Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03453.hp1 HG03471.hp2 others(1): Show HG00733.hp1 HG03453.hp1 HG03471.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0029 a0001c0001t0003g0162 a0001c0001t0003g0163	4	117	0.0342	26	c.844 others(41): Show c.844-866_844-841dupCACACACACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01123.hp1 others(12): Show HG00323.hp1 HG00609.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01975.hp2 HG02148.hp2 HG02280.hp1 HG02622.hp2 HG03209.hp2 NA18747.hp2 NA18948.hp2 NA18962.hp2 NA19086.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0019	a0001c0001 a0003c0003 a0003c0015 others(2): Show a0001c0001 a0003c0003 a0003c0015 a0005c0006 a0019c0013	a0001c0001t0080 a0003c0003t0012 a0003c0003t0021 others(6): Show a0001c0001t0080 a0003c0003t0012 a0003c0003t0021 a0003c0003t0054 a0003c0003t0059 a0003c0015t0021 a0005c0006t0017 a0005c0006t0032 a0019c0013t0078	a0001c0001t0080g0040 a0003c0003t0012g0262 a0003c0003t0012g0264 others(12): Show a0001c0001t0080g0040 a0003c0003t0012g0262 a0003c0003t0012g0264 a0003c0003t0012g0265 a0003c0003t0012g0266 a0003c0003t0012g0290 a0003c0003t0021g0289 a0003c0003t0021g0291 a0003c0003t0054g0288 a0003c0003t0059g0263 a0003c0015t0021g0292 a0005c0006t0017g0025 a0005c0006t0032g0019 a0005c0006t0032g0024 a0019c0013t0078g0101	15	304	0.0493	26	c.788 others(41): Show c.788+585_788+586insACACAAACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18982.hp1 NA18993.hp1 others(3): Show NA18940.hp1 NA18982.hp1 NA18993.hp1 NA18993.hp2 NA19056.hp1 NA20129.hp1	a0001 a0004 a0024 a0001 a0004 a0024	a0001c0001 a0004c0004 a0024c0029 a0001c0001 a0004c0004 a0024c0029	a0001c0001t0001 a0004c0004t0005 a0024c0029t0094 a0001c0001t0001 a0004c0004t0005 a0024c0029t0094	a0001c0001t0001g0067 a0001c0001t0001g0089 a0004c0004t0005g0250 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0089 a0004c0004t0005g0250 a0004c0004t0005g0251 a0004c0004t0005g0252 a0024c0029t0094g0209	6	348	0.0172	26	c.788 others(41): Show c.788+585_788+586insACACACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907840	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0339 a0002c0002t0003g0339	1	390	0.0026	26	c.788 others(41): Show c.788+585_788+586insACACACACAAACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	96003616	G G	GGGTGCTA others(19): Show GGGTGCTATAGACTATAGCACCCACAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0328 a0002c0002t0007g0328	1	390	0.0026	26	c.349 others(43): Show c.3493-894_3493-869dupGACTATAGCACCCACATGGTGCTATA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49541159	A A	AGACGTGC others(19): Show AGACGTGCTCTGTCTTCCCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	386	0.0026	26	c.-22 others(37): Show c.-2213_-2212insAGAAGAAAGGGAAGACAGAGCACGTC	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding		2039		chr10	TogoVar
ERCC6_chr10_49510198_49544121	49541159	A A	AGACGTGC others(19): Show AGACGTGCTCTGTCTTCCCTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	400	0.0025	26	c.-22 others(37): Show c.-2213_-2212insAGAAGAAAGGGAAGACAGAGCACGTC	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding		2039		chr10	TogoVar
ERFL_chr19_41902704_41933449	41914568	T T	TGTCTCTC others(19): Show TGTCTCTCCCTCCCCTCCATCATCTCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	198	0.0051	26	c.-13 others(43): Show c.-13-1637_-13-1636insGGAGATGATGGAGGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	130	0.0077	26	c.83- others(41): Show c.83-3096_83-3095insATATATATATATGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(19): Show ATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19057.hp2 HG02615.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0003g0145 a0001c0001t0001g0165 a0001c0001t0003g0145	2	131	0.0153	26	c.83- others(41): Show c.83-3096_83-3095insATATATATATGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(19): Show ATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00733.hp2 others(3): Show HG00280.hp2 HG00423.hp2 HG00733.hp2 HG02523.hp2 HG03239.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0002g0174 a0001c0001t0006g0003	6	135	0.0444	26	c.83- others(41): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATGT others(19): Show ATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02129.hp1 HG01928.hp1 HG01928.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0001g0018 a0001c0001t0001g0227 a0001c0001t0001g0245	3	132	0.0227	26	c.83- others(41): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	130	0.0077	26	c.83- others(41): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893913	G G	GTATATAT others(19): Show GTATATATATATATACACATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02647.hp2 others(5): Show HG01109.hp2 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0034	a0001c0001t0001g0295 a0001c0001t0003g0155 a0001c0001t0003g0283 others(5): Show a0001c0001t0001g0295 a0001c0001t0003g0155 a0001c0001t0003g0283 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0266 a0001c0001t0005g0297 a0001c0001t0034g0086	8	297	0.0269	26	c.83- others(41): Show c.83-3088_83-3087insATATATATATATACACATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02109.hp1 HG01168.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0137 a0001c0001t0002g0056 a0001c0001t0002g0137	2	187	0.0107	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	186	0.0054	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 NA18951.hp2 HG03209.hp1 HG03453.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0029 a0001c0001t0001 a0001c0001t0025 a0001c0001t0029	a0001c0001t0001g0304 a0001c0001t0025g0045 a0001c0001t0029g0131 a0001c0001t0001g0304 a0001c0001t0025g0045 a0001c0001t0029g0131	3	188	0.0160	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	186	0.0054	26	c.83- others(41): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTGTAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908331	G G	GGGGGAGG others(19): Show GGGGGAGGGGGGGAGGGGGGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0045 a0001c0001t0025g0045	1	331	0.0030	26	c.156 others(43): Show c.156-1325_156-1324insGAGGGGGGGGAGAGAGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp2 HG02572.hp2 others(4): Show HG00639.hp2 HG02486.hp2 HG02572.hp2 HG02818.hp1 HG02896.hp2 HG02976.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 others(4): Show a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0323 a0001c0003t0001g0293	7	63	0.1111	26	c.389 others(43): Show c.389-3926_389-3925insTATATATATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38429299	C C	CATATGTA others(19): Show CATATGTATATATGTACATATACACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0350 a0001c0001t0002g0350	1	358	0.0028	26	c.237 others(43): Show c.237-5764_237-5739dupATGTGTATATGTACATATATACATAT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERICH1_chr8_659200_736224	676418	G G	GTGAGGAC others(19): Show GTGAGGACAGAGGCGCGGCGGCCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02970.hp1 HG01255.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0314 a0001c0003t0002g0316	2	375	0.0053	26	c.305 others(43): Show c.305-2372_305-2371insGAGGGGCCGCCGCGCCTCTGTCCTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700237	C C	CCACACAC others(19): Show CCACACACGCGCACAGGGCCGCACAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03098.hp1 HG03490.hp1 others(1): Show HG01099.hp1 HG03098.hp1 HG03490.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0002c0005t0002 a0001c0001t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0002g0332 a0002c0005t0001g0234 a0002c0005t0001g0235 others(1): Show a0001c0001t0002g0332 a0002c0005t0001g0234 a0002c0005t0001g0235 a0002c0005t0002g0285	4	354	0.0113	26	c.170 others(43): Show c.170-7626_170-7625insCCTGTGCGGCCCTGTGCGCGTGTGTG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0264 a0001c0002t0002g0264	1	132	0.0076	26	c.169 others(43): Show c.169+7154_169+7179dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(6): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0003 a0003c0004 others(1): Show a0001c0005 a0002c0003 a0003c0004 a0003c0006	a0001c0005t0001 a0002c0003t0001 a0003c0004t0001 others(1): Show a0001c0005t0001 a0002c0003t0001 a0003c0004t0001 a0003c0006t0001	a0001c0005t0001g0043 a0001c0005t0001g0047 a0002c0003t0001g0177 others(6): Show a0001c0005t0001g0043 a0001c0005t0001g0047 a0002c0003t0001g0177 a0003c0004t0001g0143 a0003c0004t0001g0157 a0003c0006t0001g0229 a0003c0006t0001g0230 a0003c0006t0001g0232 a0003c0006t0001g0233	9	179	0.0503	26	c.134 others(45): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(19): Show CATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp2 HG01978.hp1 others(8): Show HG01175.hp2 HG01516.hp2 HG01978.hp1 HG02071.hp2 HG02300.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0015 a0003c0004 others(1): Show a0001c0005 a0001c0015 a0003c0004 a0003c0006	a0001c0005t0001 a0001c0015t0001 a0003c0004t0001 others(1): Show a0001c0005t0001 a0001c0015t0001 a0003c0004t0001 a0003c0006t0001	a0001c0005t0001g0062 a0001c0015t0001g0033 a0001c0015t0001g0068 others(7): Show a0001c0005t0001g0062 a0001c0015t0001g0033 a0001c0015t0001g0068 a0003c0004t0001g0185 a0003c0006t0001g0009 a0003c0006t0001g0206 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0006t0001g0216 a0003c0006t0001g0264	11	181	0.0608	26	c.134 others(45): Show c.1343+1691_1343+1692insATATATATATACATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734517	A A	AAGGAAGG others(19): Show AAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	222	0.0045	26	c.-21 others(37): Show c.-2177_-2176insAGGAAGGAAGGAAGGAAGGAAGGAAG	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2116		chr8	TogoVar
ERMN_chr2_157313631_157330824	157318154	T T	TTATTTTT others(19): Show TTATTTTTACTTATTTTAAAATAAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19087.hp2 HG00673.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	366	0.0055	26	c.31 others(37): Show c.3116_*3117insTACTTATTTTAAAATAAGTAAAAATA	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding		476		chr2	TogoVar
ERO1B_chr1_236210101_236286958	236239809	G G	GTGTGTAT others(19): Show GTGTGTATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG02040.hp2 others(6): Show HG00673.hp2 HG01243.hp2 HG02040.hp2 HG02083.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp2 NA19009.hp2 NA19043.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0011 a0001c0001 a0003c0004 a0008c0011	a0001c0001t0002 a0001c0001t0021 a0001c0001t0058 others(3): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0058 a0001c0001t0059 a0003c0004t0025 a0008c0011t0071	a0001c0001t0002g0089 a0001c0001t0002g0307 a0001c0001t0021g0026 others(6): Show a0001c0001t0002g0089 a0001c0001t0002g0307 a0001c0001t0021g0026 a0001c0001t0058g0095 a0001c0001t0059g0096 a0003c0004t0025g0022 a0003c0004t0025g0024 a0003c0004t0025g0025 a0008c0011t0071g0023	9	289	0.0311	26	c.506 others(43): Show c.506-3412_506-3411insTATATATACACATATATATATACACA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATACAC others(19): Show ATATACACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02896.hp1 others(5): Show HG02258.hp2 HG02486.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0014 a0003c0005t0038 others(2): Show a0003c0005t0011 a0003c0005t0014 a0003c0005t0038 a0003c0005t0039 a0003c0005t0061	a0003c0005t0011g0275 a0003c0005t0014g0271 a0003c0005t0014g0272 others(4): Show a0003c0005t0011g0275 a0003c0005t0014g0271 a0003c0005t0014g0272 a0003c0005t0014g0276 a0003c0005t0038g0011 a0003c0005t0039g0274 a0003c0005t0061g0273	8	379	0.0211	26	c.432 others(43): Show c.432-1820_432-1819insCGTATATATATACGTGTGTGTGTATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(19): Show ATATATATACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	372	0.0027	26	c.432 others(43): Show c.432-1820_432-1819insCGTATATATATACGTGTGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp2 HG03516.hp2 HG02572.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0108 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0108	3	67	0.0448	26	c.286 others(43): Show c.286+9125_286+9126insCTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01175.hp1 others(6): Show HG00642.hp1 HG01069.hp1 HG01175.hp1 HG01433.hp2 HG01934.hp2 HG02056.hp2 NA18955.hp2 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0005g0192 a0001c0001t0005g0193	9	75	0.1200	26	c.58- others(41): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	122	0.0082	26	c.57 others(37): Show c.5728_*5729insTATATAGAGAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	122	0.0082	26	c.57 others(37): Show c.5728_*5729insTATAGAGAGAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0038 a0001c0008t0038	a0001c0008t0038g0025 a0001c0008t0038g0025	1	93	0.0108	26	c.-80 others(35): Show c.-808_-807insAAAAAAAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ESCO2_chr8_27769554_27810316	27805287	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intragenic_variant intragenic_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0145 a0001c0001t0029g0145	1	164	0.0061	26	n.278 others(43): Show n.27805292_27805317dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ESCO2	ENSG00000171320.15	gene_variant	ENSG00000171320.15					chr8	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA20905.hp1 HG02083.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0221 a0001c0002t0001g0194 a0001c0001t0001g0221 a0001c0002t0001g0194	2	10	0.2000	26	c.226 others(43): Show c.2262+538_2262+563dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESR1_chr6_151802682_152108274	151958973	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03540.hp1 others(1): Show HG03098.hp1 HG03130.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0002t0008 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0002t0008 a0001c0002t0009	a0001c0001t0003g0180 a0001c0001t0008g0021 a0001c0002t0008g0196 others(1): Show a0001c0001t0003g0180 a0001c0001t0008g0021 a0001c0002t0008g0196 a0001c0002t0009g0194	4	184	0.0217	26	c.109 others(47): Show c.1096+14486_1096+14487insTGTGTGTGTGTGTGTGTGTGTGTG TG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	243	0.0041	26	c.-47 others(37): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	23	0.0435	26	c.932 others(41): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 NA19057.hp1 others(1): Show HG03130.hp1 HG03540.hp1 NA19057.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0012 a0001c0001t0001 a0001c0001t0004 a0001c0002t0012	a0001c0001t0001g0114 a0001c0001t0001g0230 a0001c0001t0004g0254 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0230 a0001c0001t0004g0254 a0001c0002t0012g0141	4	129	0.0310	26	c.123 others(43): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	173	0.0058	26	c.182 others(45): Show c.1820+4562_1820+4563insATATATATATATATATATTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	84	0.0119	26	c.850 others(43): Show c.850+2876_850+2901dupGAGAGAGAGAGAGAGAGAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp1 HG02109.hp1 others(7): Show HG01361.hp1 HG02004.hp1 HG02109.hp1 NA18965.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18993.hp1 NA19012.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0036 a0001c0002t0002 a0001c0002t0003 a0002c0003t0004	a0001c0001t0001g0230 a0001c0001t0002g0129 a0001c0001t0002g0268 others(7): Show a0001c0001t0001g0230 a0001c0001t0002g0129 a0001c0001t0002g0268 a0001c0001t0002g0310 a0001c0001t0019g0286 a0001c0001t0036g0174 a0001c0002t0002g0099 a0001c0002t0002g0222 a0001c0002t0003g0281 a0002c0003t0004g0253	10	38	0.2632	26	c.851 others(43): Show c.851-1992_851-1967dupACACACACACACACACACACACACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01071.hp1 others(22): Show HG00597.hp2 HG00609.hp2 HG01071.hp1 HG01074.hp1 HG01516.hp1 HG01928.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02257.hp2 HG02293.hp2 HG02698.hp2 HG02809.hp2 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03704.hp2 HG03927.hp2 NA18941.hp2 NA18955.hp2 NA19043.hp1 NA19066.hp1 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0007t0002 a0001c0008t0002	a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0112 others(22): Show a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0112 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0203 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0040 a0001c0002t0002g0061 a0001c0002t0002g0078 a0001c0002t0002g0120 a0001c0002t0002g0159 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0247 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0004g0268 a0001c0002t0008g0272 a0001c0007t0002g0179 a0001c0008t0002g0173	25	61	0.4098	26	c.113 others(45): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516636	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp2 HG00544.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0190 a0001c0001t0005g0090 a0001c0001t0001g0190 a0001c0001t0005g0090	2	168	0.0119	26	c.113 others(45): Show c.1132+2490_1132+2515dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216682709	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 NA18978.hp1 HG00738.hp1 HG01928.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0107 a0001c0002t0002g0198 a0001c0002t0002g0275 a0001c0001t0003g0107 a0001c0002t0002g0198 a0001c0002t0002g0275	3	76	0.0395	26	c.57- others(41): Show c.57-5244_57-5219dupACACACACACACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729568	A A	AGAGGGGC others(19): Show AGAGGGGCAAGTGTGGAGGTGCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02970.hp2 others(3): Show HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0003 a0001c0014 a0003c0003	a0001c0014t0015 a0003c0003t0004 a0003c0003t0024 a0001c0014t0015 a0003c0003t0004 a0003c0003t0024	a0001c0014t0015g0003 a0003c0003t0004g0181 a0003c0003t0004g0186 others(2): Show a0001c0014t0015g0003 a0003c0003t0004g0181 a0003c0003t0004g0186 a0003c0003t0004g0187 a0003c0003t0024g0182	6	338	0.0178	26	c.46 others(37): Show c.4638_*4639insCCCCAGCACCTCCACACTTGCCCCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1428		chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	226	0.0044	26	c.732 others(41): Show c.732+538_732+539insATATATATATATATATATATATTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar

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