regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA5_chr4_65314567_65675489 | 65650559 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0001 | 1 | 234 | 0.0043 | 27 | c.182 others(44): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 1/16 | chr4 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 96964990 | T | TCTGGTCA others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0045 | 1 | 82 | 0.0122 | 27 | c.451 others(46): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134882757 | C | CCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG03017.hp1 HG04199.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0011a0001c0004t0001g0010 | 2 | 134 | 0.0149 | 27 | c.59- others(44): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01978.hp1 HG01981.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0016others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0065a0001c0002t0001g0021others(5): Show | 8 | 134 | 0.0597 | 27 | c.59- others(44): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134972487 | C | CATTATAT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02738.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001a0001c0004t0002 | a0001c0002t0001g0066a0001c0004t0001g0056a0001c0004t0002g0127 | 3 | 134 | 0.0224 | 27 | c.805 others(46): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(20): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0085 | 2 | 282 | 0.0071 | 27 | c.766 others(44): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18998.hp2 NA19081.hp2 |
a0021a0073a0240 | a0021c0006a0073c0339a0240c0078 | a0021c0006t0007a0073c0339t0009a0240c0078t0002 | a0021c0006t0007g0037a0073c0339t0009g0039a0240c0078t0002g0038 | 3 | 424 | 0.0071 | 27 | c.-46 others(40): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143878413 | G | GCCGCACC others(20): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0020 | a0020c0223 | a0020c0223t0015 | a0020c0223t0015g0388 | 1 | 424 | 0.0024 | 27 | c.-46 others(40): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42965768 | T | TCGTCTCC others(20): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19066.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0259a0001c0001t0014g0273a0001c0001t0014g0274 | 3 | 352 | 0.0085 | 27 | c.332 others(44): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42968954 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18945.hp2 NA19006.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0003a0002c0006t0007 | a0001c0002t0003g0186a0001c0002t0003g0297a0002c0006t0007g0201 | 3 | 352 | 0.0085 | 27 | c.331 others(42): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39724272 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 318 | 0.0031 | 27 | c.230 others(44): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ERBB4_chr2_211370717_212543802 | 211458087 | G | GTGATATA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03834.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0016a0001c0002t0001g0036a0001c0002t0001g0048 | 3 | 56 | 0.0536 | 27 | c.248 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(3): Show | a0001c0001t0002g0024a0001c0001t0003g0017a0001c0001t0023g0012others(3): Show | 6 | 56 | 0.1071 | 27 | c.162 others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211840307 | T | TGATTGTG others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 56 | 0.0179 | 27 | c.422 others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0002t0013 | a0001c0001t0005g0015a0001c0001t0011g0042a0001c0002t0013g0027 | 3 | 56 | 0.0536 | 27 | c.421 others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTCTT others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 56 | 0.0179 | 27 | c.83- others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02258.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0021a0001c0001t0005g0015a0001c0001t0006g0026others(1): Show | 4 | 56 | 0.0714 | 27 | c.83- others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0016a0001c0001t0002g0025a0001c0002t0001g0048 | 3 | 56 | 0.0536 | 27 | c.82+ others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1138131 | A | ATATAATA others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0071a0002c0002t0065 | a0001c0001t0004g0075a0001c0001t0071g0074a0002c0002t0065g0072 | 3 | 162 | 0.0185 | 27 | c.157 others(46): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1493546 | A | ATATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0115 | a0002c0002t0115g0049 | 1 | 162 | 0.0062 | 27 | c.*33 others(38): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3317 | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55691573 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0028 | 1 | 74 | 0.0135 | 27 | c.284 others(46): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55691573 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 74 | 0.0135 | 27 | c.284 others(46): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55828457 | T | TGGCAGCA others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0015others(25): Show | 28 | 74 | 0.3784 | 27 | c.256 others(48): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56186114 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0056 | 1 | 74 | 0.0135 | 27 | c.107 others(48): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45410565 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 420 | 0.0024 | 27 | c.844 others(42): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907836 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0285 | 1 | 392 | 0.0026 | 27 | c.788 others(42): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ERFL_chr19_41902704_41933449 | 41914546 | T | TTCCCTCC others(20): Show |
intron_variant | MODIFIER | NA18964.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0179 | 2 | 330 | 0.0061 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914682 | C | CGTGTCTC others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 330 | 0.0030 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914710 | A | ATCTCTGT others(20): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 330 | 0.0030 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914737 | A | ATCTCTGT others(20): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 330 | 0.0030 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914895 | T | TGTCTCTG others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03492.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0179a0001c0001t0003g0257a0001c0001t0003g0263others(1): Show | 4 | 330 | 0.0121 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914895 | T | TGTCTCTG others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18981.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0182a0001c0001t0001g0184a0001c0001t0003g0249 | 3 | 330 | 0.0091 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914929 | G | GTCTCTGT others(20): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222a0001c0001t0003g0224 | 2 | 330 | 0.0061 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908329 | G | GGAGGTGG others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(79): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(79): Show | 82 | 334 | 0.2455 | 27 | c.156 others(44): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172918821 | C | CTCTGTCC others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 334 | 0.0030 | 27 | c.375 others(44): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 675142 | A | ACGCGGCG others(20): Show |
intron_variant | MODIFIER | HG03486.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0133 | 2 | 378 | 0.0053 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675598 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0252 | 1 | 378 | 0.0027 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675691 | A | ACGCGGCG others(20): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0305 | 1 | 378 | 0.0027 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 676008 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0294 | 1 | 378 | 0.0027 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 676228 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0304 | 1 | 378 | 0.0027 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246a0001c0001t0002g0262a0001c0001t0002g0267others(2): Show | 5 | 378 | 0.0132 | 27 | c.169 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 NA19079.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0005c0004t0001 | a0001c0001t0002g0191a0001c0001t0002g0416a0005c0004t0001g0052others(1): Show | 4 | 442 | 0.0091 | 27 | c.101 others(46): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45577276 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0105 | 1 | 326 | 0.0031 | 27 | c.962 others(44): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 7/14 | chr13 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp1 | a0018 | a0018c0022 | a0018c0022t0001 | a0018c0022t0001g0022 | 1 | 348 | 0.0029 | 27 | c.158 others(34): Show |
p.Glu others(38): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | ||
ERMP1_chr9_5779572_5838117 | 5786080 | T | TCAGGAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0231 | 1 | 378 | 0.0027 | 27 | c.*10 others(38): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 15/15 | 1063 | chr9 | TogoVar | |||||
ERN2_chr16_23685310_23718222 | 23716948 | G | GGAGGTTG others(20): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0256 | 1 | 412 | 0.0024 | 27 | c.-37 others(38): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 3727 | chr16 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0118a0001c0001t0001g0121a0001c0001t0001g0135others(9): Show | 12 | 220 | 0.0546 | 27 | c.58- others(42): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100063092 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 220 | 0.0046 | 27 | c.58- others(42): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0025 | 1 | 446 | 0.0022 | 27 | c.-80 others(36): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151849994 | A | ATATAATT others(20): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18963.hp1 NA18965.hp1 |
a0002 | a0002c0009 | a0002c0009t0002a0002c0009t0003a0002c0009t0006 | a0002c0009t0002g0201a0002c0009t0003g0198a0002c0009t0006g0200 | 3 | 250 | 0.0120 | 27 | c.643 others(44): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |