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 | 135340669 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 212 | 0.0047 | 10 | c.316 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0175 | 1 | 72 | 0.0139 | 10 | c.316 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0198 a0001c0003t0004g0017 |
2 | 37 | 0.0541 | 10 | c.310 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(44): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 others(44): Show |
47 | 108 | 0.4352 | 10 | c.310 others(31): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135436839 | T | TGATCTGC others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0217 | 1 | 218 | 0.0046 | 10 | c.203 others(29): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 15/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG00741.hp2 others(16): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 others(16): Show |
19 | 39 | 0.4872 | 10 | c.136 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0042 a0001c0001t0003g0018 a0001c0001t0003g0032 others(14): Show |
17 | 57 | 0.2982 | 10 | c.135 others(27): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 324013 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0025 a0001c0001t0001g0152 a0001c0001t0001g0156 others(83): Show |
86 | 214 | 0.4019 | 10 | c.-11 others(27): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344801 | G | GCGCGGGG others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19043.hp2 |
a0004a0007 | a0004c0003a0007c0007 | a0004c0003t0022a0007c0007t0035 | a0004c0003t0022g0247 a0007c0007t0035g0228 |
2 | 266 | 0.0075 | 10 | c.62+ others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344832 | T | TGTGTGCG others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0006 | a0006c0006 | a0006c0006t0021 | a0006c0006t0021g0245 a0006c0006t0021g0246 |
2 | 266 | 0.0075 | 10 | c.62+ others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344896 | G | GCGCGGGG others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0006 | a0006c0006 | a0006c0006t0021 | a0006c0006t0021g0245 a0006c0006t0021g0246 |
2 | 266 | 0.0075 | 10 | c.62+ others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344927 | T | TGTGTGCG others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19043.hp2 |
a0004a0007 | a0004c0003a0007c0007 | a0004c0003t0022a0007c0007t0035 | a0004c0003t0022g0247 a0007c0007t0035g0228 |
2 | 266 | 0.0075 | 10 | c.62+ others(23): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345126 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 133 | 0.0075 | 10 | c.62+ others(25): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345382 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(4): Show |
7 | 239 | 0.0293 | 10 | c.62+ others(25): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01192.hp2 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0019others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(6): Show | a0001c0001t0001g0018 a0002c0002t0001g0091 a0002c0002t0001g0167 others(10): Show |
13 | 25 | 0.5200 | 10 | c.*66 others(21): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0073 | 1 | 209 | 0.0048 | 10 | c.-52 others(21): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17294004 | G | GTGTATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01099.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(3): Show | a0001c0001t0001g0104 a0001c0001t0004g0007 a0001c0001t0004g0026 others(21): Show |
30 | 238 | 0.1261 | 10 | c.-52 others(21): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 4647 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17298580 | T | TGGGCGGG others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(240): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(37): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(175): Show |
243 | 249 | 0.9759 | 10 | c.-68 others(19): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 71 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17298589 | C | CGGGGCGG others(3): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0126 | 1 | 368 | 0.0027 | 10 | c.-67 others(19): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 62 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17308644 | A | ATTATATA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0108 | 1 | 368 | 0.0027 | 10 | c.66- others(25): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17321594 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(89): Show |
124 | 252 | 0.4921 | 10 | c.254 others(25): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17321618 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 368 | 0.0082 | 10 | c.254 others(25): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18967.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0133 a0001c0004t0001g0140 |
2 | 51 | 0.0392 | 10 | c.844 others(25): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AHSG_chr3_186608060_186626318 | 186624994 | T | TTTGTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(38): Show |
205 | 438 | 0.4680 | 10 | c.*40 others(21): Show |
AHSG | ENSG00000145192.13 | transcript | ENST00000411641.7 | protein_coding | 3677 | chr3 | TogoVar | |||||||
AICDA_chr12_8597170_8617859 | 8610993 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0203 | 1 | 58 | 0.0172 | 10 | c.8+1 others(23): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689481 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0024 others(14): Show |
23 | 287 | 0.0801 | 10 | c.290 others(27): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689481 | G | GTGTGTAT others(3): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01169.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(1): Show |
4 | 268 | 0.0149 | 10 | c.290 others(27): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02698.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0144 a0001c0001t0002g0146 |
3 | 103 | 0.0291 | 10 | c.290 others(27): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01346.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0002g0003 a0001c0001t0002g0005 others(12): Show |
16 | 116 | 0.1379 | 10 | c.290 others(27): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 58 | 0.0172 | 10 | c.606 others(25): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130150977 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03130.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0043 a0001c0002t0001g0101 a0001c0004t0001g0087 others(2): Show |
5 | 129 | 0.0388 | 10 | c.250 others(27): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70133096 | A | AAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 462 | 0.0022 | 10 | c.-37 others(19): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 272 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70133098 | A | AAGAGAGA others(3): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 56 | 0.0357 | 10 | c.-37 others(19): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(3): Show | a0001c0001t0001g0038 a0001c0001t0002g0012 a0001c0001t0002g0344 others(6): Show |
9 | 33 | 0.2727 | 10 | c.-38 others(21): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143081953 | C | CCCTTTCC others(3): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0160 | 1 | 202 | 0.0050 | 10 | c.141 others(29): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143154752 | C | CACTGGGG others(3): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01891.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0004g0181 a0001c0001t0005g0170 a0001c0001t0010g0201 others(8): Show |
11 | 202 | 0.0545 | 10 | c.298 others(29): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0146 | 1 | 30 | 0.0333 | 10 | c.399 others(29): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 |
2 | 110 | 0.0182 | 10 | c.-21 others(27): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009968 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0046 | 1 | 397 | 0.0025 | 10 | c.135 others(25): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02027.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0006 a0001c0001t0001g0223 a0001c0001t0001g0247 others(10): Show |
16 | 73 | 0.2192 | 10 | c.574 others(25): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAAGAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01070.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0029others(9): Show | a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0063 others(19): Show |
24 | 294 | 0.0816 | 10 | c.*35 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(3): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01496.hp2 HG01884.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0002a0001c0004t0005a0001c0004t0033others(2): Show | a0001c0004t0002g0272 a0001c0004t0005g0141 a0001c0004t0033g0227 others(2): Show |
5 | 201 | 0.0249 | 10 | c.276 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCACAC others(3): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 | 1 | 275 | 0.0036 | 10 | c.276 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCAC others(3): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18978.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0012 | a0001c0001t0026g0246 a0001c0002t0012g0011 |
2 | 276 | 0.0072 | 10 | c.276 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18970.hp1 NA18973.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0062 a0001c0001t0004g0007 others(3): Show |
6 | 280 | 0.0214 | 10 | c.276 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0051a0003c0005t0035 | a0001c0001t0051g0198 a0003c0005t0035g0196 |
2 | 276 | 0.0072 | 10 | c.276 others(25): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01891.hp2 HG02071.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0017others(1): Show | a0001c0002t0007g0064 a0001c0002t0007g0282 a0001c0002t0007g0283 others(11): Show |
15 | 164 | 0.0915 | 10 | c.97- others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
AIP_chr11_67478026_67496103 | 67494793 | T | TGAGTGGG others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(189): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(33): Show |
192 | 339 | 0.5664 | 10 | c.*38 others(21): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3691 | chr11 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACACACA others(3): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0119 | 1 | 209 | 0.0048 | 10 | c.*14 others(21): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AGACTTGA others(3): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01257.hp2 others(18): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0002a0001c0004t0002a0001c0005t0002others(6): Show | a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0116 others(11): Show |
21 | 312 | 0.0673 | 10 | c.*57 others(21): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar |