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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACA | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 HG01891.hp2 others(18): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0054 a0001c0001t0002g0099 a0001c0001t0003g0033 others(18): Show |
21 | 92 | 0.2283 | 6 | c.316 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135352701 | G | GTATATA | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 HG03471.hp1 others(1): Show |
a0001a0006 | a0001c0003a0006c0007 | a0001c0003t0004a0001c0003t0013a0006c0007t0011 | a0001c0003t0004g0017 a0001c0003t0013g0046 a0006c0007t0011g0075 others(1): Show |
4 | 191 | 0.0209 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135352701 | G | GTGTATA | intron_variant | MODIFIER | HG02922.hp2 HG03710.hp2 HG04199.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0007 | a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0013t0007g0168 |
3 | 190 | 0.0158 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135352713 | A | ATATATG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0008 a0001c0003t0004g0009 |
2 | 218 | 0.0092 | 6 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135361645 | T | TCACACA | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0017 | a0001c0001t0003g0035 a0001c0001t0006g0002 a0001c0001t0017g0036 |
3 | 29 | 0.1034 | 6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135364921 | A | AAGAGGG | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0081 others(11): Show |
14 | 214 | 0.0654 | 6 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 324013 | T | TTCTTTC | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01109.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0017others(10): Show | a0001c0001t0007g0030 a0001c0001t0009g0031 a0001c0001t0017g0035 others(16): Show |
21 | 149 | 0.1409 | 6 | c.-11 others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344976 | G | GTGGGGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0247 a0006c0006t0021g0245 a0006c0006t0021g0246 others(1): Show |
4 | 266 | 0.0150 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344998 | T | TGCGCGG | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0247 a0006c0006t0021g0245 a0006c0006t0021g0246 others(1): Show |
4 | 266 | 0.0150 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345025 | A | AGGCTGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0247 a0006c0006t0021g0245 a0006c0006t0021g0246 others(1): Show |
4 | 264 | 0.0152 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345065 | T | TGCGCGG | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02145.hp2 others(2): Show |
a0003a0004a0006others(1): Show | a0003c0004a0004c0003a0006c0006others(1): Show | a0003c0004t0004a0004c0003t0022a0006c0006t0021others(1): Show | a0003c0004t0004g0014 a0004c0003t0022g0247 a0006c0006t0021g0245 others(2): Show |
5 | 266 | 0.0188 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345080 | G | GGGGAGA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01099.hp2 others(22): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 others(22): Show |
25 | 261 | 0.0958 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 345121 | T | TGCGCGG | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0247 a0006c0006t0021g0245 a0006c0006t0021g0246 others(1): Show |
4 | 265 | 0.0151 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345182 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG01358.hp1 NA18951.hp2 others(2): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0021 | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0002g0074 a0002c0002t0001g0075 a0002c0002t0006g0218 others(2): Show |
5 | 89 | 0.0562 | 6 | c.62+ others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0012a0002c0002t0001others(3): Show | a0001c0001t0001g0152 a0001c0001t0001g0256 a0001c0001t0001g0263 others(5): Show |
8 | 20 | 0.4000 | 6 | c.*66 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17294002 | G | GTATATA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0035 a0002c0002t0004g0108 a0002c0002t0004g0124 others(1): Show |
4 | 361 | 0.0111 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4649 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTATATA | upstream_gene_variant | MODIFIER | HG03209.hp1 NA18970.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0016 | a0002c0002t0002g0002 a0002c0002t0006g0005 a0002c0002t0016g0074 |
3 | 211 | 0.0142 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTGTATA | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02970.hp2 HG03654.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0036a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0036g0106 a0002c0002t0001g0109 a0002c0002t0002g0002 others(3): Show |
9 | 217 | 0.0415 | 6 | c.-52 others(17): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8610993 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0002g0104 a0001c0001t0002g0216 a0001c0001t0009g0198 others(3): Show |
6 | 63 | 0.0952 | 6 | c.8+1 others(19): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689481 | G | GTGTATA | intron_variant | MODIFIER | HG00140.hp2 HG02040.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0002 a0001c0001t0002g0042 a0001c0001t0002g0102 others(2): Show |
5 | 269 | 0.0186 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATACAC | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0002g0095 others(1): Show |
4 | 104 | 0.0385 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATAC | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG02602.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152 a0001c0001t0002g0003 a0001c0001t0002g0005 others(9): Show |
12 | 112 | 0.1071 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222700971 | T | TTGGGGG | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0080 others(2): Show |
5 | 156 | 0.0321 | 6 | c.180 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222716085 | T | TTTTTTA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0041 a0001c0001t0003g0251 others(9): Show |
16 | 366 | 0.0437 | 6 | c.-37 others(17): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 3595 | chr1 | TogoVar | |||||||
AIF1_chr6_31610234_31622015 | 31620909 | T | TGGTGGC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(174): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
177 | 410 | 0.4317 | 6 | c.*40 others(17): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 3895 | chr6 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130127036 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 NA20300.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0001 | a0001c0003t0001g0027 a0001c0003t0001g0029 a0002c0005t0001g0234 |
3 | 247 | 0.0121 | 6 | c.*25 others(17): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2325 | chrX | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130127691 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0059 a0001c0002t0001g0065 others(4): Show |
7 | 130 | 0.0538 | 6 | c.*18 others(17): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1670 | chrX | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTGTG | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0158 a0001c0001t0001g0226 a0001c0002t0001g0002 others(2): Show |
5 | 62 | 0.0806 | 6 | c.606 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70132764 | G | GGCTCCC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0048a0001c0001t0049others(13): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(64): Show |
78 | 409 | 0.1907 | 6 | c.-50 others(13): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/9 | 8681 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(18): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0037 others(38): Show |
46 | 70 | 0.6571 | 6 | c.-38 others(17): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20985059 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01261.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0001c0001t0003a0002c0003t0003others(1): Show | a0001c0001t0001g0140 a0001c0001t0001g0162 a0001c0001t0003g0004 others(12): Show |
19 | 163 | 0.1166 | 6 | c.*40 others(17): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3702 | chr22 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143060781 | G | GCCCCGC | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 others(2): Show |
5 | 183 | 0.0273 | 6 | c.-14 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 107 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143060815 | C | CCCCGCG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02818.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0091 a0001c0001t0005g0066 a0001c0001t0010g0194 others(1): Show |
4 | 202 | 0.0198 | 6 | c.-11 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 73 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACAC | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0003g0188 a0001c0001t0006g0106 a0001c0002t0002g0063 others(1): Show |
4 | 33 | 0.1212 | 6 | c.399 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143331846 | T | TTTATTA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 others(35): Show |
38 | 86 | 0.4419 | 6 | c.516 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01257.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0156 others(11): Show |
14 | 45 | 0.3111 | 6 | c.*60 others(17): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | |||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0131 others(1): Show |
4 | 112 | 0.0357 | 6 | c.-21 others(23): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIM2_chr1_159057484_159081766 | 159075574 | C | CACATAT | intron_variant | MODIFIER | HG02735.hp1 HG04115.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0154 |
3 | 322 | 0.0093 | 6 | c.-21 others(23): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106332667 | C | CTATAGA | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0008 others(49): Show |
89 | 382 | 0.2330 | 6 | c.603 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02602.hp1 HG02630.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0047 a0001c0001t0001g0148 a0001c0001t0001g0244 others(5): Show |
8 | 87 | 0.0920 | 6 | c.*65 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6007087 | C | CATTATT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0031 others(47): Show |
58 | 118 | 0.4915 | 6 | c.-22 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2184 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6007106 | A | ATTATTG | upstream_gene_variant | MODIFIER | NA19067.hp2 NA19075.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0003g0146 |
3 | 440 | 0.0068 | 6 | c.-22 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2165 | chr7 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AGAAAAG | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02486.hp1 HG02630.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0026others(5): Show | a0001c0001t0002g0199 a0001c0001t0010g0271 a0001c0001t0026g0256 others(5): Show |
8 | 278 | 0.0288 | 6 | c.*36 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01192.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(7): Show | a0001c0002t0001g0139 a0002c0003t0001g0004 a0002c0003t0001g0037 others(16): Show |
28 | 234 | 0.1197 | 6 | c.277 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0008g0228 a0001c0002t0001g0040 a0001c0002t0001g0144 others(10): Show |
19 | 215 | 0.0884 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCACA | intron_variant | MODIFIER | HG03225.hp1 HG04228.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0026a0001c0001t0053a0001c0002t0065others(1): Show | a0001c0001t0026g0256 a0001c0001t0053g0258 a0001c0002t0065g0248 others(1): Show |
4 | 278 | 0.0144 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00642.hp2 others(77): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0058 others(53): Show |
80 | 354 | 0.2260 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436883 | A | AGAGGAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(165): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(35): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 others(107): Show |
168 | 375 | 0.4480 | 6 | c.-17 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1763 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436936 | G | GGAAGAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(193): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 others(130): Show |
196 | 450 | 0.4356 | 6 | c.-18 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1816 | chr17 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44299059 | C | CGCCCCA | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02922.hp2 NA19043.hp1 |
a0001a0003 | a0001c0016a0003c0020 | a0001c0016t0004a0003c0020t0001 | a0001c0016t0004g0031 a0003c0020t0001g0209 |
3 | 284 | 0.0106 | 6 | c.*13 others(17): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 412 | chr21 | TogoVar |