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 | 16679276 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0012others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(27): Show | a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0178 others(39): Show |
42 | 143 | 0.2937 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01168.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0001c0034others(5): Show | a0001c0001t0001a0001c0012t0048a0001c0034t0004others(7): Show | a0001c0001t0001g0045 a0001c0012t0048g0031 a0001c0034t0004g0065 others(7): Show |
10 | 19 | 0.5263 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02132.hp2 HG02135.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0010others(7): Show | a0001c0001t0001g0083 a0001c0001t0002g0076 a0001c0008t0010g0038 others(7): Show |
10 | 166 | 0.0602 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03209.hp2 |
a0002a0003 | a0002c0018a0003c0013 | a0002c0018t0002a0003c0013t0002 | a0002c0018t0002g0004 a0003c0013t0002g0029 |
2 | 46 | 0.0435 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0020others(15): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0029others(21): Show | a0001c0001t0001g0037 a0001c0001t0001g0158 a0001c0001t0001g0159 others(28): Show |
31 | 75 | 0.4133 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0020a0001c0042a0002c0003others(3): Show | a0001c0020t0015a0001c0042t0038a0002c0003t0009others(3): Show | a0001c0020t0015g0017 a0001c0042t0038g0087 a0002c0003t0009g0055 others(3): Show |
6 | 50 | 0.1200 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01169.hp1 HG02257.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0007others(1): Show | a0001c0001t0001a0002c0004t0009a0005c0007t0001others(1): Show | a0001c0001t0001g0108 a0002c0004t0009g0163 a0005c0007t0001g0098 others(1): Show |
4 | 21 | 0.1905 | 8 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 NA18989.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0025 a0002c0002t0001g0062 a0002c0002t0001g0096 others(1): Show |
4 | 89 | 0.0449 | 8 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02965.hp2 others(1): Show |
a0003a0005 | a0003c0004a0005c0023 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(1): Show | a0003c0004t0003g0022 a0003c0004t0005g0006 a0003c0004t0008g0215 others(1): Show |
4 | 263 | 0.0152 | 8 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02145.hp1 HG02486.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0026others(4): Show | a0001c0001t0006a0001c0003t0001a0001c0026t0001others(6): Show | a0001c0001t0006g0267 a0001c0003t0001g0166 a0001c0003t0001g0198 others(12): Show |
15 | 98 | 0.1531 | 8 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0003a0003c0006t0003 | a0003c0004t0003g0022 a0003c0004t0003g0024 a0003c0006t0003g0108 others(6): Show |
9 | 154 | 0.0584 | 8 | c.193 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553599 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02280.hp2 HG02976.hp2 others(7): Show |
a0003a0012 | a0003c0004a0003c0006a0012c0014 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(2): Show | a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0005g0007 others(7): Show |
10 | 270 | 0.0370 | 8 | c.348 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588188 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01943.hp2 others(12): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0004a0003c0012others(2): Show | a0002c0002t0001a0003c0004t0003a0003c0004t0005others(3): Show | a0002c0002t0001g0033 a0002c0002t0001g0057 a0002c0002t0001g0094 others(12): Show |
15 | 168 | 0.0893 | 8 | c.251 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(40): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0016others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0003t0001g0186 a0002c0002t0001g0031 a0002c0002t0001g0032 others(40): Show |
43 | 120 | 0.3583 | 8 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111596205 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01975.hp1 HG02132.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0003 | a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 others(6): Show |
9 | 46 | 0.1957 | 8 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111600935 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | 259 | 0.0309 | 8 | c.-19 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1621 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92076939 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(92): Show |
a0004a0006a0008others(19): Show | a0004c0003a0006c0005a0008c0008others(26): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0020others(37): Show | a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0047 others(89): Show |
95 | 315 | 0.3016 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92078357 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(146): Show |
a0003a0004a0006others(25): Show | a0003c0026a0004c0003a0006c0005others(36): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0002others(55): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(142): Show |
149 | 353 | 0.4221 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92078359 | T | TATTTATT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02723.hp2 others(1): Show |
a0016 | a0016c0025 | a0016c0025t0026a0016c0025t0027 | a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0025t0027g0112 others(1): Show |
4 | 400 | 0.0100 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp1 others(83): Show |
a0004a0006a0008others(18): Show | a0004c0003a0006c0005a0006c0051others(25): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0020others(36): Show | a0004c0003t0001g0003 a0004c0003t0001g0047 a0004c0003t0001g0063 others(79): Show |
86 | 264 | 0.3258 | 8 | c.475 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0090 others(14): Show |
17 | 27 | 0.6296 | 8 | c.151 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105641212 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02165.hp1 HG02523.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0003g0016 others(6): Show |
9 | 198 | 0.0455 | 8 | c.862 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01952.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0170 a0001c0001t0003g0161 a0001c0001t0004g0084 others(5): Show |
8 | 173 | 0.0462 | 8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692403 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010 | a0001c0001t0002g0173 a0001c0001t0007g0116 a0001c0001t0010g0091 |
3 | 246 | 0.0122 | 8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18948.hp1 NA19088.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0017 | a0001c0001t0003g0142 a0001c0001t0003g0177 a0001c0001t0005g0184 others(1): Show |
4 | 71 | 0.0563 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02135.hp2 HG02165.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0129 a0001c0001t0002g0088 others(9): Show |
12 | 94 | 0.1277 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATGAAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01943.hp1 NA18971.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0033 a0001c0001t0003g0053 a0001c0001t0004g0039 others(3): Show |
6 | 88 | 0.0682 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733546 | C | CCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0150 a0001c0001t0005g0130 a0001c0001t0006g0182 others(5): Show |
8 | 250 | 0.0320 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0129 a0001c0001t0002g0033 a0001c0001t0002g0085 others(15): Show |
18 | 41 | 0.4390 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105759484 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG02015.hp2 others(11): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0243 a0001c0001t0002g0082 others(11): Show |
14 | 40 | 0.3500 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790606 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03579.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0142 a0001c0001t0004g0137 a0001c0001t0007g0024 others(2): Show |
5 | 133 | 0.0376 | 8 | c.251 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01069.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0119 others(60): Show |
63 | 78 | 0.8077 | 8 | c.251 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01978.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0006 a0001c0001t0004g0135 a0001c0001t0007g0001 others(9): Show |
12 | 104 | 0.1154 | 8 | c.250 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482862 | G | GGGGGGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(11): Show |
54 | 296 | 0.1824 | 8 | c.-10 others(19): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1042 | chr1 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02572.hp2 HG02647.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0006a0002c0002t0002a0002c0002t0014others(4): Show | a0001c0001t0006g0252 a0001c0001t0006g0267 a0002c0002t0002g0260 others(13): Show |
16 | 81 | 0.1975 | 8 | c.499 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63982623 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0041a0002c0002t0008others(7): Show | a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0092 others(25): Show |
29 | 52 | 0.5577 | 8 | c.101 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63993275 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG02486.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0029a0002c0002t0030others(1): Show | a0002c0002t0008g0016 a0002c0002t0008g0074 a0002c0002t0008g0075 others(3): Show |
6 | 169 | 0.0355 | 8 | c.168 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91347212 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01071.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 others(32): Show |
35 | 96 | 0.3646 | 8 | c.418 others(25): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25843181 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01255.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 others(3): Show |
6 | 337 | 0.0178 | 8 | c.79- others(23): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25843183 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0064 others(4): Show |
7 | 296 | 0.0236 | 8 | c.79- others(23): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUP1_chr2_74521652_74534706 | 74521768 | T | TCTCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG03209.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0004c0005t0001g0012 |
6 | 385 | 0.0156 | 8 | c.*50 others(19): Show |
AUP1 | ENSG00000115307.17 | transcript | ENST00000377526.4 | protein_coding | 4883 | chr2 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8208593 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(14): Show |
65 | 303 | 0.2145 | 8 | c.49- others(21): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8208632 | A | ATAAATAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 3 | 351 | 0.0085 | 8 | c.49- others(21): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01243.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0016 a0001c0001t0002g0003 a0001c0001t0002g0005 others(9): Show |
53 | 139 | 0.3813 | 8 | c.*41 others(19): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69600053 | G | GCTGTCTG others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(2): Show |
5 | 68 | 0.0735 | 8 | c.309 others(23): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69614314 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0003g0068 others(9): Show |
12 | 45 | 0.2667 | 8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69668073 | G | GTGTATAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(46): Show |
49 | 76 | 0.6447 | 8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69670555 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0006a0001c0004t0012a0001c0004t0013others(1): Show | a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0004t0013g0024 others(1): Show |
4 | 10 | 0.4000 | 8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69747784 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0005g0020 others(6): Show |
9 | 26 | 0.3462 | 8 | c.309 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0032 a0001c0001t0005g0028 |
2 | 20 | 0.1000 | 8 | c.310 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |