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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP9_chr7_91935862_92115673 | 92099818 | G | A | synonymous_variant | LOW | NA18747.hp1 NA19074.hp2 NA19087.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0091a0001c0008t0001g0188a0001c0008t0001g0189 | 3 | 306 | 0.0098 | 0 | c.108 others(5): Show |
p.Lys others(7): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 44/50 | 11083/12476 | 10845/11724 | 3615/3907 | chr7 | TogoVar | ||
AKAP9_chr7_91935862_92115673 | 92100885 | C | A | synonymous_variant | LOW | NA18974.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0010 | 1 | 306 | 0.0033 | 0 | c.109 others(5): Show |
p.Ala others(7): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 45/50 | 11164/12476 | 10926/11724 | 3642/3907 | chr7 | TogoVar | ||
AKIP1_chr11_8906189_8925079 | 8911515 | A | G | synonymous_variant | LOW | NA18955.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0112 | 1 | 420 | 0.0024 | 0 | c.66A others(2): Show |
p.Ala others(5): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 2/6 | 107/1273 | 66/633 | 22/210 | chr11 | TogoVar | ||
AKIP1_chr11_8906189_8925079 | 8911518 | G | A | synonymous_variant | LOW | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0155 | 1 | 420 | 0.0024 | 0 | c.69G others(2): Show |
p.Arg others(5): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 2/6 | 110/1273 | 69/633 | 23/210 | chr11 | TogoVar | ||
AKIRIN1_chr1_38986276_39011059 | 38991509 | C | T | synonymous_variant | LOW | HG01243.hp1 HG02451.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0019a0001c0002t0025 | a0001c0002t0008g0010a0001c0002t0008g0024a0001c0002t0019g0079others(1): Show | 11 | 426 | 0.0258 | 0 | c.129 others(3): Show |
p.Ala others(5): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/5 | 234/2688 | 129/579 | 43/192 | chr1 | TogoVar | ||
AKIRIN2_chr6_87669860_87707233 | 87675861 | G | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG02258.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007 | a0001c0002t0006g0047a0001c0002t0006g0048a0001c0002t0006g0049others(10): Show | 13 | 406 | 0.0320 | 0 | c.600 others(3): Show |
p.Ser others(6): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 4/5 | 1149/1898 | 600/612 | 200/203 | chr6 | TogoVar | ||
AKIRIN2_chr6_87669860_87707233 | 87681687 | C | T | synonymous_variant | LOW | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0063 | 1 | 406 | 0.0025 | 0 | c.312 others(3): Show |
p.Gln others(6): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 2/5 | 861/1898 | 312/612 | 104/203 | chr6 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108816279 | A | G | synonymous_variant | LOW | HG03195.hp2 HG03225.hp2 |
a0001a0002 | a0001c0046a0002c0055 | a0001c0046t0003a0002c0055t0006 | a0001c0046t0003g0055a0002c0055t0006g0056 | 2 | 398 | 0.0050 | 0 | c.240 others(4): Show |
p.His others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 16/16 | 2672/3050 | 2403/2511 | 801/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108820610 | T | C | synonymous_variant | LOW | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(184): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0007a0001c0050others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0016others(162): Show | 187 | 398 | 0.4699 | 0 | c.218 others(4): Show |
p.Lys others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 14/16 | 2453/3050 | 2184/2511 | 728/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108823467 | A | G | synonymous_variant | LOW | HG02965.hp1 | a0002 | a0002c0044 | a0002c0044t0002 | a0002c0044t0002g0200 | 1 | 398 | 0.0025 | 0 | c.207 others(4): Show |
p.Tyr others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 13/16 | 2339/3050 | 2070/2511 | 690/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108823654 | A | G | synonymous_variant | LOW | HG04199.hp2 | a0010 | a0010c0048 | a0010c0048t0001 | a0010c0048t0001g0158 | 1 | 398 | 0.0025 | 0 | c.197 others(4): Show |
p.Ser others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 12/16 | 2240/3050 | 1971/2511 | 657/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108835039 | G | A | synonymous_variant | LOW | HG02895.hp2 HG02897.hp1 |
a0009 | a0009c0036 | a0009c0036t0003 | a0009c0036t0003g0013 | 2 | 398 | 0.0050 | 0 | c.155 others(4): Show |
p.Pro others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 8/16 | 1823/3050 | 1554/2511 | 518/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108843169 | G | A | synonymous_variant | LOW | HG02647.hp2 | a0001 | a0001c0050 | a0001c0050t0001 | a0001c0050t0001g0189 | 1 | 398 | 0.0025 | 0 | c.134 others(4): Show |
p.His others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 6/16 | 1613/3050 | 1344/2511 | 448/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108851918 | G | A | synonymous_variant | LOW | HG02155.hp2 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0297 | 1 | 398 | 0.0025 | 0 | c.747 others(3): Show |
p.Tyr others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 2/16 | 1016/3050 | 747/2511 | 249/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108851942 | T | C | synonymous_variant | LOW | HG01109.hp1 HG01346.hp2 HG01515.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0031a0002c0024a0002c0030others(7): Show | a0001c0031t0001a0001c0031t0006a0002c0024t0006others(9): Show | a0001c0031t0001g0298a0001c0031t0006g0050a0002c0024t0006g0051others(14): Show | 18 | 398 | 0.0452 | 0 | c.723 others(3): Show |
p.Ala others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 2/16 | 992/3050 | 723/2511 | 241/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108852356 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(62): Show |
a0001a0002a0003others(8): Show | a0001c0007a0001c0011a0002c0015others(11): Show | a0001c0007t0001a0001c0011t0001a0001c0011t0002others(17): Show | a0001c0007t0001g0008a0001c0007t0001g0030a0001c0007t0001g0300others(51): Show | 65 | 398 | 0.1633 | 0 | c.309 others(3): Show |
p.Asp others(6): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 2/16 | 578/3050 | 309/2511 | 103/836 | chr1 | TogoVar | ||
AKNAD1_chr1_108810901_108862094 | 108852608 | A | G | synonymous_variant | LOW | HG02109.hp1 HG02145.hp2 NA18906.hp1 |
a0001a0002 | a0001c0040a0002c0029 | a0001c0040t0002a0002c0029t0003a0002c0029t0004 | a0001c0040t0002g0325a0002c0029t0003g0101a0002c0029t0004g0102 | 3 | 398 | 0.0075 | 0 | c.57T others(2): Show |
p.Tyr others(5): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 2/16 | 326/3050 | 57/2511 | 19/836 | chr1 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114337099 | G | A | synonymous_variant | LOW | HG03540.hp1 | a0001 | a0001c0033 | a0001c0033t0051 | a0001c0033t0051g0025 | 1 | 388 | 0.0026 | 0 | c.427 others(4): Show |
p.Ala others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 22/22 | 4511/7454 | 4275/4320 | 1425/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114337141 | G | A | synonymous_variant | LOW | HG02257.hp1 HG02647.hp2 |
a0002a0009 | a0002c0028a0009c0047 | a0002c0028t0029a0009c0047t0029 | a0002c0028t0029g0026a0009c0047t0029g0248 | 2 | 388 | 0.0052 | 0 | c.423 others(4): Show |
p.Ser others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 22/22 | 4469/7454 | 4233/4320 | 1411/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114337294 | A | G | synonymous_variant | LOW | HG01109.hp1 HG02109.hp2 HG03453.hp2 |
a0014 | a0014c0017 | a0014c0017t0025a0014c0017t0041 | a0014c0017t0025g0221a0014c0017t0025g0222a0014c0017t0041g0135 | 3 | 388 | 0.0077 | 0 | c.408 others(4): Show |
p.Pro others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 22/22 | 4316/7454 | 4080/4320 | 1360/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114342088 | G | A | synonymous_variant | LOW | HG01109.hp1 HG01109.hp2 HG02109.hp2 others(9): Show |
a0003a0014a0024 | a0003c0012a0003c0029a0003c0044others(2): Show | a0003c0012t0009a0003c0029t0033a0003c0044t0042others(3): Show | a0003c0012t0009g0016a0003c0012t0009g0190a0003c0012t0009g0191others(8): Show | 12 | 388 | 0.0309 | 0 | c.379 others(4): Show |
p.Pro others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 20/22 | 4031/7454 | 3795/4320 | 1265/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114346691 | C | T | synonymous_variant | LOW | 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 | 0 | c.349 others(4): Show |
p.Arg others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 17/22 | 3728/7454 | 3492/4320 | 1164/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114347900 | G | A | splice_region_variant others(1): Show |
LOW | HG02132.hp1 HG02257.hp2 HG02258.hp2 others(19): Show |
a0003a0016 | a0003c0006a0003c0011a0016c0016 | a0003c0006t0001a0003c0006t0010a0003c0006t0015others(7): Show | a0003c0006t0001g0018a0003c0006t0010g0094a0003c0006t0010g0237others(18): Show | 22 | 388 | 0.0567 | 0 | c.322 others(4): Show |
p.Asp others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 16/22 | 3458/7454 | 3222/4320 | 1074/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114350900 | T | C | synonymous_variant | LOW | NA20129.hp1 | a0012 | a0012c0032 | a0012c0032t0064 | a0012c0032t0064g0133 | 1 | 388 | 0.0026 | 0 | c.318 others(4): Show |
p.Thr others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 15/22 | 3416/7454 | 3180/4320 | 1060/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114350927 | G | A | synonymous_variant | LOW | HG01981.hp1 HG02055.hp2 HG02280.hp1 others(5): Show |
a0009a0024 | a0009c0013a0009c0047a0024c0026 | a0009c0013t0001a0009c0013t0013a0009c0047t0029others(1): Show | a0009c0013t0001g0319a0009c0013t0001g0320a0009c0013t0013g0211others(5): Show | 8 | 388 | 0.0206 | 0 | c.315 others(4): Show |
p.Ala others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 15/22 | 3389/7454 | 3153/4320 | 1051/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114350936 | G | A | synonymous_variant | LOW | HG02809.hp1 NA19054.hp1 |
a0002a0011 | a0002c0030a0011c0027 | a0002c0030t0001a0011c0027t0014 | a0002c0030t0001g0322a0011c0027t0014g0179 | 2 | 388 | 0.0052 | 0 | c.314 others(4): Show |
p.Pro others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 15/22 | 3380/7454 | 3144/4320 | 1048/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114355965 | T | C | synonymous_variant | LOW | HG02486.hp2 HG02809.hp1 HG02886.hp1 others(4): Show |
a0011 | a0011c0010a0011c0027 | a0011c0010t0014a0011c0010t0031a0011c0010t0032others(2): Show | a0011c0010t0014g0178a0011c0010t0014g0180a0011c0010t0014g0181others(4): Show | 7 | 388 | 0.0180 | 0 | c.301 others(4): Show |
p.Ala others(7): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 14/22 | 3254/7454 | 3018/4320 | 1006/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114356955 | C | T | synonymous_variant | LOW | HG01109.hp2 HG02559.hp2 HG03041.hp1 others(3): Show |
a0003 | a0003c0012 | a0003c0012t0009 | a0003c0012t0009g0016a0003c0012t0009g0190a0003c0012t0009g0191others(2): Show | 6 | 388 | 0.0155 | 0 | c.275 others(4): Show |
p.Ala others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 13/22 | 2990/7454 | 2754/4320 | 918/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114358032 | G | A | synonymous_variant | LOW | NA18988.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0062 | 1 | 388 | 0.0026 | 0 | c.262 others(4): Show |
p.Gly others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 12/22 | 2864/7454 | 2628/4320 | 876/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114358053 | G | A | synonymous_variant | LOW | HG02132.hp1 HG02257.hp2 HG02572.hp1 others(15): Show |
a0002a0003a0012others(1): Show | a0002c0031a0003c0006a0012c0032others(1): Show | a0002c0031t0001a0003c0006t0001a0003c0006t0010others(7): Show | a0002c0031t0001g0223a0003c0006t0001g0018a0003c0006t0010g0094others(14): Show | 18 | 388 | 0.0464 | 0 | c.260 others(4): Show |
p.Gly others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 12/22 | 2843/7454 | 2607/4320 | 869/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114359922 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0007a0010others(6): Show | a0001c0001a0001c0020a0001c0033others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(127): Show | 140 | 388 | 0.3608 | 0 | c.226 others(4): Show |
p.Glu others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 10/22 | 2501/7454 | 2265/4320 | 755/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114361776 | G | A | synonymous_variant | LOW | HG01109.hp2 HG02559.hp2 HG03041.hp1 others(3): Show |
a0003 | a0003c0012 | a0003c0012t0009 | a0003c0012t0009g0016a0003c0012t0009g0190a0003c0012t0009g0191others(2): Show | 6 | 388 | 0.0155 | 0 | c.205 others(4): Show |
p.Leu others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 9/22 | 2288/7454 | 2052/4320 | 684/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114361821 | G | A | synonymous_variant | LOW | HG01106.hp2 HG01168.hp1 |
a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0142a0001c0020t0003g0147 | 2 | 388 | 0.0052 | 0 | c.200 others(4): Show |
p.Pro others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 9/22 | 2243/7454 | 2007/4320 | 669/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114368476 | C | T | synonymous_variant | LOW | HG03017.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0282 | 1 | 388 | 0.0026 | 0 | c.153 others(4): Show |
p.Pro others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 5/22 | 1772/7454 | 1536/4320 | 512/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114368548 | C | G | synonymous_variant | LOW | NA18956.hp1 | a0007 | a0007c0042 | a0007c0042t0001 | a0007c0042t0001g0188 | 1 | 388 | 0.0026 | 0 | c.146 others(4): Show |
p.Thr others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 5/22 | 1700/7454 | 1464/4320 | 488/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114376964 | C | T | synonymous_variant | LOW | HG01192.hp2 HG01884.hp1 HG01891.hp1 others(2): Show |
a0005 | a0005c0014 | a0005c0014t0008a0005c0014t0020 | a0005c0014t0008g0274a0005c0014t0020g0020a0005c0014t0020g0272others(1): Show | 5 | 388 | 0.0129 | 0 | c.843 others(3): Show |
p.Arg others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 1079/7454 | 843/4320 | 281/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114376997 | G | C | synonymous_variant | LOW | HG01891.hp2 | a0023 | a0023c0041 | a0023c0041t0063 | a0023c0041t0063g0112 | 1 | 388 | 0.0026 | 0 | c.810 others(3): Show |
p.Ala others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 1046/7454 | 810/4320 | 270/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114377000 | T | C | synonymous_variant | LOW | HG01192.hp1 HG01981.hp1 HG02055.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0045a0002c0043a0003c0044others(3): Show | a0001c0045t0039a0002c0043t0001a0003c0044t0042others(4): Show | a0001c0045t0039g0186a0002c0043t0001g0187a0003c0044t0042g0189others(8): Show | 11 | 388 | 0.0284 | 0 | c.807 others(3): Show |
p.Pro others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 1043/7454 | 807/4320 | 269/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114377246 | G | A | synonymous_variant | LOW | NA19064.hp2 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0309 | 1 | 388 | 0.0026 | 0 | c.561 others(3): Show |
p.Ser others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 797/7454 | 561/4320 | 187/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114377366 | C | T | synonymous_variant | LOW | HG02040.hp1 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0292 | 1 | 388 | 0.0026 | 0 | c.441 others(3): Show |
p.Glu others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 677/7454 | 441/4320 | 147/1439 | chr9 | TogoVar | ||
AKNA_chr9_114329156_114392982 | 114377474 | G | A | synonymous_variant | LOW | HG01981.hp1 HG02055.hp2 HG02280.hp1 others(4): Show |
a0009 | a0009c0013a0009c0047 | a0009c0013t0001a0009c0013t0013a0009c0047t0029 | a0009c0013t0001g0319a0009c0013t0001g0320a0009c0013t0013g0211others(4): Show | 7 | 388 | 0.0180 | 0 | c.333 others(3): Show |
p.Leu others(6): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/22 | 569/7454 | 333/4320 | 111/1439 | chr9 | TogoVar | ||
AKR1A1_chr1_45545826_45575049 | 45566871 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0002 | 1 | 352 | 0.0028 | 0 | c.207 others(3): Show |
p.Ala others(5): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 4/9 | 543/1407 | 207/978 | 69/325 | chr1 | TogoVar | ||
AKR1A1_chr1_45545826_45575049 | 45568090 | G | A | synonymous_variant | LOW | NA19043.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0204 | 1 | 352 | 0.0028 | 0 | c.465 others(3): Show |
p.Leu others(6): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 5/9 | 801/1407 | 465/978 | 155/325 | chr1 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134530651 | T | C | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0008a0001c0011others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0001g0017others(96): Show | 217 | 448 | 0.4844 | 0 | c.75T others(2): Show |
p.Leu others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 2/10 | 420/1619 | 75/951 | 25/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134533069 | G | A | synonymous_variant | LOW | HG03195.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0015 | 1 | 448 | 0.0022 | 0 | c.417 others(3): Show |
p.Leu others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 4/10 | 762/1619 | 417/951 | 139/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134536670 | T | C | synonymous_variant | LOW | NA19087.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0006 | 1 | 448 | 0.0022 | 0 | c.450 others(3): Show |
p.Asp others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 5/10 | 795/1619 | 450/951 | 150/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134537074 | A | G | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0008a0001c0011others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(14): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0001g0017others(95): Show | 216 | 448 | 0.4821 | 0 | c.576 others(3): Show |
p.Thr others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 6/10 | 921/1619 | 576/951 | 192/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134537658 | C | T | synonymous_variant | LOW | HG02559.hp1 HG02622.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0034a0001c0008t0001g0064a0001c0008t0001g0065 | 4 | 448 | 0.0089 | 0 | c.738 others(3): Show |
p.Ala others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1083/1619 | 738/951 | 246/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134537661 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG02622.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0034a0001c0008t0001g0064a0001c0008t0001g0065 | 4 | 448 | 0.0089 | 0 | c.741 others(3): Show |
p.Gln others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1086/1619 | 741/951 | 247/316 | chr7 | TogoVar | ||
AKR1B10_chr7_134522567_134546412 | 134538229 | T | A | synonymous_variant | LOW | HG02074.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0001 | 1 | 448 | 0.0022 | 0 | c.777 others(3): Show |
p.Ile others(6): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 8/10 | 1122/1619 | 777/951 | 259/316 | chr7 | TogoVar |