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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP6_chr14_32324298_32842684 | 32690076 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 NA20752.hp2 |
a0003a0011 | a0003c0057a0011c0016 | a0003c0057t0026a0011c0016t0002 | a0003c0057t0026g0003a0011c0016t0002g0085a0011c0016t0002g0088 | 3 | 154 | 0.0195 | -12 | c.288 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32728200 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0025 | 1 | 154 | 0.0065 | -12 | c.300 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32728348 | TTCTATCT others(5): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0066 | 1 | 154 | 0.0065 | -12 | c.300 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32745485 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG01978.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0046a0001c0001t0047a0002c0002t0001others(7): Show | a0001c0001t0046g0004a0001c0001t0047g0034a0002c0002t0001g0010others(9): Show | 12 | 154 | 0.0779 | -12 | c.337 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32817451 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 NA18522.hp2 others(1): Show |
a0006a0012 | a0006c0008a0012c0052 | a0006c0008t0004a0006c0008t0012a0012c0052t0012 | a0006c0008t0004g0114a0006c0008t0004g0117a0006c0008t0012g0090others(1): Show | 4 | 154 | 0.0260 | -12 | c.358 others(31): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828525 | TCTCTCAC others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01346.hp1 others(15): Show |
a0002a0006a0010others(3): Show | a0002c0002a0002c0009a0006c0008others(6): Show | a0002c0002t0003a0002c0002t0014a0002c0002t0041others(10): Show | a0002c0002t0003g0074a0002c0002t0003g0082a0002c0002t0003g0086others(15): Show | 18 | 154 | 0.1169 | -12 | c.*43 others(29): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131143740 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01516.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135a0002c0002t0001g0136a0002c0002t0001g0181others(1): Show | 4 | 304 | 0.0132 | -12 | c.20- others(27): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131161644 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0052a0002c0002t0003g0119 | 2 | 304 | 0.0066 | -12 | c.291 others(29): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131241577 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0218a0001c0001t0010g0185 | 2 | 304 | 0.0066 | -12 | c.850 others(31): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01243.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0023a0001c0001t0034others(3): Show | a0001c0001t0003g0058a0001c0001t0023g0174a0001c0001t0023g0175others(4): Show | 7 | 304 | 0.0230 | -12 | c.850 others(31): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131253659 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0005g0092a0001c0001t0005g0156a0001c0001t0005g0224others(11): Show | 14 | 304 | 0.0461 | -12 | c.851 others(31): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP8_chr19_15348385_15384787 | 15353326 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 286 | 0.0035 | -12 | c.*15 others(23): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 58 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15364057 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(243): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(214): Show | 246 | 286 | 0.8601 | -12 | c.116 others(31): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91963482 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0296 | 1 | 306 | 0.0033 | -12 | c.49- others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91988297 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0296 | 1 | 306 | 0.0033 | -12 | c.352 others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 3/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91998418 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0287a0007c0007t0002g0302a0007c0007t0002g0303others(1): Show | 4 | 306 | 0.0131 | -12 | c.931 others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 7/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92014531 | AGGCATTG others(5): Show |
A | intron_variant | MODIFIER | NA19086.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0191 | 1 | 306 | 0.0033 | -12 | c.361 others(29): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 10/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92018395 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 306 | 0.0033 | -12 | c.383 others(31): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 12/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92102192 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0015 | a0015c0032 | a0015c0032t0002 | a0015c0032t0002g0239 | 1 | 306 | 0.0033 | -12 | c.110 others(31): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92102448 | TTACTACT others(5): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 306 | 0.0033 | -12 | c.110 others(31): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIP1_chr11_8906189_8925079 | 8907490 | AAAATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0002g0001others(31): Show | 111 | 420 | 0.2643 | -12 | c.-37 others(23): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 3698 | chr11 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38987489 | CTTATTTA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG02080.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0161a0001c0001t0001g0163others(15): Show | 28 | 426 | 0.0657 | -12 | c.-38 others(23): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3786 | chr1 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87676447 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp2 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0243others(5): Show | 10 | 406 | 0.0246 | -12 | c.530 others(27): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87676596 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 406 | 0.0025 | -12 | c.530 others(27): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87691440 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0047a0001c0002t0006g0048a0001c0002t0006g0049others(10): Show | 13 | 406 | 0.0320 | -12 | c.236 others(29): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87706488 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 406 | 0.0025 | -12 | c.-48 others(23): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 4256 | chr6 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108828087 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0318 | 1 | 398 | 0.0025 | -12 | c.183 others(29): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114342859 | GATGAATG others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 HG02055.hp2 others(8): Show |
a0009a0012a0023 | a0009c0013a0009c0047a0012c0018others(2): Show | a0009c0013t0001a0009c0013t0013a0009c0047t0029others(4): Show | a0009c0013t0001g0319a0009c0013t0001g0320a0009c0013t0013g0211others(8): Show | 11 | 388 | 0.0284 | -12 | c.375 others(29): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114369666 | TAGCATCA others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01243.hp2 others(34): Show |
a0002a0003a0005others(5): Show | a0002c0002a0002c0031a0003c0006others(8): Show | a0002c0002t0005a0002c0031t0001a0003c0006t0016others(14): Show | a0002c0002t0005g0321a0002c0031t0001g0223a0003c0006t0016g0220others(31): Show | 37 | 388 | 0.0954 | -12 | c.141 others(31): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4/21 | chr9 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02717.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0001g0129a0001c0001t0001g0130others(3): Show | 7 | 352 | 0.0199 | -12 | c.-21 others(23): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45574617 | GCTTTGGT others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 352 | 0.0028 | -12 | c.*46 others(23): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 4569 | chr1 | TogoVar | ||||||
AKR1B10_chr7_134522567_134546412 | 134528726 | CAAGAAAG others(5): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18977.hp1 NA19064.hp1 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0001a0002c0003t0001 | a0001c0012t0001g0087a0002c0003t0001g0041 | 3 | 448 | 0.0067 | -12 | c.66+ others(25): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B10_chr7_134522567_134546412 | 134535585 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 448 | 0.0022 | -12 | c.430 others(29): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B15_chr7_134544110_134584869 | 134562832 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01261.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0060a0001c0001t0001g0125others(13): Show | 24 | 404 | 0.0594 | -12 | c.-22 others(29): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B15_chr7_134544110_134584869 | 134562879 | TTTCTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0095 | 1 | 404 | 0.0025 | -12 | c.-22 others(29): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B1_chr7_134437356_134464100 | 134461142 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18981.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0012a0001c0007t0001g0098 | 5 | 446 | 0.0112 | -12 | c.-20 others(23): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5101317 | TTATTTAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0041 | 4 | 438 | 0.0091 | -12 | c.571 others(27): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5202939 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0062a0001c0001t0001g0193others(2): Show | 7 | 434 | 0.0161 | -12 | c.253 others(29): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138100088 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064a0001c0001t0003g0086 | 2 | 426 | 0.0047 | -12 | c.456 others(29): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138101149 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01978.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024a0001c0001t0036 | a0001c0001t0004g0130a0001c0001t0004g0136a0001c0001t0004g0150others(4): Show | 7 | 426 | 0.0164 | -12 | c.456 others(29): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19312148 | AGCCGGGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0031 | 1 | 460 | 0.0022 | -12 | c.-36 others(19): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 5 | chr1 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19316353 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01106.hp1 others(3): Show |
a0001a0005a0015 | a0001c0001a0001c0009a0005c0005others(1): Show | a0001c0001t0001a0001c0009t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0052a0001c0009t0001g0160a0001c0009t0001g0163others(2): Show | 6 | 460 | 0.0130 | -12 | c.-42 others(23): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | ||||||
AKT1S1_chr19_49864039_49882355 | 49865551 | ACTTTGGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 420 | 0.0048 | -12 | c.*43 others(23): Show |
AKT1S1 | ENSG00000204673.11 | transcript | ENST00000344175.10 | protein_coding | 3487 | chr19 | TogoVar | ||||||
AKT1_chr14_104764349_104800748 | 104782774 | ACACAGAC others(5): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 386 | 0.0026 | -12 | c.47- others(27): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 3/14 | chr14 | TogoVar | ||||||
AKT1_chr14_104764349_104800748 | 104786426 | CGGGGCTC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0025others(171): Show | 208 | 386 | 0.5389 | -12 | c.46+ others(27): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 3/14 | chr14 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40260628 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0231a0001c0001t0001g0240a0001c0001t0001g0248others(6): Show | 9 | 360 | 0.0250 | -12 | c.47- others(27): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40288735 | TTGATACC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 360 | 0.0028 | -12 | c.-36 others(23): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 3391 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40290248 | AAAATAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(116): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0074a0001c0001t0002g0001a0001c0001t0002g0002others(111): Show | 119 | 360 | 0.3306 | -12 | c.-51 others(23): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4904 | chr19 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525768 | TAAGAAAG others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01261.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0021others(4): Show | a0001c0001t0003g0031a0001c0001t0003g0055a0001c0001t0003g0057others(16): Show | 19 | 301 | 0.0631 | -12 | c.125 others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285a0001c0001t0005g0288a0001c0001t0005g0290others(3): Show | 6 | 301 | 0.0199 | -12 | c.125 others(33): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar |