view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP12_chr6_151234967_151363559 | 151319480 | TCTATCTA | T | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG03130.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0053a0002c0035a0004c0009others(3): Show | a0001c0053t0018a0002c0035t0012a0004c0009t0006others(3): Show | a0001c0053t0018g0196 a0002c0035t0012g0173 a0004c0009t0006g0071 others(3): Show |
6 | 314 | 0.0191 | -7 | c.319 others(26): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85410183 | TTATTAGA | T | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02965.hp2 others(2): Show |
a0008 | a0008c0010 | a0008c0010t0001a0008c0010t0056a0008c0010t0066 | a0008c0010t0001g0249 a0008c0010t0001g0250 a0008c0010t0001g0252 others(2): Show |
5 | 312 | 0.0160 | -7 | c.-12 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 1/36 | chr15 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85504503 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0007others(9): Show | a0001c0002t0053a0001c0002t0061a0001c0004t0001others(18): Show | a0001c0002t0053g0040 a0001c0002t0061g0141 a0001c0004t0001g0023 others(30): Show |
33 | 43 | 0.7674 | -7 | c.34- others(24): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85553084 | CTTTTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(4): Show |
a0001a0023 | a0001c0002a0023c0048 | a0001c0002t0013a0001c0002t0019a0001c0002t0033others(1): Show | a0001c0002t0013g0267 a0001c0002t0013g0273 a0001c0002t0019g0071 others(4): Show |
7 | 203 | 0.0345 | -7 | c.662 others(24): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85629764 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(27): Show |
a0003a0006a0019others(2): Show | a0003c0003a0003c0016a0006c0008others(3): Show | a0003c0003t0003a0003c0003t0024a0003c0003t0030others(10): Show | a0003c0003t0003g0028 a0003c0003t0003g0116 a0003c0003t0003g0117 others(27): Show |
30 | 56 | 0.5357 | -7 | c.416 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85630206 | CACATCAT | C | intron_variant | MODIFIER | HG00639.hp1 HG03688.hp2 NA18983.hp1 others(1): Show |
a0005a0007a0040 | a0005c0005a0007c0009a0040c0044 | a0005c0005t0004a0005c0005t0071a0007c0009t0009others(1): Show | a0005c0005t0004g0288 a0005c0005t0071g0263 a0007c0009t0009g0059 others(1): Show |
4 | 312 | 0.0128 | -7 | c.416 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | chr15 | TogoVar | |||||||
AKAP13_chr15_85375603_85754355 | 85650755 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(70): Show |
a0001a0002a0003others(17): Show | a0001c0002a0002c0001a0002c0017others(22): Show | a0001c0002t0013a0002c0001t0002a0002c0001t0007others(33): Show | a0001c0002t0013g0267 a0002c0001t0002g0029 a0002c0001t0002g0168 others(70): Show |
73 | 95 | 0.7684 | -7 | c.437 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85660352 | CAAAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp1 HG01975.hp1 others(11): Show |
a0002a0006a0013others(2): Show | a0002c0039a0006c0008a0006c0033others(3): Show | a0002c0039t0002a0006c0008t0005a0006c0033t0005others(3): Show | a0002c0039t0002g0134 a0006c0008t0005g0036 a0006c0008t0005g0070 others(11): Show |
14 | 67 | 0.2090 | -7 | c.479 others(26): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587741 | CCCTCCCT | C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0014a0002c0002t0015 | a0002c0002t0005g0004 a0002c0002t0005g0065 a0002c0002t0014g0064 others(1): Show |
6 | 149 | 0.0403 | -7 | c.-40 others(18): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3862 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1595245 | CATGAGTG | C | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp2 |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0003a0006c0011t0003 | a0002c0002t0003g0058 a0006c0011t0003g0105 |
2 | 149 | 0.0134 | -7 | c.763 others(22): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1595251 | TGGTGAGC | T | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0002 | a0001c0004t0016a0001c0010t0003a0002c0002t0002others(3): Show | a0001c0004t0016g0017 a0001c0010t0003g0104 a0002c0002t0002g0019 others(4): Show |
9 | 149 | 0.0604 | -7 | c.763 others(22): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AKAP5_chr14_64460499_64479503 | 64461573 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0023 | a0001c0001t0001g0001 a0001c0001t0007g0002 a0001c0001t0023g0002 |
9 | 124 | 0.0726 | -7 | c.-43 others(18): Show |
AKAP5 | ENSG00000179841.8 | transcript | ENST00000394718.4 | protein_coding | 3925 | chr14 | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32408509 | ATACAATT | A | intron_variant | MODIFIER | HG00140.hp1 HG02074.hp2 HG02895.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0005others(4): Show | a0001c0001t0045a0001c0001t0046a0002c0003t0002others(6): Show | a0001c0001t0045g0004 a0001c0001t0046g0034 a0002c0003t0002g0096 others(6): Show |
9 | 152 | 0.0592 | -7 | c.-34 others(26): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32509120 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01109.hp1 others(46): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0045others(38): Show | a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0063 others(46): Show |
49 | 67 | 0.7313 | -7 | c.325 others(26): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32530880 | TAAAAAAC | T | intron_variant | MODIFIER | HG02895.hp2 HG03225.hp1 HG03486.hp1 |
a0004a0010 | a0004c0018a0010c0012 | a0004c0018t0004a0010c0012t0039 | a0004c0018t0004g0041 a0004c0018t0004g0065 a0010c0012t0039g0136 |
3 | 152 | 0.0197 | -7 | c.325 others(24): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP6_chr14_32324298_32842684 | 32736793 | AAATTTAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01109.hp1 others(29): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0047a0001c0006t0032others(22): Show | a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0125 others(29): Show |
32 | 152 | 0.2105 | -7 | c.337 others(24): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 11/13 | chr14 | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32799455 | CCTCTAAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0004a0001c0006others(47): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(90): Show | a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0059 others(124): Show |
127 | 152 | 0.8355 | -7 | c.358 others(28): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131159087 | ATTTTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 others(145): Show |
148 | 302 | 0.4901 | -7 | c.152 others(22): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131211772 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(41): Show |
44 | 162 | 0.2716 | -7 | c.703 others(24): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 91998418 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(61): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(7): Show | a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0220 others(61): Show |
64 | 65 | 0.9846 | -7 | c.931 others(24): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 7/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92056071 | ATTAATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(97): Show |
a0002a0003a0006others(2): Show | a0002c0002a0002c0003a0002c0009others(10): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(11): Show | a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 others(97): Show |
100 | 304 | 0.3289 | -7 | c.560 others(26): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 22/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | ATTTTTTT | A | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0164 a0001c0001t0001g0216 a0001c0001t0003g0008 others(11): Show |
26 | 42 | 0.6190 | -7 | c.220 others(24): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 39006517 | TTATAATC | T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02896.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0035 | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0051 others(2): Show |
6 | 424 | 0.0142 | -7 | c.*24 others(18): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 459 | chr1 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108826735 | TCTTTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02717.hp1 others(4): Show |
a0001a0003a0015 | a0001c0002a0001c0018a0001c0022others(3): Show | a0001c0002t0003a0001c0018t0006a0001c0022t0006others(3): Show | a0001c0002t0003g0092 a0001c0018t0006g0084 a0001c0022t0006g0057 others(4): Show |
7 | 396 | 0.0177 | -7 | c.193 others(24): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/15 | chr1 | TogoVar | |||||||
AKR1B15_chr7_134544110_134584869 | 134562636 | ACAATCCT | A | intron_variant | MODIFIER | HG02818.hp1 NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 402 | 0.0075 | -7 | c.-22 others(24): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1B15_chr7_134544110_134584869 | 134572631 | GAAAAAAA | G | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0225 others(4): Show |
11 | 330 | 0.0333 | -7 | c.513 others(22): Show |
AKR1B15 | ENSG00000227471.9 | transcript | ENST00000457545.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1C3_chr10_5089414_5112686 | 5108324 | CATCAAAG | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0003others(5): Show | a0001c0001t0002a0001c0014t0002a0002c0003t0002others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0016 others(52): Show |
170 | 436 | 0.3899 | -7 | c.*82 others(16): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 639 | chr10 | TogoVar | |||||||
AKR1C4_chr10_5191837_5223949 | 5221401 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0096 others(2): Show |
7 | 66 | 0.1061 | -7 | c.*26 others(18): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2453 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138081506 | CTTTTTTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0009g0045 a0001c0001t0010g0210 a0001c0001t0011g0212 others(3): Show |
6 | 39 | 0.1538 | -7 | c.93+ others(22): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138100088 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02257.hp1 others(21): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0273 others(20): Show |
24 | 40 | 0.6000 | -7 | c.456 others(24): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1D1_chr7_138071459_138123305 | 138118541 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02258.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0001g0274 a0001c0001t0006g0031 a0001c0001t0006g0035 others(14): Show |
20 | 349 | 0.0573 | -7 | c.*18 others(18): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 237 | chr7 | TogoVar | |||||||
AKR1E2_chr10_4821207_4853062 | 4827075 | GAAAAAAA | G | intron_variant | MODIFIER | NA18941.hp1 NA18946.hp1 NA18953.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 a0002c0002t0003g0025 a0002c0002t0003g0053 |
10 | 147 | 0.0680 | -7 | c.39+ others(20): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243508655 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0001g0133 others(4): Show |
7 | 57 | 0.1228 | -7 | c.135 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00621.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 others(56): Show |
59 | 70 | 0.8429 | -7 | c.125 others(28): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243608743 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0065 a0001c0001t0001g0140 a0001c0001t0001g0141 others(89): Show |
92 | 136 | 0.6765 | -7 | c.696 others(24): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 8/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243838050 | CTTGATTG | C | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0005g0285 a0001c0001t0005g0288 a0001c0001t0005g0289 others(12): Show |
15 | 300 | 0.0500 | -7 | c.46+ others(22): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243854305 | TCTGTCTG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0007g0266 others(8): Show |
11 | 300 | 0.0367 | -7 | c.-43 others(18): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4063 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113383534 | TTTCTTTC | T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0024 a0001c0001t0001g0143 a0001c0001t0002g0233 others(10): Show |
14 | 444 | 0.0315 | -7 | c.*47 others(18): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2777 | chr9 | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105481141 | GTATCTTT | G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 a0001c0002t0003g0093 a0001c0002t0003g0313 others(1): Show |
4 | 376 | 0.0106 | -7 | c.74- others(24): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49466864 | AAAAAAAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(14): Show |
a0002a0003a0004others(1): Show | a0002c0006a0003c0004a0004c0008others(1): Show | a0002c0006t0001a0003c0004t0002a0004c0008t0008others(2): Show | a0002c0006t0001g0146 a0003c0004t0002g0031 a0003c0004t0002g0121 others(9): Show |
17 | 340 | 0.0500 | -7 | c.193 others(24): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95655131 | ATTATTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(46): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0010a0001c0007t0002 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(32): Show |
49 | 370 | 0.1324 | -7 | c.-29 others(24): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 57974432 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(81): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010a0002c0002t0011others(4): Show | a0002c0002t0002g0004 a0002c0002t0002g0057 a0002c0002t0002g0058 others(80): Show |
84 | 233 | 0.3605 | -7 | c.799 others(24): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 57975502 | GAAATCCA | G | intron_variant | MODIFIER | HG02273.hp1 NA18944.hp2 NA18961.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 a0002c0002t0003g0027 a0002c0002t0003g0028 others(6): Show |
10 | 324 | 0.0309 | -7 | c.799 others(24): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126098925 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(43): Show |
a0002a0003a0008others(2): Show | a0002c0002a0003c0003a0003c0023others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0023t0001others(5): Show | a0002c0002t0001g0030 a0003c0003t0001g0018 a0003c0003t0001g0050 others(42): Show |
46 | 157 | 0.2930 | -7 | c.*48 others(18): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 4644 | chr3 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(24): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0258 a0001c0001t0001g0262 others(23): Show |
27 | 36 | 0.7500 | -7 | c.787 others(24): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | CCAAAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03209.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0004a0001c0001t0006a0001c0002t0009others(2): Show | a0001c0001t0004g0256 a0001c0001t0006g0255 a0001c0002t0009g0257 others(2): Show |
5 | 88 | 0.0568 | -7 | c.49- others(20): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ALDH2_chr12_111761933_111822532 | 111818888 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0023others(4): Show | a0001c0001t0006g0125 a0001c0001t0014g0044 a0001c0001t0014g0045 others(12): Show |
16 | 82 | 0.1951 | -7 | c.*93 others(18): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1357 | chr12 | TogoVar | |||||||
ALDH3A2_chr17_19643751_19682596 | 19682365 | AAATTTAT | A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0023 a0001c0001t0004g0047 a0001c0001t0004g0048 others(4): Show |
9 | 359 | 0.0251 | -7 | c.*67 others(18): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4770 | chr17 | TogoVar | |||||||
ALDH3B1_chr11_68005327_68034276 | 68030112 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00642.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0002a0001c0003t0002a0001c0003t0005others(2): Show | a0001c0001t0002g0037 a0001c0003t0002g0002 a0001c0003t0002g0006 others(12): Show |
44 | 372 | 0.1183 | -7 | c.*21 others(18): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 837 | chr11 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18866622 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01070.hp1 others(40): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(27): Show |
43 | 62 | 0.6935 | -7 | c.*62 others(18): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 4807 | chr1 | TogoVar |