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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03831.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0028 a0002c0002t0002g0063 |
2 | 64 | 0.0313 | 10 | c.380 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAAATA others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 HG02074.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0014 a0002c0002t0001g0039 a0002c0002t0001g0042 others(2): Show |
5 | 67 | 0.0746 | 10 | c.380 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAATATA others(3): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0003g0150 a0002c0002t0001g0018 a0002c0002t0001g0045 others(4): Show |
7 | 69 | 0.1014 | 10 | c.380 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0158 | 1 | 63 | 0.0159 | 10 | c.380 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77692846 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 29 | 0.0345 | 10 | c.484 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716319 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 201 | 0.0050 | 10 | c.133 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77777380 | C | CAACAAAA others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 214 | 0.0047 | 10 | c.20+ others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0131 others(17): Show |
20 | 143 | 0.1399 | 10 | c.-49 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142454437 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0012 others(1): Show |
4 | 184 | 0.0217 | 10 | c.765 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 45/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472085 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02622.hp1 HG02818.hp1 others(4): Show |
a0001a0004a0006 | a0001c0001a0001c0004a0004c0009others(1): Show | a0001c0001t0001a0001c0004t0001a0004c0009t0001others(1): Show | a0001c0001t0001g0113 a0001c0004t0001g0146 a0001c0004t0001g0207 others(4): Show |
7 | 98 | 0.0714 | 10 | c.622 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472097 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0318 | 1 | 320 | 0.0031 | 10 | c.622 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATAT others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03453.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0021 a0001c0006t0001g0022 |
2 | 23 | 0.0870 | 10 | c.589 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CTATATAT others(3): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19060.hp2 NA19070.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 a0002c0002t0001g0288 a0002c0002t0001g0298 others(1): Show |
4 | 25 | 0.1600 | 10 | c.589 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516984 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0146 a0001c0004t0001g0203 a0001c0004t0001g0204 others(5): Show |
8 | 159 | 0.0503 | 10 | c.438 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528854 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02523.hp1 HG04199.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 others(1): Show |
4 | 302 | 0.0132 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0195 a0001c0008t0001g0198 a0001c0008t0001g0200 |
3 | 101 | 0.0297 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02630.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0004t0002a0001c0008t0001 | a0001c0004t0001g0145 a0001c0004t0002g0005 a0001c0004t0002g0006 others(1): Show |
4 | 102 | 0.0392 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03669.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0004t0001g0147 others(3): Show |
6 | 104 | 0.0577 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATTTTT others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0117 a0004c0009t0001g0148 |
2 | 100 | 0.0200 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03486.hp2 NA18943.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0055 a0001c0001t0001g0102 a0004c0009t0001g0149 others(1): Show |
4 | 102 | 0.0392 | 10 | c.394 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02129.hp2 HG04228.hp2 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0125 others(1): Show |
5 | 116 | 0.0431 | 10 | c.335 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45667946 | G | GATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 34 | 0.0294 | 10 | c.-41 others(21): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45707650 | G | GATATAAT others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 308 | 0.0032 | 10 | c.647 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45740719 | C | CACACATA others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0295 |
2 | 213 | 0.0094 | 10 | c.117 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795354 | G | GATTCTAT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0088 others(24): Show |
27 | 147 | 0.1837 | 10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795415 | A | ATTCTATT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02602.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016 | a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0109 others(5): Show |
8 | 293 | 0.0273 | 10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795415 | A | ATTCTATT others(3): Show |
intron_variant | MODIFIER | NA20752.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0155 a0001c0001t0010g0104 |
2 | 287 | 0.0070 | 10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45819192 | A | AAATAGAA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00738.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(18): Show |
21 | 64 | 0.3281 | 10 | c.123 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG03516.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0003c0009others(1): Show | a0001c0001t0002a0003c0002t0003a0003c0009t0001others(1): Show | a0001c0001t0002g0020 a0003c0002t0003g0133 a0003c0009t0001g0073 others(1): Show |
4 | 29 | 0.1379 | 10 | c.191 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0020others(2): Show | a0001c0001t0011a0001c0019t0001a0001c0020t0015others(2): Show | a0001c0001t0011g0131 a0001c0019t0001g0024 a0001c0020t0015g0125 others(2): Show |
5 | 45 | 0.1111 | 10 | c.191 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16367333 | T | TTCTCTTT others(3): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 174 | 0.0057 | 10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0091 | 1 | 43 | 0.0233 | 10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01261.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0002c0004others(5): Show | a0001c0001t0002a0001c0019t0001a0002c0004t0003others(7): Show | a0001c0001t0002g0020 a0001c0019t0001g0107 a0002c0004t0003g0166 others(8): Show |
11 | 53 | 0.2075 | 10 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0008 | a0001c0008t0040 | a0001c0008t0040g0154 | 1 | 109 | 0.0092 | 10 | c.-36 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16562453 | A | AAGGAAAG others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0011a0001c0008t0012a0002c0004t0003others(3): Show | a0001c0001t0011g0131 a0001c0008t0012g0148 a0002c0004t0003g0051 others(4): Show |
7 | 81 | 0.0864 | 10 | c.-36 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02809.hp2 others(1): Show |
a0001a0002a0003 | a0001c0010a0002c0039a0003c0002 | a0001c0010t0024a0002c0039t0012a0003c0002t0001others(1): Show | a0001c0010t0024g0048 a0002c0039t0012g0030 a0003c0002t0001g0071 others(1): Show |
4 | 132 | 0.0303 | 10 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCACAC others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0020a0001c0033a0002c0004others(8): Show | a0001c0020t0015a0001c0033t0001a0002c0004t0003others(10): Show | a0001c0020t0015g0017 a0001c0033t0001g0012 a0002c0004t0003g0051 others(15): Show |
18 | 146 | 0.1233 | 10 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16644563 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18951.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0002 | a0001c0001t0001g0105 a0004c0005t0002g0160 |
2 | 85 | 0.0235 | 10 | c.-48 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16682203 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0160 | 1 | 56 | 0.0179 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00642.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(8): Show | a0001c0001t0001a0001c0008t0001a0001c0008t0046others(12): Show | a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0008t0001g0009 others(13): Show |
16 | 25 | 0.6400 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02280.hp1 HG02523.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0007 | a0001c0001t0001a0001c0001t0005a0001c0012t0006others(1): Show | a0001c0001t0001g0103 a0001c0001t0005g0085 a0001c0012t0006g0112 others(2): Show |
5 | 161 | 0.0311 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18944.hp2 |
a0001a0003 | a0001c0008a0003c0002 | a0001c0008t0001a0003c0002t0009 | a0001c0008t0001g0009 a0003c0002t0009g0094 |
2 | 46 | 0.0435 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATGTAT others(3): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03492.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0123 a0004c0006t0002g0124 |
2 | 46 | 0.0435 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG03225.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0023others(3): Show | a0001c0001t0001g0043 a0001c0001t0002g0077 a0001c0010t0023g0023 others(3): Show |
6 | 50 | 0.1200 | 10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0006 | a0006c0024 | a0006c0024t0002 | a0006c0024t0002g0170 | 1 | 18 | 0.0556 | 10 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | G | GCCCCCCC others(3): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG02602.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(2): Show |
5 | 115 | 0.0435 | 10 | c.-32 others(19): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(6): Show |
a0003a0010 | a0003c0004a0003c0006a0010c0015 | a0003c0004t0003a0003c0004t0005a0003c0006t0003others(1): Show | a0003c0004t0003g0014 a0003c0004t0003g0015 a0003c0004t0005g0018 others(6): Show |
9 | 268 | 0.0336 | 10 | c.289 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03209.hp1 HG04115.hp2 NA19030.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0006a0001c0003t0001a0003c0004t0003 | a0001c0001t0006g0235 a0001c0001t0006g0279 a0001c0003t0001g0194 others(1): Show |
4 | 87 | 0.0460 | 10 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464335 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0296 | 1 | 232 | 0.0043 | 10 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 HG02965.hp2 others(8): Show |
a0003a0005a0006 | a0003c0004a0003c0012a0005c0023others(1): Show | a0003c0004t0003a0003c0004t0005a0003c0012t0003others(2): Show | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 others(8): Show |
11 | 156 | 0.0705 | 10 | c.193 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar |