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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATR_chr3_142444235_142583733 | 142578711 | GCTGCGAG others(30): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0005 a0001c0004t0002g0006 |
2 | 320 | 0.0063 | -37 | c.-44 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/47 | 8 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45671960 | C | T | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0087 a0001c0001t0006g0119 a0001c0001t0006g0120 others(1): Show |
4 | 314 | 0.0127 | 0 | c.-10 others(4): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 104 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45671990 | C | T | 5_prime_UTR_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0247 | 1 | 314 | 0.0032 | 0 | c.-74 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 74 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45672005 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0299 a0001c0001t0008g0301 |
2 | 314 | 0.0064 | 0 | c.-59 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 59 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45672016 | C | T | 5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0300 | 1 | 314 | 0.0032 | 0 | c.-48 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 48 | chr22 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71848016 | G | A | 5_prime_UTR_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 416 | 0.0024 | 0 | c.-17 others(4): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/3 | 1725 | chr16 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71849700 | A | C | 5_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0005 a0001c0001t0019g0009 |
2 | 416 | 0.0048 | 0 | c.-41 others(3): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 41 | chr16 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16328450 | C | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01258.hp2 HG02300.hp2 |
a0002 | a0002c0003 | a0002c0003t0013a0002c0003t0022 | a0002c0003t0013g0027 a0002c0003t0013g0033 a0002c0003t0022g0119 |
3 | 180 | 0.0167 | 0 | c.-14 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 140 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16657827 | T | C | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0012others(6): Show | a0001c0001t0011a0001c0008t0011a0001c0008t0012others(8): Show | a0001c0001t0011g0131 a0001c0008t0011g0053 a0001c0008t0012g0148 others(8): Show |
11 | 180 | 0.0611 | 0 | c.-54 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/8 | 329517 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761371 | C | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-80 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433061 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761376 | G | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-80 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433066 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761382 | G | C | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-81 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433072 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761386 | C | T | 5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0003 | 1 | 180 | 0.0056 | 0 | c.-81 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433076 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761416 | T | C | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-84 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433106 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761429 | G | A | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-86 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433119 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761444 | G | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-87 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433134 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761452 | A | G | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 180 | 0.0056 | 0 | c.-88 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433142 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761458 | A | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0001 | 1 | 180 | 0.0056 | 0 | c.-89 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433148 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28823017 | C | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 | 1 | 380 | 0.0026 | 0 | c.-24 others(4): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 243 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28823057 | A | AC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG02970.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0016a0007c0017 | a0001c0001t0003a0001c0001t0008a0001c0016t0003others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0088 others(3): Show |
6 | 380 | 0.0158 | 1 | c.-19 others(5): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 197 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATXN2L_chr16_28817999_28842232 | 28823100 | C | T | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02735.hp2 HG03942.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0026 | a0001c0001t0004a0008c0026t0004 | a0001c0001t0004g0001 a0008c0026t0004g0001 |
4 | 380 | 0.0105 | 0 | c.-16 others(4): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 160 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28823116 | C | G | 5_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0109 | 1 | 380 | 0.0026 | 0 | c.-14 others(4): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 144 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28823218 | C | T | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02683.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 a0001c0001t0005g0078 |
3 | 380 | 0.0079 | 0 | c.-42 others(3): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 42 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28823242 | C | A | 5_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0109 | 1 | 380 | 0.0026 | 0 | c.-18 others(3): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 18 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111599125 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
a0001a0008 | a0001c0001a0001c0019a0008c0018 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(79): Show |
82 | 296 | 0.2770 | 0 | c.-91 others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 91 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111599175 | G | A | 5_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0215 | 1 | 296 | 0.0034 | 0 | c.-14 others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 141 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111599196 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
a0001a0008 | a0001c0001a0001c0019a0008c0018 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(79): Show |
82 | 296 | 0.2770 | 0 | c.-16 others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 162 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74537851 | C | G | 5_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0080 | a0001c0002t0080g0000 | 1 | 406 | 0.0025 | 0 | c.-26 others(4): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 262 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74537861 | G | A | 5_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0000 | 1 | 406 | 0.0025 | 0 | c.-25 others(4): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 252 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74537947 | G | A | 5_prime_UTR_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0000 | 1 | 406 | 0.0025 | 0 | c.-16 others(4): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 166 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74537966 | T | A | 5_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0000 | 1 | 406 | 0.0025 | 0 | c.-14 others(4): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 147 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74538099 | G | T | 5_prime_UTR_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0000 | 1 | 406 | 0.0025 | 0 | c.-14 others(3): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 14 | chr12 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44198088 | G | T | 5_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0040 | 1 | 378 | 0.0026 | 0 | c.-18 others(3): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 2/13 | 18 | chr17 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44199508 | G | C | 5_prime_UTR_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0089 | 1 | 378 | 0.0026 | 0 | c.-73 others(3): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 1/13 | 1438 | chr17 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44199559 | A | G | 5_prime_UTR_variant | MODIFIER | HG01993.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 a0001c0001t0009g0036 |
2 | 378 | 0.0053 | 0 | c.-12 others(4): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 1/13 | 1489 | chr17 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44199639 | G | A | 5_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0090 | 1 | 378 | 0.0026 | 0 | c.-20 others(4): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 1/13 | 1569 | chr17 | TogoVar | ||||||
ATXN7L3_chr17_44186805_44204884 | 44199809 | G | T | 5_prime_UTR_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0034 | 1 | 378 | 0.0026 | 0 | c.-37 others(4): Show |
ATXN7L3 | ENSG00000087152.16 | transcript | ENST00000587097.6 | protein_coding | 1/13 | 1739 | chr17 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863932 | G | A | 5_prime_UTR_variant | MODIFIER | NA18972.hp1 | a0015 | a0015c0037 | a0015c0037t0023 | a0015c0037t0023g0231 | 1 | 298 | 0.0034 | 0 | c.-33 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48667 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863937 | A | AGCCGC | 5_prime_UTR_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 a0001c0001t0015g0073 |
3 | 298 | 0.0101 | 5 | c.-31 others(14): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48641 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863941 | GCGCCGCG others(12): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show |
a0003a0009a0014others(3): Show | a0003c0004a0003c0005a0003c0026others(7): Show | a0003c0004t0003a0003c0004t0016a0003c0004t0024others(12): Show | a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(47): Show |
50 | 298 | 0.1678 | -19 | c.-32 others(28): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48633 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863946 | GCGCCGCG others(10): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0002g0225 a0001c0001t0006g0214 a0001c0001t0006g0215 others(82): Show |
85 | 296 | 0.2872 | -17 | c.-31 others(26): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48630 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863951 | G | GCGC | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02132.hp1 others(18): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0004c0013others(3): Show | a0001c0001t0001a0004c0006t0004a0004c0013t0004others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0129 a0004c0006t0004g0003 others(17): Show |
21 | 292 | 0.0719 | 3 | c.-29 others(12): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48620 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863951 | GCGCCGCC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02258.hp2 HG02723.hp2 others(3): Show |
a0008a0012 | a0008c0011a0012c0017 | a0008c0011t0009a0012c0017t0017 | a0008c0011t0009g0020 a0008c0011t0009g0029 a0008c0011t0009g0030 others(3): Show |
6 | 277 | 0.0217 | -9 | c.-29 others(18): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48621 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863972 | C | G | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-29 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48627 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863973 | C | A | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-29 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48626 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863974 | G | C | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-29 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48625 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863975 | CCG | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0002g0225 a0001c0001t0006g0214 a0001c0001t0006g0215 others(82): Show |
85 | 298 | 0.2852 | -2 | c.-29 others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48620 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63863980 | G | C | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-28 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48619 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863981 | G | T | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-28 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48618 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863982 | A | C | 5_prime_UTR_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0005 | a0005c0008 | a0005c0008t0022 | a0005c0008t0022g0210 a0005c0008t0022g0226 |
2 | 298 | 0.0067 | 0 | c.-28 others(4): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48617 | chr3 | TogoVar |