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	NSWES636	WT	HH	HZ	NC
chr1	17027879	17027884	GAAGAA	-	intronic	SDHB	.	.	.	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	3	1418	2	0	99	101	0.000704722	.	.	.	249531	Pheochromocytoma|not_provided|Paragangliomas_4|Hereditary_pheochromocytoma-paraganglioma|Carney-Stratakis_syndrome|Cowden_syndrome|Gastrointestinal_stromal_tumor|not_specified	Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0040	.	0.0022	0.0005	0.0012	0.0010	0.0003	0.0027	0.0037	0.0028	0.0003842	10	26028	rs34261028	0.0023	0.0028	0.0022	0.0024	0.0024	0.0022	0.0022	0.0024	0.0023	0.0008	0.0016	0.0049	0.0002	0.0005	0.0021	0.0024	0.0032	0.0023	0.0022	0.0022	0.0023	0.0022	0.0038	0.0020	0.0019	0.0030	0.0027	0.0006	0	0.0038	0.0063	0.0002	0.0006	0.0034	0.0031	0.0043	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1091.79	34	chr1	17027878	.	GGAAGAA	G	1091.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=281;ExcessHet=0;FS=4.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.467;SOR=1.216	GT:AD:DP:GQ:PL	0/1:56,31:90:99:1102,0,2224	5	0	1	0
chr1	21879108	21879108	T	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon18:c.A2360G:p.N787S,HSPG2:NM_005529:exon18:c.A2357G:p.N786S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	.	205727	Lethal_Kniest-like_syndrome|not_provided|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	0.0065	0.00179712	0.0067	0.0012	0.0020	0	0.0157	0.0095	0.0088	0.0017	0.0063324	979	154602	rs143736974	0.0070	0.0070	0.0070	0.0071	0.0076	0.0069	0.0069	0.0074	0.0074	0.0008	0.0023	0.0077	2.519e-05	0.0159	0.0024	0.0076	0.0068	0.0029	0.0061	0.0061	0.0060	0.0061	0.0087	0.0057	0.0056	0.0081	0.0079	0.0013	0	0.0046	0.0086	0.0002	0.0149	0.0034	0.0087	0.0057	0.0019	0.252	0.17014	T	0.018	0.59732	D	0.999	0.77913	D	0.992	0.80445	D	0.000738	0.42129	D	0.000000	0.745274	0.29693	N	2.905	0.84014	M	-0.22	0.66474	T	-2.78	0.58896	D	0.507	0.53884	-0.1510	0.78892	T	0.420	0.76550	T	10	0.012245119	0.00264	T	.	.	.	0.375	0.69358	.	.	0.609643014007	0.60650	0.27630792947456645	0.27543	0.183394758228	0.20629	0.496132850647	0.38290	T	0.314263	0.68595	T	-0.425831	0.01571	T	-0.375058	0.36300	T	0.0574038816292067	0.06754	T	0.894311	0.63332	D	0.48040593	0.65925	0.4265307	0.66427	0.48040593	0.65925	0.4265307	0.66427	-9.241	0.69235	D	.	.	0.198	0.42067	B	.	.	4.341864	0.66620	25.0	0.99827877460282632	0.91026	0.91085	0.52830	D	AEFBCI	0.660999	0.63137	D	0.647559683825149	0.76212	6.444776	0.558657061133332	0.72004	5.741643	0.999963396408416	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	4.08	0.46880	5.187000	0.64925	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.086:0.0:0.914	9.359	0.37349	796	0.45353	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs143736974	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	.	.	.	.	.	.	.	.	0.08333	314.83	36	chr1	21879108	.	T	C	314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.35;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.427;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,12:47:99:325,0,878	5	0	1	0
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	0/1:67,57:124:99:2150,0,2614	2	0	4	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	1/1:0,168:168:99:5447,504,0	0	6	0	0
chr1	92478757	92478757	-	AGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	283368	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0327	0.0359	0.0225	0.0439	0.0269	0.0289	0.0242	0.0481	0.0189907	2936	154602	rs371078453	0.0531	0.0615	0.0531	0.0531	0.0744	0.0528	0.0527	0.0720	0.0711	0.0667	0.0529	0.0729	0.0744	0.0562	0.0574	0.0506	0.0558	0.0621	0.0643	0.0678	0.0644	0.0642	0.1236	0.0632	0.0627	0.1151	0.1117	0.0807	0.0320	0.0678	0.0861	0.1236	0.0495	0.0699	0.0516	0.0513	0.0704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2380.76	13	chr1	92478757	.	C	CAGAGAGAG	2380.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.805;DP=175;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=34.01;ReadPosRankSum=0;SOR=1.434	GT:AD:DP:GQ:PL	0/1:1,11:12:11:426,0,11	3	0	2	1
chr1	114688633	114688633	G	A	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon2:c.C230T:p.P77L,AMPD1:NM_000036:exon3:c.C143T:p.P48L	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1311	197	13	0	223	0.0783831	.	.	.	59862	AMPD1-related_disorder|Muscle_AMP_deaminase_deficiency|not_provided	.|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.513	.	0.0959	0.0389377	0.0884	0.0204	0.0414	0	0.1190	0.1284	0.0936	0.0359	0.0907039	14023	154602	rs61752479	0.1149	0.1149	0.1169	0.1129	0.1321	0.1144	0.1142	0.1315	0.1313	0.0179	0.0524	0.0794	0.0002	0.1185	0.0700	0.1321	0.1031	0.0357	0.0864	0.0864	0.0890	0.0837	0.1345	0.0852	0.0847	0.1322	0.1312	0.0220	0.1352	0.0726	0.0735	0.0006	0.1190	0.1020	0.1345	0.0825	0.0278	0.0	0.91255	D	0.012	0.66756	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	5.66441e-12	0.58761	P	2.36	0.67893	M	-0.06	0.63568	T	-4.77	0.81675	D	0.319	0.52297	-0.4319	0.71004	T	0.327	0.69547	T	9	0.0030060112	0.00049	T	.	.	.	0.513	0.79156	.	.	.	.	0.6895456751198693	0.68894	0.458877496628	0.45489	0.575833857059	0.49499	T	0.66843	0.90131	D	-0.230384	0.16599	T	0.026113	0.72025	D	0.0275783631916759	0.01628	T	0.828517	0.49290	T	0.6593905	0.75866	0.67231613	0.80768	0.6971688	0.77904	0.6990365	0.82272	-5.592	0.42719	T	.	.	0.630	0.72046	P	.;.	.;.	5.188437	0.87016	29.1	0.99860740577331131	0.93911	0.99136	0.91756	D	AEFDBI	0.834469	0.75252	D	0.710865082701106	0.80343	7.27372	0.688672192200562	0.81517	7.54557	0.999999999756748	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	9.346000	0.96459	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	20.025	0.97519	819	0.41190	.;.	DCLRE1B|AMPD1|BCAS2|BCAS2	Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs61752479	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	0.067976	0.055556	0.082880	0.058480	0.150000	0.051724	0.097561	0.037879	0.3333	4207.91	33	chr1	114688633	.	G	A	4207.91	.	AC=4;AF=0.333;AN=12;DP=268;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;QD=31.17;SOR=1.011	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2051,201,0	4	2	0	0
chr1	114693436	114693436	G	A	exonic	AMPD1	.	stopgain	AMPD1:NM_000036:exon2:c.C34T:p.Q12X	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	10	1322	174	16	0	206	0.0722807	0.0437	0.214	YES	33310	not_specified|Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder	MedGen:CN169374|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.0946	0.038139	0.0871	0.0205	0.0405	0	0.1181	0.1264	0.0929	0.0356	0.0032657	85	26028	rs17602729	0.1089	0.1113	0.1106	0.1071	0.1250	0.1084	0.1083	0.1244	0.1242	0.0164	0.0506	0.0773	0.0002	0.1164	0.0657	0.1250	0.0984	0.0347	0.0849	0.0849	0.0876	0.0821	0.1323	0.0837	0.0832	0.1300	0.1291	0.0217	0.1242	0.0703	0.0721	0.0006	0.1180	0.0959	0.1323	0.0803	0.0278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.44169e-26	0.81001	P	.	.	.	.	.	.	.	.	.	0.782	0.77883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153572	0.69602	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	Low	8.660054	0.97850	38	0.99660861544518997	0.77947	0.88917	0.49082	D	AEFI	0.504544	0.53606	D	0.849436995826206	0.89077	9.825315	0.649994004922376	0.78608	6.911039	0.00119960457971663	0.08324	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.91	2.84	0.32241	3.472000	0.52879	2.756000	0.34570	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2934:0.7066:0.0	13.604	0.61503	816	0.41767	.	AMPD1|BCAS2|BCAS2	Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs17602729	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	0.063948	0.055556	0.081522	0.049708	0.150000	0.060345	0.088415	0.034091	0.3333	5006.91	33	chr1	114693436	.	G	A	5006.91	.	AC=4;AF=0.333;AN=12;DP=306;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;QD=28.78;SOR=0.74	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2785,296,0	4	2	0	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3808.07	47	chr1	158668075	.	GA	G	3808.07	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.229;DP=303;ExcessHet=6.1542;FS=4.067;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.425;SOR=0.994	GT:AD:DP:GQ:PL	0/1:20,3:29:19:19,0,431	3	0	3	0
chr1	161214269	161214269	-	TGTGTG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTGTGTG;NM_001377300:c.*328_*329insTGTGTG;NM_001377301:c.*328_*329insTGTGTG;NM_004550:c.*76_*77insTGTGTG;NM_001166159:c.*328_*329insTGTGTG;NM_001377299:c.*76_*77insTGTGTG;NM_001377302:c.*119_*120insTGTGTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277891	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs10629771	0.1103	0.1169	0.1075	0.1129	0.1917	0.1097	0.1094	0.1877	0.1860	0.0491	0.1896	0.1549	0.1917	0.0897	0.1237	0.0977	0.1182	0.1378	0.1349	0.1345	0.1345	0.1353	0.2373	0.1333	0.1326	0.2260	0.2214	0.0698	0.1581	0.2006	0.1998	0.2373	0.1092	0.1747	0.1498	0.1315	0.1588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1745.11	22	chr1	161214269	.	C	CTGTGTG	1745.11	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=193;ExcessHet=6.1542;FS=4.229;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=0.423;SOR=0.2	GT:AD:DP:GQ:PL	0/1:7,9:18:99:379,0,262	3	0	3	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	1/1:0,43:43:99:1270,129,0	1	1	4	0
chr1	201065897	201065897	C	T	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon22:c.G2794A:p.V932M	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	823197	Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1	MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.0703315784143	0.0002	.	2.54e-05	9.942e-05	0	0.0001	0	1.533e-05	0	0	1.94e-05	3	154602	rs373701906	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0004	1.61e-05	1.416e-05	0.0002	0.0002	0.0002	0	0	0.0004	0	0	8.094e-06	0	2.319e-05	3.287e-05	3.283e-05	2.57e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.64	0.05293	T	0.575	0.08654	T	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.060487	0.999176	0.46249	D	1.54	0.38927	L	-4.85	0.98245	D	0.08	0.09297	N	0.434	0.47301	0.668	0.92767	D	0.890	0.96348	D	10	0.3013562	0.47678	T	0.070332	0.70974	D	0.557	0.81774	.	.	0.883532278865	0.88239	0.7274660362911376	0.72690	0.527081435524	0.50316	0.821050643921	0.85189	D	0.302559	0.74834	T	-0.0536183	0.43898	T	0.00521426	0.70674	D	0.206070688354174	0.20747	T	0.934906	0.75551	D	0.11460588	0.27055	0.13028768	0.31309	0.11460588	0.27054	0.13028768	0.31309	-2.673	0.07079	T	0.07059161214126837	0.02740	0.182	0.39545	B	.;.	.;.	5.239978	0.87964	29.4	0.79951484352974078	0.12976	0.92892	0.56803	D	AEFDBI	0.625397	0.60861	D	-0.0538462581921117	0.39431	2.325167	-0.0273004226895412	0.38486	2.268154	0.733166087904626	0.23085	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.2	3.27	0.36580	4.671000	0.61283	0.016000	0.13516	-0.234000	0.07639	1.000000	0.71638	0.001000	0.17328	0.978000	0.57271	0.1574:0.8426:0.0:0.0	13.533	0.61092	917	0.20147	Ion transport domain;Ion transport 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	1464.83	34	chr1	201065897	.	C	T	1464.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.286;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1475,0,1004	5	0	1	0
chr1	218405343	218405343	-	TTGTTG	intronic	TGFB2	.	.	.	Loeys-Dietz syndrome 4, Autosomal dominant	1	191	2	1	31	35	0.0103627	.	.	.	228353	not_specified|not_provided|Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0472	.	0.0836	0.0783	0.0990	0.1545	0.0769	0.0726	0.0925	0.0859	0.0001153	3	26028	rs10482769	0.0777	0.0728	0.0769	0.0784	0.1591	0.0773	0.0771	0.1557	0.1543	0.0825	0.1058	0.0828	0.1591	0.0759	0.1057	0.0716	0.0835	0.0963	0.0762	0.0768	0.0740	0.0785	0.1503	0.0750	0.0745	0.1415	0.1380	0.0758	0.0176	0.0912	0.0780	0.1503	0.0778	0.1207	0.0673	0.0856	0.0789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1891.99	36	chr1	218405343	.	T	TTTGTTG	1891.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.706;DP=273;ExcessHet=1.383;FS=11.208;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.34;ReadPosRankSum=0.231;SOR=0.113	GT:AD:DP:GQ:PL	0/1:21,19:40:99:733,0,826	3	0	3	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	1/1:0,122:122:99:3939,366,0	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	0/1:27,25:52:99:847,0,826	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	0/1:19,13:32:99:469,0,697	1	2	3	0
chr1	228211818	228211818	T	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon2:c.T35A:p.F12Y,OBSCN:NM_001271223:exon2:c.T35A:p.F12Y,OBSCN:NM_052843:exon2:c.T35A:p.F12Y	.	1	1505	16	0	0	16	0.00528751	.	.	.	513507	OBSCN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.669	0.0707848724061	0.0041	0.00179712	0.0049	0.0007	0.0019	0	0.0008	0.0075	0.0042	0.0017	0.0034088	527	154602	rs191837710	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0056	0.0055	0.0009	0.0025	0.0016	0	0.0016	0.0031	0.0057	0.0050	0.0010	0.0032	0.0032	0.0036	0.0028	0.0053	0.0030	0.0029	0.0049	0.0047	0.0012	0	0.0029	0.0012	0	0.0008	0.0102	0.0053	0.0052	0.0008	0.093	0.37750	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.997631	0.81001	D	3.065	0.87014	M	-0.71	0.72889	T	-1.75	0.44094	N	0.5	0.53269	0.295	0.87482	D	0.526	0.82341	D	10	0.015575349	0.00327	T	0.070785	0.71095	D	0.669	0.87722	.	.	0.69651886316	0.69390	0.6445437384992927	0.64389	2.2713391689	0.96273	0.861625611782	0.91350	D	0.076308	0.35387	T	-0.2814	0.10520	T	-0.174931	0.56991	T	0.0506998647465366	0.05623	T	0.891311	0.62583	D	0.74401104	0.80523	0.69784164	0.82204	0.8643993	0.88424	0.73808795	0.84521	-11.031	0.79828	D	.	.	0.869	0.80820	P	.;.;.;.;.	.;.;.;.;.	4.077041	0.60617	24.2	0.95827732297069612	0.27928	0.99581	0.97668	D	AEFDBI	0.937412	0.93515	D	0.688474183786011	0.78878	6.960894	0.553368141275699	0.71630	5.684482	0.999999999977286	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.76	4.76	0.60189	6.150000	0.71577	7.794000	0.68965	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.0:0.0:1.0	14.260	0.65626	506	0.75555	.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006067	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.007576	0.08333	650.83	95	chr1	228211818	.	T	A	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.249;DP=481;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.139;SOR=0.959	GT:AD:DP:GQ:PL	0/1:53,31:84:99:661,0,1379	5	0	1	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1390.15	57	chr1	236897645	.	CT	C	1390.15	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.077;DP=311;ExcessHet=3.1439;FS=1.201;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.717;SOR=0.796	GT:AD:DP:GQ:PL	0/1:8,26:38:99:579,0,106	3	0	3	0
chr1	237503466	237503466	G	A	exonic	RYR2	.	synonymous SNV	RYR2:NM_001035:exon22:c.G2574A:p.T858T	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	3	1512	7	0	0	7	0.00230947	.	.	.	196566	not_provided|Arrhythmogenic_right_ventricular_dysplasia_2|not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_1	MedGen:C3661900|MedGen:C1832931|MedGen:CN169374|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0002	0	8.643e-05	0	0	0.0003	0	6.058e-05	0.0001617	25	154602	rs367992907	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	8.961e-05	0.0001	0	0	0	0.0029	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.638e-05	0	0	0	0	0	0.0034	0.0003	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	3831.83	71	chr1	237503466	.	G	A	3831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=525;ExcessHet=0;FS=3.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.36;SOR=0.523	GT:AD:DP:GQ:PL	0/1:156,151:307:99:3842,0,3714	5	0	1	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	0/1:3,6:9:52:.:.:132,0,52:.	4	0	2	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2014.52	45	chr1	241500602	.	T	TGAGA	2014.52	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.15;DP=193;ExcessHet=0.7136;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=33.58;ReadPosRankSum=0.489;SOR=1.015	GT:AD:DP:GQ:PL	0/1:1,7:8:22:256,0,22	2	0	3	1
chr2	21001981	21001981	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G13441A:p.A4481T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1400	113	8	0	129	0.0440423	.	.	.	133868	Cardiovascular_phenotype|not_provided|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0285	0.0141773	0.0241	0.0057	0.0158	0.0002	0.0203	0.0330	0.0309	0.0187	0.0248703	3845	154602	rs1801695	0.0317	0.0317	0.0317	0.0317	0.0614	0.0315	0.0314	0.0561	0.0540	0.0062	0.0195	0.0352	0.0001	0.0215	0.0614	0.0354	0.0287	0.0206	0.0260	0.0260	0.0261	0.0259	0.0406	0.0253	0.0250	0.0380	0.0369	0.0062	0.0802	0.0406	0.0366	0	0.0238	0.0578	0.0359	0.0322	0.0205	0.148	0.24857	T	0.127	0.35082	T	.	.	.	.	.	.	0.681940	0.10251	N	0.840251	1	0.08975	N	.	.	.	1.19	0.37578	T	-1.3	0.32590	N	0.02	0.00308	-1.0802	0.07310	T	0.013	0.05033	T	10	0.0020777583	0.00030	T	.	.	.	0.033	0.08068	.	.	.	.	0.09369258253249489	0.09301	0.0364196431978	0.03852	0.293061554432	0.09370	T	.	.	.	-0.628348	0.00098	T	-0.649592	0.08983	T	0.00430711358315662	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13503	B	.	.	0.198878	0.05841	2.280	0.98444457265597174	0.41553	0.41293	0.26625	N	AEFBCI	0.409012	0.48046	N	-0.834480860197701	0.12435	0.6061245	-0.81574845949859	0.14113	0.7358027	0.88503607229943	0.25708	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	-0.996	0.09696	0.190000	0.16864	-1.438000	0.05439	0.549000	0.26987	0.969000	0.34210	0.000000	0.08366	0.092000	0.17891	0.4201:0.2784:0.0:0.3014	5.082	0.13995	861	0.33516	.	APOB	Adipose_Subcutaneous	.	.	.	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	0.044814	0.020202	0.058424	0.049708	0.000000	0.060345	0.054878	0.015152	0.1667	2165.06	34	chr2	21001981	.	C	T	2165.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.393;DP=328;ExcessHet=0.4139;FS=2.557;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.942;SOR=0.618	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1261,0,1834	4	0	2	0
chr2	27378156	27378156	A	G	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon3:c.T829C:p.C277R,ZNF513:NM_144631:exon4:c.T1015C:p.C339R	.	0	1519	3	0	0	3	0.000986518	.	.	.	15067	not_provided|Retinitis_pigmentosa_58	MedGen:C3661900|MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.456	0.00885542625113	.	0.000199681	0.0002	0	0	0	0	3.026e-05	0	0.0016	0.000194	30	154602	rs267607182	0.0001	0.0001	7.763e-05	0.0001	0.0011	9.539e-05	9.02e-05	0.0010	0.0009	0	0	0	0	0	0	5.306e-05	3.313e-05	0.0011	6.569e-05	6.563e-05	3.856e-05	9.407e-05	0.0006	3.516e-05	2.616e-05	0.0002	9.011e-05	2.407e-05	0	0.0001	0	0	0	0	5.882e-05	0	0.0006	0.002	0.72154	D	0.036	0.52060	D	0.998	0.73220	D	0.99	0.78936	D	0.000026	0.55875	D	0.000000	0.999978	0.53665	D	1.935	0.51832	L	3.27	0.07024	T	-4.35	0.77143	D	0.881	0.87917	-1.1707	0.00526	T	0.045	0.19152	T	10	0.26555294	0.44052	T	0.008855	0.23342	T	0.456	0.75483	0.465	0.53566	0.588054354842	0.58480	0.9055128563210412	0.90524	0.754250314739	0.63932	0.824181556702	0.85669	D	0.194869	0.55078	T	-0.108768	0.34972	T	0.0304533	0.72306	D	0.32297828533731	0.25942	T	0.675932	0.28448	T	0.84334934	0.86848	0.78957826	0.87619	0.8293228	0.85857	0.7804255	0.87056	-11.071	0.80046	D	.	.	0.959	0.87935	P	.;.	.;.	4.366564	0.67198	25.1	0.99272101969728277	0.57593	0.94664	0.61908	D	AEFDGBHCI	0.767518	0.70336	D	0.62580063200783	0.74810	6.196529	0.626077132717073	0.76840	6.565644	0.999999999764369	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.99	4.99	0.65942	3.351000	0.51947	11.154000	0.87438	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8288:0.1711:0.0:0.0	9.913	0.40586	334	0.86273	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1793.83	35	chr2	27378156	.	A	G	1793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.162;DP=323;ExcessHet=0;FS=1.347;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.62;SOR=0.874	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1804,0,2029	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	0/1:57,46:103:99:1236,0,1705	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	0/1:16,18:37:99:396,0,309	2	0	4	0
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	251.17	3	chr2	113063078	.	A	T	251.17	.	AC=6;AF=1;AN=6;DP=10;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=31.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0	0	3	0	3
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	257.17	3	chr2	113063095	.	A	G	257.17	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=32.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:84,6,0	0	3	0	3
chr2	113063237	113063237	C	G	UTR3	IL36RN	NM_173170:c.*560C>G;NM_012275:c.*560C>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1358	52	16	96	0	208	0.666667	.	.	.	283621	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	119.38	2	chr2	113063237	.	C	G	119.38	.	AC=4;AF=1;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=29.84;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,2:2:6:78,6,0	0	2	0	4
chr2	151491777	151491777	T	G	splicing	NEB	NM_001164507:exon179:c.25058-2A>C;NM_001271208:exon180:c.25163-2A>C;NM_004543:exon146:c.19454-2A>C;NM_001164508:exon179:c.25058-2A>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	1.0000	0.928	YES	541397	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866309952	2.104e-06	2.052e-06	0	4.249e-06	1.231e-05	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.374e-05	1.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.387932	0.90274	31	0.99442305612794568	0.64820	0.99672	0.98539	D	AEFDBI	.	.	.	1.15103817244404	0.98972	20.09625	1.00898274462746	0.98793	19.40104	0.999999999597429	0.74766	0.078448	0.01964	0	0.084543	0.02171	0	0.083675	0.02720	0	0.092715	0.02821	0	0.980675	0.86007	5.63	5.63	0.86108	7.961000	0.87447	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.490	0.75335	799	0.44747	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	814.83	37	chr2	151491777	.	T	G	814.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.091;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,32:61:99:825,0,710	5	0	1	0
chr2	151508004	151508004	C	G	splicing	NEB	NM_001164507:exon162:c.23451+1G>C;NM_001271208:exon163:c.23556+1G>C;NM_004543:exon134:c.18312+1G>C;NM_001164508:exon162:c.23451+1G>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	2	1519	1	0	0	1	0.000329056	1.0000	0.936	YES	541536	Arthrogryposis_multiplex_congenita_6|Nemaline_myopathy_2	MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011425121	3.453e-06	3.42e-06	1.372e-06	5.561e-06	1.189e-05	1.01e-06	7.4e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.812e-06	3.341e-05	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.979987	0.94247	34	0.99258745494189093	0.57121	0.98271	0.81130	D	AEFBI	.	.	.	1.15333763124874	0.99006	20.24027	0.990313819073262	0.98431	18.26055	0.999999997913322	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.987926	0.96525	4.92	4.92	0.64147	7.374000	0.78887	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.012	0.92856	877	0.30165	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	335.83	37	chr2	151508004	.	C	G	335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=204;ExcessHet=0;FS=1.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.481;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,13:31:99:346,0,468	5	0	1	0
chr2	151678027	151678027	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon33:c.C3416T:p.T1139M,NEB:NM_001164508:exon33:c.C3416T:p.T1139M,NEB:NM_001271208:exon33:c.C3416T:p.T1139M,NEB:NM_004543:exon33:c.C3416T:p.T1139M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	282180	not_specified|Inborn_genetic_diseases|Nemaline_myopathy_2|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.123	0.0383930926462	.	0.000599042	9.95e-05	0.0001	0.0003	0	0	7.502e-05	0	0.0002	0.0001035	16	154602	rs181244403	8.278e-05	8.277e-05	8.849e-05	7.702e-05	0.0002	7.07e-05	6.619e-05	9.791e-05	7.838e-05	2.987e-05	0.0002	0	0	0	0	8.454e-05	6.626e-05	0.0002	0.0001	0.0001	0.0001	8.061e-05	0.0002	6.51e-05	5.322e-05	9.049e-05	7.013e-05	4.817e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.014	0.53172	D	0.0	0.92824	D	0.992	0.64738	D	0.748	0.55971	P	0.000000	0.84330	D	0.052668	0.999859	0.49910	D	1.95	0.52479	M	1.51	0.30937	T	-2.56	0.56301	D	0.674	0.68777	-1.0600	0.11756	T	0.099	0.36882	T	10	0.4306787	0.57469	T	0.038393	0.58198	D	0.123	0.34020	.	.	0.463928626847	0.46019	0.49322904400404616	0.49243	0.306086603298	0.32911	0.351074397564	0.18080	T	0.138749	0.75369	T	-0.365641	0.03821	T	-0.470845	0.25425	T	0.338794052600861	0.26576	T	0.910209	0.74506	D	0.1340983	0.31169	0.1260299	0.30359	0.1340983	0.31168	0.1260299	0.30358	-5.628	0.43048	T	.	.	0.076	0.05935	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.084850	0.41513	21.4	0.99852292004536469	0.93191	0.93921	0.59578	D	AEFBI	0.438130	0.49765	N	0.338456413757822	0.58134	3.98387	0.327691200861931	0.57172	3.882171	0.999714208412606	0.42101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	4.71	0.59010	3.931000	0.56242	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.1472:0.0:0.8528:0.0	11.603	0.50272	861	0.33516	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2154.83	33	chr2	151678027	.	G	A	2154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=329;ExcessHet=0;FS=2.003;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.155;SOR=0.543	GT:AD:DP:GQ:PL	0/1:81,78:159:99:2165,0,2028	5	0	1	0
chr2	169289151	169289151	C	T	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	0	1386	130	6	0	142	0.0487303	0	0.008	.	134991	not_specified|not_provided|Donnai-Barrow_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.0117812	0.0116	0.0015	0.0086	0.0001	0.0021	0.0088	0.0166	0.0410	0.0107955	1669	154602	rs144147038	0.0097	0.0097	0.0085	0.0109	0.0572	0.0096	0.0095	0.0521	0.0502	0.0016	0.0078	0.0287	2.52e-05	0.0022	0.0572	0.0076	0.0120	0.0401	0.0073	0.0073	0.0066	0.0080	0.0360	0.0069	0.0068	0.0316	0.0299	0.0015	0	0.0076	0.0311	0.0002	0.0030	0.0544	0.0085	0.0099	0.0360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	872.83	41	chr2	169289151	.	C	T	872.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=260;ExcessHet=0;FS=3.091;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.862;SOR=1.09	GT:AD:DP:GQ:PL	0/1:43,36:79:99:883,0,957	5	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2416.43	11	chr2	169294717	.	TAAA	T	2416.43	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.21;DP=335;ExcessHet=0;FS=7.732;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=25.71;ReadPosRankSum=-0.145;SOR=0.829	GT:AD:DP:GQ:PL	1/0:0,9:17:83:508,122,83	2	0	4	0
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G,PJVK:NM_001369912:exon6:c.C793G:p.R265G,PJVK:NM_001042702:exon7:c.C793G:p.R265G,PJVK:NM_001353775:exon7:c.C802G:p.R268G,PJVK:NM_001353777:exon7:c.C316G:p.R106G,PJVK:NM_001353778:exon7:c.C316G:p.R106G	.	0	1161	119	13	229	374	0.0587758	.	.	.	53039	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59|not_specified	MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	.	0.0393371	0.0553	0.0391	0.0314	0.0049	0.0783	0.0665	0.0667	0.0532	0.0519463	8031	154602	rs17304212	0.0653	0.0654	0.0653	0.0653	0.0700	0.0649	0.0648	0.0696	0.0694	0.0385	0.0339	0.0512	0.0082	0.0791	0.0626	0.0700	0.0614	0.0565	0.0558	0.0558	0.0556	0.0559	0.0682	0.0548	0.0544	0.0666	0.0659	0.0400	0.0099	0.0433	0.0510	0.0044	0.0865	0.0544	0.0682	0.0610	0.0542	0.035	0.43708	D	0.212	0.26549	T	0.268	0.31720	B	0.074	0.28220	B	0.000358	0.45440	U	0.089808	0.965609	0.25931	N	0.69	0.16971	N	0.21	0.59983	T	0.38	0.03579	N	0.203	0.22486	-1.0725	0.08873	T	0.014	0.05705	T	10	0.0028193295	0.00045	T	.	.	.	0.176	0.44373	.	.	.	.	0.408683402898632	0.40784	0.209859520089	0.23458	0.286527961493	0.08419	T	0.047728	0.27809	T	-0.418119	0.01759	T	-0.322324	0.42320	T	0.010165578161089	0.00137	T	0.811219	0.46271	T	0.11662337	0.27505	0.11295493	0.27256	0.10953706	0.25895	0.12079491	0.29148	-3.401	0.15070	T	0.14916472889405896	0.17422	0.096	0.25914	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.258701	0.44559	22.0	0.99623633323306127	0.75594	0.96974	0.71966	D	AEFI	0.604832	0.59578	D	0.0824565520564724	0.45644	2.81763	0.272322233914736	0.53928	3.559673	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	.	.	.	.	rs17304212	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	6598.69	106	chr2	178461008	.	C	G	6598.69	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.85;DP=473;ExcessHet=0.7136;FS=0.825;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.557;SOR=0.748	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1380,0,1308	2	0	4	0
chr2	178531191	178531191	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G78229A:p.E26077K,TTN:NM_133432:exon187:c.G78604A:p.E26202K,TTN:NM_133437:exon187:c.G78805A:p.E26269K,TTN:NM_133378:exon307:c.G97720A:p.E32574K,TTN:NM_001256850:exon308:c.G100501A:p.E33501K,TTN:NM_001267550:exon358:c.G105424A:p.E35142K	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	0	1521	1	0	0	1	0.000328623	.	.	YES	655179	not_provided|not_specified|Cardiomyopathy	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	0.0213646548041	.	.	4.968e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs765274398	2.189e-05	2.189e-05	2.45e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	1.627e-05	1.382e-05	2.987e-05	0	0	0	0	0.0002	2.338e-05	1.656e-05	3.478e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	0.0001	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.015	0.52492	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999999	0.81001	D	2.035	0.55589	M	0.81	0.48460	T	-2.93	0.61284	D	0.523	0.78641	-0.4632	0.69961	T	0.293	0.66470	T	9	0.4202005	0.56812	T	0.021365	0.44128	T	0.405	0.71791	0.7	0.83684	0.304435445954	0.30045	.	.	0.489131336793	0.47684	0.605935931206	0.53742	T	.	.	.	-0.154445	0.27618	T	-0.278098	0.46998	T	0.364415984976255	0.27581	T	0.969903	0.89155	D	.	.	.	.	.	.	.	.	-6.544	0.50625	T	.	.	0.3	0.52985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.672559	0.34844	19.74	0.96266567924817903	0.29234	0.96561	0.69756	D	AEFGBHCI	0.855792	0.77294	D	0.666093363582971	0.77414	6.67007	0.622979332758715	0.76612	6.52327	1.0	0.98316	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.1	5.1	0.68917	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	18.501	0.90831	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|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	.	.	.	.	.	.	.	.	0.1667	4778.06	93	chr2	178531191	.	C	T	4778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=567;ExcessHet=0.4139;FS=4.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.91;SOR=0.923	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2207,0,1693	4	0	2	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	577.49	69	chr2	178535858	.	GA	G	577.49	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.057;DP=615;ExcessHet=6.1542;FS=1.248;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=-0.018;SOR=0.575	GT:AD:DP:GQ:PL	0/1:65,16:88:99:179,0,1406	1	0	5	0
chr2	206149934	206149935	AA	-	intronic	NDUFS1	.	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	284922	Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_provided	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0255	0.0055	0.0078	0.0008	0.0664	0.0413	0.0204	0.0027	0.0001153	3	26028	rs568965659	0.1395	0.1472	0.1407	0.1385	0.1485	0.1386	0.1383	0.1474	0.1470	0.1303	0.1138	0.1421	0.1300	0.1448	0.1462	0.1485	0.1524	0.0889	0.4273	0.4761	0.4334	0.4197	0.4651	0.4231	0.4213	0.4563	0.4528	0.4651	0.3571	0.4514	0.4529	0.2508	0.3548	0.3286	0.4235	0.4622	0.2782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	356.56	14	chr2	206149933	.	TAA	T	356.56	.	AC=3;AF=0.75;AN=4;DP=148;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=60;QD=25.47;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,5:5:15:135,15,0	0	1	1	4
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	136.17	26	chr2	222201817	.	C	CA	136.17	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.735;DP=131;ExcessHet=3.1439;FS=5.302;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.086;SOR=0.193	GT:AD:DP:GQ:PL	0/1:19,4:23:30:30,0,384	2	0	4	0
chr3	10289773	10289773	G	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001302825:exon3:c.C214A:p.L72M,GHRL:NM_001134941:exon4:c.C211A:p.L71M,GHRL:NM_001302822:exon4:c.C214A:p.L72M,GHRL:NM_001302823:exon4:c.C211A:p.L71M,GHRL:NM_001302824:exon4:c.C214A:p.L72M,GHRL:NM_016362:exon4:c.C214A:p.L72M,GHRL:NM_001302821:exon5:c.C214A:p.L72M	.	376	1002	128	16	0	160	0.0739372	.	.	.	20101	not_provided|Inherited_obesity|Metabolic_syndrome,_susceptibility_to|Obesity,_age_at_onset_of|Obesity	MedGen:C3661900|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C2676079|MedGen:C4016925|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0588	0.0832668	0.0856	0.0200	0.0399	0.1930	0.1250	0.0847	0.1134	0.0889	0.0837505	12948	154602	rs696217	0.0829	0.0833	0.0823	0.0834	0.1932	0.0825	0.0823	0.1896	0.1881	0.0185	0.0506	0.1274	0.1932	0.1238	0.0611	0.0785	0.0865	0.0892	0.0727	0.0730	0.0696	0.0759	0.1951	0.0716	0.0711	0.1850	0.1810	0.0217	0.0352	0.0728	0.1269	0.1951	0.1366	0.0816	0.0810	0.0705	0.0913	0.112	0.51853	T	0.191	0.59732	T	1.0	0.90584	D	0.999	0.92359	D	0.067916	0.21708	N	0.330746	0.982043	0.58761	P	2.36	0.67893	M	1.38	0.60734	T	-0.42	0.26843	N	0.377	0.43706	-1.0407	0.17101	T	0.001	0.00255	T	9	0.0015681088	0.00018	T	.	.	.	0.124	0.34239	.	.	.	.	0.1238158666168449	0.12307	0.0539738033869	0.05963	0.447462975979	0.31598	T	0.192568	0.54777	T	-0.475863	0.00782	T	-0.3125	0.43390	T	0.024983608988191	0.01270	T	0.712529	0.42343	T	0.102517754	0.24226	0.08301495	0.18992	0.102517754	0.24226	0.08301495	0.18992	-4.801	0.36808	T	0.27672248696563045	0.37134	0.160	0.36012	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.498192	0.48928	22.7	0.99158779589247237	0.54043	0.74171	0.36280	D	AEFDBCI	0.170422	0.29733	N	0.386817246144049	0.60708	4.262665	0.260991158776893	0.53276	3.497412	0.998737675853913	0.37559	0.533608	0.22052	0	0.573116	0.20632	0	0.536957	0.11973	0	0.638833	0.57524	0	.	.	4.34	3.44	0.38486	2.297000	0.43254	5.210000	0.47963	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.486000	0.28701	0.1118:0.0:0.8882:0.0	8.378	0.31614	715	0.56137	Motilin/ghrelin-associated peptide;.;.;.;.;.;Motilin/ghrelin-associated peptide;Motilin/ghrelin-associated peptide	LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	IRAK2|IRAK2|GHRL	Adipose_Subcutaneous|Small_Intestine_Terminal_Ileum|Whole_Blood	rs696217	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.076032	0.095960	0.061141	0.064327	0.050000	0.077586	0.094512	0.064394	0.08333	793.83	37	chr3	10289773	.	G	T	793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.888;DP=281;ExcessHet=0;FS=3.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=0.484;SOR=1.101	GT:AD:DP:GQ:PL	0/1:65,37:102:99:804,0,1719	5	0	1	0
chr3	11358545	11358545	T	C	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon12:c.T1295C:p.V432A,ATG7:NM_001349236:exon12:c.T1295C:p.V432A,ATG7:NM_001349237:exon12:c.T1253C:p.V418A,ATG7:NM_001349238:exon12:c.T479C:p.V160A,ATG7:NM_001136031:exon13:c.T1412C:p.V471A,ATG7:NM_006395:exon13:c.T1412C:p.V471A,ATG7:NM_001349233:exon14:c.T1412C:p.V471A,ATG7:NM_001349234:exon14:c.T1412C:p.V471A,ATG7:NM_001349235:exon14:c.T1412C:p.V471A,ATG7:NM_001349232:exon15:c.T1412C:p.V471A	.	427	967	124	4	0	132	0.0638916	.	.	YES	1668940	not_specified|Spinocerebellar_ataxia,_autosomal_recessive_31|NAFLD1	MedGen:CN169374|MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422|MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.227	.	0.0424	0.0299521	0.0326	0.0476	0.0223	0.0002	0.0301	0.0341	0.0275	0.0428	0.0325804	5037	154602	rs36117895	0.0350	0.0350	0.0343	0.0356	0.0680	0.0347	0.0346	0.0624	0.0602	0.0534	0.0251	0.0302	5.038e-05	0.0249	0.0680	0.0359	0.0360	0.0418	0.0383	0.0384	0.0389	0.0377	0.0509	0.0375	0.0372	0.0491	0.0484	0.0509	0.1140	0.0354	0.0282	0.0002	0.0234	0.0374	0.0359	0.0507	0.0344	0.017	0.51248	D	0.02	0.76473	D	0.386	0.44757	B	0.184	0.49194	B	0.017610	0.27680	N	0.411116	0.994457	0.23514	N	3.11	0.87757	M	0.52	0.55266	T	-3.8	0.71762	D	0.367	0.41261	-0.8480	0.52106	T	0.065	0.26807	T	10	0.0064888	0.00147	T	.	.	.	0.227	0.52620	.	.	.	.	0.8308755158250807	0.83046	0.776489147222	0.65059	0.280699789524	0.07590	T	0.526577	0.83540	D	-0.397403	0.02408	T	-0.305633	0.44127	T	0.0560138831240717	0.06526	T	0.505249	0.16214	T	0.572433	0.71194	0.52844167	0.72754	0.572433	0.71195	0.52844167	0.72755	-11.564	0.84047	D	.	.	0.499	0.67492	A	.;.;.	.;.;.	3.980175	0.58499	24.0	0.99846678686946244	0.92663	0.99383	0.95317	D	AEFDBI	0.797792	0.72452	D	0.505377523528007	0.67409	5.077558	0.526737595570002	0.69796	5.411632	0.999999999999851	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.510000	0.80594	4.201000	0.42469	0.665000	0.62972	0.989000	0.36753	0.998000	0.33993	0.899000	0.43558	0.0:0.0:0.0:1.0	16.122	0.81179	660	0.61921	.;.;THIF-type NAD/FAD binding fold	ATG7|ATG7|ATG7|ATG7	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Thyroid	.	.	rs36117895	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	0.059919	0.050505	0.058424	0.078947	0.000000	0.094828	0.051829	0.041667	0.08333	1015.83	36	chr3	11358545	.	T	C	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.102;DP=264;ExcessHet=0;FS=3.943;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.24;SOR=0.469	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1026,0,1075	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	0/1:11,9:20:99:266,0,327	2	0	4	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1551.9	15	chr3	27721936	.	G	GCGGCGC	1551.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.241;DP=100;ExcessHet=0.1336;FS=1.246;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=28.74;ReadPosRankSum=1.93;SOR=0.859	GT:AD:DP:GQ:PL	0/1:9,21:30:99:764,0,312	3	1	2	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	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T,ZMYND10:NM_015896:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	393851	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|ZMYND10-related_disorder	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	1611.06	36	chr3	50343823	.	C	T	1611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=297;ExcessHet=0.4139;FS=3.096;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.788;SOR=1.013	GT:AD:DP:GQ:PL	0/1:50,38:88:99:924,0,1214	4	0	2	0
chr3	69004436	69004436	T	A	exonic	EOGT	.	stopgain	EOGT:NM_001278689:exon8:c.A562T:p.K188X,EOGT:NM_173654:exon8:c.A562T:p.K188X	Adams-Oliver syndrome 4, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	438613	Adams-Oliver_syndrome_4|not_provided	MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0078	0.00758786	0.0027	0.0271	0.0011	0	0	0.0001	0.0022	0.0016	0.0024773	383	154602	rs116711473	0.0010	0.0010	0.0010	0.0009	0.0299	0.0009	0.0009	0.0284	0.0278	0.0299	0.0019	0	0	0	0.0019	0.0001	0.0015	0.0016	0.0084	0.0084	0.0085	0.0082	0.0284	0.0080	0.0078	0.0271	0.0265	0.0284	0	0.0035	0	0	0	0	0.0002	0.0057	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.386420	0.13317	N	0.761271	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.452	0.48963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0978111	0.36788	T	0.109037	0.77509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	6.331190	0.95028	34	0.89829806158255876	0.19139	0.85775	0.44945	D	AEFBI	0.166487	0.29307	N	-0.393130220026878	0.25713	1.397882	-0.615464800025668	0.19096	1.023046	0.999615589386697	0.40981	0.706548	0.73137	0	0.708844	0.79440	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.61	-0.9	0.10008	0.862000	0.27553	-0.138000	0.11547	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.726000	0.34967	0.0:0.2991:0.1023:0.5986	8.125	0.30153	589	0.68969	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2022.83	37	chr3	69004436	.	T	A	2022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.706;DP=278;ExcessHet=0;FS=1.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.73;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,52:99:99:0|1:69004435_T_A:2033,0,1806:69004435	5	0	1	0
chr3	121233639	121233639	G	A	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348343:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348344:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348345:exon12:c.G1135A:p.V379M,STXBP5L:NM_014980:exon12:c.G1135A:p.V379M	.	487	1026	7	2	0	11	0.00533204	.	.	.	622325	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0206573945077	0.0063	0.00339457	0.0057	0.0015	0.0012	0.0001	0.0017	0.0092	0.0011	0.0022	0.0057438	888	154602	rs61996323	0.0078	0.0079	0.0080	0.0077	0.0093	0.0077	0.0077	0.0092	0.0091	0.0018	0.0021	0.0051	2.529e-05	0.0029	0.0077	0.0093	0.0065	0.0023	0.0054	0.0054	0.0056	0.0053	0.0092	0.0051	0.0050	0.0086	0.0084	0.0017	0	0.0039	0.0049	0	0.0025	0.0136	0.0092	0.0071	0.0017	0.022	0.48642	D	0.012	0.65728	D	0.962	0.59675	D	0.713	0.54860	P	0.000190	0.48115	D	0.138974	0.99901	0.45878	D	2.405	0.69568	M	1.43	0.50192	T	-2.27	0.52289	N	0.646	0.65758	-0.8568	0.51491	T	0.150	0.47699	T	10	0.010139585	0.00227	T	0.020657	0.43298	T	0.237	0.54074	.	.	0.321697908245	0.31786	0.5965482819491511	0.59584	0.618235351031	0.56224	0.521119534969	0.41783	T	0.057566	0.30601	T	-0.346112	0.04975	T	-0.260547	0.48770	T	0.0327383321700659	0.02429	T	0.966703	0.87848	D	0.14155143	0.32612	0.19203654	0.42695	0.14155143	0.32611	0.19203654	0.42694	-9.446	0.70523	D	.	.	0.376	0.61260	A	.;.;.;.;.;.	.;.;.;.;.;.	4.892045	0.80333	27.3	0.99630955753262607	0.76020	0.98847	0.87641	D	AEFI	0.844599	0.76155	D	0.500994704409624	0.67147	5.043283	0.455697244047954	0.65083	4.779137	0.998650680048234	0.37392	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.449000	0.96765	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	17.167	0.86698	292	0.88363	Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.008152	0.014706	0.000000	0.008621	0.009146	0.003788	0.08333	831.83	34	chr3	121233639	.	G	A	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=233;ExcessHet=0;FS=3.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.031;SOR=1.308	GT:AD:DP:GQ:PL	0/1:25,34:59:99:842,0,522	5	0	1	0
chr3	123664192	123664192	C	T	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_001321309:exon22:c.G3370A:p.A1124T,MYLK:NM_053026:exon22:c.G3691A:p.A1231T,MYLK:NM_053028:exon22:c.G3691A:p.A1231T,MYLK:NM_053025:exon23:c.G3898A:p.A1300T,MYLK:NM_053027:exon23:c.G3898A:p.A1300T	Aortic aneurysm, familial thoracic 7, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	292143	not_provided|MYLK-related_disorder|Connective_tissue_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_7|not_specified|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MedGen:CN169374|MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.0155191224276	0.0005	0.00139776	0.0005	0.0012	0.0012	0.0001	0	0.0004	0.0011	0.0001	0.0004269	66	154602	rs149530842	0.0003	0.0003	0.0003	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	0.0009	0.0015	0.0004	0.0002	0	0.0024	0.0002	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0011	0	0.0010	0.0006	0	0	0.0034	0.0002	0.0024	0	0.434	0.11015	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.999997	0.08975	N	0.385	0.12166	N	-0.5	0.70480	T	-1.01	0.42957	N	0.311	0.35088	-0.9689	0.37427	T	0.186	0.53526	T	9	0.012942165	0.00276	T	0.015519	0.36297	T	0.044	0.11924	.	.	0.686144780852	0.68346	0.2795314669927721	0.27866	0.353807639457	0.37175	0.321122944355	0.13591	T	0.229573	0.69546	T	-0.393942	0.02536	T	-0.357661	0.38323	T	0.0108711017629969	0.00155	T	0.889211	0.62701	D	0.06057271	0.12446	0.07655974	0.16970	0.06057271	0.12445	0.07655974	0.16970	-8.977	0.68013	D	0.07864801712547946	0.03798	0.310	0.53755	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.140922	0.15283	11.73	0.97961082373753172	0.37180	0.06250	0.12240	N	AEFDGBIJ	0.102258	0.20518	N	-0.697785081741722	0.16084	0.8163969	-0.632777627025141	0.18654	0.9974163	0.999996069193786	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	4.86	2.68	0.30839	0.916000	0.28273	1.383000	0.26051	0.599000	0.40250	0.364000	0.25875	0.791000	0.26863	0.126000	0.19410	0.0:0.7317:0.0:0.2683	8.985	0.35151	541	0.72942	.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	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	0.005539	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	379.83	34	chr3	123664192	.	C	T	379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=209;ExcessHet=0;FS=1.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.936;SOR=0.914	GT:AD:DP:GQ:PL	0/1:20,18:38:99:390,0,423	5	0	1	0
chr3	138946163	138946163	C	T	exonic	FOXL2	.	nonsynonymous SNV	FOXL2:NM_023067:exon1:c.G560A:p.G187D	Blepharophimosis, epicanthus inversus, and ptosis, type 1, Autosomal dominant;Blepharophimosis, epicanthus inversus, and ptosis, type 2, Autosomal dominant;Premature ovarian failure 3	.	.	.	.	.	.	.	.	.	YES	19910	See_cases|not_provided|Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome|Premature_ovarian_failure_3	.|MedGen:C3661900|MONDO:MONDO:0007201,MedGen:C0220663,OMIM:110100,Orphanet:126|MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.692	0.960872989486	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs121908359	3.527e-05	3.831e-05	2.517e-05	4.564e-05	0.0002	2.718e-05	2.435e-05	2.19e-05	1.874e-05	3.734e-05	3.7e-05	4.272e-05	0	0	0.0002	3.027e-05	0.0002	0	1.317e-05	1.313e-05	0	2.695e-05	1.473e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.473e-05	0	0	0.001	0.78490	D	0.025	0.56192	D	1.0	0.90584	D	0.922	0.65739	D	0.033075	0.24945	U	0.435454	1	0.81001	A	1.445	0.36358	L	-3.5	0.94658	D	-0.89	0.24026	N	0.621	0.63628	0.842	0.94924	D	0.843	0.94749	D	9	0.9485167	0.94181	D	0.960873	0.99744	D	0.692	0.88820	0.799	0.91874	0.898211209325	0.89719	0.7236247439379424	0.72306	.	.	0.96209102869	0.99930	D	0.289713	0.66249	T	0.146451	0.68935	D	0.155358	0.80521	D	0.481686443090439	0.31959	T	0.906609	0.67067	D	0.5224177	0.68398	0.57307255	0.75273	0.47156936	0.65387	0.6638628	0.80296	-13.421	0.91023	D	0.19982762936751616	0.26503	0.819	0.78186	P	.;.	.;.	4.652816	0.74191	26.1	0.99828072024013936	0.91026	0.97937	0.78264	D	AEFDBHCI	0.761153	0.69896	D	0.49088755991824	0.66556	4.965503	0.45650116627469	0.65137	4.785726	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	3.73	3.73	0.41982	4.897000	0.62918	4.236000	0.42680	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.858	0.78780	847	0.35998	.;.	.	.	.	.	.	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	0.002287	0.005882	0.005525	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	381.83	41	chr3	138946163	.	C	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.454;DP=162;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=0.323;SOR=1.112	GT:AD:DP:GQ:PL	0/1:8,15:23:99:392,0,182	5	0	1	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293180	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	10684.6	34	chr3	149141200	.	C	CTT	10684.6	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.965;DP=1591;ExcessHet=6.1542;FS=6.101;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.02;SOR=1.099	GT:AD:DP:GQ:PL	0/1:177,97:317:99:2682,0,5676	5	0	1	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.25	3841.0	40	chr3	170998041	.	G	A	3841.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.711;DP=348;ExcessHet=0;FS=3.119;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.942;SOR=0.462	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2694,264,0	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	0/1:164,137:301:99:3453,0,4683	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	0/1:115,86:201:99:2234,0,2848	0	3	3	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8564.51	106	chr4	9783510	.	T	C	8564.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.62;DP=423;ExcessHet=0.095;FS=11.012;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=1.21;QD=24.82;ReadPosRankSum=-0.878;SOR=1.273	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1272,0,1283	2	2	2	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	23731.2	162	chr4	38797027	.	C	A	23731.2	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-2.965;DP=912;ExcessHet=0.4139;FS=0.699;MLEAC=10;MLEAF=0.833;MQ=53.81;MQRankSum=-7.152;QD=26.78;ReadPosRankSum=1.48;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,172:172:99:5705,517,0	0	4	2	0
chr4	47943400	47943400	T	C	exonic	CNGA1	.	synonymous SNV	CNGA1:NM_001142564:exon6:c.A300G:p.E100E,CNGA1:NM_000087:exon7:c.A300G:p.E100E,CNGA1:NM_001379270:exon7:c.A300G:p.E100E	Retinitis pigmentosa 49	74	1402	39	7	0	53	0.0185509	.	.	.	195551	not_specified|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_49	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013405,MedGen:C3151059,OMIM:613756,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0133	0.00838658	0.0164	0.0042	0.0073	0	0.0361	0.0224	0.0385	0.0104	0.0050517	781	154602	rs76061451	0.0163	0.0158	0.0163	0.0163	0.0279	0.0161	0.0160	0.0240	0.0226	0.0035	0.0097	0.0123	0	0.0279	0.0279	0.0172	0.0160	0.0108	0.0145	0.0146	0.0142	0.0148	0.0217	0.0140	0.0138	0.0208	0.0204	0.0024	0.0197	0.0108	0.0084	0	0.0277	0.0340	0.0217	0.0204	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.036477	0.042553	0.029762	0.030928	0.000000	0.142857	0.032407	0.007692	0.08333	341.83	15	chr4	47943400	.	T	C	341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.359;SOR=1.061	GT:AD:DP:GQ:PL	0/1:13,13:26:99:352,0,276	5	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1099.99	131	chr5	256319	.	ACT	A	1099.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.205;DP=517;ExcessHet=1.383;FS=1.165;MLEAC=3;MLEAF=0.25;MQ=57.6;MQRankSum=-11.08;QD=2.94;ReadPosRankSum=1.05;SOR=0.786	GT:AD:DP:GQ:PL	0/1:101,17:118:99:409,0,4181	3	0	3	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	0/1:10,7:23:99:232,0,245	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	1/1:0,103:103:99:3008,309,0	0	4	2	0
