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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMID1_chr22_29200896_29264597 | 29221066 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0337 | 1 | 10 | 0.1000 | -26 | c.320 others(43): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2858522 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0083 a0001c0001t0001g0245 a0001c0001t0001g0415 others(85): Show |
88 | 302 | 0.2914 | -26 | c.257 others(45): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99919399 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(57): Show |
a0003 | a0003c0002a0003c0010a0003c0014others(2): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0003others(11): Show | a0003c0002t0001g0012 a0003c0002t0001g0021 a0003c0002t0001g0040 others(57): Show |
60 | 286 | 0.2098 | -26 | c.182 others(45): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88607665 | TACCATCT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 330 | 0.0030 | -26 | c.*81 others(37): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4765 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88607843 | GCCTGCAA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(102): Show |
a0001a0008a0009 | a0001c0001a0008c0011a0009c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 others(100): Show |
105 | 330 | 0.3182 | -26 | c.*79 others(37): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4587 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88608012 | GAGTACCA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 |
2 | 297 | 0.0067 | -26 | c.*77 others(37): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4418 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88608134 | TCCTGCAA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0212 | 1 | 330 | 0.0030 | -26 | c.*76 others(37): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4296 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796454 | ATATTATG others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0215 | 1 | 330 | 0.0030 | -26 | c.-39 others(37): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3502 | chr14 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 24988664 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0006 | a0006c0004 | a0006c0004t0016 | a0006c0004t0016g0064 | 1 | 2 | 0.5000 | -26 | c.594 others(43): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667440 | GGTGATGG others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 NA18977.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0037 a0001c0001t0015g0081 a0001c0001t0015g0166 |
3 | 411 | 0.0073 | -26 | c.*68 others(37): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2877 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667446 | GGTGATGG others(19): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 NA18981.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0170 |
3 | 407 | 0.0074 | -26 | c.*68 others(37): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2871 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247828 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0055 a0001c0001t0003g0118 a0001c0001t0003g0123 others(8): Show |
11 | 148 | 0.0743 | -26 | c.161 others(47): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43780610 | TTGTCTTC others(19): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0110 | 1 | 186 | 0.0054 | -26 | c.-28 others(45): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131751522 | ACTGTTCT others(19): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 276 | 0.0036 | -26 | c.*45 others(37): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 4113 | chr6 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79744894 | TCAAGTGA others(19): Show |
T | downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 428 | 0.0023 | -26 | c.*31 others(37): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 2676 | chr17 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79746195 | TAAAAAAA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03041.hp2 HG03927.hp1 |
a0001a0002 | a0001c0002a0001c0003a0002c0010 | a0001c0002t0001a0001c0003t0005a0002c0010t0001 | a0001c0002t0001g0231 a0001c0003t0005g0062 a0002c0010t0001g0023 |
3 | 29 | 0.1034 | -26 | c.*44 others(37): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3977 | chr17 | TogoVar | |||||||
ENTREP1_chr9_69320215_69397456 | 69340641 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 |
2 | 339 | 0.0059 | -26 | c.471 others(43): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29219614 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 HG03486.hp1 others(3): Show |
a0001a0002a0005 | a0001c0002a0002c0005a0002c0031others(3): Show | a0001c0002t0001a0002c0005t0005a0002c0031t0040others(3): Show | a0001c0002t0001g0082 a0002c0005t0005g0095 a0002c0031t0040g0080 others(3): Show |
6 | 43 | 0.1395 | -26 | c.388 others(45): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29306664 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03471.hp2 |
a0002a0003 | a0002c0005a0003c0014 | a0002c0005t0005a0003c0014t0051 | a0002c0005t0005g0057 a0003c0014t0051g0124 |
2 | 3 | 0.6667 | -26 | c.277 others(45): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41167572 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0046 | 1 | 218 | 0.0046 | -26 | c.387 others(43): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41167580 | GTGTGTAT others(19): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02132.hp1 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004a0001c0004t0010 | a0001c0004t0001g0019 a0001c0004t0001g0026 a0001c0004t0001g0029 others(8): Show |
11 | 260 | 0.0423 | -26 | c.387 others(43): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112367824 | TGGCTGAA others(19): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0226 | 1 | 226 | 0.0044 | -26 | c.99+ others(43): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112408693 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA18979.hp1 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0178 a0001c0002t0003g0179 |
2 | 226 | 0.0088 | -26 | c.99+ others(43): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365478 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | NA18941.hp2 NA19055.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0254 a0002c0002t0001g0255 |
2 | 404 | 0.0050 | -26 | c.-40 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3832 | chr2 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365510 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02280.hp1 NA18948.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0039 a0002c0002t0001g0256 |
4 | 408 | 0.0098 | -26 | c.-39 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3800 | chr2 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365512 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG02818.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0139 a0004c0004t0001g0355 |
2 | 411 | 0.0049 | -26 | c.-39 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3798 | chr2 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365514 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02717.hp2 HG03139.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0001g0146 others(4): Show |
7 | 394 | 0.0178 | -26 | c.-39 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3796 | chr2 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365516 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 418 | 0.0024 | -26 | c.-39 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3794 | chr2 | TogoVar | |||||||
EPCAM_chr2_47364311_47392020 | 47365518 | ATATATAT others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 437 | 0.0023 | -26 | c.-39 others(37): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3792 | chr2 | TogoVar | |||||||
EPG5_chr18_45842609_45972329 | 45937235 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0275 | 1 | 38 | 0.0263 | -26 | c.210 others(45): Show |
EPG5 | ENSG00000152223.16 | transcript | ENST00000282041.11 | protein_coding | 10/43 | chr18 | TogoVar | |||||||
EPHA10_chr1_37710976_37770120 | 37732863 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0031 | 1 | 38 | 0.0263 | -26 | c.149 others(45): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
EPHA2_chr1_16119337_16161069 | 16136655 | GAAGAAGA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01884.hp2 HG02027.hp2 others(21): Show |
a0001a0004 | a0001c0003a0001c0004a0001c0026others(1): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0003t0001g0007 a0001c0003t0001g0041 a0001c0003t0001g0042 others(18): Show |
24 | 310 | 0.0774 | -26 | c.131 others(43): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA2_chr1_16119337_16161069 | 16136692 | GGAAGAAG others(19): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0002t0001a0002c0008t0003 | a0001c0001t0001g0207 a0001c0002t0001g0084 a0001c0002t0001g0210 others(4): Show |
7 | 282 | 0.0248 | -26 | c.131 others(43): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89304117 | GTGGAAAT others(19): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0038 a0002c0002t0008g0039 |
2 | 198 | 0.0101 | -26 | c.815 others(45): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65333530 | AGTGTGTG others(19): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0008 | a0003c0008t0041 | a0003c0008t0041g0056 | 1 | 149 | 0.0067 | -26 | c.279 others(45): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 15/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576038 | GAAAGAAA others(19): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA18993.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0001 | a0001c0001t0027g0140 a0001c0002t0001g0030 a0001c0002t0001g0035 |
3 | 223 | 0.0135 | -26 | c.910 others(45): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0068 a0001c0001t0003g0066 a0001c0002t0003g0044 others(1): Show |
4 | 7 | 0.5714 | -26 | c.160 others(47): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97596884 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0018 | a0001c0003t0011g0011 a0001c0003t0018g0020 |
2 | 82 | 0.0244 | -26 | c.251 others(45): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405813 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 61 | 0.0164 | -26 | c.832 others(43): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22579103 | ATGTGTGC others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0045 | a0001c0045t0019 | a0001c0045t0019g0052 | 1 | 340 | 0.0029 | -26 | c.823 others(43): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134959966 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00673.hp1 others(43): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0062 others(43): Show |
46 | 56 | 0.8214 | -26 | c.805 others(43): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22730980 | TCAGTAAG others(19): Show |
T | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 246 | 0.0041 | -26 | c.61+ others(43): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22803619 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01070.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0083 a0001c0001t0002g0058 a0001c0001t0002g0085 others(27): Show |
30 | 246 | 0.1220 | -26 | c.811 others(45): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27490729 | CACACACA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01167.hp1 others(12): Show |
a0003 | a0003c0006a0003c0007a0003c0035 | a0003c0006t0002a0003c0007t0004a0003c0007t0012others(1): Show | a0003c0006t0002g0302 a0003c0006t0002g0303 a0003c0006t0002g0304 others(12): Show |
15 | 372 | 0.0403 | -26 | c.-47 others(35): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 413 | chr8 | TogoVar | |||||||
EPHX2_chr8_27486143_27550564 | 27525093 | TGTGTGTG others(19): Show |
T | intron_variant | MODIFIER | NA19012.hp1 NA19077.hp2 NA19086.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 a0001c0002t0002g0236 |
3 | 372 | 0.0081 | -26 | c.105 others(43): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19288361 | AAAAACAC others(19): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 280 | 0.0036 | -26 | c.766 others(43): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42911266 | CGCGCGCA others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0192 a0001c0002t0006g0251 a0001c0002t0006g0255 |
3 | 340 | 0.0088 | -26 | c.741 others(43): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42911276 | CGCGCACA others(19): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0054a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0054g0316 a0001c0002t0001g0060 a0001c0002t0003g0224 others(3): Show |
6 | 350 | 0.0171 | -26 | c.741 others(43): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0231 | 1 | 4 | 0.2500 | -26 | c.563 others(45): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
a0002a0004a0008 | a0002c0002a0004c0004a0008c0008 | a0002c0002t0001a0004c0004t0001a0008c0008t0003 | a0002c0002t0001g0001 a0002c0002t0001g0230 a0004c0004t0001g0278 others(2): Show |
6 | 42 | 0.1429 | -26 | c.-37 others(35): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar |