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 | 32687400 | ATCTCTC | A | intron_variant | MODIFIER | HG00099.hp1 HG02074.hp1 HG02145.hp2 others(17): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(16): Show | a0001c0001t0001g0039a0001c0001t0001g0049a0001c0001t0008g0129others(17): Show | 20 | 154 | 0.1299 | -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 | 32690076 | TACACAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007 | a0001c0001t0006a0001c0004t0050a0004c0007t0010 | a0001c0001t0006g0045a0001c0004t0050g0146a0004c0007t0010g0132others(1): Show | 4 | 154 | 0.0260 | -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 | 32723553 | GTGTTTA | G | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp2 |
a0004a0012 | a0004c0021a0012c0052 | a0004c0021t0004a0012c0052t0012 | a0004c0021t0004g0131a0012c0052t0012g0141 | 2 | 154 | 0.0130 | -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 | 32728200 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG01981.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0046a0001c0004t0007a0002c0002t0001others(7): Show | a0001c0001t0046g0004a0001c0004t0007g0013a0002c0002t0001g0052others(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 | 32745461 | TTCTCTC | T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02486.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0025a0004c0024others(1): Show | a0001c0001t0006a0002c0025t0004a0004c0024t0031others(1): Show | a0001c0001t0006g0045a0002c0025t0004g0115a0004c0024t0031g0113others(1): Show | 4 | 154 | 0.0260 | -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 | 32755511 | AATTATT | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(3): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0004a0005c0050others(3): Show | a0001c0001t0017a0001c0004t0007a0005c0050t0007others(3): Show | a0001c0001t0017g0112a0001c0004t0007g0020a0005c0050t0007g0150others(3): Show | 6 | 154 | 0.0390 | -6 | c.337 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32764695 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(5): Show |
a0001a0007a0009others(2): Show | a0001c0001a0001c0004a0007c0015others(3): Show | a0001c0001t0001a0001c0001t0017a0001c0004t0001others(5): Show | a0001c0001t0001g0029a0001c0001t0017g0112a0001c0004t0001g0145others(5): Show | 8 | 154 | 0.0520 | -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 | 32817451 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001a0002a0004others(21): Show | a0001c0001a0001c0004a0001c0006others(36): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(70): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0049others(98): Show | 101 | 154 | 0.6558 | -6 | c.358 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828529 | TCACACA | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02615.hp1 others(8): Show |
a0002a0003a0004others(2): Show | a0002c0025a0003c0017a0004c0007others(5): Show | a0002c0025t0004a0003c0017t0002a0004c0007t0010others(5): Show | a0002c0025t0004g0115a0003c0017t0002g0023a0004c0007t0010g0132others(8): Show | 11 | 154 | 0.0714 | -6 | c.*43 others(23): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131161644 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0104a0001c0001t0001g0110others(33): Show | 36 | 304 | 0.1184 | -6 | c.291 others(23): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01891.hp1 others(30): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(30): Show | 33 | 304 | 0.1086 | -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 | 15406362 | GGAGAGA | G | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0202a0001c0001t0001g0203others(1): Show | 4 | 254 | 0.0158 | -6 | c.89- others(21): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91956399 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(90): Show |
a0002a0003a0008others(7): Show | a0002c0002a0002c0033a0003c0003others(8): Show | a0002c0002t0002a0002c0002t0003a0002c0033t0002others(9): Show | a0002c0002t0002g0213a0002c0002t0002g0214a0002c0002t0002g0215others(90): Show | 93 | 306 | 0.3039 | -6 | c.48+ others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91963482 | TCACACA | T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01074.hp1 others(40): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0018a0003c0003others(4): Show | a0001c0001t0001a0001c0018t0001a0003c0003t0002others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(40): Show | 43 | 306 | 0.1405 | -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 | 91998418 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01928.hp2 HG02109.hp2 others(12): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0012 | a0002c0002t0002a0003c0003t0002a0009c0012t0002 | a0002c0002t0002g0215a0002c0002t0002g0219a0002c0002t0002g0228others(12): Show | 15 | 306 | 0.0490 | -6 | c.931 others(23): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 7/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92018395 | AACACAC | A | intron_variant | MODIFIER | HG04228.hp2 NA19086.hp1 NA19240.hp1 |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0010 | a0001c0001t0001a0004c0004t0001a0010c0010t0001 | a0001c0001t0001g0095a0004c0004t0001g0192a0010c0010t0001g0191 | 3 | 306 | 0.0098 | -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 | 92018437 | CACACAG | C | intron_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG01169.hp1 others(16): Show |
a0002a0012 | a0002c0002a0012c0030 | a0002c0002t0002a0002c0002t0003a0012c0030t0002 | a0002c0002t0002g0220a0002c0002t0002g0223a0002c0002t0002g0225others(16): Show | 19 | 306 | 0.0621 | -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 | 92061584 | CTATATA | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01070.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0033others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0032a0001c0001t0001g0033others(17): Show | 20 | 306 | 0.0654 | -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 | TTACTAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0018others(14): Show | a0001c0001t0001a0001c0008t0001a0001c0018t0001others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | 306 | 0.5131 | -6 | c.110 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | ATTTTTT | A | intron_variant | MODIFIER | HG02165.hp1 HG02647.hp2 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0159a0001c0001t0001g0165a0001c0001t0001g0166others(4): Show | 7 | 426 | 0.0164 | -6 | c.220 others(23): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKNAD1_chr1_108810901_108862094 | 108825200 | ATGAGAG | A | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0031 | a0004c0006a0004c0008a0004c0043others(2): Show | a0004c0006t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0006t0001g0018a0004c0006t0001g0026a0004c0006t0001g0028others(23): Show | 32 | 398 | 0.0804 | -6 | c.193 others(25): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108825232 | AAGTGCT | A | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(17): Show |
a0004 | a0004c0006a0004c0008a0004c0043 | a0004c0006t0001a0004c0008t0001a0004c0008t0002others(1): Show | a0004c0006t0001g0159a0004c0006t0001g0163a0004c0006t0001g0260others(14): Show | 20 | 398 | 0.0503 | -6 | c.193 others(25): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/15 | chr1 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114345060 | CATATAT | C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01496.hp2 others(39): Show |
a0003a0005a0016others(1): Show | a0003c0006a0003c0011a0005c0005others(3): Show | a0003c0006t0001a0003c0006t0010a0003c0006t0015others(14): Show | a0003c0006t0001g0018a0003c0006t0010g0094a0003c0006t0010g0237others(36): Show | 42 | 388 | 0.1083 | -6 | c.366 others(23): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 18/21 | chr9 | TogoVar | ||||||
AKR1B1_chr7_134437356_134464100 | 134461142 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0028others(11): Show | 19 | 446 | 0.0426 | -6 | c.-20 others(17): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5101457 | TCAAAGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(205): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0011a0003c0004others(3): Show | a0001c0001t0001a0002c0011t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(57): Show | 208 | 438 | 0.4749 | -6 | c.571 others(21): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5202939 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(17): Show | 51 | 434 | 0.1175 | -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 | 5204790 | CACAGAT | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp2 others(46): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0023others(20): Show | 49 | 434 | 0.1129 | -6 | c.369 others(21): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5221427 | GAAGAAA | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp2 others(34): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0023others(17): Show | 37 | 434 | 0.0853 | -6 | c.*26 others(17): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2479 | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138081506 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0028others(81): Show | 95 | 426 | 0.2230 | -6 | c.93+ others(21): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1E2_chr10_4821207_4853062 | 4827075 | GAAAAAA | G | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0140 | 10 | 358 | 0.0279 | -6 | c.39+ others(19): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR7A2_chr1_19298965_19317144 | 19316353 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02451.hp1 NA19003.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0091a0001c0001t0001g0155others(1): Show | 4 | 460 | 0.0087 | -6 | c.-42 others(17): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | ||||||
AKT2_chr19_40225317_40290345 | 40270401 | CAGAGTG | C | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01255.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0009others(45): Show | 51 | 360 | 0.1417 | -6 | c.-84 others(23): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243523260 | AACACAC | A | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140a0001c0001t0001g0143a0001c0001t0001g0154others(4): Show | 7 | 301 | 0.0233 | -6 | c.125 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00733.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0001g0082others(45): Show | 48 | 301 | 0.1595 | -6 | c.125 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527932 | CACACAG | C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0239a0001c0001t0001g0242a0001c0001t0001g0254others(4): Show | 7 | 301 | 0.0233 | -6 | c.125 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243608743 | CTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0211a0001c0001t0001g0240a0001c0001t0001g0257others(3): Show | 6 | 301 | 0.0199 | -6 | c.696 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243609334 | CTGTGTG | C | intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(1): Show | a0001c0001t0001g0247a0001c0001t0003g0275a0001c0001t0028g0037others(1): Show | 4 | 301 | 0.0133 | -6 | c.696 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243620543 | GGAGACA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0065a0001c0001t0001g0140a0001c0001t0001g0141others(95): Show | 98 | 301 | 0.3256 | -6 | c.562 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243649313 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0154others(63): Show | 66 | 301 | 0.2193 | -6 | c.285 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATA | T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02040.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0178a0001c0001t0002g0076a0001c0001t0002g0153others(11): Show | 14 | 301 | 0.0465 | -6 | c.172 others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0046others(20): Show | 23 | 301 | 0.0764 | -6 | c.47- others(21): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243750408 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(81): Show | 84 | 301 | 0.2791 | -6 | c.47- others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243803645 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0048others(93): Show | 96 | 301 | 0.3189 | -6 | c.46+ others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243850045 | ACGGCGG | A | 5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0020others(3): Show | a0001c0001t0005g0285a0001c0001t0005g0288a0001c0001t0005g0289others(16): Show | 19 | 301 | 0.0631 | -6 | c.-12 others(15): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 1/14 | 6876 | chr1 | TogoVar | |||||
ALAD_chr9_113381312_113406284 | 113381760 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp2 others(52): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0061a0001c0001t0001g0215a0001c0001t0002g0010others(34): Show | 55 | 446 | 0.1233 | -6 | c.*65 others(17): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55012794 | AAAAAAC | A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 284 | 0.0035 | -6 | c.160 others(23): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 10/10 | chrX | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55015957 | CTCTGTG | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0038 | 4 | 284 | 0.0141 | -6 | c.100 others(23): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55015959 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0018others(12): Show | 23 | 284 | 0.0810 | -6 | c.100 others(23): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105368223 | AAGAGAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0026a0001c0002t0027a0001c0003t0006others(4): Show | a0001c0001t0026g0323a0001c0002t0027g0325a0001c0003t0006g0321others(6): Show | 9 | 378 | 0.0238 | -6 | c.73+ others(19): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105446610 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(12): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0088others(123): Show | 126 | 378 | 0.3333 | -6 | c.74- others(23): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |