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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FSIP1_chr15_39595031_39787841 | 39633091 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0124 | 1 | 254 | 0.0039 | 17 | c.118 others(38): Show |
FSIP1 | ENSG00000150667.8 | transcript | ENST00000350221.4 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
FSIP1_chr15_39595031_39787841 | 39749263 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG02040.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0014a0003c0003t0003 | a0001c0001t0001g0150a0001c0001t0001g0152a0001c0001t0001g0162others(3): Show | 6 | 254 | 0.0236 | 17 | c.560 others(34): Show |
FSIP1 | ENSG00000150667.8 | transcript | ENST00000350221.4 | protein_coding | 5/11 | chr15 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161437565 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 142 | 0.0070 | 17 | c.184 others(38): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161615293 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 NA19080.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0004 | a0001c0001t0001g0038a0001c0002t0001g0050a0002c0004t0004g0121 | 3 | 142 | 0.0211 | 17 | c.895 others(36): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
FST_chr5_53475629_53492134 | 53490247 | C | CACATATA others(10): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 462 | 0.0022 | 17 | c.*42 others(28): Show |
FST | ENSG00000134363.12 | transcript | ENST00000256759.8 | protein_coding | 3114 | chr5 | TogoVar | ||||||
FUBP3_chr9_130574577_130643352 | 130589706 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274a0001c0001t0001g0282 | 2 | 378 | 0.0053 | 17 | c.85- others(32): Show |
FUBP3 | ENSG00000107164.17 | transcript | ENST00000319725.10 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
FUBP3_chr9_130574577_130643352 | 130605908 | C | CGGGAGGC others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0237others(10): Show | 13 | 378 | 0.0344 | 17 | c.191 others(34): Show |
FUBP3 | ENSG00000107164.17 | transcript | ENST00000319725.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FUT2_chr19_48690971_48710951 | 48707901 | A | AAAAGAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01496.hp2 HG02145.hp2 others(1): Show |
a0002a0008 | a0002c0002a0008c0010 | a0002c0002t0003a0002c0002t0005a0008c0010t0003 | a0002c0002t0003g0008a0002c0002t0003g0129a0002c0002t0005g0017others(1): Show | 4 | 394 | 0.0102 | 17 | c.*39 others(28): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 1951 | chr19 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65575582 | T | TCCTTCCT others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03942.hp1 NA18966.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0175a0001c0001t0002g0107a0001c0001t0002g0115others(5): Show | 8 | 374 | 0.0214 | 17 | c.203 others(36): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65576696 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02622.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103a0001c0002t0001g0300 | 2 | 374 | 0.0054 | 17 | c.203 others(36): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65643663 | A | AAATACAC others(10): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03669.hp1 NA18954.hp2 others(1): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0291a0002c0004t0001g0227a0002c0004t0001g0250others(1): Show | 4 | 374 | 0.0107 | 17 | c.597 others(36): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65677114 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 374 | 0.0027 | 17 | c.835 others(34): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96078408 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 320 | 0.0031 | 17 | c.-97 others(36): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FUZ_chr19_49801866_49818292 | 49815352 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02738.hp1 HG03942.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0052a0003c0004t0001g0055others(1): Show | 4 | 410 | 0.0098 | 17 | c.-22 others(28): Show |
FUZ | ENSG00000010361.14 | transcript | ENST00000313777.9 | protein_coding | 2061 | chr19 | TogoVar | ||||||
FXR1_chr3_180907670_180987753 | 180931026 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0125 | 1 | 320 | 0.0031 | 17 | c.52- others(32): Show |
FXR1 | ENSG00000114416.19 | transcript | ENST00000357559.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FXYD1_chr19_35133824_35148109 | 35148095 | G | GAAAGAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 408 | 0.0025 | 17 | c.*52 others(28): Show |
FXYD1 | ENSG00000266964.6 | transcript | ENST00000351325.9 | protein_coding | 4987 | chr19 | TogoVar | ||||||
FXYD3_chr19_35110823_35129324 | 35117757 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0042a0001c0001t0001g0047others(35): Show | 90 | 414 | 0.2174 | 17 | c.-15 others(34): Show |
FXYD3 | ENSG00000089356.19 | transcript | ENST00000604404.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FXYD5_chr19_35149735_35174881 | 35152134 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 NA18747.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0225a0001c0001t0001g0247others(13): Show | 17 | 462 | 0.0368 | 17 | c.-26 others(28): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 2600 | chr19 | TogoVar | ||||||
FXYD5_chr19_35149735_35174881 | 35153033 | C | CTTTGTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01934.hp1 HG01981.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(3): Show | a0001c0001t0001g0259a0001c0001t0005g0061a0002c0002t0002g0002others(3): Show | 6 | 462 | 0.0130 | 17 | c.-17 others(28): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 1701 | chr19 | TogoVar | ||||||
FXYD7_chr19_35138255_35159302 | 35152134 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 NA18747.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0048others(10): Show | 15 | 444 | 0.0338 | 17 | c.220 others(32): Show |
FXYD7 | ENSG00000221946.8 | transcript | ENST00000270310.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FXYD7_chr19_35138255_35159302 | 35153033 | C | CTTTGTTT others(10): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01934.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0081a0001c0001t0001g0186others(3): Show | 6 | 444 | 0.0135 | 17 | c.221 others(32): Show |
FXYD7 | ENSG00000221946.8 | transcript | ENST00000270310.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
FYB2_chr1_56713789_56824404 | 56730411 | A | AGGAGAGG others(10): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289a0001c0001t0001g0318 | 2 | 380 | 0.0053 | 17 | c.179 others(36): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 15/19 | chr1 | TogoVar | ||||||
FYB2_chr1_56713789_56824404 | 56757687 | C | CTTCCTTC others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0124 | 1 | 380 | 0.0026 | 17 | c.109 others(36): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
FYN_chr6_111655332_111878452 | 111657969 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 234 | 0.0043 | 17 | c.*37 others(28): Show |
FYN | ENSG00000010810.18 | transcript | ENST00000354650.7 | protein_coding | 2362 | chr6 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197766430 | G | GGTTGTGT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0180 | 2 | 256 | 0.0078 | 17 | c.236 others(34): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197766430 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0160 | 1 | 256 | 0.0039 | 17 | c.236 others(34): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197766460 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03927.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0016others(1): Show | a0001c0001t0013g0176a0001c0001t0014g0188a0001c0001t0016g0158others(1): Show | 4 | 256 | 0.0156 | 17 | c.236 others(34): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
FZD7_chr2_202028855_202043441 | 202040052 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 2 | 420 | 0.0048 | 17 | c.*36 others(28): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1612 | chr2 | TogoVar | ||||||
G2E3_chr14_30554158_30625064 | 30617930 | A | AGTAAATC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp1 others(227): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(200): Show | 230 | 356 | 0.6461 | 17 | c.*14 others(28): Show |
G2E3 | ENSG00000092140.16 | transcript | ENST00000206595.11 | protein_coding | 15/15 | 1410 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
G3BP1_chr5_151766954_151817785 | 151796660 | T | TTGTGTGT others(10): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 342 | 0.0029 | 17 | c.540 others(32): Show |
G3BP1 | ENSG00000145907.16 | transcript | ENST00000356245.8 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75674719 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 HG02738.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0199a0001c0001t0001g0208a0001c0001t0001g0209others(1): Show | 4 | 330 | 0.0121 | 17 | c.-15 others(28): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 1309 | chr4 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143413824 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02572.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0026a0001c0001t0003g0027others(9): Show | 13 | 194 | 0.0670 | 17 | c.73- others(32): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GAB2_chr11_78210293_78422820 | 78214234 | A | AGAGAGGC others(10): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0116 | 1 | 288 | 0.0035 | 17 | c.*50 others(28): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1058 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78227631 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 288 | 0.0035 | 17 | c.621 others(32): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78267857 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0013 | 1 | 288 | 0.0035 | 17 | c.376 others(36): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78318369 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 HG03516.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0046a0001c0004t0006a0002c0006t0007others(1): Show | a0001c0001t0046g0116a0001c0004t0006g0103a0002c0006t0007g0122others(1): Show | 4 | 288 | 0.0139 | 17 | c.76- others(34): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78322298 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0015 | 1 | 288 | 0.0035 | 17 | c.76- others(34): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78407675 | A | AAGAAAGA others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001a0007 | a0001c0003a0001c0004a0007c0018 | a0001c0003t0004a0001c0003t0043a0001c0004t0006others(1): Show | a0001c0003t0004g0132a0001c0003t0004g0133a0001c0003t0004g0134others(3): Show | 6 | 288 | 0.0208 | 17 | c.75+ others(32): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
GAB2_chr11_78210293_78422820 | 78422251 | C | CCCAAAGT others(10): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 288 | 0.0035 | 17 | c.-45 others(28): Show |
GAB2 | ENSG00000033327.13 | transcript | ENST00000361507.5 | protein_coding | 4432 | chr11 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98492349 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0035a0001c0003t0015 | a0001c0001t0035g0047a0001c0003t0015g0041 | 2 | 164 | 0.0122 | 17 | c.732 others(34): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 4/18 | chr9 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98713794 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00621.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(24): Show | a0001c0001t0001g0146a0001c0001t0001g0149a0001c0001t0001g0158others(35): Show | 38 | 164 | 0.2317 | 17 | c.-50 others(28): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 4860 | chr9 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50282560 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01168.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0283a0001c0001t0003g0102a0001c0001t0004g0004others(15): Show | 19 | 366 | 0.0519 | 17 | c.999 others(34): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50337129 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 366 | 0.0027 | 17 | c.-1+ others(34): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151070178 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01175.hp1 HG02602.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0010a0002c0002t0036a0002c0002t0056 | a0002c0002t0010g0078a0002c0002t0010g0080a0002c0002t0010g0084others(3): Show | 6 | 264 | 0.0227 | 17 | c.-75 others(26): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 582 | chr1 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151104775 | C | CTCTCTTC others(10): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0145 | 1 | 264 | 0.0038 | 17 | c.736 others(34): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABRA2_chr4_46238548_46395128 | 46389802 | G | GAGAGAGA others(10): Show |
5_prime_UTR_variant | MODIFIER | HG02056.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0194a0001c0002t0063 | a0001c0001t0194g0251a0001c0002t0063g0036 | 2 | 258 | 0.0078 | 17 | c.-79 others(24): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1097 | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47123578 | C | CATATATT others(10): Show |
intron_variant | MODIFIER | HG03704.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0067a0001c0001t0004g0138 | 2 | 158 | 0.0127 | 17 | c.241 others(36): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161416696 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 266 | 0.0038 | 17 | c.459 others(34): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161429357 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01943.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0045a0001c0001t0058a0001c0003t0021 | a0001c0001t0045g0010a0001c0001t0058g0134a0001c0003t0021g0147others(1): Show | 4 | 266 | 0.0150 | 17 | c.459 others(36): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554093 | G | GTATAAAG others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0043a0001c0001t0003g0051others(16): Show | 19 | 204 | 0.0931 | 17 | c.108 others(36): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar |