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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTA | intron_variant | MODIFIER | HG01346.hp1 HG02004.hp1 HG02155.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0020others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0012t0006others(12): Show | a0001c0001t0001g0045 a0001c0001t0005g0085 a0001c0012t0006g0008 others(13): Show |
16 | 58 | 0.2759 | 6 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16491258 | A | AATTATT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(28): Show | a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0158 others(43): Show |
46 | 112 | 0.4107 | 6 | c.-29 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0034a0002c0011others(5): Show | a0001c0001t0001a0001c0034t0004a0002c0011t0007others(8): Show | a0001c0001t0001g0181 a0001c0034t0004g0065 a0002c0011t0007g0151 others(10): Show |
13 | 87 | 0.1494 | 6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16584271 | C | CACACAT | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02896.hp2 others(2): Show |
a0001a0002a0003 | a0001c0010a0002c0004a0002c0031others(2): Show | a0001c0010t0024a0002c0004t0002a0002c0031t0010others(2): Show | a0001c0010t0024g0048 a0002c0004t0002g0164 a0002c0031t0010g0173 others(2): Show |
5 | 176 | 0.0284 | 6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCGCA | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0008a0001c0012a0001c0032others(7): Show | a0001c0008t0002a0001c0008t0040a0001c0012t0006others(12): Show | a0001c0008t0002g0137 a0001c0008t0040g0154 a0001c0012t0006g0112 others(14): Show |
17 | 145 | 0.1172 | 6 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16613585 | G | GGGAGGC | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02896.hp1 |
a0001a0002 | a0001c0008a0001c0033a0002c0004 | a0001c0008t0001a0001c0033t0001a0002c0004t0002 | a0001c0008t0001g0009 a0001c0033t0001g0012 a0002c0004t0002g0164 |
3 | 180 | 0.0167 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16613587 | G | GAGGCGT | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02615.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0008a0001c0010a0001c0012others(5): Show | a0001c0008t0040a0001c0008t0047a0001c0010t0024others(9): Show | a0001c0008t0040g0154 a0001c0008t0047g0060 a0001c0010t0024g0048 others(12): Show |
15 | 180 | 0.0833 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16617766 | C | CAAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp2 NA18747.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0003c0009others(4): Show | a0001c0001t0030a0003c0002t0003a0003c0009t0001others(4): Show | a0001c0001t0030g0021 a0003c0002t0003g0007 a0003c0009t0001g0046 others(4): Show |
7 | 84 | 0.0833 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16644563 | G | GGTGTGT | intron_variant | MODIFIER | HG01361.hp2 HG03688.hp1 HG04115.hp1 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0003c0022others(2): Show | a0001c0001t0002a0001c0010t0004a0003c0022t0001others(2): Show | a0001c0001t0002g0020 a0001c0010t0004g0161 a0003c0022t0001g0104 others(2): Show |
5 | 88 | 0.0568 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG01361.hp2 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0011others(4): Show | a0002c0003t0001a0002c0004t0003a0002c0011t0001others(4): Show | a0002c0003t0001g0042 a0002c0004t0003g0006 a0002c0011t0001g0034 others(4): Show |
7 | 16 | 0.4375 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16689047 | C | CTGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01243.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0030a0001c0008t0001a0001c0008t0046others(20): Show | a0001c0001t0030g0021 a0001c0008t0001g0009 a0001c0008t0046g0062 others(22): Show |
25 | 163 | 0.1534 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATA | intron_variant | MODIFIER | HG02895.hp2 NA18960.hp1 |
a0004a0006 | a0004c0006a0006c0024 | a0004c0006t0009a0006c0024t0002 | a0004c0006t0009g0110 a0006c0024t0002g0170 |
2 | 158 | 0.0127 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730485 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG02135.hp2 others(4): Show |
a0001a0004a0005 | a0001c0010a0001c0034a0004c0005others(3): Show | a0001c0010t0004a0001c0034t0004a0004c0005t0008others(4): Show | a0001c0010t0004g0069 a0001c0034t0004g0065 a0004c0005t0008g0068 others(4): Show |
7 | 180 | 0.0389 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATATA | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01258.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0041a0002c0003others(4): Show | a0001c0001t0002a0001c0041t0036a0002c0003t0013others(6): Show | a0001c0001t0002g0020 a0001c0001t0002g0129 a0001c0041t0036g0095 others(10): Show |
13 | 57 | 0.2281 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATGTA | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 NA18986.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0002a0003c0009 | a0001c0001t0001a0003c0002t0003a0003c0002t0008others(2): Show | a0001c0001t0001g0178 a0003c0002t0003g0133 a0003c0002t0008g0140 others(2): Show |
5 | 49 | 0.1020 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATA | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02257.hp1 others(7): Show |
a0001a0002 | a0001c0008a0001c0012a0001c0019others(3): Show | a0001c0008t0046a0001c0012t0006a0001c0012t0048others(5): Show | a0001c0008t0046g0062 a0001c0012t0006g0052 a0001c0012t0048g0031 others(7): Show |
10 | 54 | 0.1852 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0004others(2): Show | a0001c0001t0010a0001c0010t0004a0002c0004t0002others(2): Show | a0001c0001t0010g0128 a0001c0010t0004g0069 a0002c0004t0002g0126 others(2): Show |
5 | 50 | 0.1000 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGTGT | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01261.hp2 others(3): Show |
a0001a0002a0003 | a0001c0010a0001c0012a0002c0003others(2): Show | a0001c0010t0004a0001c0012t0006a0002c0003t0001others(3): Show | a0001c0010t0004g0069 a0001c0012t0006g0008 a0002c0003t0001g0109 others(3): Show |
6 | 23 | 0.2609 | 6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745954 | G | GTGTGTA | intron_variant | MODIFIER | HG01978.hp1 HG02300.hp2 |
a0002a0003 | a0002c0003a0003c0013 | a0002c0003t0022a0003c0013t0001 | a0002c0003t0022g0119 a0003c0013t0001g0117 |
2 | 175 | 0.0114 | 6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp1 HG01071.hp1 HG01123.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0002c0016others(3): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(50): Show |
53 | 138 | 0.3841 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TATACAC | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 NA18941.hp1 others(20): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0148 a0002c0002t0001g0030 a0002c0002t0001g0031 others(20): Show |
23 | 108 | 0.2130 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACATAT | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0003a0011 | a0003c0004a0011c0013 | a0003c0004t0003a0011c0013t0005 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 others(1): Show |
4 | 263 | 0.0152 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GGTGTGT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(52): Show |
55 | 138 | 0.3986 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464329 | G | GTGTGTT | intron_variant | MODIFIER | HG01081.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 a0001c0003t0001g0191 a0001c0003t0001g0192 others(1): Show |
4 | 296 | 0.0135 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464335 | T | TTGTGTG | intron_variant | MODIFIER | HG03195.hp2 HG04204.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0004g0246 |
3 | 234 | 0.0128 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483194 | T | TACACAC | intron_variant | MODIFIER | HG02735.hp1 HG03017.hp1 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0236 others(5): Show |
8 | 207 | 0.0386 | 6 | c.252 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553597 | A | ATTTTTT | intron_variant | MODIFIER | HG01943.hp2 HG02280.hp1 HG02717.hp1 others(5): Show |
a0003a0005a0006others(1): Show | a0003c0004a0003c0012a0005c0023others(2): Show | a0003c0004t0003a0003c0004t0005a0003c0012t0003others(3): Show | a0003c0004t0003g0014 a0003c0004t0003g0024 a0003c0004t0005g0020 others(5): Show |
8 | 290 | 0.0276 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553602 | A | ATTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01928.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0037 a0002c0002t0001g0052 a0002c0002t0001g0058 others(17): Show |
20 | 163 | 0.1227 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | ATTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
a0001a0003a0007 | a0001c0003a0001c0010a0003c0005others(1): Show | a0001c0003t0001a0001c0010t0001a0003c0005t0001others(1): Show | a0001c0003t0001g0139 a0001c0003t0001g0144 a0001c0003t0001g0148 others(12): Show |
15 | 68 | 0.2206 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111591364 | T | TTAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0004a0005others(5): Show | a0003c0004a0003c0005a0003c0006others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(10): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | 296 | 0.1385 | 6 | c.251 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111596205 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01123.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0002c0016others(3): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0001others(5): Show | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 others(46): Show |
49 | 86 | 0.5698 | 6 | c.251 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92065889 | A | AAATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(137): Show |
a0003a0004a0006others(26): Show | a0003c0026a0004c0003a0006c0005others(37): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0020others(52): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(134): Show |
140 | 400 | 0.3500 | 6 | c.992 others(23): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105605042 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01258.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0018a0001c0001t0022a0001c0001t0046others(1): Show | a0001c0001t0018g0120 a0001c0001t0018g0168 a0001c0001t0022g0189 others(3): Show |
6 | 114 | 0.0526 | 6 | c.*28 others(17): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2809 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0076 others(44): Show |
47 | 57 | 0.8246 | 6 | c.151 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619495 | C | CATATAT | intron_variant | MODIFIER | HG03041.hp2 NA18747.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0218 a0001c0001t0002g0078 a0001c0001t0009g0146 |
3 | 241 | 0.0124 | 6 | c.151 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105630893 | G | GAAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0076 a0001c0001t0001g0086 others(14): Show |
17 | 250 | 0.0680 | 6 | c.120 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(30): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0090 others(30): Show |
33 | 73 | 0.4521 | 6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | T | TAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0026 a0001c0001t0002g0106 a0001c0001t0003g0042 others(7): Show |
10 | 29 | 0.3448 | 6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATA | intron_variant | MODIFIER | HG02027.hp2 NA19003.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0046 a0001c0001t0011g0156 a0001c0001t0011g0163 |
3 | 70 | 0.0429 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | C | CGTGTGT | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(2): Show | a0001c0001t0001g0144 a0001c0001t0001g0202 a0001c0001t0001g0236 others(4): Show |
7 | 30 | 0.2333 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105759484 | G | GTGTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0050 others(105): Show |
108 | 134 | 0.8060 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATA | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01358.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0071 others(29): Show |
32 | 51 | 0.6275 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01496.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 others(7): Show |
10 | 16 | 0.6250 | 6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | A | AATATAT | intron_variant | MODIFIER | HG00558.hp1 HG01934.hp1 HG01978.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0002g0078 others(11): Show |
14 | 106 | 0.1321 | 6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63863797 | C | CGCGGCG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01993.hp1 HG02004.hp2 others(4): Show |
a0001a0004a0015 | a0001c0001a0004c0012a0015c0038 | a0001c0001t0001a0001c0001t0013a0004c0012t0005others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0108 others(4): Show |
7 | 291 | 0.0241 | 6 | c.-47 others(15): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 69 | chr3 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCA | disruptive_inframe_insertion | MODERATE | HG00544.hp1 HG00597.hp1 HG00733.hp2 others(41): Show |
a0003 | a0003c0004a0003c0005a0003c0024others(2): Show | a0003c0004t0003a0003c0004t0016a0003c0004t0024others(6): Show | a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(41): Show |
44 | 250 | 0.1760 | 6 | c.113 others(13): Show |
p.Gln others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ATXN7_chr3_63858867_64008462 | 63934005 | C | CGTAGTT | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02257.hp2 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0003 a0004c0006t0004g0028 a0004c0006t0004g0131 others(3): Show |
7 | 297 | 0.0236 | 6 | c.395 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(27): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0006a0002c0002t0002a0002c0003t0002others(8): Show | a0001c0001t0006g0215 a0001c0001t0006g0234 a0002c0002t0002g0126 others(27): Show |
30 | 95 | 0.3158 | 6 | c.499 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63964073 | A | AACACAC | intron_variant | MODIFIER | HG01243.hp1 HG06807.hp1 NA19030.hp2 |
a0002a0022 | a0002c0002a0022c0020 | a0002c0002t0019a0002c0002t0033a0022c0020t0021 | a0002c0002t0019g0015 a0002c0002t0033g0013 a0022c0020t0021g0009 |
3 | 71 | 0.0423 | 6 | c.499 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63982623 | A | AGTGTGT | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01192.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 others(32): Show |
35 | 58 | 0.6034 | 6 | c.101 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |