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 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG01978.hp2 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0004t0007a0001c0006t0007others(15): Show | a0001c0001t0001g0039a0001c0001t0001g0049a0001c0004t0007g0020others(16): Show | 19 | 154 | 0.1234 | 6 | c.288 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32723551 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01261.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0058others(3): Show | a0001c0006t0032a0002c0002t0024a0002c0058t0021others(3): Show | a0001c0006t0032g0119a0002c0002t0024g0077a0002c0058t0021g0062others(3): Show | 6 | 154 | 0.0390 | 6 | c.300 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32724990 | T | TAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02615.hp1 others(7): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0006a0004c0021others(5): Show | a0001c0001t0001a0001c0001t0030a0001c0006t0010others(7): Show | a0001c0001t0001g0029a0001c0001t0030g0016a0001c0006t0010g0144others(7): Show | 10 | 154 | 0.0649 | 6 | c.300 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32764695 | T | TACACAC | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 HG06807.hp1 |
a0004a0005a0009 | a0004c0018a0005c0059a0009c0012 | a0004c0018t0004a0005c0059t0010a0009c0012t0037 | a0004c0018t0004g0065a0005c0059t0010g0028a0009c0012t0037g0123 | 3 | 154 | 0.0195 | 6 | c.337 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32841991 | T | TCCCCTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0006others(39): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(69): Show | a0001c0001t0001g0039a0001c0001t0001g0049a0001c0001t0001g0087others(94): Show | 97 | 154 | 0.6299 | 6 | c.*12 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 4308 | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131241569 | T | TTATATA | intron_variant | MODIFIER | HG00323.hp1 HG01981.hp2 HG03490.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0106a0002c0002t0001g0109a0002c0002t0003g0048others(1): Show | 4 | 304 | 0.0132 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131241577 | A | ATGTGTG | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0087others(5): Show | 8 | 304 | 0.0263 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131247269 | G | GTATATA | intron_variant | MODIFIER | HG00140.hp1 NA18963.hp2 NA18989.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0031a0001c0001t0002g0248a0001c0001t0004g0197others(1): Show | 4 | 304 | 0.0132 | 6 | c.850 others(25): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP8L_chr19_15375050_15423988 | 15395983 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0220a0001c0001t0001g0221others(2): Show | 5 | 254 | 0.0197 | 6 | c.153 others(25): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 12/13 | chr19 | TogoVar | ||||||
AKAP8L_chr19_15375050_15423988 | 15406362 | G | GGAGAGA | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01496.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0018others(19): Show | 22 | 254 | 0.0866 | 6 | c.89- others(21): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15353320 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(46): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(41): Show | 49 | 286 | 0.1713 | 6 | c.*15 others(17): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 64 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15353345 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02738.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0115a0001c0001t0001g0127others(3): Show | 6 | 286 | 0.0210 | 6 | c.*15 others(17): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 39 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15364108 | C | CAAAAAA | intron_variant | MODIFIER | HG02040.hp1 HG02451.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0065others(13): Show | 16 | 286 | 0.0559 | 6 | c.116 others(25): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15380497 | G | GGCGCCT | upstream_gene_variant | MODIFIER | HG02523.hp1 NA19004.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0002g0153 | 3 | 286 | 0.0105 | 6 | c.-76 others(15): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 711 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91941882 | T | TTGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG01243.hp2 others(15): Show |
a0001a0004a0025 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0067others(15): Show | 18 | 306 | 0.0588 | 6 | c.48+ others(19): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91963482 | T | TCACACA | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG02027.hp2 others(17): Show |
a0001a0002a0023 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0079a0001c0001t0001g0102others(17): Show | 20 | 306 | 0.0654 | 6 | c.49- others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91963482 | T | TCTCACA | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01168.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0243a0002c0002t0002g0244a0002c0002t0002g0245others(11): Show | 14 | 306 | 0.0458 | 6 | c.49- others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91980495 | C | CTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01261.hp1 others(29): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0018a0002c0002others(4): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0042others(29): Show | 32 | 306 | 0.1046 | 6 | c.351 others(21): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 3/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92018395 | A | AACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01192.hp2 others(6): Show |
a0001a0005a0018others(1): Show | a0001c0001a0005c0005a0018c0023others(1): Show | a0001c0001t0001a0005c0005t0001a0018c0023t0001others(1): Show | a0001c0001t0001g0125a0001c0001t0001g0143a0001c0001t0001g0144others(6): Show | 9 | 306 | 0.0294 | 6 | c.383 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 12/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92024439 | G | GTATATA | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp1 NA18979.hp2 |
a0002 | a0002c0002a0002c0033 | a0002c0002t0002a0002c0033t0002 | a0002c0002t0002g0255a0002c0002t0002g0300a0002c0033t0002g0275 | 3 | 306 | 0.0098 | 6 | c.414 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 14/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92061584 | C | CTATATA | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01256.hp2 others(14): Show |
a0001a0017 | a0001c0001a0017c0025 | a0001c0001t0001a0017c0025t0001 | a0001c0001t0001g0064a0001c0001t0001g0086a0001c0001t0001g0088others(14): Show | 17 | 306 | 0.0556 | 6 | c.576 others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 23/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92102448 | T | TTACTAC | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG03471.hp2 others(3): Show |
a0001a0005a0014others(1): Show | a0001c0001a0001c0022a0005c0005others(2): Show | a0001c0001t0001a0001c0022t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0180a0001c0022t0001g0126others(3): Show | 6 | 306 | 0.0196 | 6 | c.110 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIP1_chr11_8906189_8925079 | 8910709 | A | AGTGTGT | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18983.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0003 | 3 | 420 | 0.0071 | 6 | c.-52 others(15): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 479 | chr11 | TogoVar | ||||||
AKIP1_chr11_8906189_8925079 | 8912871 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(33): Show | 87 | 420 | 0.2071 | 6 | c.303 others(21): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AKIRIN1_chr1_38986276_39011059 | 39001870 | T | TATTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(389): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(217): Show | 392 | 426 | 0.9202 | 6 | c.496 others(21): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKIRIN2_chr6_87669860_87707233 | 87676596 | A | AACACAC | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01255.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0031 | a0001c0001t0003g0008a0001c0001t0003g0251a0001c0001t0003g0252others(13): Show | 19 | 406 | 0.0468 | 6 | c.530 others(21): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87687439 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0243others(90): Show | 124 | 406 | 0.3054 | 6 | c.236 others(23): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108856721 | C | CACATAA | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02976.hp1 others(1): Show |
a0012 | a0012c0018 | a0012c0018t0005 | a0012c0018t0005g0038a0012c0018t0005g0039a0012c0018t0005g0040others(1): Show | 4 | 398 | 0.0101 | 6 | c.-10 others(23): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114372964 | C | CGGGGGG | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(22): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(8): Show | a0001c0001t0002g0143a0001c0001t0003g0033a0001c0001t0003g0061others(21): Show | 25 | 388 | 0.0644 | 6 | c.141 others(25): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4/21 | chr9 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114392104 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00597.hp1 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0035a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0064others(73): Show | 81 | 388 | 0.2088 | 6 | c.-43 others(17): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 4123 | chr9 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45547055 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02027.hp2 HG02132.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0077a0001c0001t0002g0105 | 8 | 352 | 0.0227 | 6 | c.-41 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 3770 | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01099.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0159others(18): Show | 29 | 352 | 0.0824 | 6 | c.-21 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45549863 | A | ATATCTG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(176): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0217a0001c0001t0002g0001a0001c0001t0002g0003others(99): Show | 179 | 352 | 0.5085 | 6 | c.-12 others(17): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 962 | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45556226 | G | GATAATT | intron_variant | MODIFIER | NA18940.hp2 NA18944.hp1 NA18968.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0031a0001c0001t0001g0127others(6): Show | 15 | 352 | 0.0426 | 6 | c.-7+ others(21): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKR1B15_chr7_134544110_134584869 | 134583222 | C | CAAAACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(114): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(5): Show | a0001c0001t0001g0098a0001c0002t0001g0006a0001c0002t0001g0008others(78): Show | 117 | 404 | 0.2896 | 6 | c.*36 others(17): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 3354 | chr7 | TogoVar | ||||||
AKR1B1_chr7_134437356_134464100 | 134461142 | A | AACACAC | upstream_gene_variant | MODIFIER | HG01978.hp2 HG03017.hp2 NA18992.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0079others(2): Show | 5 | 446 | 0.0112 | 6 | c.-20 others(17): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | ||||||
AKR1C2_chr10_4982775_5008857 | 4996546 | T | TTATATA | intron_variant | MODIFIER | HG02080.hp2 NA18942.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0103 | 3 | 412 | 0.0073 | 6 | c.571 others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
AKR1C2_chr10_4982775_5008857 | 4996547 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(51): Show | 150 | 412 | 0.3641 | 6 | c.571 others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5106753 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(181): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0009others(1): Show | a0001c0001t0001a0003c0004t0001a0006c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(51): Show | 184 | 438 | 0.4201 | 6 | c.930 others(21): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C3_chr10_5089414_5112686 | 5107903 | A | AGAGAAG | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02055.hp2 others(6): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0012a0002c0006t0001g0117a0002c0006t0001g0118 | 9 | 438 | 0.0206 | 6 | c.*40 others(15): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 218 | chr10 | TogoVar | ||||||
AKR1C4_chr10_5191837_5223949 | 5202939 | T | TTGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG01928.hp2 others(22): Show |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0009 | a0001c0001t0001a0001c0001t0005a0006c0007t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0056a0001c0001t0001g0057others(17): Show | 25 | 434 | 0.0576 | 6 | c.253 others(23): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5221401 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01361.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0050others(4): Show | 7 | 434 | 0.0161 | 6 | c.*26 others(17): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2453 | chr10 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19316353 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02559.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(5): Show | 13 | 460 | 0.0283 | 6 | c.-42 others(17): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40244056 | A | AAATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0038 | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0124others(39): Show | 43 | 360 | 0.1194 | 6 | c.288 others(23): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40257586 | A | AACACAC | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00673.hp1 others(71): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0213a0001c0001t0001g0219others(69): Show | 74 | 360 | 0.2056 | 6 | c.47- others(19): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40275764 | T | TGGGGGG | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0131others(18): Show | 21 | 360 | 0.0583 | 6 | c.-85 others(23): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243523260 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp2 HG01261.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0047a0001c0001t0001g0085a0001c0001t0001g0100others(21): Show | 24 | 301 | 0.0797 | 6 | c.125 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243526778 | T | TAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG03669.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0044a0001c0001t0001g0114a0001c0001t0016g0202 | 3 | 301 | 0.0100 | 6 | c.125 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243609334 | C | CTGTGTG | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00735.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0038a0001c0001t0001g0045a0001c0001t0001g0052others(30): Show | 33 | 301 | 0.1096 | 6 | c.696 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243686630 | C | CATATAT | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG04115.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0070a0001c0001t0002g0069a0001c0001t0006g0167others(8): Show | 11 | 301 | 0.0365 | 6 | c.172 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar |