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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143878203 | ACTCGGAG | A | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01192.hp2 others(6): Show |
a0003a0042a0080others(3): Show | a0003c0008a0003c0031a0042c0088others(4): Show | a0003c0008t0003a0003c0031t0003a0003c0031t0024others(5): Show | a0003c0008t0003g0027a0003c0031t0003g0369a0003c0031t0024g0368others(5): Show | 9 | 424 | 0.0212 | -7 | c.-46 others(22): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143883273 | AAGGGGCC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(31): Show |
a0003a0009a0026others(25): Show | a0003c0008a0003c0031a0009c0178others(28): Show | a0003c0008t0003a0003c0031t0003a0003c0031t0024others(29): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0031t0003g0369others(30): Show | 34 | 424 | 0.0802 | -7 | c.-48 others(18): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 4807 | chr8 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51357392 | ATATATAT | A | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030a0001c0002t0002g0031 | 2 | 152 | 0.0132 | -7 | c.254 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51454049 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(10): Show |
a0002 | a0002c0004a0002c0014 | a0002c0004t0002a0002c0014t0002 | a0002c0004t0002g0004a0002c0004t0002g0005a0002c0004t0002g0006others(10): Show | 13 | 152 | 0.0855 | -7 | c.562 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51475332 | CTCTAACA | C | intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0133a0002c0001t0007g0134a0002c0001t0007g0135 | 3 | 152 | 0.0197 | -7 | c.76- others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51491854 | ATTTAATT | A | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0010 | a0002c0001t0011a0004c0015t0011a0006c0010t0026 | a0002c0001t0011g0130a0002c0001t0011g0131a0002c0001t0011g0132others(2): Show | 5 | 152 | 0.0329 | -7 | c.34- others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55071399 | CTGGGACT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0012others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0012t0001others(7): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0169others(27): Show | 44 | 340 | 0.1294 | -7 | c.-45 others(18): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4469 | chr19 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42908484 | GAAAAAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0024others(2): Show | a0001c0001t0006g0329a0001c0001t0017g0067a0001c0001t0017g0113others(11): Show | 14 | 352 | 0.0398 | -7 | c.742 others(24): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 8/10 | chr13 | TogoVar | ||||||
EPX_chr17_58187726_58210174 | 58203931 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01169.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0003a0003c0004t0002others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0106a0001c0002t0003g0126others(6): Show | 13 | 404 | 0.0322 | -7 | c.194 others(24): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EQTN_chr9_27279654_27302150 | 27284140 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp1 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(71): Show | 168 | 446 | 0.3767 | -7 | c.*57 others(16): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 513 | chr9 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96794171 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0005 | a0004c0004t0001g0017a0004c0004t0001g0018a0004c0004t0001g0037others(32): Show | 42 | 416 | 0.1010 | -7 | c.920 others(22): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 5/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96806623 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01258.hp2 others(6): Show |
a0002a0007a0011 | a0002c0002a0007c0008a0011c0011 | a0002c0002t0008a0007c0008t0003a0011c0011t0001others(1): Show | a0002c0002t0008g0265a0007c0008t0003g0020a0011c0011t0001g0043others(4): Show | 9 | 416 | 0.0216 | -7 | c.-18 others(24): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96922958 | ATGTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(216): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0001a0001c0004t0006a0001c0004t0007others(32): Show | a0001c0001t0001g0178a0001c0001t0001g0215a0001c0004t0006g0128others(185): Show | 219 | 398 | 0.5503 | -7 | c.*53 others(18): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 3256 | chr5 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211414500 | TAAAAAAA | T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02965.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0004g0003a0001c0001t0004g0008a0001c0001t0004g0011others(5): Show | 8 | 56 | 0.1429 | -7 | c.313 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211425357 | TATAAAAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0029 | a0001c0001t0004g0003a0001c0001t0004g0008a0001c0001t0004g0011others(2): Show | 5 | 56 | 0.0893 | -7 | c.272 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211773624 | ATATATAT | A | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0026a0001c0002t0001 | a0001c0001t0024g0038a0001c0001t0026g0052a0001c0002t0001g0036 | 3 | 56 | 0.0536 | -7 | c.556 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211861094 | AAATACAT | A | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0032a0001c0001t0005g0015a0001c0002t0001g0031others(1): Show | 4 | 56 | 0.0714 | -7 | c.422 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212228673 | GTAAACCC | G | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047a0001c0002t0001g0048 | 2 | 56 | 0.0357 | -7 | c.83- others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212349501 | TAAAATAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0003g0049a0001c0001t0009g0023a0001c0001t0010g0022others(2): Show | 5 | 56 | 0.0893 | -7 | c.82+ others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212462081 | CATATACA | C | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047a0001c0002t0001g0048 | 2 | 56 | 0.0357 | -7 | c.82+ others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65964937 | TGTGTGTG | T | intron_variant | MODIFIER | HG00642.hp1 HG02970.hp2 HG04228.hp2 others(5): Show |
a0001a0003a0016 | a0001c0001a0003c0004a0016c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0065others(5): Show | 8 | 306 | 0.0261 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65966680 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02451.hp2 others(12): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0008a0004c0005t0004g0009a0004c0005t0004g0010others(12): Show | 15 | 306 | 0.0490 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65974524 | CCTGTTAT | C | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(1): Show |
a0007a0008 | a0007c0012a0008c0011 | a0007c0012t0011a0008c0011t0011 | a0007c0012t0011g0022a0007c0012t0011g0023a0008c0011t0011g0024others(1): Show | 4 | 306 | 0.0131 | -7 | c.-57 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1002160 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01346.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0008 | a0001c0001t0005a0001c0001t0040a0001c0001t0049others(19): Show | a0001c0001t0005g0041a0001c0001t0040g0150a0001c0001t0049g0157others(20): Show | 23 | 162 | 0.1420 | -7 | c.-15 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1179500 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(24): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0021others(24): Show | a0001c0001t0001g0080a0001c0001t0020g0113a0001c0001t0021g0116others(24): Show | 27 | 162 | 0.1667 | -7 | c.173 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1196976 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01358.hp2 others(18): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(12): Show | a0002c0002t0001g0149a0002c0002t0001g0152a0002c0002t0002g0087others(18): Show | 21 | 162 | 0.1296 | -7 | c.235 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1241847 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(25): Show | a0001c0001t0003g0029a0001c0001t0020g0113a0001c0001t0021g0116others(25): Show | 28 | 162 | 0.1728 | -7 | c.248 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1243149 | TGCAGTCC | T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(28): Show | a0001c0001t0003g0029a0001c0001t0020g0113a0001c0001t0021g0116others(28): Show | 31 | 162 | 0.1914 | -7 | c.248 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1356212 | AAGTGTGT | A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0074a0001c0001t0133others(2): Show | a0001c0001t0005g0041a0001c0001t0074g0039a0001c0001t0133g0094others(2): Show | 5 | 162 | 0.0309 | -7 | c.278 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1386031 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01109.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0008a0001c0001t0040a0001c0001t0058others(33): Show | a0001c0001t0008g0086a0001c0001t0040g0150a0001c0001t0058g0141others(36): Show | 39 | 162 | 0.2407 | -7 | c.292 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1398954 | TTTTTTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01261.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0019a0001c0001t0020others(11): Show | a0001c0001t0011g0034a0001c0001t0019g0120a0001c0001t0020g0113others(11): Show | 14 | 162 | 0.0864 | -7 | c.292 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1400909 | TTTTTGTA | T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0003a0001c0001t0090a0001c0001t0091others(8): Show | a0001c0001t0003g0029a0001c0001t0090g0032a0001c0001t0091g0028others(8): Show | 11 | 162 | 0.0679 | -7 | c.292 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1418661 | CTTTCTTT | C | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG06807.hp1 others(1): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0036a0002c0002t0066a0002c0002t0115others(1): Show | a0002c0002t0036g0158a0002c0002t0066g0139a0002c0002t0115g0049others(1): Show | 4 | 162 | 0.0247 | -7 | c.302 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1487372 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01257.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0058a0002c0002t0035a0002c0002t0048others(3): Show | a0001c0001t0058g0141a0002c0002t0035g0143a0002c0002t0048g0070others(3): Show | 6 | 162 | 0.0370 | -7 | c.321 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55571124 | CAAAAAAA | C | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03831.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0002g0049a0001c0001t0009g0073a0001c0002t0001g0017others(2): Show | 5 | 74 | 0.0676 | -7 | c.*40 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55613982 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0002g0029a0001c0001t0002g0054others(8): Show | 11 | 74 | 0.1487 | -7 | c.*39 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55887454 | TTTCAAAG | T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0021 | 2 | 74 | 0.0270 | -7 | c.256 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55952166 | CACACACA | C | intron_variant | MODIFIER | HG01169.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0050 | 2 | 74 | 0.0270 | -7 | c.226 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 12/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45411849 | ATTTTTGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0011others(123): Show | 156 | 420 | 0.3714 | -7 | c.843 others(24): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45425082 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02055.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(4): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0199others(20): Show | 30 | 420 | 0.0714 | -7 | c.-13 others(18): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 1166 | chr19 | TogoVar | ||||||
ERCC3_chr2_127252290_127299144 | 127266709 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp2 HG02698.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0173a0001c0001t0001g0183others(1): Show | 6 | 350 | 0.0171 | -7 | c.194 others(26): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 12/14 | chr2 | TogoVar | ||||||
ERCC3_chr2_127252290_127299144 | 127295967 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01070.hp2 NA18747.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0029others(5): Show | 8 | 350 | 0.0229 | -7 | c.-18 others(18): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 1824 | chr2 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95903631 | TTAGAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(96): Show |
a0001a0009a0012others(6): Show | a0001c0001a0009c0010a0012c0013others(6): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0016others(91): Show | 99 | 392 | 0.2526 | -7 | c.595 others(24): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ERCC6L2_chr9_95870691_96023447 | 95923942 | GGGTGGGA | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00639.hp2 others(31): Show |
a0001a0014a0022 | a0001c0001a0014c0016a0022c0026 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0032others(31): Show | 34 | 392 | 0.0867 | -7 | c.153 others(24): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 9/18 | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 96002860 | TTTTTCAG | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp2 others(3): Show |
a0008a0010a0020others(1): Show | a0008c0011a0010c0012a0020c0024others(1): Show | a0008c0011t0020a0010c0012t0020a0020c0024t0075others(1): Show | a0008c0011t0020g0015a0010c0012t0020g0370a0010c0012t0020g0371others(2): Show | 6 | 392 | 0.0153 | -7 | c.349 others(26): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ERCC6L_chrX_72199665_72244027 | 72203252 | CTTCCATT | C | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 286 | 0.0035 | -7 | c.*17 others(18): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 1412 | chrX | TogoVar | ||||||
ERCC6L_chrX_72199665_72244027 | 72238948 | TTTGGAGC | T | 5_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0006a0008c0011t0006 | a0001c0001t0006g0085a0008c0011t0006g0084 | 2 | 286 | 0.0070 | -7 | c.-44 others(14): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 1/2 | 38 | chrX | TogoVar | |||||
ERCC6_chr10_49449470_49544121 | 49484670 | TTAGAGTC | T | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG03195.hp2 |
a0014a0021 | a0014c0016a0021c0026 | a0014c0016t0018a0021c0026t0030 | a0014c0016t0018g0035a0021c0026t0030g0330 | 3 | 388 | 0.0077 | -7 | c.182 others(26): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 8/20 | chr10 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60909243 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0002g0195a0001c0001t0002g0197a0001c0001t0005g0250others(9): Show | 12 | 302 | 0.0397 | -7 | c.400 others(24): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
ERF_chr19_42242569_42260128 | 42251442 | TGGGGTGG | T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp2 others(18): Show |
a0001 | a0001c0002a0001c0008a0001c0012 | a0001c0002t0001a0001c0002t0005a0001c0008t0001others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0049a0001c0002t0001g0050others(5): Show | 21 | 268 | 0.0784 | -7 | c.23- others(20): Show |
ERF | ENSG00000105722.10 | transcript | ENST00000222329.9 | protein_coding | 1/3 | chr19 | TogoVar |