0587	0.0606	0.269	0.16091	T	0.331	0.18505	T	0.177	0.28923	B	0.075	0.28327	B	0.055018	0.02067	N	2.146310	1	0.08975	P	0.55	0.14455	N	1.53	0.30401	T	-1.69	0.40274	N	0.032	0.00825	-1.0627	0.11093	T	0.003	0.00961	T	9	0.002217114	0.00032	T	.	.	.	0.026	0.05648	.	.	.	.	0.04705350402181684	0.04648	1.2817330372	0.82558	0.726921379566	0.71056	T	0.256713	0.62766	T	-0.726849	0.00025	T	-0.752614	0.03385	T	0.000626430001430001	0.00006	T	0.325267	0.06676	T	0.12616447	0.29558	0.09551607	0.22656	0.12616447	0.29558	0.09551607	0.22655	-4.891	0.35633	T	0.19346262128255112	0.25457	0.065	0.01960	B	.	.	1.243087	0.16388	12.51	0.73759748228903677	0.10445	0.07539	0.13553	N	ALL	0.051617	0.09136	N	-1.01591527802177	0.08273	0.3873328	-1.06527188759641	0.08392	0.4124026	0.999999997465868	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.67	0.119	0.13989	-0.668000	0.05369	-0.744000	0.07606	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.1662:0.0:0.4361:0.3977	5.210	0.14633	130	0.94779	Tumour necrosis factor receptor 13C, TALL-1 binding domain	NAGA|SMDT1|NDUFA6-AS1|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NAGA|SMDT1|SMDT1|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|CYP2D7|CYP2D7|SMDT1|RP4-669P10.20|CYP2D7|TNFRSF13C|FAM109B|SMDT1|TNFRSF13C|SMDT1|NDUFA6-AS1|SMDT1|NDUFA6-AS1|CYP2D6|RP4-669P10.20|CYP2D7|SMDT1|CENPM|SMDT1|CYP2D6|CYP2D7|SMDT1|NAGA|RP4-669P10.19|NAGA|SMDT1|SEPT3|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|RP4-669P10.19|RP4-669P10.20|EP300|NAGA|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|SMDT1|SMDT1|SMDT1|CYP2D7|SMDT1|NDUFA6-AS1|ACO2|CENPM|NAGA|SMDT1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D8P|CENPM|NAGA|SMDT1|CYP2D6|CYP2D7|CYP2D8P|SMDT1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NDUFA6-AS1|TNFRSF13C|SMDT1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|NDUFA6-AS1|OLA1P1|CYP2D6|RP4-669P10.20|CYP2D7|CYP2D8P|SMDT1|DESI1|SMDT1|CYP2D6|CYP2D7|CYP2D8P	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	CYP2D6|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D7|SREBF2|CYP2D6|CYP2D7|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|SREBF2|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|SREBF2|CYP2D6|CYP2D7	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|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|Testis|Whole_Blood|Whole_Blood|Whole_Blood	rs77874543	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.047660	0.030303	0.030556	0.072034	0.000000	0.064516	0.055000	0.034722	0.25	563.62	15	chr22	41926712	.	G	C	563.62	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.18;DP=90;ExcessHet=1.383;FS=1.026;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.29;SOR=0.518	GT:AD:DP:GQ:PL	0/1:10,5:15:96:96,0,183	3	0	3	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|1:39,38:77:99:0|1:43928847_C_G:1436,0,1492:43928847	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	0/1:55,62:117:99:1443,0,1365	2	0	4	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1667	2745.04	33	chrX	154532990	.	C	T	2745.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.19;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2765,264,0	5	1	0	0