chr5	172350490	172350490	C	T	exonic	SH3PXD2B	.	synonymous SNV	SH3PXD2B:NM_001017995:exon10:c.G885A:p.P295P,SH3PXD2B:NM_001308175:exon10:c.G885A:p.P295P	Frank-ter Haar syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	296928	not_provided|Frank-Ter_Haar_syndrome	MedGen:C3661900|MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000599042	0.0002	0.0001	0.0003	0	0	0.0003	0	0	0.0002264	35	154602	rs145767631	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0001	0.0003	0	2.522e-05	1.883e-05	0.0003	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	9.622e-05	0	0.0002	0	0	0	0	0.0003	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	.	.	.	.	.	.	.	.	0.08333	382.83	35	chr5	172350490	.	C	T	382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=218;ExcessHet=0;FS=1.212;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.463;SOR=0.984	GT:AD:DP:GQ:PL	0/1:29,16:45:99:393,0,657	5	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8333	58405.1	351	chr6	7585734	.	G	C	58405.1	.	AC=10;AF=0.833;AN=12;DP=1793;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;QD=34.28;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,375:375:99:12767,1126,0	1	5	0	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.08333	1428.83	34	chr6	26090951	.	C	G	1428.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.62;DP=278;ExcessHet=0;FS=2.644;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.057;SOR=0.723	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1439,0,1100	5	0	1	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5833	9732.88	48	chr6	32039081	.	C	A	9732.88	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.911;DP=408;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=29.76;ReadPosRankSum=1.75;SOR=0.705	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2204,204,0	2	3	1	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N,TNXB:NM_001365276:exon43:c.G12530A:p.S4177N,TNXB:NM_019105:exon43:c.G12524A:p.S4175N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	156	1167	186	13	0	212	0.0832679	.	.	.	188198	not_specified|not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	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	0.162000	0.108696	0.195067	0.092593	0.000000	0.112903	0.107692	0.212329	0.08333	322.05	20	chr6	32041874	.	C	T	322.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.076;DP=106;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=29.32;MQRankSum=-1.595;QD=16.1;ReadPosRankSum=-0.537;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,9:20:99:0|1:32041857_C_T:332,0,435:32041857	5	0	1	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N,TNXB:NM_001365276:exon43:c.G12520A:p.D4174N,TNXB:NM_019105:exon43:c.G12514A:p.D4172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	196	1075	234	17	0	268	0.110835	.	.	.	188199	not_provided|not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	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	0.190000	0.125000	0.195980	0.058140	0.000000	0.171875	0.163793	0.272059	0.08333	254.05	13	chr6	32041884	.	C	T	254.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.237;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=29.71;MQRankSum=-1.475;QD=14.94;ReadPosRankSum=-1.141;SOR=0.425	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,7:17:99:0|1:32041857_C_T:264,0,399:32041857	5	0	1	0
chr6	43614439	43614439	C	A	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon9:c.C1652A:p.S551Y,POLH:NM_006502:exon11:c.C2024A:p.S675Y	Xeroderma pigmentosum, variant type, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	300268	Xeroderma_pigmentosum_variant_type|POLH-related_disorder|Xeroderma_pigmentosum|not_provided	MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342|.|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0146155645273	0.0015	0.000599042	0.0018	0	0	0	0.0079	0.0022	0.0044	0.0008	0.0015782	244	154602	rs151095678	0.0015	0.0015	0.0015	0.0016	0.0015	0.0015	0.0014	0.0014	0.0014	8.961e-05	4.472e-05	0	2.519e-05	0.0072	0	0.0015	0.0011	0.0009	0.0017	0.0017	0.0015	0.0018	0.0024	0.0015	0.0014	0.0021	0.0020	4.81e-05	0	0.0002	0	0	0.0074	0	0.0024	0.0005	0.0004	0.021	0.49117	D	0.033	0.53072	D	0.845	0.46707	P	0.259	0.39405	B	0.050657	0.02014	N	1.885850	0.85215	0.35241	D	1.245	0.31408	L	0.27	0.59176	T	-2.61	0.56144	D	0.111	0.09772	-0.8769	0.50005	T	0.141	0.46183	T	10	0.004907161	0.00105	T	0.014616	0.34856	T	0.203	0.48915	.	.	0.72232725858	0.71987	0.19483306380205648	0.19401	0.350778720902	0.36924	0.342900753021	0.16872	T	0.215691	0.57765	T	-0.503553	0.00546	T	-0.495005	0.22868	T	0.0745560942239734	0.09275	T	0.746125	0.36682	T	0.1708723	0.37688	0.14546658	0.34498	0.1708723	0.37688	0.14546658	0.34497	-8.424	0.63924	D	.	.	0.092	0.13503	B	.	.	2.032039	0.25824	16.90	0.91656504199356903	0.20945	0.81329	0.40755	D	AEFDBHCI	0.231066	0.35435	N	-0.176863252779593	0.34101	1.942324	-0.233560101000835	0.30343	1.707561	0.999999999999591	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	1.223000	0.32131	4.032000	0.41347	0.599000	0.40250	0.001000	0.13787	0.968000	0.29604	0.014000	0.10232	0.0:1.0:0.0:0.0	18.235	0.89885	274	0.89249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	809.83	33	chr6	43614439	.	C	A	809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.944;DP=268;ExcessHet=0;FS=1.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.956;SOR=0.465	GT:AD:DP:GQ:PL	0/1:57,37:94:99:820,0,1525	5	0	1	0
chr6	65344041	65344041	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon9:c.A1596C:p.K532N,EYS:NM_001142800:exon10:c.A1596C:p.K532N,EYS:NM_001142801:exon10:c.A1596C:p.K532N,EYS:NM_001292009:exon10:c.A1596C:p.K532N	Retinitis pigmentosa 25	10	1490	19	3	0	25	0.00831947	.	.	.	710583	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0083	0.00259585	0.0068	0.0011	0.0019	0	0.0031	0.0109	0.0088	0.0018	0.007018	1085	154602	rs61753611	0.0097	0.0098	0.0100	0.0095	0.0115	0.0096	0.0095	0.0113	0.0113	0.0010	0.0028	0.0140	2.525e-05	0.0051	0.0053	0.0115	0.0084	0.0012	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0105	0.0102	0.0019	0.0330	0.0050	0.0139	0.0002	0.0047	0.0204	0.0112	0.0090	0.0017	0.239	0.17761	T	0.161	0.31326	T	0.246	0.31102	B	0.035	0.24832	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-1.5	0.81318	D	0.6	0.14390	N	0.243	0.27435	-1.0342	0.19109	T	0.098	0.36625	T	9	0.0044945776	0.00092	T	.	.	.	0.047	0.12962	0.449	0.50957	0.110078149338	0.10416	0.23494252369575014	0.23409	0.0100119887689	0.00916	0.215253651142	0.01054	T	0.017918	0.14537	T	-0.549341	0.00294	T	-0.55019	0.17309	T	0.00412558134519826	0.00044	T	0.456654	0.13107	T	0.044149835	0.07007	0.05097871	0.08110	0.042527467	0.06467	0.05097871	0.08110	-3.118	0.12726	T	0.153488012199202	0.18260	0.234	0.50871	B	.;.;.;.	.;.;.;.	0.098160	0.05004	1.558	0.55313910472509453	0.05316	0.02315	0.06641	N	AEFI	0.047262	0.07940	N	-1.16824113892233	0.05486	0.2502346	-1.26494320617993	0.04913	0.232905	7.59859653809289E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-3.87	0.03939	-0.006000	0.12769	-2.928000	0.03221	0.602000	0.45918	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.1407:0.2333:0.0:0.626	4.660	0.12023	889	0.27310	.;.;.;.	.	.	.	.	.	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	0.005045	0.000000	0.006793	0.000000	0.000000	0.000000	0.009202	0.007576	0.1667	745.06	33	chr6	65344041	.	T	G	745.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.277;DP=214;ExcessHet=0.4139;FS=0.853;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.729;SOR=0.813	GT:AD:DP:GQ:PL	0/1:16,19:35:99:444,0,357	4	0	2	0
chr6	131884939	131884939	C	T	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2320T:p.R774C	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	1	1427	92	2	0	96	0.0325424	.	.	.	28625	Type_2_diabetes_mellitus|not_provided|Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	.	0.0264	0.01877	0.0332	0.0050	0.0124	0.0002	0.0945	0.0381	0.0242	0.0391	0.0316231	4889	154602	rs28933977	0.0344	0.0346	0.0340	0.0349	0.0402	0.0342	0.0341	0.0391	0.0386	0.0046	0.0119	0.0134	0.0002	0.0971	0.0248	0.0347	0.0319	0.0402	0.0282	0.0282	0.0263	0.0302	0.0366	0.0275	0.0272	0.0354	0.0349	0.0056	0.0987	0.0147	0.0107	0.0006	0.0925	0.0204	0.0366	0.0308	0.0355	0.008	0.58626	D	0.025	0.56192	D	0.967	0.56408	D	0.806	0.58437	P	0.656614	0.10464	N	0.848594	0.970586	0.38809	D	1.245	0.31408	L	-0.28	0.67543	T	-1.73	0.41046	N	0.136	0.13341	-0.8367	0.52865	T	0.188	0.53856	T	10	0.0044817626	0.00092	T	.	.	.	0.258	0.56959	.	.	.	.	0.5527615564937547	0.55202	0.747786030408	0.63611	0.211476936936	0.00876	T	0.407119	0.76282	T	-0.384824	0.02904	T	-0.28682	0.46103	T	0.0378080786344718	0.03299	T	0.79742	0.44137	T	0.07002272	0.15388	0.07948223	0.17896	0.09690692	0.22835	0.06881932	0.14420	-11.218	0.80840	D	0.27200696408221064	0.36577	0.106	0.19559	B	.;.	.;.	4.199890	0.63365	24.6	0.99856038771613742	0.93458	0.66565	0.33123	D	AEFBI	0.296067	0.40601	N	0.0265946949372309	0.43065	2.60698	0.0178614397178848	0.40544	2.421388	0.0269375635423906	0.13743	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	2.8	0.31881	1.822000	0.38690	0.025000	0.13648	-0.218000	0.08083	0.917000	0.31872	0.001000	0.17328	0.982000	0.59238	0.3654:0.4143:0.2203:0.0	7.410	0.26184	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	RPS12	Esophagus_Gastroesophageal_Junction	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029708	0.020202	0.017663	0.014620	0.050000	0.051724	0.051829	0.041667	0.1667	1485.06	34	chr6	131884939	.	C	T	1485.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.335;DP=264;ExcessHet=0.4139;FS=1.426;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.02;SOR=0.877	GT:AD:DP:GQ:PL	0/1:32,33:65:99:796,0,728	4	0	2	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.5833	12691.9	120	chr6	151615542	.	G	A	12691.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.896;DP=553;ExcessHet=0;FS=5.604;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=26.95;ReadPosRankSum=0.417;SOR=0.721	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1423,0,1469	2	3	1	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.4167	4420.5	76	chr6	159692840	.	A	G	4420.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.47;DP=329;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.006;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,34:69:99:869,0,883	2	1	3	0
chr7	21750217	21750217	G	A	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1495	26	0	0	26	0.00862069	0.9741	0.676	.	174069	Primary_ciliary_dyskinesia_7|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.00239617	0.0074	0.0002	0.0026	0	0.0044	0.0079	0.0098	0.0157	0.003965	613	154602	rs189821372	0.0042	0.0043	0.0040	0.0045	0.0102	0.0041	0.0041	0.0096	0.0093	0.0007	0.0017	0.0094	2.547e-05	0.0026	0.0047	0.0041	0.0043	0.0102	0.0032	0.0032	0.0035	0.0028	0.0083	0.0029	0.0028	0.0063	0.0056	0.0008	0.0011	0.0020	0.0095	0	0.0010	0.0034	0.0047	0.0048	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3007.0	36	chr7	21750217	.	G	A	3007.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.859;DP=281;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.63;ReadPosRankSum=-0.86;SOR=0.649	GT:AD:DP:GQ:PL	0/1:36,38:74:99:907,0,933	4	1	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9167	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	0|1:45,51:96:99:0|1:21867834_G_GT:1987,0,1658:21867834	0	5	1	0
chr7	70790590	70790590	-	CCA	exonic	AUTS2	.	nonframeshift insertion	AUTS2:NM_001127231:exon18:c.3302_3303insCCA:p.H1109_P1110insH,AUTS2:NM_015570:exon19:c.3374_3375insCCA:p.H1133_P1134insH	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	360894	Autism_spectrum_disorder_due_to_AUTS2_deficiency|not_provided|Autism|Global_developmental_delay	MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	.	0.0098	0.0023	0.0036	0.0009	0.0004	0.0075	0.0166	0.0279	0.0003842	10	26028	rs1057518870	0.0084	0.0085	0.0077	0.0090	0.0268	0.0082	0.0082	0.0249	0.0246	0.0024	0.0058	0.0075	0.0014	0.0022	0.0268	0.0077	0.0091	0.0259	0.0062	0.0063	0.0063	0.0062	0.0265	0.0059	0.0058	0.0227	0.0213	0.0025	0.0066	0.0073	0.0061	0.0010	0.0018	0.0204	0.0078	0.0076	0.0265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2621.03	36	chr7	70790590	.	G	GCCA	2621.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.833;DP=341;ExcessHet=0.4139;FS=0.599;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.63;SOR=0.597	GT:AD:DP:GQ:PL	0/1:44,35:79:99:1268,0,1728	4	0	2	0
chr7	74053321	74053322	TG	-	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303342	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0.0686	0.0344	0.0563	0.0396	0.0402	0.0484	0.0643	0.0295662	4571	154602	rs781811385	0.0510	0.0565	0.0508	0.0513	0.1009	0.0507	0.0506	0.0980	0.0968	0.1009	0.0498	0.0423	0.0930	0.0625	0.0521	0.0466	0.0556	0.0644	0.0472	0.0476	0.0460	0.0485	0.0883	0.0463	0.0459	0.0859	0.0849	0.0883	0.0180	0.0411	0.0304	0.0554	0.0424	0.0248	0.0256	0.0467	0.0503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10577.4	80	chr7	74053320	.	CTG	C	10577.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.23;DP=741;ExcessHet=0.4139;FS=0.879;MLEAC=2;MLEAF=0.167;MQ=59.95;MQRankSum=0;QD=25.37;ReadPosRankSum=0.864;SOR=0.535	GT:AD:DP:GQ:PL	0/1:1,26:75:99:2413,1270,1082	4	0	2	0
chr7	80671037	80671037	T	C	exonic	CD36	.	synonymous SNV	CD36:NM_001289908:exon6:c.T762C:p.F254F,CD36:NM_001371080:exon7:c.T414C:p.F138F,CD36:NM_001127444:exon8:c.T879C:p.F293F,CD36:NM_001289909:exon8:c.T699C:p.F233F,CD36:NM_001289911:exon8:c.T651C:p.F217F,CD36:NM_001127443:exon9:c.T879C:p.F293F,CD36:NM_000072:exon10:c.T879C:p.F293F,CD36:NM_001001547:exon10:c.T879C:p.F293F,CD36:NM_001001548:exon10:c.T879C:p.F293F,CD36:NM_001371074:exon10:c.T879C:p.F293F,CD36:NM_001371075:exon10:c.T879C:p.F293F,CD36:NM_001371077:exon10:c.T879C:p.F293F,CD36:NM_001371078:exon10:c.T879C:p.F293F,CD36:NM_001371079:exon10:c.T777C:p.F259F,CD36:NM_001371081:exon10:c.T414C:p.F138F	Platelet glycoprotein IV deficiency, Autosomal recessive	3	1469	46	4	0	54	0.0180481	.	.	.	711137	not_provided|Platelet-type_bleeding_disorder_10	MedGen:C3661900|MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.0111821	0.0065	0.0004	0.0005	0.0052	0.0006	0.0008	0.0022	0.0405	0.0057955	896	154602	rs188717259	0.0031	0.0031	0.0019	0.0044	0.0405	0.0031	0.0030	0.0394	0.0390	0.0002	0.0003	0.0025	0.0031	0.0007	0.0080	0.0005	0.0045	0.0405	0.0022	0.0022	0.0016	0.0029	0.0462	0.0020	0.0019	0.0412	0.0393	7.214e-05	0	0.0007	0.0020	0.0073	0.0008	0.0034	0.0006	0.0019	0.0462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.009567	0.000000	0.004076	0.005848	0.050000	0.000000	0.012195	0.018939	0.1667	2272.06	34	chr7	80671037	.	T	C	2272.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.282;DP=297;ExcessHet=0.4139;FS=3.831;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0.056;SOR=0.999	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1055,0,1011	4	0	2	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5153.38	32	chr7	92499847	.	CA	C	5153.38	.	AC=9;AF=0.75;AN=12;BaseQRankSum=2.66;DP=265;ExcessHet=0;FS=2.335;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=1.78;SOR=1.117	GT:AD:DP:GQ:PL	1/0:0,13:23:99:550,255,283	0	3	3	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	9290.48	40	chr7	103989356	.	T	TGCCGCC	9290.48	.	AC=10;AF=0.833;AN=12;BaseQRankSum=2.1;DP=386;ExcessHet=0;FS=7.742;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.24;ReadPosRankSum=-2.012;SOR=1.501	GT:AD:DP:GQ:PL	1/0:0,20:38:99:1842,766,683	0	4	2	0
chr7	103989356	103989356	-	GCCGCCGCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGCGGCGGC;NM_005045:c.-1_0insGGCGGCGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	309186	not_specified|RELN-related_disorder|not_provided|Lissencephaly,_Recessive	MedGen:CN169374|.|MedGen:C3661900|MedGen:CN239458	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0	0	0.0002	0.0050	0.0033	0.0004463	69	154602	rs587780434	0.0110	0.0110	0.0111	0.0109	0.0509	0.0108	0.0108	0.0486	0.0476	0.0509	0.0048	0.0045	0.0046	0.0041	0.0238	0.0104	0.0137	0.0126	0.0241	0.0242	0.0239	0.0243	0.0542	0.0235	0.0232	0.0523	0.0515	0.0542	0.0617	0.0171	0.0075	0.0038	0.0057	0.0108	0.0116	0.0316	0.0288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9290.48	40	chr7	103989356	.	T	TGCCGCCGCCGCC	9290.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=386;ExcessHet=0;FS=7.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.24;ReadPosRankSum=-2.012;SOR=1.501	GT:AD:DP:GQ:PL	0/1:0,18:38:99:1842,845,768	5	0	1	0
chr7	107715515	107715515	C	A	UTR3	SLC26A4	NM_000441:c.*69C>A	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	309281	not_provided|Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4	MedGen:C3661900|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0001876	29	154602	rs76894072	0.0005	0.0004	0.0006	0.0005	0.0111	0.0005	0.0005	0.0102	0.0099	0.0004	0	0	0.0111	0	0.0004	3.632e-05	0.0010	0.0004	0.0008	0.0008	0.0008	0.0009	0.0150	0.0007	0.0007	0.0123	0.0114	0.0009	0	0	0	0.0150	0	0	7.351e-05	0.0005	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	420.83	14	chr7	107715515	.	C	A	420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.703;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-1.741;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,16:26:99:431,0,268	5	0	1	0
chr7	116769637	116769637	C	-	intronic	MET	.	.	.	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	144	1355	22	1	0	24	0.00877835	.	.	.	191187	not_provided|Nonsyndromic_genetic_hearing_loss|Renal_cell_carcinoma|Papillary_renal_cell_carcinoma_type_1|not_specified|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0023	.	0.0010	0	0.0002	0	0	0.0018	0.0011	0.0001	0.0001153	3	26028	rs587780736	0.0011	0.0013	0.0011	0.0010	0.0061	0.0010	0.0010	0.0045	0.0040	0.0015	0.0020	0.0265	2.522e-05	0.0001	0.0061	0.0004	0.0026	0.0004	0.0013	0.0015	0.0014	0.0013	0.0008	0.0012	0.0011	0.0007	0.0006	0.0002	0	0.0008	0.0308	0	0.0004	0.0179	0.0008	0.0020	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	125.79	34	chr7	116769636	.	TC	T	125.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.41;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=1.46;SOR=0.582	GT:AD:DP:GQ:PL	0/1:26,9:37:99:136,0,804	5	0	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8333	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	1/1:0,102:102:99:3099,306,0	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	0/1:43,25:68:99:147,0,684	0	0	6	0
chr7	131506291	131506291	C	T	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon6:c.G1184A:p.R395Q,PODXL:NM_001018111:exon7:c.G1280A:p.R427Q	.	0	225	1	0	0	1	0.00221729	.	.	.	1541791	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.00408158761684	0.0002	0.000399361	0.0002	9.61e-05	0.0008	0	0	0.0002	0	0	0.0001876	29	154602	rs199529657	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	8.961e-05	0.0010	0	0	0	0.0003	0.0003	0.0002	5.797e-05	0.0004	0.0004	0.0003	0.0006	0.0021	0.0003	0.0003	0.0015	0.0013	7.215e-05	0	0.0021	0	0	0	0	0.0004	0.0019	0	0.34	0.12714	T	0.145	0.33000	T	0.179	0.28995	B	0.014	0.16862	B	0.404368	0.04554	N	1.506970	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-0.01	0.07590	N	0.1	0.12770	-1.0408	0.17071	T	0.019	0.08173	T	10	0.020045966	0.00456	T	0.004082	0.09744	T	0.038	0.09825	.	.	0.18274738541	0.17906	0.3441388122477267	0.34327	0.375685216108	0.39028	0.21295183897	0.00943	T	0.061532	0.31678	T	-0.584214	0.00182	T	-0.69122	0.06319	T	0.0255381071840856	0.01344	T	0.587441	0.21745	T	0.024510982	0.01289	0.030094951	0.01422	0.024510982	0.01289	0.030094951	0.01422	-5.738	0.44031	T	.	.	0.097	0.17700	B	.;.	.;.	1.102562	0.14872	11.40	0.99105166612299944	0.52572	0.02766	0.07461	N	AEFDBHCI	0.047538	0.08015	N	-1.28074816257271	0.03907	0.1754088	-1.28209261520343	0.04672	0.2209466	0.995900895694021	0.34398	0.67177	0.52595	0	0.759151	0.99529	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.79	-2.71	0.05633	-0.740000	0.04966	-1.850000	0.04613	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.745000	0.35611	0.268:0.272:0.1882:0.2718	0.184	0.00118	952	0.10565	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1091.83	35	chr7	131506291	.	C	T	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.792;SOR=0.671	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1102,0,1211	5	0	1	0
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	118.43	.	chr7	140734797	.	G	GA	118.43	.	AC=4;AF=1;AN=4;DP=14;ExcessHet=0;FS=0;MLEAC=5;MLEAF=1;MQ=60;QD=29.61;SOR=1.981	GT:AD:DP:GQ:PL	1/1:0,1:1:3:29,3,0	0	2	0	4
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|1:109,28:137:99:0|1:142750561_C_T:791,0,4233:142750561	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|1:124,18:142:99:0|1:142750660_G_T:383,0,5153:142750660	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|1:118,17:135:99:0|1:142750660_G_T:359,0,4904:142750660	2	0	4	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	0/1:138,56:194:99:1796,0,3826	2	0	4	0
chr8	1909390	1909390	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon17:c.G1949A:p.S650N,ARHGEF10:NM_014629:exon18:c.G2063A:p.S688N,ARHGEF10:NM_001308153:exon19:c.G2135A:p.S712N	.	0	1503	19	0	0	19	0.00628099	.	.	.	361190	not_provided|Autosomal_dominant_slowed_nerve_conduction_velocity|not_specified	MedGen:C3661900|MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00454202123999	0.0006	0.000399361	0.0008	9.614e-05	0.0015	0	0.0002	0.0011	0.0033	0.0007	0.0007827	121	154602	rs143290224	0.0006	0.0006	0.0006	0.0007	0.0135	0.0006	0.0006	0.0111	0.0102	0.0010	0.0019	0	0	3.75e-05	0.0135	0.0005	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0043	0	0	0	0	0.0006	0.0024	0.0002	0.372	0.17014	T	0.374	0.16914	T	0.002	0.09854	B	0.013	0.16460	B	0.887705	0.07275	N	1.057830	1	0.08975	N	0.15	0.08895	N	2.23	0.18083	T	-0.8	0.22078	N	0.081	0.09914	-0.9764	0.35816	T	0.037	0.15770	T	10	0.0051074624	0.00111	T	0.004542	0.11189	T	0.077	0.22490	.	.	0.134241683229	0.13084	0.21262784305416427	0.21178	0.0324232225892	0.03388	0.353598922491	0.18450	T	0.028301	0.20534	T	-0.687676	0.00043	T	-0.767839	0.02839	T	0.0121567051769111	0.00194	T	.	.	.	0.029185459	0.02373	0.044929598	0.05932	0.03713525	0.04704	0.042660918	0.05131	-6.413	0.51068	T	.	.	0.076	0.05756	B	.;.;.;.;.	.;.;.;.;.	-0.158695	0.03307	0.574	0.78395020267440041	0.12282	0.14466	0.18418	N	AEFDBI	0.059294	0.11189	N	-1.33759350455826	0.03255	0.1450981	-1.4347312478848	0.02911	0.13482	0.980101808749081	0.30099	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	-5.54	0.02343	1.899000	0.39450	0.335000	0.17323	-0.633000	0.04490	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.1465:0.131:0.7225:0.0	12.370	0.54581	958	0.09170	.;.;.;.;.	.	.	.	.	.	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	0.018127	0.020202	0.024457	0.014620	0.000000	0.025862	0.009146	0.003788	0.1667	5635.06	78	chr8	1909390	.	G	A	5635.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.517;DP=689;ExcessHet=0.4139;FS=0.519;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.2;SOR=0.737	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2595,0,2545	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	1/0:0,67:86:99:.:.:11268,3941,3411:.	4	1	1	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	312269	Retinitis_pigmentosa_88|Occult_macular_dystrophy|not_specified|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	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	0.274421	0.257576	0.265668	0.260234	0.300000	0.301724	0.323171	0.242424	0.25	31653.5	162	chr8	10610127	.	T	C	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	0/1:0,19:86:99:.:.:11268,4550,4428:.	3	0	3	0
chr8	27479260	27479265	ACACAT	-	UTR5	CHRNA2	NM_000742:c.8203_8202delins-;NM_001347708:c.15413_15412delins-;NM_001347707:c.15413_15412delins-;NM_001347706:c.15296_15295delins-;NM_001282455:c.8203_8202delins-;NM_001347705:c.15296_15295delins-	.	.	Epilepsy, nocturnal frontal lobe, type 4, Autosomal dominant	1239	255	10	11	7	39	0.0590406	.	.	.	314028	not_provided|Familial_sleep-related_hypermotor_epilepsy	MedGen:C3661900|MONDO:MONDO:0000030,MedGen:C5577629,OMIM:PS600513	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs886062852	0.1371	0.0090	0.1798	0.1240	0.2000	0.1182	0.1110	0.1224	0.1144	0	0.2000	0.5000	0.1500	0	0	0.1437	0.0909	0.0625	0.1478	0.1493	0.1450	0.1508	0.1876	0.1462	0.1455	0.1848	0.1837	0.0402	0.1264	0.1832	0.1630	0.0849	0.2964	0.1276	0.1876	0.1296	0.0870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	120.76	6	chr8	27479259	.	CACACAT	C	120.76	.	AC=2;AF=0.25;AN=8;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=25.65;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:27479250_A_T:135,9,0:27479250	3	1	0	2
chr8	27803549	27803549	-	ACACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	308811	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005379	14	26028	rs144484866	0.0467	0.0470	0.0470	0.0464	0.1354	0.0464	0.0462	0.1318	0.1304	0.0843	0.0440	0.0391	0.1354	0.0861	0.0443	0.0419	0.0539	0.0426	0.0654	0.0658	0.0628	0.0681	0.1642	0.0643	0.0638	0.1550	0.1513	0.0854	0.0144	0.0598	0.0340	0.1642	0.0994	0.0345	0.0455	0.0662	0.0481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	241.56	1	chr8	27803549	.	T	TACACAC	241.56	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.674;DP=20;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=-1.15;SOR=1.402	GT:AD:DP:GQ:PL	0/1:1,3:4:8:123,0,8	3	0	1	2
chr8	47864551	47864551	G	A	intronic	PRKDC	.	.	.	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	369483	Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_provided	MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0.0040	0	9.7e-05	15	154602	rs780022870	0.0002	0.0002	0.0001	0.0002	0.0065	0.0001	0.0001	0.0046	0.0040	0.0002	2.316e-05	0	0	0	0.0065	0.0001	0.0003	0.0001	7.223e-05	7.218e-05	7.71e-05	6.714e-05	0.0002	3.969e-05	3.126e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0.0034	0.0001	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	3708.83	37	chr8	47864551	.	G	A	3708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.959;DP=489;ExcessHet=0;FS=0.419;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.8;SOR=0.725	GT:AD:DP:GQ:PL	0/1:156,147:303:99:3719,0,4058	5	0	1	0
chr8	47893277	47893277	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon31:c.G3709A:p.A1237T,PRKDC:NM_006904:exon31:c.G3709A:p.A1237T	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	0	1493	29	0	0	29	0.00961857	.	.	.	371922	PRKDC-related_disorder|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_provided	.|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.00427168699308	0.0006	0.000199681	0.0010	0.0004	0.0016	0	0	0.0013	0.0025	0.0006	0.0008344	129	154602	rs191531119	0.0007	0.0007	0.0007	0.0008	0.0278	0.0007	0.0007	0.0243	0.0229	0.0010	0.0009	0.0058	0	0	0.0278	0.0005	0.0018	0.0008	0.0006	0.0006	0.0007	0.0005	0.0007	0.0005	0.0005	0.0005	0.0004	7.218e-05	0	0.0007	0.0081	0	0	0.0102	0.0006	0.0033	0.0004	0.398	0.10553	T	0.406	0.14725	T	0.075	0.24198	B	0.08	0.28873	B	0.000423	0.44522	N	0.195454	0.987602	0.24499	N	.	.	.	4.37	0.02437	T	-0.9	0.24244	N	0.045	0.02559	-0.9225	0.45210	T	0.007	0.02360	T	9	0.00720194	0.00164	T	0.004272	0.10341	T	0.048	0.13305	.	.	0.288221626996	0.28429	0.2577901571421005	0.25693	0.160355348195	0.18093	0.289789557457	0.08891	T	0.114369	0.43213	T	-0.649918	0.00072	T	-0.75189	0.03413	T	0.0173658003147706	0.00475	T	0.760924	0.38541	T	0.027305225	0.01904	0.060164414	0.11413	0.033926997	0.03710	0.067229226	0.13879	-3.462	0.15904	T	0.3477253227131244	0.44515	0.082	0.08802	B	.;.	.;.	0.931801	0.13072	9.574	0.5586442457726889	0.05431	0.62056	0.31667	D	AEFDBI	0.062470	0.12011	N	-0.562255373657403	0.20101	1.057191	-0.509359093036359	0.21898	1.186849	0.326110412030161	0.19435	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.04	0.46262	1.696000	0.37392	1.058000	0.23696	-0.929000	0.02155	0.800000	0.29721	0.483000	0.25112	0.005000	0.06747	0.18:0.5942:0.0:0.2258	5.078	0.13978	546	0.72524	.;.	.	.	.	.	.	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	0.027694	0.020202	0.036685	0.070175	0.000000	0.008621	0.009146	0.000000	0.08333	1729.83	34	chr8	47893277	.	C	T	1729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.547;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.462;SOR=0.741	GT:AD:DP:GQ:PL	0/1:51,69:120:99:1740,0,1240	5	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1667	4559.06	34	chr8	132941380	.	C	T	4559.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.806;DP=511;ExcessHet=0.4139;FS=2.899;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.65;SOR=0.87	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2023,0,2240	4	0	2	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	1/1:0,18:18:55:811,55,0	1	2	3	0
chr9	13121735	13121735	A	C	intronic	MPDZ	.	.	.	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	413	1089	19	1	0	21	0.0095498	0.0001	0.026	.	1045928	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000399361	0.0010	0	0.0015	0	0.0002	0.0014	0.0011	0.0005	0.0008926	138	154602	rs199870788	0.0007	0.0007	0.0006	0.0007	0.0066	0.0006	0.0006	0.0049	0.0044	8.961e-05	0.0013	0.0003	5.038e-05	0.0003	0.0066	0.0006	0.0012	0.0007	0.0007	0.0007	0.0006	0.0008	0.0015	0.0006	0.0006	0.0009	0.0008	0.0001	0	0.0010	0	0	0.0003	0.0034	0.0011	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2053.06	33	chr9	13121735	.	A	C	2053.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.415;DP=308;ExcessHet=0.4139;FS=2.183;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.47;SOR=0.904	GT:AD:DP:GQ:PL	0/1:47,37:84:99:962,0,1300	4	0	2	0
chr9	105773866	105773866	T	C	exonic	TMEM38B	.	nonsynonymous SNV	TMEM38B:NM_018112:exon6:c.T662C:p.I221T	Osteogenesis imperfecta, type XIV	431	1090	1	0	0	1	0.000458505	0.0025	0.04	.	1289535	not_provided|Osteogenesis_imperfecta|Osteogenesis_imperfecta_type_14	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0014029,MedGen:C3554428,OMIM:615066,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0125699326606	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0033	0.0003	0.0002523	39	154602	rs201882609	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	6.035e-05	0.0002	0.0034	0	0	0.0017	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0	0	0.0001	0.0037	0	0	0	0.0002	0.0005	0.0004	0.063	0.36709	T	0.262	0.22895	T	0.425	0.35474	B	0.192	0.36449	B	0.054881	0.22688	N	0.502200	0.707077	0.30049	N	1.64	0.41913	L	0.83	0.47815	T	-2.7	0.57599	D	0.251	0.28381	-0.9395	0.42695	T	0.096	0.36263	T	10	0.022871524	0.00583	T	0.01257	0.31260	T	0.162	0.41843	.	.	0.388174495139	0.38433	0.30291045580388926	0.30204	0.118623958842	0.13357	0.582552194595	0.50444	T	0.453524	0.79343	T	-0.305472	0.08153	T	-0.362307	0.37785	T	0.0406170578717652	0.03802	T	0.720728	0.33361	T	0.15174858	0.34481	0.15433234	0.36226	0.15174858	0.34481	0.15433234	0.36225	-3.484	0.16209	T	.	.	0.300	0.56031	B	.;.	.;.	2.816473	0.37091	20.4	0.9550207600030709	0.27094	0.88125	0.47917	D	AEFI	0.434898	0.49576	N	-0.0290732535172498	0.40542	2.409439	0.0572413986611293	0.42423	2.56568	0.0348817441288526	0.14175	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.7	4.7	0.58776	4.047000	0.57095	7.655000	0.63911	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:0.0:0.0:1.0	10.720	0.45232	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	1364.83	35	chr9	105773866	.	T	C	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.535;DP=269;ExcessHet=0;FS=0.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.496;SOR=0.546	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1375,0,1155	5	0	1	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3333	4491.94	37	chr9	133568656	.	G	A	4491.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.486;DP=337;ExcessHet=0.1336;FS=0.546;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=1.22;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2110,198,0	3	1	2	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.75	8776.7	74	chr9	133569476	.	A	G	8776.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=0.783;DP=442;ExcessHet=1.383;FS=0.57;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=0.77;SOR=0.785	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2285,233,0	0	3	3	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.4167	4787.48	36	chr9	133569488	.	C	G	4787.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.139;DP=325;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.766;SOR=0.664	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2126,218,0	3	2	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	964.16	3	chr10	8074278	.	G	GA	964.16	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.697;DP=58;ExcessHet=0.4139;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.366;SOR=1.565	GT:AD:DP:GQ:PL	1/1:0,8:8:24:225,24,0	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	0/1:15,7:22:99:224,0,430	1	4	1	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.1667	2770.06	34	chr10	43114671	.	G	A	2770.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.17;DP=366;ExcessHet=0.4139;FS=3.227;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.799;SOR=0.501	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1383,0,1583	4	0	2	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	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	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.1667	2524.06	34	chr10	52771475	.	C	T	2524.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.201;DP=336;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.435;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,64:118:99:.:.:1574,0,1305:.	4	0	2	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|1:0,24:24:73:1|1:90918983_AATAAATAAATATATATAT_A:1073,73,0:90918983	1	4	1	0
chr10	94234319	94234319	C	T	intronic	PLCE1	.	.	.	Nephrotic syndrome, type 3, Autosomal recessive	2	1518	2	0	0	2	0.000658328	0.0011	0.036	.	323972	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	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0005	0.0001	0.0003	0	0	0.0007	0.0011	6.061e-05	0.0004592	71	154602	rs201418194	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0021	0.0017	0.0007	0.0002	0.0093	0	0	0.0032	0.0001	0.0011	1.16e-05	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0002	0.0002	0.0001	0	0.0005	0.0089	0	0	0.0102	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	299.83	36	chr10	94234319	.	C	T	299.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.59;DP=189;ExcessHet=0;FS=14.548;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.362;SOR=0.009	GT:AD:DP:GQ:PL	0/1:11,11:22:99:310,0,389	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	1/1:0,23:23:69:640,69,0	0	5	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.75	11875.7	164	chr11	2159830	.	T	G	11875.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.074;DP=616;ExcessHet=1.383;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.407;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,50:113:99:.:.:1130,0,1642:.	0	3	3	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	346.25	6	chr11	17276578	.	C	G	346.25	.	AC=4;AF=0.5;AN=8;DP=12;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=27.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:17276557_A_C:90,6,0:17276557	2	2	0	2
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3446.51	40	chr11	17408375	.	T	C	3446.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.798;DP=213;ExcessHet=0.095;FS=6.67;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=0.939;SOR=0.235	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1007,102,0	2	2	2	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	803.64	10	chr11	17414293	.	A	G	803.64	.	AC=6;AF=0.6;AN=10;BaseQRankSum=-2.45;DP=57;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.28;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,6:6:18:184,18,0	1	2	2	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3100.51	31	chr11	17414389	.	G	A	3100.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.421;DP=161;ExcessHet=0.095;FS=3.026;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.45;ReadPosRankSum=-0.735;SOR=1.348	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1057,81,0	2	2	2	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4470.51	47	chr11	17414419	.	G	A	4470.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.754;DP=237;ExcessHet=0.095;FS=3.38;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.93;ReadPosRankSum=0.132;SOR=1.213	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1408,129,0	2	2	2	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	5392.9	60	chr11	17415389	.	A	G	5392.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.08;DP=299;ExcessHet=0.7136;FS=9.048;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=0.667;SOR=0.348	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1490,150,0	1	2	3	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10825.5	161	chr11	17463424	.	G	A	10825.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.684;DP=681;ExcessHet=0.7136;FS=1.927;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.512;SOR=0.913	GT:AD:DP:GQ:PL	1/1:0,157:157:99:5047,471,0	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	0/1:115,103:218:99:2451,0,2947	0	1	5	0
chr11	22279865	22279866	TT	-	UTR3	ANO5	NM_001142649:c.*100_*101delTT;NM_213599:c.*100_*101delTT	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	198	4	1	16	7	40	0.804878	.	.	.	313674	Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|not_specified	MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1491460943	0.4847	0.4800	0.4864	0.4832	0.5022	0.4832	0.4826	0.5004	0.4996	0.3369	0.4373	0.4965	0.3131	0.5284	0.4919	0.5022	0.4672	0.4755	0.5470	0.5408	0.5446	0.5494	0.6377	0.5437	0.5424	0.6326	0.6305	0.3600	0.7205	0.5649	0.6499	0.3285	0.7108	0.5906	0.6377	0.5639	0.5818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	240.16	5	chr11	22279864	.	CTT	C	240.16	.	AC=4;AF=0.5;AN=8;DP=33;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=34.31;SOR=4.174	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0	2	2	0	2
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.4167	14677.5	210	chr11	89178528	.	C	A	14677.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.939;DP=919;ExcessHet=0.7136;FS=0;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=0.757;SOR=0.679	GT:AD:DP:GQ:PL	0/1:121,123:244:99:3233,0,3165	2	1	3	0
chr11	121145567	121145567	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.C3556T:p.R1186W,TBCEL-TECTA:NM_001378761:exon18:c.C4513T:p.R1505W	.	0	1520	1	1	0	3	0.000985869	.	.	.	318882	Autosomal_dominant_nonsyndromic_hearing_loss_12|TECTA-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21	MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|.|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0857344375054	0.0003	0.00179712	0.0009	0	0.0002	0.0005	0	7.492e-05	0	0.0058	0.0007827	121	154602	rs148098950	0.0005	0.0005	0.0004	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	8.961e-05	0.0002	0	0.0002	0	0.0010	0.0002	0.0006	0.0057	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0047	0.0040	0.0001	0	0.0007	0	0.0006	0	0	0.0001	0	0.0064	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999746	0.48716	D	1.585	0.39878	L	0.18	0.60361	T	-2.46	0.53736	N	0.871	0.86833	-0.4790	0.69403	T	0.314	0.68424	T	10	0.0098540485	0.00221	T	0.085734	0.74592	D	0.352	0.67326	.	.	0.847631421277	0.84616	0.7341693214237388	0.73361	1.05113681247	0.76148	0.732054233551	0.71807	T	0.297435	0.67003	T	-0.0749782	0.40528	T	0.121857	0.78359	D	0.154764115743218	0.17476	T	0.965803	0.87368	D	0.43300048	0.62948	0.43418798	0.66947	0.46722206	0.65120	0.48998272	0.70493	-6.788	0.52470	T	0.2611662731153489	0.35261	0.712	0.78526	P	.;.;.	.;.;.	4.606355	0.72999	25.9	0.99918054428031255	0.98518	0.94445	0.61189	D	AEFDGBI	0.692640	0.65224	D	0.508790843477593	0.67608	5.104366	0.486460838566011	0.67094	5.037986	0.992833245878254	0.32986	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.87	4.95	0.64894	4.074000	0.57297	2.657000	0.33854	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.885000	0.42453	0.2643:0.7357:0.0:0.0	14.691	0.68694	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1941.06	34	chr11	121145567	.	C	T	1941.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.4;DP=334;ExcessHet=0.4139;FS=10.467;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=1.363	GT:AD:DP:GQ:PL	0/1:58,38:96:99:1039,0,1350	4	0	2	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_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	0/1:37,13:50:99:206,0,1132	2	0	4	0
chr12	6936729	6936737	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1470del:p.Q500_Q502del,ATN1:NM_001940:exon5:c.1462_1470del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1274995	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1316794609	0.0263	0.0264	0.0253	0.0274	0.2237	0.0261	0.0260	0.2193	0.2175	0.2237	0.0764	0.0486	0.0300	0.0092	0.0510	0.0147	0.0377	0.0719	0.0814	0.0825	0.0827	0.0801	0.2309	0.0802	0.0797	0.2269	0.2253	0.2309	0.0045	0.0638	0.0459	0.0345	0.0085	0.0382	0.0170	0.0662	0.0715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7250.44	37	chr12	6936728	.	ACAGCAGCAG	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	1/0:0,30:60:99:2426,1212,1267	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	1/1:0,9:9:36:398,36,0	0	5	1	0
chr12	8604926	8604926	-	AA	intronic	AICDA	.	.	.	Immunodeficiency with hyper-IgM, type 2, Autosomal recessive	533	144	331	418	96	1263	0.802062	.	.	.	332949	Hyper-IgM_syndrome_type_2|not_provided|Hyperimmunoglobulin_M_syndrome	MONDO:MONDO:0011528,MedGen:C1720956,OMIM:605258,Orphanet:101089|MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0927	.	0.0609	0.0246	0.1102	0.0415	0.0617	0.0541	0.0714	0.0834	0.0003074	8	26028	rs5796316	0.1025	0.1775	0.1048	0.1003	0.1307	0.1020	0.1018	0.1273	0.1260	0.0421	0.1307	0.1048	0.0868	0.0995	0.1003	0.1067	0.1019	0.0733	0.0173	0.0193	0.0163	0.0183	0.0545	0.0167	0.0164	0.0513	0.0500	0.0078	0.0022	0.0545	0.0263	0.0023	0.0246	0.0184	0.0148	0.0151	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2650.43	27	chr12	8604926	.	C	CAA	2650.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.42;DP=164;ExcessHet=0.4139;FS=1.132;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=0.116;SOR=0.896	GT:AD:DP:GQ:PL	0/1:1,3:15:30:320,226,250	4	0	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	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	0/1:21,8:29:99:112,0,434	0	0	6	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	33	79	73	18	23	132	0.40824	.	.	.	330174	Hypertrichotic_osteochondrodysplasia_Cantu_type|Dilated_Cardiomyopathy,_Dominant|Familial_atrial_fibrillation|not_specified|not_provided	MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MedGen:CN239310|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1486.56	12	chr12	21910317	.	CAA	C	1486.56	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.291;DP=148;ExcessHet=3.1439;FS=3.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.108;SOR=0.389	GT:AD:DP:GQ:PL	0/1:0,8:31:99:803,540,542	5	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	YES	54188	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided|PKP2-related_disorder	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	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	0.005482	0.000000	0.000000	0.020548	0.000000	0.008621	0.000000	0.011811	0.08333	585.83	34	chr12	32850772	.	T	C	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-0.264;SOR=0.712	GT:AD:DP:GQ:PL	0/1:55,29:84:99:596,0,1456	5	0	1	0
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	0/1:35,34:69:99:790,0,935	0	3	3	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	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	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.25	3352.0	41	chr12	55693209	.	C	T	3352.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.84;DP=299;ExcessHet=0;FS=0.766;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.632;SOR=0.667	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2337,234,0	4	1	1	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|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	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1667	3170.04	34	chr12	120739317	.	A	G	3170.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.56;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3190,333,0	5	1	0	0
chr12	120978765	120978765	A	G	UTR5	HNF1A	NM_000545:c.-4A>G;NM_001306179:c.-4A>G	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	0	1521	1	0	0	1	0.000328623	.	.	.	441509	not_provided|Nonpapillary_renal_cell_carcinoma|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0010	0	0	0	0	6.453e-05	0.0024	0.0068	0.0007956	123	154602	rs561269721	0.0004	0.0004	0.0002	0.0005	0.0055	0.0004	0.0003	0.0051	0.0049	0	0	3.828e-05	0	3.826e-05	0.0005	4.228e-05	0.0005	0.0055	0.0002	0.0002	7.716e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	6.534e-05	0	0	0	0	0	0	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1308.04	33	chr12	120978765	.	A	G	1308.04	.	AC=2;AF=0.167;AN=12;DP=223;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.7;SOR=0.902	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1328,120,0	5	1	0	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6667	7616.62	100	chr12	120978819	.	C	G	7616.62	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.53;DP=356;ExcessHet=0.1336;FS=0;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.708;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1459,131,0	1	3	2	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6667	15878.6	128	chr12	120997672	.	G	A	15878.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.05;DP=694;ExcessHet=0.1336;FS=1.426;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=24.58;ReadPosRankSum=1.25;SOR=0.665	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5426,527,0	1	3	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|1:12,10:22:99:0|1:132730334_CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT_C:386,0,472:132730334	1	0	5	0
chr13	110186475	110186475	G	A	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon26:c.C1807T:p.P603S	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	513327	not_provided|Hemorrhage,_intracerebral,_susceptibility_to|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Retinal_arterial_tortuosity|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	0.350169946826	.	.	1.689e-05	0	0	0	0	1.544e-05	0.0011	0	1.29e-05	2	154602	rs747585517	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0003	1.111e-05	9.34e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.619e-05	4.968e-05	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.049	0.39820	D	0.123	0.35582	T	0.954	0.54400	P	0.563	0.49647	P	0.000002	0.62929	D	0.060745	1	0.81001	D	2.36	0.67893	M	-4.06	0.96529	D	-4.49	0.78046	D	0.494	0.52740	0.928	0.96074	D	0.881	0.96035	D	10	0.7368567	0.74681	D	0.35017	0.92247	D	0.728	0.90457	0.471	0.54537	0.797550324333	0.79566	0.45766519602117356	0.45684	1.19757129527	0.80450	0.543149650097	0.44891	T	0.832095	0.96001	D	0.207399	0.74586	D	0.0601374	0.74253	D	0.935387015342712	0.60356	D	0.662034	0.27102	T	0.2562326	0.48661	0.3026562	0.56297	0.1854503	0.39908	0.30464837	0.56493	-7.026	0.54223	T	0.310055376845575	0.40791	0.088	0.11510	B	.	.	4.309602	0.65871	24.9	0.99478057955203736	0.66741	0.99048	0.90464	D	AEFDBI	0.928220	0.91209	D	0.611311158603558	0.73890	6.040452	0.582266993105831	0.73671	6.008442	0.999999999999883	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	6.928000	0.75662	11.715000	0.94718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.93	0.86058	994	0.00715	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1880.83	44	chr13	110186475	.	G	A	1880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.769;DP=380;ExcessHet=0;FS=0.56;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.009;SOR=0.751	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1891,0,2476	5	0	1	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1573.9	9	chr14	45159080	.	TTA	T	1573.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.668;DP=120;ExcessHet=0.1336;FS=6.708;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=1.73;SOR=0.184	GT:AD:DP:GQ:PL	0/1:7,10:17:99:335,0,213	3	1	2	0
chr14	50924026	50924026	C	A	exonic	PYGL	.	synonymous SNV	PYGL:NM_001163940:exon4:c.G501T:p.V167V,PYGL:NM_002863:exon5:c.G603T:p.V201V	Glycogen storage disease VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320687	PYGL-related_disorder|not_provided|Glycogen_storage_disease,_type_VI	.|MedGen:C3661900|MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000798722	0.0013	0.0007	0.0002	0	0.0003	0.0021	0	0.0003	0.0013519	209	154602	rs138364932	0.0020	0.0020	0.0020	0.0019	0.0025	0.0019	0.0019	0.0024	0.0023	0.0001	0.0004	3.827e-05	0	0.0003	0	0.0025	0.0012	0.0005	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0018	0.0016	0.0003	0	0.0002	0	0	0.0003	0	0.0020	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	548.83	33	chr14	50924026	.	C	A	548.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.848;DP=232;ExcessHet=0;FS=1.011;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.079;SOR=0.476	GT:AD:DP:GQ:PL	0/1:37,25:62:99:559,0,947	5	0	1	0
chr14	53949883	53949883	-	ATT	UTR3	BMP4	NM_001202:c.*148_*149insAAT;NM_001347917:c.*148_*149insAAT;NM_001347916:c.*148_*149insAAT;NM_001347915:c.*148_*149insAAT;NM_001347914:c.*148_*149insAAT;NM_001347913:c.*148_*149insAAT;NM_001347912:c.*148_*149insAAT;NM_130851:c.*148_*149insAAT;NM_130850:c.*148_*149insAAT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	1179	237	2	4	100	110	0.0206612	.	.	.	329502	Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|not_provided|Orofacial_cleft	MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1491520594	0.0476	0.0556	0.0476	0.0476	0.0585	0.0471	0.0469	0.0511	0.0502	0.0463	0.0321	0.0672	0.0420	0.0484	0.0585	0.0475	0.0471	0.0533	0.0448	0.0449	0.0454	0.0442	0.0647	0.0439	0.0435	0.0610	0.0601	0.0633	0.0281	0.0318	0.0761	0.0647	0.0365	0.0410	0.0356	0.0596	0.0507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	145.52	2	chr14	53949883	.	C	CATT	145.52	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=29.1;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,3:3:9:109,9,0	2	1	0	3
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	0/1:27,29:56:99:835,0,836	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	0/1:13,3:16:73:73,0,489	3	0	3	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9882.16	63	chr15	34791307	.	TCACA	T	9882.16	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.927;DP=713;ExcessHet=0;FS=3.472;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=33.05;ReadPosRankSum=0.782;SOR=0.968	GT:AD:DP:GQ:PL	1/0:1,29:52:99:1686,419,498	3	0	3	0
chr15	34791307	34791307	-	CACACA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	340329	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs767357797	0.0116	0.0182	0.0111	0.0121	0.0123	0.0114	0.0114	0.0115	0.0111	0.0082	0.0123	0.0116	0.0064	0.0265	0.0113	0.0111	0.0143	0.0114	0.0367	0.0375	0.0379	0.0354	0.0489	0.0358	0.0355	0.0475	0.0469	0.0226	0.0304	0.0237	0.0295	0.0133	0.0528	0.0399	0.0489	0.0266	0.0182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9882.16	63	chr15	34791307	.	T	TCACACA	9882.16	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.927;DP=713;ExcessHet=0;FS=3.472;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=33.05;ReadPosRankSum=0.782;SOR=0.968	GT:AD:DP:GQ:PL	0/1:1,9:52:99:1686,1216,1273	5	0	1	0
chr15	40622633	40622633	C	G	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.C2369G:p.T790S,KNL1:NM_170589:exon11:c.C2447G:p.T816S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1436	81	5	0	91	0.0307121	.	.	.	134040	Primary_Microcephaly,_Recessive|not_provided|not_specified	MedGen:CN239428|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	.	0.0184	0.0071885	0.0188	0.0020	0.0102	0	0.0101	0.0254	0.0187	0.0231	0.0184021	2845	154602	rs33931006	0.0206	0.0206	0.0202	0.0209	0.0347	0.0204	0.0203	0.0307	0.0292	0.0029	0.0098	0.0541	7.57e-05	0.0098	0.0347	0.0218	0.0192	0.0224	0.0153	0.0153	0.0164	0.0140	0.0228	0.0148	0.0145	0.0218	0.0214	0.0038	0.0022	0.0131	0.0507	0.0004	0.0085	0.0476	0.0228	0.0166	0.0213	0.061	0.37118	T	0.037	0.51737	D	0.017	0.17573	B	0.011	0.15521	B	0.138555	0.18374	N	0.455627	1	0.08975	N	.	.	.	3.42	0.05507	T	-1.73	0.41046	N	0.046	0.02759	-0.9998	0.29973	T	0.005	0.01506	T	10	0.0034999847	0.00062	T	.	.	.	0.041	0.10877	0.14	0.04369	.	.	0.08081392487344351	0.08016	0.0371948333757	0.03946	0.314217269421	0.12545	T	0.05573	0.30089	T	-0.736425	0.00022	T	-0.812347	0.01613	T	0.0021558066336278	0.00022	T	0.359864	0.08266	T	0.02999326	0.02585	0.042466994	0.05065	0.036356755	0.04455	0.042466994	0.05065	-2.735	0.07602	T	0.2370556755986329	0.32102	0.128	0.27252	B	.;.;.	.;.;.	0.133339	0.05285	1.781	0.41105849147693513	0.02944	0.02430	0.06856	N	AEFBI	0.035535	0.04591	N	-1.40208599999898	0.02620	0.115974	-1.47477656815625	0.02553	0.1176043	0.015531235394433	0.12725	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.71	-2.89	0.05326	-0.604000	0.05763	-0.098000	0.11976	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.2221:0.2121:0.4959:0.0699	6.365	0.20654	465	0.78421	.;.;.	ZFYVE19	Cells_Cultured_fibroblasts	.	.	.	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	0.025202	0.000000	0.020380	0.035294	0.050000	0.008621	0.051829	0.007576	0.1667	3406.04	77	chr15	40622633	.	C	G	3406.04	.	AC=2;AF=0.167;AN=12;DP=516;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.54;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3426,324,0	5	1	0	0
chr15	43207238	43207238	G	A	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon9:c.C1369T:p.R457C,EPB42:NM_001114134:exon9:c.C1279T:p.R427C	Spherocytosis, type 5	0	1513	9	0	0	9	0.0029654	.	.	.	255218	not_provided|not_specified|Hereditary_spherocytosis_type_5	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.0150273381744	0.0029	0.00219649	0.0027	0.0011	0.0030	0	0.0006	0.0040	0.0033	0.0005	0.0030077	465	154602	rs45594632	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0009	0.0035	0.0026	0	0.0003	0.0040	0.0059	0.0043	0.0005	0.0029	0.0029	0.0031	0.0027	0.0051	0.0027	0.0026	0.0042	0.0039	0.0007	0	0.0051	0.0032	0.0002	0.0005	0.0136	0.0045	0.0043	0.0012	0.073	0.35918	T	0.221	0.32568	T	0.456	0.40571	P	0.081	0.29943	B	0.000080	0.52346	N	0.173924	0.999386	0.46865	D	2.44	0.70756	M	0.72	0.50976	T	-4.46	0.79399	D	0.273	0.34981	-1.0205	0.23551	T	0.070	0.28478	T	10	0.009778529	0.00220	T	0.015027	0.35522	T	0.127	0.34888	.	.	0.684028224155	0.68133	0.7049077322788614	0.70432	.	.	0.284432560205	0.08118	T	0.547313	0.84608	D	-0.38715	0.02806	T	-0.322918	0.42255	T	0.0443040641848691	0.04475	T	0.844016	0.52137	T	0.18646301	0.40056	0.16046575	0.37374	0.18646301	0.40056	0.16046575	0.37373	-5.135	0.42139	T	0.8031480437111392	0.87949	0.097	0.29995	B	.;.;.;.;.	.;.;.;.;.	4.230720	0.64060	24.7	0.99928634985142495	0.99222	0.45219	0.27490	N	AEFGBCI	0.510472	0.53951	D	-0.0478384161797629	0.39698	2.345351	0.0287026528778901	0.41052	2.460062	0.997380856824466	0.35561	0.603402	0.35316	0	0.563428	0.19063	0	0.573078	0.19857	0	0.663205	0.64265	0	.	.	5.87	4.97	0.65419	1.535000	0.35667	5.201000	0.47933	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0809:0.0:0.7595:0.1596	7.857	0.28653	16	0.98727	.;.;.;.;.	.	.	.	.	.	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	0.005051	0.002717	0.005848	0.000000	0.008621	0.012195	0.000000	0.08333	1443.83	33	chr15	43207238	.	G	A	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.66;DP=285;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.671;SOR=0.598	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1454,0,1374	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	1/1:0,135:135:99:3730,405,0	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	1/1:0,13:13:39:580,39,0	1	2	3	0
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	6869.51	33	chr15	82538982	.	A	G	6869.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.642;DP=390;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=1.34;SOR=0.668	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2357,246,0	2	2	2	0
chr15	88871510	88871510	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon13:c.G6961A:p.V2321I,ACAN:NM_013227:exon14:c.G7075A:p.V2359I,ACAN:NM_001369268:exon15:c.G7189A:p.V2397I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	3	1516	2	1	0	4	0.00131752	.	.	YES	439186	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00347553905536	0.0011	0.000199681	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0005	0.0007697	119	154602	rs150555123	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0013	0.0003	0.0010	0.0005	0	7.512e-05	0.0002	0.0014	0.0012	0.0003	0.0009	0.0009	0.0010	0.0008	0.0020	0.0008	0.0007	0.0014	0.0012	0.0002	0	0.0020	0.0006	0	0	0	0.0014	0.0005	0	0.843	0.07071	T	0.781	0.06788	T	.	.	.	.	.	.	0.010616	0.29855	N	0.000000	0.999999	0.08975	N	.	.	.	2.32	0.16640	T	-0.39	0.13611	N	0.136	0.20660	-1.0024	0.29226	T	0.021	0.08917	T	10	0.019824654	0.00448	T	0.003476	0.07847	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.5396566820515746	0.53890	0.261733253027	0.28725	0.317637383938	0.13063	T	.	.	.	-0.686421	0.00044	T	-0.763388	0.02993	T	0.00835893870462146	0.00101	T	0.454355	0.15447	T	0.019203026	0.00447	0.029473625	0.01288	0.017440213	0.00272	0.027778026	0.00957	-2.405	0.07161	T	.	.	0.086	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	0.245519	0.06252	2.707	0.97751645658308861	0.35745	0.20724	0.21145	N	AEFDBCI	0.094997	0.19200	N	-0.17876720219888	0.34020	1.936805	-0.126960422530195	0.34307	1.971984	0.785066180036367	0.23915	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	3.68	0.41359	0.206000	0.17174	0.415000	0.18155	-0.127000	0.13314	0.360000	0.25842	0.010000	0.20010	0.607000	0.31564	0.1699:0.3074:0.5227:0.0	5.737	0.17339	964	0.07719	C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-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	0.002541	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1483.06	33	chr15	88871510	.	G	A	1483.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.13;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.674;SOR=0.735	GT:AD:DP:GQ:PL	0/1:35,27:62:99:706,0,755	4	0	2	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S,BLM:NM_001287247:exon9:c.C2119T:p.P707S,BLM:NM_001287248:exon9:c.C994T:p.P332S,BLM:NM_001287246:exon10:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	132939	BLM-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Bloom_syndrome	.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1667	917.06	33	chr15	90765340	.	C	T	917.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.901;DP=200;ExcessHet=0.4139;FS=1.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.701;SOR=0.481	GT:AD:DP:GQ:PL	0/1:20,16:36:99:334,0,484	4	0	2	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	2	1242	263	15	0	293	0.10551	.	.	YES	17581	Inborn_genetic_diseases|Familial_Mediterranean_fever,_autosomal_dominant|See_cases|Familial_Mediterranean_fever|not_specified|MEFV-related_disorder|not_provided|Acute_febrile_neutrophilic_dermatosis|Systemic_lupus_erythematosus|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|.|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	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	0.081149	0.051546	0.061141	0.073099	0.050000	0.068966	0.060976	0.178030	0.1667	1013.06	31	chr16	3254626	.	C	G	1013.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.822;DP=190;ExcessHet=0.4139;FS=5.891;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.173;SOR=0.286	GT:AD:DP:GQ:PL	0/1:22,25:47:99:603,0,552	4	0	2	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	637.48	24	chr16	23445969	.	TA	T	637.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.502;DP=197;ExcessHet=6.1542;FS=1.649;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.033;SOR=0.89	GT:AD:DP:GQ:PL	0/1:12,10:22:99:179,0,202	1	0	5	0
chr16	72959900	72959900	G	A	exonic	ZFHX3	.	synonymous SNV	ZFHX3:NM_006885:exon2:c.C246T:p.N82N	.	408	1087	26	1	0	28	0.0127157	.	.	.	797408	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0032	0.0005	0.0020	0	0	0.0045	0.0041	0.0038	0.0026584	411	154602	rs62640000	0.0022	0.0023	0.0021	0.0024	0.0080	0.0022	0.0021	0.0062	0.0055	6.018e-05	0.0013	0.0425	5.067e-05	0	0.0080	0.0013	0.0049	0.0041	0.0024	0.0024	0.0026	0.0023	0.0031	0.0022	0.0022	0.0024	0.0021	0.0003	0	0.0031	0.0449	0	0	0	0.0018	0.0085	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	0.005572	0.005319	0.001359	0.005848	0.000000	0.000000	0.021605	0.000000	0.1667	1328.06	43	chr16	72959900	.	G	A	1328.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.896;DP=201;ExcessHet=0.4139;FS=9.841;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=1.33;SOR=0.186	GT:AD:DP:GQ:PL	0/1:12,22:34:99:648,0,327	4	0	2	0
chr16	84179605	84179605	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C950T:p.A317V,TAF1C:NM_001243157:exon12:c.C950T:p.A317V,TAF1C:NM_001243160:exon12:c.C515T:p.A172V,TAF1C:NM_001243159:exon14:c.C719T:p.A240V,TAF1C:NM_005679:exon14:c.C1946T:p.A649V,TAF1C:NM_001243156:exon15:c.C1868T:p.A623V,TAF1C:NM_139353:exon15:c.C1664T:p.A555V	.	395	1122	4	1	0	6	0.00266667	.	.	.	2817853	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.0147665743045	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0013	0.0024	0.0006	0.0008215	127	154602	rs139380627	0.0012	0.0012	0.0012	0.0012	0.0018	0.0012	0.0012	0.0014	0.0013	0.0001	0.0006	0.0015	0	5.71e-05	0.0018	0.0014	0.0011	0.0008	0.0012	0.0012	0.0012	0.0013	0.0038	0.0011	0.0010	0.0030	0.0027	0.0003	0	0.0038	0.0026	0	0	0.0068	0.0015	0.0019	0.0004	0.077	0.40068	T	0.053	0.54541	T	0.037	0.44108	B	0.012	0.41250	B	0.536896	0.05290	N	1.271510	1	0.08975	N	1.495	0.37439	L	3.6	0.05071	T	-1.19	0.30346	N	0.11	0.23380	-0.9637	0.38468	T	0.012	0.04605	T	10	0.00704208	0.00160	T	0.014767	0.35101	T	0.018	0.03083	.	.	0.156986980423	0.15292	0.12379529269135672	0.12305	.	.	0.255018651485	0.04315	T	0.007564	0.06959	T	-0.569409	0.00223	T	-0.615321	0.11556	T	0.0109394200561875	0.00157	T	0.665433	0.27458	T	0.03879356	0.05237	0.05869657	0.10888	0.03879356	0.05237	0.05869657	0.10888	-4.429	0.30665	T	.	.	0.086	0.16494	B	.;.;.;.;.	.;.;.;.;.	0.744823	0.11144	7.785	0.99575624112286032	0.72682	0.18124	0.20129	N	AEFDBCI	0.126936	0.24409	N	-0.863720242708867	0.11713	0.5668247	-0.907794979046585	0.11909	0.6096361	0.999989958459192	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.95	2.95	0.33285	2.457000	0.44662	1.652000	0.27851	-0.194000	0.09177	0.369000	0.25916	0.004000	0.18990	0.008000	0.08271	0.099:0.0:0.696:0.205	5.95	0.18476	735	0.53711	.;.;.;.;.	.	.	.	.	.	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	1678.06	46	chr16	84179605	.	G	A	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.437;DP=239;ExcessHet=0.4139;FS=1.833;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.05;SOR=0.836	GT:AD:DP:GQ:PL	0/1:17,32:49:99:958,0,422	4	0	2	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.1667	2472.06	34	chr16	85918797	.	T	G	2472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.099;DP=360;ExcessHet=0.4139;FS=3.069;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.775;SOR=0.909	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1344,0,1162	4	0	2	0
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	1165	284	20	53	0	126	0.181556	.	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	252.19	1	chr16	86513394	.	C	CT	252.19	.	AC=4;AF=0.4;AN=10;DP=12;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=30.27;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:86513394_C_CT:135,9,0:86513394	3	2	0	1
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.1667	1254.06	43	chr16	88736210	.	C	T	1254.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.38;DP=258;ExcessHet=0.4139;FS=0.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.6;SOR=0.588	GT:AD:DP:GQ:PL	0/1:19,27:46:99:785,0,444	4	0	2	0
chr17	17236983	17236983	G	A	UTR5	FLCN	NM_001353230:c.-8846C>T;NM_001353231:c.-8846C>T;NM_001353229:c.-8846C>T;NM_144997:c.-8846C>T;NM_144606:c.-8846C>T	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1210	212	32	68	0	168	0.283784	.	.	.	343588	not_provided|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Birt-Hogg-Dube_syndrome|FLCN-related_disorder	MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.428315	.	.	.	.	.	.	.	.	0.458737	11940	26028	rs1708629	0.5833	0.0231	0.6667	0.5333	0.5870	0.4146	0.3578	0.4143	0.3564	.	.	.	.	.	.	0.5870	0.5000	.	0.4523	0.4525	0.4452	0.4599	0.6252	0.4495	0.4483	0.6072	0.5999	0.1501	0.6897	0.5279	0.5265	0.6252	0.7318	0.3537	0.5601	0.4360	0.4094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	84.79	1	chr17	17236983	.	G	A	84.79	.	AC=4;AF=0.5;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;QD=21.2;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	2	0	2
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2487.32	26	chr17	18130817	.	A	AGT	2487.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.29;DP=437;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.69;ReadPosRankSum=-0.912;SOR=1.029	GT:AD:DP:GQ:PL	1/0:5,6:26:41:443,323,420	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	0/1:51,25:76:99:500,0,1235	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|1:114,97:211:99:0|1:21300875_G_T:3645,0,4426:21300875	0	0	6	0
chr17	40818851	40818851	-	GCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.G565_H566insGYGGGSSSGGGYGGGSSSGG,KRT10:NM_001379366:exon7:c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC:p.G565_H566insGYGGGSSSGGGYGGGSSSGG	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	2	1227	180	18	95	311	0.0808989	.	.	.	1038525	not_specified|not_provided|Epidermolytic_ichthyosis|Congenital_reticular_ichthyosiform_erythroderma|Annular_epidermolytic_ichthyosis	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312|MONDO:MONDO:0012208,MedGen:C3665704,OMIM:609165,Orphanet:281190|MONDO:MONDO:0011870,MedGen:C1843463,OMIM:PS607602,Orphanet:281139	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.0084	0.0076	0.0082	0.0568	0.0078	0.0077	0.0547	0.0538	0.0086	0.0049	0.0219	0.0568	0.0234	0.0151	0.0053	0.0136	0.0060	0.0202	0.0217	0.0206	0.0198	0.0859	0.0196	0.0193	0.0784	0.0755	0.0172	0.0223	0.0172	0.0316	0.0859	0.0179	0.0276	0.0175	0.0269	0.0228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3336.88	34	chr17	40818851	.	A	AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	3336.88	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.02;DP=416;ExcessHet=3.1439;FS=16.645;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.509;SOR=1.831	GT:AD:DP:GQ:PL	0/1:22,19:41:99:700,0,892	4	0	2	0
chr17	41818390	41818390	A	G	exonic	FKBP10	.	nonsynonymous SNV	FKBP10:NM_021939:exon4:c.A590G:p.K197R	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	0	1468	52	2	0	56	0.0187166	.	.	YES	256170	not_provided|Osteogenesis_imperfecta_type_11|not_specified	MedGen:C3661900|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	.	0.0630	0.0742812	0.0490	0.1141	0.0209	0.1121	0.0592	0.0395	0.0376	0.0294	0.0480654	7431	154602	rs34764749	0.0418	0.0418	0.0427	0.0410	0.1177	0.0416	0.0415	0.1146	0.1134	0.1177	0.0250	0.0290	0.0994	0.0601	0.0250	0.0386	0.0461	0.0267	0.0654	0.0655	0.0652	0.0657	0.1185	0.0644	0.0639	0.1157	0.1146	0.1185	0.0527	0.0362	0.0308	0.1102	0.0636	0.0170	0.0413	0.0596	0.0307	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.041166	0.23978	N	0.376195	1	0.08975	P	-1.85	0.00263	N	0.82	0.48142	T	1.41	0.00825	N	0.062	0.03392	-0.9829	0.34328	T	0.001	0.00255	T	9	0.0011599958	0.00013	T	.	.	.	0.073	0.21317	.	.	.	.	0.3570979340611472	0.35623	0.208232439265	0.23294	0.296159088612	0.09830	T	0.02456	0.18532	T	-0.702042	0.00035	T	-0.684494	0.06713	T	0.0065881421255934	0.00074	T	0.59644	0.22167	T	0.06820268	0.14838	0.12975565	0.31192	0.051143616	0.09347	0.113098964	0.27292	1.076	0.00122	T	0.04817634735731395	0.00734	0.050	0.00428	B	.;.	.;.	1.319994	0.17239	13.04	0.14319845866811912	0.00312	0.20433	0.21039	N	AEFDBCI	0.128016	0.24562	N	-1.72866782819467	0.00745	0.0321679	-1.52814303354583	0.02130	0.09750636	0.971222005035225	0.29270	0.722319	0.85440	0	0.624146	0.53433	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.53	1.37	0.21200	3.252000	0.51162	-0.642000	0.08072	-0.670000	0.04303	0.999000	0.42656	0.000000	0.08366	0.356000	0.25796	0.42:0.0:0.58:0.0	11.540	0.49916	550	0.72197	FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain	NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|NT5C3B|ACLY|NT5C3B|NT5C3B|NT5C3B|ACLY|ZNF385C|NT5C3B|ZNF385C|NT5C3B|NT5C3B|NT5C3B|NT5C3B|KLHL10|NT5C3B|RP11-156E6.1|NT5C3B	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood	NT5C3B|JUP|NT5C3B|NT5C3B|NT5C3B|NT5C3B|JUP|JUP|NT5C3B	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Lung|Skin_Sun_Exposed_Lower_leg|Stomach	rs34764749	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	0.024673	0.035354	0.024523	0.017544	0.000000	0.025862	0.033537	0.007576	0.08333	1065.83	41	chr17	41818390	.	A	G	1065.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.211;DP=298;ExcessHet=0;FS=1.541;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.396;SOR=0.51	GT:AD:DP:GQ:PL	0/1:68,46:114:99:1076,0,1709	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	0/1:107,111:218:99:2709,0,2466	4	0	2	0
chr17	75844239	75844239	C	T	exonic	UNC13D	.	synonymous SNV	UNC13D:NM_199242:exon1:c.G99A:p.P33P	Hemophagocytic lymphohistiocytosis, familial, 3	0	1500	19	3	0	25	0.00826446	.	.	.	256453	Autoinflammatory_syndrome|not_provided|UNC13D-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_3	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|.|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000599042	0.0013	0.0002	0.002	0	0	0.0016	0.0068	0.0013	0.0001682	26	154602	rs147886860	0.0010	0.0010	0.0009	0.0011	0.0264	0.0010	0.0009	0.0230	0.0217	0.0009	0.0020	0.0113	0.0001	0	0.0264	0.0006	0.0022	0.0016	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0012	0.0010	0.0003	0	0.0017	0.0124	0	9.416e-05	0.0238	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	871.83	33	chr17	75844239	.	C	T	871.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.66;DP=231;ExcessHet=0;FS=2.252;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.104;SOR=0.4	GT:AD:DP:GQ:PL	0/1:27,33:60:99:882,0,734	5	0	1	0
chr17	75844314	75844314	C	T	exonic	UNC13D	.	synonymous SNV	UNC13D:NM_199242:exon1:c.G24A:p.P8P	Hemophagocytic lymphohistiocytosis, familial, 3	0	1500	19	3	0	25	0.00826446	.	.	.	256454	Autoinflammatory_syndrome|UNC13D-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_3|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|.|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000599042	0.0016	0.0002	0.0021	0	0.0002	0.0019	0.0081	0.0014	0.001229	190	154602	rs143320460	0.0010	0.0010	0.0009	0.0011	0.0266	0.0010	0.0009	0.0231	0.0218	0.0009	0.0020	0.0113	2.521e-05	7.697e-05	0.0266	0.0006	0.0022	0.0016	0.0010	0.0010	0.0010	0.0009	0.0017	0.0008	0.0008	0.0012	0.0010	0.0003	0.0011	0.0017	0.0124	0	0.0002	0.0238	0.0007	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.018163	0.010204	0.023161	0.049708	0.000000	0.008621	0.006135	0.007576	0.08333	748.83	33	chr17	75844314	.	C	T	748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.848;SOR=0.742	GT:AD:DP:GQ:PL	0/1:35,31:66:99:759,0,742	5	0	1	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	0/1:71,74:145:99:1936,0,1812	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	1/1:0,110:110:99:3454,330,0	0	3	3	0
chr19	13209372	13209372	G	C	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon45:c.C6469G:p.R2157G,CACNA1A:NM_001127222:exon45:c.C6466G:p.R2156G	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	4	1517	1	0	0	1	0.000329489	.	.	.	797733	EEG_with_focal_epileptiform_discharges|not_provided|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42	Human_Phenotype_Ontology:HP:0010840,Human_Phenotype_Ontology:HP:0011185,MedGen:C4021199|MedGen:C3661900|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.389	0.433139985062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554393704	3.699e-05	3.283e-05	4.045e-05	3.33e-05	0.0002	2.836e-05	2.536e-05	8.7e-05	6.513e-05	3.863e-05	0	0	0	0	0	3.19e-05	7.887e-05	0.0002	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.022	0.60337	D	.	.	.	.	.	.	0.000000	0.00162	N	7739.210000	0.601483	0.32542	D	2.395	0.69210	M	-1.48	0.97583	T	-5.01	0.82450	D	0.259	0.36148	-0.2711	0.75782	T	0.577	0.84764	D	10	0.5237774	0.62792	D	0.43314	0.94021	D	0.389	0.70521	0.367	0.37524	0.851979344464	0.85055	0.42956321060431346	0.42873	0.346501304651	0.36554	0.81663942337	0.84511	D	0.734001	0.92578	D	-0.161307	0.26560	T	-0.190048	0.55586	T	0.895759463310242	0.54736	D	0.883312	0.67118	D	0.64007294	0.74835	0.43784794	0.67190	0.64007294	0.74836	0.43784794	0.67191	-5.709	0.49408	T	0.21799840223473396	0.29348	0.276	0.53587	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.847524	0.23471	16.03	0.90092486141612993	0.19375	0.31115	0.24256	N	AEFDGBHCI	0.246327	0.36710	N	-0.498210821757816	0.22139	1.18006	-0.670901627207533	0.17690	0.9417514	0.999998096444533	0.74766	0.718356	0.82227	0	0.484254	0.07192	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.14	-1.35	0.08638	0.490000	0.22112	1.702000	0.28138	-0.186000	0.09761	0.032000	0.20554	0.999000	0.35428	0.103000	0.18424	0.0:0.0:0.2558:0.7442	10.834	0.45879	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001034	0.005319	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.1667	627.06	38	chr19	13209372	.	G	C	627.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.916;DP=198;ExcessHet=0.4139;FS=1.969;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.222;SOR=0.582	GT:AD:DP:GQ:PL	0/1:23,10:33:99:193,0,519	4	0	2	0
chr19	40718299	40718299	G	C	intronic	ITPKC	.	.	.	.	414	862	226	20	0	266	0.133668	.	.	.	19316	Reclassified_-_variant_of_unknown_significance|ITPKC-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0885	0.0858626	0.1244	0.0338	0.1971	0.0711	0.1537	0.1280	0.1286	0.1256	0.110277	17049	154602	rs28493229	0.1280	0.1232	0.1279	0.1281	0.1858	0.1275	0.1273	0.1816	0.1799	0.0275	0.1858	0.1039	0.1200	0.1451	0.1115	0.1299	0.1233	0.1253	0.1023	0.1024	0.1009	0.1038	0.1441	0.1010	0.1004	0.1391	0.1370	0.0322	0.0274	0.1441	0.1144	0.0744	0.1514	0.1156	0.1295	0.0993	0.1182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	17494.5	250	chr19	40718299	.	G	C	17494.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.72;DP=793;ExcessHet=0;FS=1.586;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.03;ReadPosRankSum=-0.887;SOR=0.953	GT:AD:DP:GQ:PL	1/1:0,199:199:99:6514,597,0	3	2	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.1667	3613.06	37	chr19	55154042	.	C	T	3613.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.129;DP=471;ExcessHet=0.4139;FS=3.007;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.035;SOR=0.55	GT:AD:DP:GQ:PL	0/1:99,95:194:99:2465,0,2584	4	0	2	0
chr20	1980092	1980092	G	C	ncRNA_intronic	PDYN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	349710	Spinocerebellar_ataxia_type_23|not_provided	MONDO:MONDO:0012449,MedGen:C1853250,OMIM:610245,Orphanet:101108|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs565210312	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	8.041e-05	0.0008	0	0	0.0003	0	0.0006	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	7.223e-05	0	0.0017	0	0	9.429e-05	0	0.0007	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	.	.	.	.	.	.	.	.	0.1667	387.11	16	chr20	1980092	.	G	C	387.11	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.393;DP=73;ExcessHet=0.4139;FS=5.029;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.154;SOR=1.432	GT:AD:DP:GQ:PL	0/1:7,9:16:99:254,0,173	4	0	2	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.5833	14975.9	210	chr20	3234173	.	T	G	14975.9	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-0.996;DP=911;ExcessHet=0.7136;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-1.471;SOR=0.745	GT:AD:DP:GQ:PL	0/1:88,83:171:99:2029,0,2242	1	2	3	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	768.99	6	chr20	44429378	.	T	C	768.99	.	AC=8;AF=0.8;AN=10;DP=27;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;QD=34.95;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,7:7:21:254,21,0	1	4	0	1
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	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	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.1667	1406.06	40	chr22	41925447	.	G	A	1406.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.489;DP=267;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.441;SOR=0.823	GT:AD:DP:GQ:PL	0/1:27,28:55:99:642,0,668	4	0	2	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	0/1:17,7:24:99:116,0,421	3	0	3	0
chr22	50525600	50525600	C	G	UTR5	SCO2	NM_001169111:c.-1189G>C	.	.	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Autosomal recessive;Myopia 6, Autosomal dominant	69	1421	24	8	0	40	0.0138793	.	.	.	352679	Mitochondrial_complex_IV_deficiency,_nuclear_type_1|Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1	MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110|MONDO:MONDO:0011451,MedGen:C5399977,OMIM:604377,Orphanet:1561	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00758786	.	.	.	.	.	.	.	.	0.0081835	213	26028	rs145052206	0.0131	0.0122	0.0132	0.0130	0.0172	0.0129	0.0128	0.0136	0.0135	0.0027	0.0037	0.0094	3.08e-05	0.0309	0.0172	0.0139	0.0124	0.0110	0.0109	0.0109	0.0111	0.0106	0.0164	0.0104	0.0103	0.0156	0.0153	0.0025	0	0.0042	0.0133	0.0004	0.0247	0.0068	0.0164	0.0080	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	90.8	5	chr22	50525600	.	C	G	90.8	.	AC=2;AF=0.167;AN=12;DP=26;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=30.27;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:108,9,0	5	1	0	0
chrX	53584256	53584256	T	C	exonic	HUWE1	.	synonymous SNV	HUWE1:NM_031407:exon41:c.A5091G:p.G1697G	Mental retardation, X-linked syndromic, Turner type	2	1488	25	7	0	39	0.0129353	.	.	.	209122	not_provided|not_specified|HUWE1-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.012	.	0.0023	0.0010596	0.0024	0.0001	0.0005	0	0.0004	0.0031	0.0048	0.0046	0.0021863	338	154602	rs149893977	0.0023	0.0023	0.0022	0.0025	0.0102	0.0022	0.0022	0.0078	0.0069	0.0002	0.0004	0.0101	0	0.0006	0.0102	0.0022	0.0029	0.0052	0.0015	0.0015	0.0015	0.0015	0.0053	0.0013	0.0013	0.0032	0.0026	9.757e-05	0	0.0004	0.0098	0	0.0007	0.0138	0.0020	0.0039	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.006207	0.000000	0.003711	0.000000	0.000000	0.011765	0.013514	0.015789	0.08333	1121.83	39	chrX	53584256	.	T	C	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=264;ExcessHet=0;FS=0.816;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.55;SOR=0.879	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1132,0,930	5	0	1	0
chrX	57331759	57331759	C	T	exonic	FAAH2	.	stopgain	FAAH2:NM_001353840:exon4:c.C574T:p.R192X,FAAH2:NM_174912:exon4:c.C574T:p.R192X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs746695435	2.823e-05	2.823e-05	2.859e-05	2.752e-05	3.788e-05	2.023e-05	1.763e-05	2.195e-05	1.928e-05	3.788e-05	0	0	3.312e-05	0	0	3.207e-05	4.339e-05	0	8.999e-06	8.724e-06	1.286e-05	0	3.274e-05	0	0	.	.	3.274e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.028337	0.25618	U	0.290091	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319341	0.84422	D	0.272771	0.86724	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.199474	0.87222	29.2	0.9669549125255511	0.30755	0.22215	0.21671	N	AEFBI	.	.	.	.	.	.	.	.	.	2.1361716257463E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	-2.01	0.07003	0.398000	0.20624	0.110000	0.14769	-2.460000	0.00277	0.944000	0.32806	0.086000	0.22461	0.111000	0.18785	0.4896:0.3684:0.0:0.1419	4.281	0.10281	434	0.80536	Amidase signature domain	.	.	.	.	.	Likely pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1318.83	36	chrX	57331759	.	C	T	1318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.169;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.027;SOR=0.632	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1329,0,732	5	0	1	0
chrX	132072994	132072994	A	G	exonic	STK26	.	nonsynonymous SNV	STK26:NM_001042452:exon9:c.A941G:p.Q314R,STK26:NM_001042453:exon10:c.A896G:p.Q299R,STK26:NM_016542:exon11:c.A1127G:p.Q376R	.	446	1074	2	0	0	2	0.000930233	.	.	.	2424462	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0935784611406	.	.	3.461e-05	0	0	0	0	6.308e-05	0	0	1.94e-05	3	154602	rs759399972	4.467e-05	4.462e-05	4.085e-05	5.243e-05	0.0029	3.419e-05	3.08e-05	0.0017	0.0013	3.794e-05	0	0.0002	0	0	0.0029	2.972e-05	0.0002	0	1.777e-05	1.739e-05	0	5.764e-05	3.75e-05	2.95e-06	1.11e-06	6.22e-06	2.33e-06	0	0	0	0	0	0	0	3.75e-05	0	0	0.089	0.32769	T	0.532	0.10429	T	0.004	0.20242	B	0.01	0.23121	B	0.002655	0.36173	N	0.182940	0.994268	0.23554	N	.	.	.	1.59	0.28836	T	-1.11	0.28703	N	0.191	0.29313	-1.0457	0.15621	T	0.052	0.21960	T	10	0.098068684	0.17706	T	0.093578	0.76098	D	0.066	0.19193	0.19	0.10039	0.308613300994	0.30479	0.42287368273514114	0.42204	0.691555572285	0.60602	0.393458127975	0.24156	T	0.087265	0.37904	T	-0.477547	0.00765	T	-0.708405	0.05378	T	0.0684665812500037	0.08434	T	0.654835	0.32279	T	0.48136508	0.65983	0.42760506	0.66500	0.48136508	0.65984	0.42760506	0.66500	-4.182	0.29746	T	.	.	0.070	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.292680	0.29327	18.09	0.99408641887263482	0.63169	0.86767	0.46119	D	AEFBI	.	.	.	.	.	.	.	.	.	0.720682693102743	0.22928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	5.76	0.90726	2.866000	0.48119	4.700000	0.44405	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.092	0.71871	276	0.89131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004135	0.006849	0.000000	0.015810	0.000000	0.011765	0.000000	0.000000	0.08333	602.83	33	chrX	132072994	.	A	G	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.341;DP=199;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.082;SOR=0.9	GT:AD:DP:GQ:PL	0/1:21,23:44:99:613,0,667	5	0	1	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	95.98	39	chrX	133704277	.	GA	G	95.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.357;DP=241;ExcessHet=1.383;FS=3.973;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.12;SOR=0.389	GT:AD:DP:GQ:PL	0/1:31,6:40:24:24,0,730	3	0	3	0