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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115683548 | G | GTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 others(22): Show |
25 | 60 | 0.4167 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115696870 | C | CGAGAGA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(6): Show | a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0011g0114 others(7): Show |
10 | 94 | 0.1064 | 6 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115729495 | T | TTGTGTG | intron_variant | MODIFIER | HG01943.hp1 HG02280.hp2 HG02572.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0048a0001c0003t0002 | a0001c0001t0008g0023 a0001c0001t0048g0123 a0001c0003t0002g0083 |
3 | 17 | 0.1765 | 6 | c.390 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115740821 | A | AACACAC | intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0043 | a0001c0001t0022g0032 a0001c0001t0043g0098 |
2 | 118 | 0.0169 | 6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115743238 | T | TAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(3): Show | a0001c0001t0001g0101 a0001c0001t0013g0018 a0001c0001t0014g0001 others(3): Show |
6 | 13 | 0.4615 | 6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115772593 | C | CTGTGTG | intron_variant | MODIFIER | HG01071.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0015a0002c0014t0009 | a0001c0001t0015g0062 a0002c0014t0009g0071 |
2 | 91 | 0.0220 | 6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115772597 | C | CTGTGTG | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 NA18994.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0004a0001c0003t0045 | a0001c0001t0008g0030 a0001c0002t0004g0037 a0001c0002t0004g0052 others(4): Show |
7 | 43 | 0.1628 | 6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115815415 | A | ATGTGTG | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01123.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(13): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 others(25): Show |
28 | 37 | 0.7568 | 6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0002g0014 a0001c0001t0002g0080 a0001c0001t0014g0001 others(4): Show |
7 | 13 | 0.5385 | 6 | c.401 others(25): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3484909 | A | AATTATT | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0001t0001g0163 others(14): Show |
17 | 119 | 0.1429 | 6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3485610 | G | GTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01891.hp1 others(8): Show |
a0001a0004a0008 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0005a0001c0003t0002a0001c0003t0007others(6): Show | a0001c0001t0005g0175 a0001c0003t0002g0215 a0001c0003t0002g0216 others(8): Show |
11 | 53 | 0.2075 | 6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3492168 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(68): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0003c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(68): Show |
71 | 75 | 0.9467 | 6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3492854 | G | GAGGCGC | intron_variant | MODIFIER | HG01358.hp2 NA19075.hp1 |
a0003a0016 | a0003c0017a0016c0032 | a0003c0017t0021a0016c0032t0001 | a0003c0017t0021g0197 a0016c0032t0001g0195 |
2 | 156 | 0.0128 | 6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | chr20 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3492854 | G | GGCGCGC | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02015.hp2 others(16): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0011others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(10): Show | a0001c0001t0001g0163 a0001c0001t0005g0175 a0001c0001t0010g0011 others(16): Show |
19 | 173 | 0.1098 | 6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3506057 | G | GACACAT | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02647.hp2 others(9): Show |
a0001a0002a0007others(2): Show | a0001c0003a0002c0004a0007c0009others(2): Show | a0001c0003t0010a0001c0003t0035a0002c0004t0011others(4): Show | a0001c0003t0010g0206 a0001c0003t0035g0205 a0002c0004t0011g0150 others(9): Show |
12 | 203 | 0.0591 | 6 | c.411 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3535588 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03098.hp1 others(1): Show |
a0001a0013 | a0001c0003a0001c0005a0013c0021 | a0001c0003t0002a0001c0005t0007a0013c0021t0034 | a0001c0003t0002g0214 a0001c0003t0002g0217 a0001c0005t0007g0213 others(1): Show |
4 | 60 | 0.0667 | 6 | c.494 others(21): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3535626 | C | CACACAT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01106.hp2 others(10): Show |
a0001a0012 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0005a0001c0003t0007a0001c0005t0007others(4): Show | a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0187 others(10): Show |
13 | 207 | 0.0628 | 6 | c.494 others(21): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3544496 | T | TGTGGTG | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(7): Show |
a0001a0008 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0003t0031a0001c0005t0007others(3): Show | a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(7): Show |
10 | 216 | 0.0463 | 6 | c.609 others(23): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3609714 | A | ATGTGTG | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0002g0102 a0001c0001t0005g0080 a0001c0001t0009g0046 others(6): Show |
9 | 34 | 0.2647 | 6 | c.380 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77538230 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG02717.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0198 a0001c0001t0002g0140 a0001c0001t0004g0185 others(10): Show |
13 | 137 | 0.0949 | 6 | c.670 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77563702 | C | CGTGTGT | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG03831.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0198 a0001c0001t0002g0216 a0001c0001t0009g0001 others(1): Show |
4 | 79 | 0.0506 | 6 | c.632 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG01515.hp1 HG01517.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0130 others(8): Show |
11 | 27 | 0.4074 | 6 | c.455 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77659524 | C | CACACAG | intron_variant | MODIFIER | HG01069.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0001 | a0001c0001t0003g0109 a0001c0011t0001g0108 |
2 | 216 | 0.0093 | 6 | c.412 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 12/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77667295 | A | ATGTGTG | intron_variant | MODIFIER | HG00323.hp2 HG02056.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133 a0001c0001t0002g0099 a0001c0001t0002g0111 others(3): Show |
6 | 20 | 0.3000 | 6 | c.381 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77692846 | A | AGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00673.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0152 others(28): Show |
31 | 59 | 0.5254 | 6 | c.484 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790926 | A | ATATGTG | upstream_gene_variant | MODIFIER | HG02895.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0067 a0001c0001t0014g0179 |
2 | 216 | 0.0093 | 6 | c.-49 others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4711 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01496.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 others(6): Show |
9 | 132 | 0.0682 | 6 | c.-49 others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142447010 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(23): Show |
a0001a0012 | a0001c0004a0001c0006a0012c0021 | a0001c0004t0001a0001c0004t0002a0001c0006t0001others(1): Show | a0001c0004t0001g0145 a0001c0004t0001g0203 a0001c0004t0001g0204 others(23): Show |
26 | 320 | 0.0813 | 6 | c.*24 others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 2224 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472085 | T | TTGTGTG | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01496.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0095 others(18): Show |
21 | 112 | 0.1875 | 6 | c.622 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATA | intron_variant | MODIFIER | HG02071.hp2 HG02922.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0006t0001g0019 |
3 | 24 | 0.1250 | 6 | c.589 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CTATATA | intron_variant | MODIFIER | HG00438.hp1 HG01361.hp2 HG02056.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0210 a0002c0002t0001g0231 a0002c0002t0001g0275 others(2): Show |
5 | 26 | 0.1923 | 6 | c.589 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516984 | A | AATATAT | intron_variant | MODIFIER | HG00621.hp1 HG02630.hp2 HG04228.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0018a0008c0015 | a0001c0001t0001a0002c0018t0001a0008c0015t0001 | a0001c0001t0001g0035 a0001c0001t0001g0125 a0001c0001t0001g0129 others(3): Show |
6 | 157 | 0.0382 | 6 | c.438 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528875 | A | ATTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02083.hp1 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 others(11): Show |
14 | 309 | 0.0453 | 6 | c.394 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528877 | A | ATTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01070.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 others(15): Show |
18 | 249 | 0.0723 | 6 | c.394 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45734869 | A | ATATTAT | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01099.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0074 others(24): Show |
27 | 140 | 0.1929 | 6 | c.895 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45740679 | T | TACACAC | intron_variant | MODIFIER | HG02056.hp2 NA18939.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0111 |
3 | 49 | 0.0612 | 6 | c.117 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45752565 | T | TTGGGGC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0082 others(95): Show |
99 | 241 | 0.4108 | 6 | 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 | 45766679 | T | TTTTATC | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0270 others(7): Show |
10 | 314 | 0.0318 | 6 | c.117 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACACA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01978.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0019a0003c0002a0004c0005others(3): Show | a0001c0019t0001a0003c0002t0002a0004c0005t0002others(3): Show | a0001c0019t0001g0107 a0003c0002t0002g0090 a0004c0005t0002g0177 others(6): Show |
9 | 34 | 0.2647 | 6 | c.191 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCTCACA | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp2 HG02135.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0005others(1): Show | a0001c0001t0044a0003c0002t0003a0003c0002t0008others(3): Show | a0001c0001t0044g0118 a0003c0002t0003g0061 a0003c0002t0008g0063 others(4): Show |
7 | 32 | 0.2188 | 6 | c.191 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTT | intron_variant | MODIFIER | HG02896.hp2 HG03492.hp1 NA18946.hp1 others(3): Show |
a0002a0004 | a0002c0031a0004c0005a0004c0006 | a0002c0031t0010a0004c0005t0008a0004c0006t0002 | a0002c0031t0010g0173 a0004c0005t0008g0068 a0004c0006t0002g0040 others(3): Show |
6 | 46 | 0.1304 | 6 | c.191 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16327633 | G | GTGCTGC | disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(36): Show |
a0003 | a0003c0002a0003c0009a0003c0013others(5): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0003others(19): Show | a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0002g0090 others(36): Show |
39 | 80 | 0.4875 | 6 | c.672 others(13): Show |
p.Gln others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1569/10557 | 677/2448 | 226/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGCTGC | disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(6): Show | a0001c0001t0001a0001c0010t0004a0001c0010t0014others(11): Show | a0001c0001t0001g0181 a0001c0010t0004g0069 a0001c0010t0014g0082 others(17): Show |
20 | 125 | 0.1600 | 6 | c.621 others(13): Show |
p.Gln others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16367331 | G | GTTTCTC | intron_variant | MODIFIER | HG00597.hp2 HG03130.hp2 HG03834.hp2 others(8): Show |
a0002a0004 | a0002c0039a0004c0005a0004c0006others(2): Show | a0002c0039t0012a0004c0005t0002a0004c0006t0002others(2): Show | a0002c0039t0012g0030 a0004c0005t0002g0072 a0004c0005t0002g0075 others(8): Show |
11 | 180 | 0.0611 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16367362 | T | TCTCACA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(5): Show |
a0004a0005 | a0004c0005a0005c0007a0005c0017 | a0004c0005t0002a0004c0005t0026a0005c0007t0005others(2): Show | a0004c0005t0002g0096 a0004c0005t0026g0088 a0005c0007t0005g0036 others(5): Show |
8 | 71 | 0.1127 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16371716 | A | ATTTATT | intron_variant | MODIFIER | HG00735.hp1 HG02723.hp1 HG03453.hp1 others(1): Show |
a0002a0003a0005 | a0002c0003a0002c0004a0003c0002others(1): Show | a0002c0003t0033a0002c0004t0035a0003c0002t0016others(1): Show | a0002c0003t0033g0165 a0002c0004t0035g0018 a0003c0002t0016g0111 others(1): Show |
4 | 180 | 0.0222 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TCACACA | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01261.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0003a0003c0015others(2): Show | a0001c0010t0004a0002c0003t0002a0003c0015t0025others(2): Show | a0001c0010t0004g0069 a0001c0010t0004g0144 a0002c0003t0002g0120 others(3): Show |
6 | 73 | 0.0822 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01257.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0004others(13): Show | a0001c0001t0001g0105 a0001c0001t0002g0129 a0001c0010t0004g0050 others(15): Show |
18 | 60 | 0.3000 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16471191 | A | AACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0020a0001c0008t0010others(11): Show | a0001c0001t0001g0158 a0001c0001t0020g0002 a0001c0008t0010g0038 others(12): Show |
15 | 95 | 0.1579 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16471688 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01361.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(21): Show | a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0010g0128 others(27): Show |
30 | 144 | 0.2083 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar |