view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPSTI1_chr13_42881388_42997241 | 42968954 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18940.hp1 NA18960.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001a0001c0002t0005 | a0001c0001t0013g0131 a0001c0002t0001g0114 a0001c0002t0005g0127 |
3 | 352 | 0.0085 | 13 | c.331 others(28): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPX_chr17_58187726_58210174 | 58194530 | A | ATTAATTA others(6): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0031 | a0031c0034 | a0031c0034t0001 | a0031c0034t0001g0074 | 1 | 404 | 0.0025 | 13 | c.595 others(28): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96874138 | G | GAAAGAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 398 | 0.0025 | 13 | c.-25 others(24): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2361 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96899289 | T | TCCCACCC others(6): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0070 | 1 | 398 | 0.0025 | 13 | c.150 others(30): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96911866 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 398 | 0.0025 | 13 | c.235 others(30): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39724272 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 318 | 0.0031 | 13 | c.230 others(30): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56091300 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0047 | 1 | 392 | 0.0026 | 13 | c.111 others(32): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 9/27 | chr12 | TogoVar | |||||||
ERBB3_chr12_56075165_56108505 | 56100125 | T | TGTAAGCT others(6): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0011 | a0011c0013 | a0011c0013t0002 | a0011c0013t0002g0115 | 1 | 392 | 0.0026 | 13 | c.313 others(28): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211560262 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0051 | 1 | 56 | 0.0179 | 13 | c.248 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211597667 | C | CTTTTACA others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(51): Show |
54 | 56 | 0.9643 | 13 | c.230 others(34): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | 13 | c.162 others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211721443 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0007g0043 |
3 | 56 | 0.0536 | 13 | c.883 others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 56 | 0.0179 | 13 | c.421 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211977531 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02965.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0007g0043 others(1): Show |
4 | 56 | 0.0714 | 13 | c.235 others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212187421 | T | TAAATAAA others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0027 | 1 | 56 | 0.0179 | 13 | c.83- others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212188233 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 56 | 0.0179 | 13 | c.83- others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212240637 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 56 | 0.0179 | 13 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212240665 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0050 |
2 | 56 | 0.0357 | 13 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212267597 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0029 | 1 | 56 | 0.0179 | 13 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212286767 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG03239.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0005g0035 a0001c0001t0015g0034 a0001c0002t0001g0031 others(1): Show |
4 | 56 | 0.0714 | 13 | c.83- others(32): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212474822 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 56 | 0.0179 | 13 | c.82+ others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212474839 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0009 | 1 | 56 | 0.0179 | 13 | c.82+ others(30): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65965382 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01934.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0185 a0002c0003t0005g0186 |
2 | 306 | 0.0065 | 13 | c.-57 others(32): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1126986 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0133a0002c0002t0127 | a0001c0001t0133g0094 a0002c0002t0127g0155 |
2 | 162 | 0.0124 | 13 | c.156 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1146308 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0007 | a0002c0007t0059 | a0002c0007t0059g0071 | 1 | 162 | 0.0062 | 13 | c.173 others(32): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196806 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 162 | 0.0062 | 13 | c.235 others(32): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1208957 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0039 | 1 | 162 | 0.0062 | 13 | c.235 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1225449 | T | TAAAACAC others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02735.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0068a0001c0001t0132a0002c0002t0089 | a0001c0001t0068g0083 a0001c0001t0132g0103 a0002c0002t0089g0037 |
3 | 162 | 0.0185 | 13 | c.235 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1255621 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0039 | 1 | 162 | 0.0062 | 13 | c.248 others(32): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1341069 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0031 | 1 | 162 | 0.0062 | 13 | c.278 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1345187 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01261.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(15): Show | a0001c0001t0001g0080 a0001c0001t0011g0034 a0001c0001t0020g0113 others(15): Show |
18 | 162 | 0.1111 | 13 | c.278 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1346948 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01891.hp1 others(13): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0014a0001c0001t0049others(13): Show | a0001c0001t0005g0041 a0001c0001t0014g0036 a0001c0001t0049g0157 others(13): Show |
16 | 162 | 0.0988 | 13 | c.278 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0135 | a0001c0001t0040g0150 a0002c0002t0135g0093 |
2 | 162 | 0.0124 | 13 | c.278 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1386651 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0013a0001c0001t0049a0001c0001t0068others(8): Show | a0001c0001t0013g0015 a0001c0001t0049g0157 a0001c0001t0068g0083 others(8): Show |
11 | 162 | 0.0679 | 13 | c.292 others(34): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1402614 | A | AACACCAC others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0060 | a0002c0002t0060g0040 | 1 | 162 | 0.0062 | 13 | c.292 others(32): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1487539 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0023a0002c0002t0037others(1): Show | a0001c0001t0009g0007 a0001c0001t0023g0162 a0002c0002t0037g0042 others(1): Show |
4 | 162 | 0.0247 | 13 | c.321 others(32): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493546 | A | ATATATAT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0026a0002c0002t0135 | a0002c0002t0026g0115 a0002c0002t0135g0093 |
2 | 162 | 0.0124 | 13 | c.*33 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3317 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493548 | A | ATATATAT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG01517.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0105 | a0001c0001t0007g0044 a0001c0001t0007g0048 a0002c0002t0105g0148 |
3 | 162 | 0.0185 | 13 | c.*33 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3319 | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55539415 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0069 a0001c0001t0005g0053 |
2 | 74 | 0.0270 | 13 | c.*40 others(32): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55553011 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02738.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0052 a0001c0001t0003g0051 a0001c0002t0001g0006 others(1): Show |
4 | 74 | 0.0541 | 13 | c.*40 others(32): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55729837 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03225.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0013 a0001c0001t0002g0049 a0001c0001t0002g0057 others(1): Show |
4 | 74 | 0.0541 | 13 | c.271 others(32): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56276459 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03195.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042 |
3 | 74 | 0.0405 | 13 | c.107 others(34): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56340579 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 74 | 0.0135 | 13 | c.658 others(32): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45410565 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02897.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0224 others(1): Show |
4 | 420 | 0.0095 | 13 | c.844 others(28): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC3_chr2_127252290_127299144 | 127296002 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 350 | 0.0029 | 13 | c.-19 others(24): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 1859 | chr2 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95952166 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0011others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0045others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0071 a0001c0001t0022g0005 others(7): Show |
12 | 392 | 0.0306 | 13 | c.184 others(32): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L_chrX_72199665_72244027 | 72233721 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 286 | 0.0035 | 13 | c.68+ others(28): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 1/1 | chrX | TogoVar | |||||||
ERCC8_chr5_60861454_60950070 | 60909243 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0028 | 1 | 302 | 0.0033 | 13 | c.400 others(30): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
EREG_chr4_74360145_74393749 | 74363493 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0024others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(16): Show |
20 | 358 | 0.0559 | 13 | c.-18 others(24): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 1651 | chr4 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908318 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0076 others(4): Show |
7 | 334 | 0.0210 | 13 | c.156 others(30): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar |