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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP17A_chrX_1586604_1607520 | 1587621 | CCTTCCCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 151 | 0.0066 | -8 | c.-41 others(19): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3982 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587706 | CCCTCCCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 151 | 0.0066 | -8 | c.-40 others(19): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3897 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587734 | TCCTCTCC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03195.hp1 HG03704.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0014a0001c0005t0001a0001c0005t0006others(3): Show | a0001c0001t0014g0115a0001c0005t0001g0060a0001c0005t0006g0062others(3): Show | 6 | 151 | 0.0397 | -8 | c.-40 others(19): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3869 | chrX | TogoVar | ||||||
AKAP1_chr17_57080246_57126344 | 57083071 | GGAGAGAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 NA18981.hp2 NA19005.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0108a0001c0001t0001g0132a0001c0001t0001g0136others(2): Show | 5 | 396 | 0.0126 | -8 | c.-23 others(19): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 2174 | chr17 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624315 | ACGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
a0001a0002a0004others(4): Show | a0001c0002a0002c0009a0004c0005others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(7): Show | a0001c0002t0001g0008a0001c0002t0001g0123a0001c0002t0001g0124others(62): Show | 86 | 418 | 0.2057 | -8 | c.240 others(27): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624316 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00642.hp2 others(37): Show |
a0003a0007a0008 | a0003c0004a0007c0011a0008c0010 | a0003c0004t0001a0007c0011t0001a0008c0010t0001 | a0003c0004t0001g0009a0003c0004t0001g0019a0003c0004t0001g0020others(31): Show | 40 | 418 | 0.0957 | -8 | c.240 others(27): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32360126 | CTTTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01978.hp2 HG02109.hp1 others(11): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0004a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0013others(8): Show | a0001c0001t0001g0139a0001c0001t0006g0045a0001c0004t0013g0116others(11): Show | 14 | 154 | 0.0909 | -8 | c.-35 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32360712 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02886.hp1 others(4): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0038a0001c0019t0001others(3): Show | a0001c0001t0001g0139a0001c0001t0038g0038a0001c0019t0001g0002others(4): Show | 7 | 154 | 0.0455 | -8 | c.-35 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32372770 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02602.hp1 HG06807.hp2 |
a0001a0004a0022 | a0001c0001a0004c0013a0022c0036 | a0001c0001t0001a0004c0013t0008a0022c0036t0044 | a0001c0001t0001g0139a0004c0013t0008g0138a0022c0036t0044g0140 | 3 | 154 | 0.0195 | -8 | c.-35 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32383087 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01071.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0010a0002c0002a0002c0009others(12): Show | a0001c0010t0001a0001c0010t0005a0002c0002t0001others(20): Show | a0001c0010t0001g0084a0001c0010t0005g0006a0001c0010t0005g0032others(24): Show | 27 | 154 | 0.1753 | -8 | c.-34 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32398780 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(80): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0010others(33): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(57): Show | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0125others(80): Show | 83 | 154 | 0.5390 | -8 | c.-34 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32482987 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02895.hp2 homoSapiens_chm13v2.hp1 |
a0002a0009 | a0002c0009a0009c0012 | a0002c0009t0001a0009c0012t0039 | a0002c0009t0001g0008a0009c0012t0039g0136 | 2 | 154 | 0.0130 | -8 | c.324 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32540131 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02970.hp2 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0006a0003c0032a0004c0034others(2): Show | a0001c0006t0001a0001c0006t0007a0003c0032t0052others(4): Show | a0001c0006t0001g0057a0001c0006t0007g0099a0003c0032t0052g0093others(5): Show | 8 | 154 | 0.0520 | -8 | c.576 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32548529 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02074.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0038others(21): Show | a0001c0001t0001g0134a0001c0001t0006g0045a0001c0001t0038g0038others(24): Show | 27 | 154 | 0.1753 | -8 | c.234 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32593011 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(7): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0010a0001c0019others(5): Show | a0001c0001t0008a0001c0001t0046a0001c0001t0047others(7): Show | a0001c0001t0008g0129a0001c0001t0046g0004a0001c0001t0047g0034others(7): Show | 10 | 154 | 0.0649 | -8 | c.247 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32687400 | ATCTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01071.hp1 others(36): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0030others(29): Show | a0001c0001t0001g0059a0001c0001t0001g0063a0001c0001t0001g0125others(36): Show | 39 | 154 | 0.2533 | -8 | c.288 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32690076 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02647.hp1 |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0012 | a0001c0001t0030a0006c0008t0016a0009c0012t0040 | a0001c0001t0030g0016a0006c0008t0016g0043a0009c0012t0040g0104 | 3 | 154 | 0.0195 | -8 | c.288 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32728348 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01261.hp1 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0010t0001others(13): Show | a0001c0001t0001g0063a0001c0001t0008g0129a0001c0010t0001g0080others(13): Show | 16 | 154 | 0.1039 | -8 | c.300 others(27): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32745461 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0041 | a0002c0002t0003g0074a0002c0002t0041g0019 | 2 | 154 | 0.0130 | -8 | 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 | 32774744 | GCATACAT others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0004a0025 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0020a0001c0004t0013a0001c0006t0007others(3): Show | a0001c0001t0020g0076a0001c0001t0020g0130a0001c0004t0013g0116others(4): Show | 7 | 154 | 0.0455 | -8 | 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 | 32786296 | ATCTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02074.hp2 HG02132.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0046a0001c0001t0049others(16): Show | a0001c0001t0001g0139a0001c0001t0046g0004a0001c0001t0049g0015others(18): Show | 21 | 154 | 0.1364 | -8 | c.358 others(29): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828527 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01175.hp1 others(20): Show |
a0003a0008a0011others(1): Show | a0003c0003a0003c0005a0003c0017others(5): Show | a0003c0003t0002a0003c0003t0025a0003c0005t0001others(10): Show | a0003c0003t0002g0025a0003c0003t0002g0035a0003c0003t0002g0037others(20): Show | 23 | 154 | 0.1494 | -8 | c.*43 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32828529 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01981.hp1 HG02132.hp1 others(1): Show |
a0001a0002a0004 | a0001c0010a0002c0002a0004c0007others(1): Show | a0001c0010t0005a0002c0002t0024a0004c0007t0022others(1): Show | a0001c0010t0005g0006a0002c0002t0024g0077a0004c0007t0022g0022others(1): Show | 4 | 154 | 0.0260 | -8 | c.*43 others(25): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32837958 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01109.hp2 others(38): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0004a0001c0006others(21): Show | a0001c0001t0046a0001c0001t0047a0001c0004t0005others(27): Show | a0001c0001t0046g0004a0001c0001t0047g0034a0001c0004t0005g0121others(38): Show | 41 | 154 | 0.2662 | -8 | c.*81 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 275 | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131247269 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp1 HG01496.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0025a0001c0001t0001g0170a0001c0001t0002g0238others(14): Show | 17 | 304 | 0.0559 | -8 | c.850 others(27): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP7_chr6_131130467_131288532 | 131253659 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(92): Show | 95 | 304 | 0.3125 | -8 | c.851 others(27): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP8L_chr19_15375050_15423988 | 15406362 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0199a0001c0001t0001g0213others(1): Show | 4 | 254 | 0.0158 | -8 | c.89- others(23): Show |
AKAP8L | ENSG00000011243.19 | transcript | ENST00000397410.10 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
AKAP8_chr19_15348385_15384787 | 15364057 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG02486.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0089a0001c0001t0001g0139a0001c0001t0003g0223others(1): Show | 4 | 286 | 0.0140 | -8 | c.116 others(27): Show |
AKAP8 | ENSG00000105127.10 | transcript | ENST00000269701.7 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91963482 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0011a0003c0003others(3): Show | a0001c0001t0001a0001c0011t0001a0003c0003t0002others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0049others(9): Show | 12 | 306 | 0.0392 | -8 | c.49- others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 91998418 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01168.hp2 others(12): Show |
a0002a0003a0008others(1): Show | a0002c0002a0002c0033a0003c0003others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0033t0002others(3): Show | a0002c0002t0002g0214a0002c0002t0002g0231a0002c0002t0002g0234others(12): Show | 15 | 306 | 0.0490 | -8 | c.931 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 7/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92018395 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01884.hp1 others(10): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0006others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0073a0004c0004t0001g0196a0004c0004t0001g0197others(10): Show | 13 | 306 | 0.0425 | -8 | c.383 others(27): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 12/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92018435 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00735.hp1 others(57): Show |
a0002a0003a0009others(4): Show | a0002c0002a0002c0033a0003c0003others(5): Show | a0002c0002t0002a0002c0033t0002a0003c0003t0002others(5): Show | a0002c0002t0002g0213a0002c0002t0002g0214a0002c0002t0002g0215others(57): Show | 60 | 306 | 0.1961 | -8 | c.383 others(27): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 12/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKAP9_chr7_91935862_92115673 | 92061584 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00735.hp1 others(68): Show |
a0002a0003a0007others(4): Show | a0002c0002a0003c0003a0007c0007others(4): Show | a0002c0002t0002a0003c0003t0002a0007c0007t0002others(4): Show | a0002c0002t0002g0219a0002c0002t0002g0220a0002c0002t0002g0221others(68): Show | 71 | 306 | 0.2320 | -8 | c.576 others(25): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 23/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKIRIN1_chr1_38986276_39011059 | 38987489 | CTTATTTA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0035others(55): Show | 80 | 426 | 0.1878 | -8 | c.-38 others(19): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 3786 | chr1 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0163a0001c0001t0003g0001others(19): Show | 59 | 426 | 0.1385 | -8 | c.220 others(25): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKIRIN2_chr6_87669860_87707233 | 87676596 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219a0001c0001t0002g0097a0001c0001t0002g0104others(4): Show | 7 | 406 | 0.0172 | -8 | c.530 others(23): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
AKNAD1_chr1_108810901_108862094 | 108828087 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0004t0002others(3): Show | a0001c0001t0001g0150a0002c0002t0001g0020a0005c0004t0002g0180others(5): Show | 10 | 398 | 0.0251 | -8 | c.183 others(25): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
AKNA_chr9_114329156_114392982 | 114342859 | GATGAATG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03041.hp1 others(4): Show |
a0003 | a0003c0012a0003c0029 | a0003c0012t0009a0003c0029t0033 | a0003c0012t0009g0016a0003c0012t0009g0190a0003c0012t0009g0191others(3): Show | 7 | 388 | 0.0180 | -8 | c.375 others(25): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 19/21 | chr9 | TogoVar | ||||||
AKR1B10_chr7_134522567_134546412 | 134528727 | AAGAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01099.hp1 others(79): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0066a0001c0002t0001g0015a0001c0002t0001g0016others(41): Show | 82 | 448 | 0.1830 | -8 | c.66+ others(21): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B15_chr7_134544110_134584869 | 134562832 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00733.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0098others(29): Show | 53 | 404 | 0.1312 | -8 | c.-22 others(25): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1B1_chr7_134437356_134464100 | 134461142 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0120a0001c0001t0001g0142others(1): Show | 4 | 446 | 0.0090 | -8 | c.-20 others(19): Show |
AKR1B1 | ENSG00000085662.14 | transcript | ENST00000285930.9 | protein_coding | 2043 | chr7 | TogoVar | ||||||
AKR1C1_chr10_4958415_4988283 | 4960660 | TTGCTCTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(26): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0013a0001c0001t0016others(8): Show | a0001c0001t0004g0010a0001c0001t0004g0018a0001c0001t0004g0096others(14): Show | 29 | 426 | 0.0681 | -8 | c.-27 others(19): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 2754 | chr10 | TogoVar | ||||||
AKR1C2_chr10_4982775_5008857 | 5003303 | TAGTATTA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023 | a0001c0001t0022g0035a0001c0001t0023g0034 | 4 | 412 | 0.0097 | -8 | c.84+ others(21): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5107753 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp1 NA18947.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 438 | 0.0091 | -8 | c.*25 others(17): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 68 | chr10 | TogoVar | ||||||
AKR1C4_chr10_5191837_5223949 | 5202939 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 69 | 434 | 0.1590 | -8 | c.253 others(25): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5209843 | ACACATAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01168.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0065others(12): Show | 25 | 434 | 0.0576 | -8 | c.571 others(25): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1C4_chr10_5191837_5223949 | 5221401 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(26): Show | 75 | 434 | 0.1728 | -8 | c.*26 others(19): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2453 | chr10 | TogoVar | ||||||
AKR1C8_chr10_5148920_5190150 | 5186652 | CCTCTTAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0057a0002c0003t0001g0246a0002c0003t0001g0247others(4): Show | 8 | 408 | 0.0196 | -8 | c.-15 others(19): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 1503 | chr10 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138088897 | GGTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0021others(4): Show | a0001c0001t0013g0108a0001c0001t0017g0342a0001c0001t0017g0343others(9): Show | 12 | 426 | 0.0282 | -8 | c.261 others(23): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AKR1D1_chr7_138071459_138123305 | 138100088 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(167): Show | 200 | 426 | 0.4695 | -8 | c.456 others(25): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |