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 | 16557326 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0053a0002c0002a0003c0003others(3): Show | a0001c0053t0004a0002c0002t0002a0002c0002t0009others(4): Show | a0001c0053t0004g0065 a0002c0002t0002g0090 a0002c0002t0009g0094 others(5): Show |
8 | 182 | 0.0440 | -3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16558300 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(92): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0011a0001c0027others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(58): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0103 others(92): Show |
95 | 182 | 0.5220 | -3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16566858 | AAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(147): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0011a0001c0027others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(90): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0103 others(147): Show |
150 | 182 | 0.8242 | -3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16570451 | CAAG | C | intron_variant | MODIFIER | HG01261.hp2 HG02809.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0071 a0002c0002t0003g0061 |
2 | 182 | 0.0110 | -3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16577523 | CAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01255.hp2 others(26): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0028a0001c0029others(16): Show | a0001c0001t0020a0001c0028t0015a0001c0029t0048others(22): Show | a0001c0001t0020g0002 a0001c0028t0015g0017 a0001c0029t0048g0031 others(26): Show |
29 | 182 | 0.1593 | -3 | c.-36 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16589360 | TAAC | T | intron_variant | MODIFIER | HG00438.hp1 HG01361.hp1 NA18993.hp1 others(1): Show |
a0001a0004a0021 | a0001c0001a0001c0029a0004c0015others(1): Show | a0001c0001t0001a0001c0029t0039a0004c0015t0001others(1): Show | a0001c0001t0001g0178 a0001c0029t0039g0041 a0004c0015t0001g0157 others(1): Show |
4 | 182 | 0.0220 | -3 | c.-48 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16611849 | ATTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0005a0006a0007others(4): Show | a0005c0008a0005c0046a0006c0006others(5): Show | a0005c0008t0040a0005c0046t0001a0006c0006t0003others(6): Show | a0005c0008t0040g0154 a0005c0046t0001g0012 a0006c0006t0003g0166 others(6): Show |
9 | 182 | 0.0495 | -3 | c.-48 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16635870 | GCGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(60): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0011a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(43): Show | a0001c0001t0001g0037 a0001c0001t0001g0083 a0001c0001t0001g0108 others(60): Show |
63 | 182 | 0.3462 | -3 | c.-48 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16639624 | TTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(32): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0029a0002c0002others(19): Show | a0001c0001t0001a0001c0029t0039a0002c0002t0002others(24): Show | a0001c0001t0001g0037 a0001c0001t0001g0159 a0001c0029t0039g0041 others(32): Show |
35 | 182 | 0.1923 | -3 | c.-48 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16655482 | GAAC | G | intron_variant | MODIFIER | HG00438.hp1 HG02886.hp2 NA20752.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0015 | a0001c0001t0002a0002c0002t0003a0004c0015t0001 | a0001c0001t0002g0076 a0002c0002t0003g0007 a0004c0015t0001g0157 |
3 | 182 | 0.0165 | -3 | c.-48 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16671306 | TTTC | T | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0004others(9): Show | a0001c0001t0011a0001c0001t0020a0002c0002t0041others(12): Show | a0001c0001t0011g0131 a0001c0001t0020g0002 a0002c0002t0041g0079 others(12): Show |
15 | 182 | 0.0824 | -3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16698540 | TAAG | T | intron_variant | MODIFIER | HG00408.hp2 HG03492.hp1 NA18946.hp2 |
a0001a0002a0021 | a0001c0001a0002c0004a0021c0034 | a0001c0001t0029a0002c0004t0001a0021c0034t0002 | a0001c0001t0029g0145 a0002c0004t0001g0073 a0021c0034t0002g0124 |
3 | 182 | 0.0165 | -3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16698650 | TAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01169.hp2 others(52): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0011a0001c0027others(32): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0044others(43): Show | a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0158 others(52): Show |
55 | 182 | 0.3022 | -3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16761484 | TCTC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01074.hp2 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0053a0002c0002others(5): Show | a0001c0001t0002a0001c0053t0004a0002c0002t0008others(5): Show | a0001c0001t0002g0020 a0001c0053t0004g0065 a0002c0002t0008g0063 others(5): Show |
8 | 182 | 0.0440 | -3 | c.-91 others(12): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 25 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCC | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0054 others(2): Show |
8 | 382 | 0.0209 | -3 | c.-32 others(12): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | GCCC | G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02717.hp1 others(12): Show |
a0001a0016 | a0001c0001a0001c0009a0016c0036 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0085 others(7): Show |
15 | 382 | 0.0393 | -3 | c.-32 others(12): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28841498 | GCCT | G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02630.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 5 | 382 | 0.0131 | -3 | c.*52 others(14): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 4267 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111465767 | CAAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(25): Show |
a0003a0005a0012 | a0003c0004a0005c0031a0012c0015 | a0003c0004t0003a0003c0004t0005a0005c0031t0005others(1): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(25): Show |
28 | 298 | 0.0940 | -3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111467307 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
a0002a0004a0005 | a0002c0002a0004c0009a0005c0026 | a0002c0002t0001a0002c0002t0003a0004c0009t0001others(1): Show | a0002c0002t0001g0006 a0002c0002t0001g0018 a0002c0002t0001g0063 others(6): Show |
9 | 298 | 0.0302 | -3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111470411 | GAAT | G | intron_variant | MODIFIER | NA18946.hp2 NA18950.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0161 others(2): Show |
5 | 298 | 0.0168 | -3 | c.270 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111473764 | GAAA | G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0004a0005others(6): Show | a0003c0004a0003c0006a0003c0008others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(12): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(38): Show |
41 | 298 | 0.1376 | -3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111479390 | TAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
a0003a0005a0012 | a0003c0004a0005c0031a0012c0015 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(2): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(12): Show |
15 | 298 | 0.0503 | -3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111482190 | ATTT | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0004a0003c0006others(7): Show | a0002c0002t0001a0003c0004t0003a0003c0004t0005others(10): Show | a0002c0002t0001g0016 a0002c0002t0001g0040 a0003c0004t0003g0088 others(34): Show |
37 | 298 | 0.1242 | -3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111522228 | TAAA | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(30): Show |
a0003a0004a0005others(6): Show | a0003c0004a0003c0006a0003c0008others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(12): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(30): Show |
33 | 298 | 0.1107 | -3 | c.697 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111531584 | ATAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0007others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(36): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0003g0010 others(206): Show |
209 | 298 | 0.7013 | -3 | c.572 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111562720 | CAAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
a0003a0004a0005others(6): Show | a0003c0004a0003c0006a0003c0008others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0006t0003others(11): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(35): Show |
38 | 298 | 0.1275 | -3 | c.252 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111564496 | AAAG | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 others(9): Show |
12 | 298 | 0.0403 | -3 | c.252 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111587073 | CAAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
a0003a0004a0005others(5): Show | a0003c0004a0003c0006a0003c0008others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(11): Show | a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(37): Show |
40 | 298 | 0.1342 | -3 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0002g0220 a0001c0003t0001g0142 a0001c0003t0001g0148 others(10): Show |
13 | 298 | 0.0436 | -3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592914 | CACA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
a0002a0004a0005 | a0002c0002a0004c0009a0005c0026 | a0002c0002t0001a0002c0002t0003a0004c0009t0001others(1): Show | a0002c0002t0001g0006 a0002c0002t0001g0076 a0002c0002t0001g0079 others(6): Show |
9 | 298 | 0.0302 | -3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111598949 | GGCT | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(246): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0002g0217 others(246): Show |
249 | 298 | 0.8356 | -3 | c.83_ others(8): Show |
p.Gln others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 83/3468 | 28/1155 | chr12 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92056121 | GCCT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(136): Show |
a0003a0004a0006others(26): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(82): Show | a0003c0003t0002g0036 a0003c0003t0002g0058 a0003c0003t0002g0061 others(133): Show |
139 | 402 | 0.3458 | -3 | c.*81 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 2430 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92060267 | TATA | T | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0005a0012 | a0005c0006a0012c0016 | a0005c0006t0028a0012c0016t0029 | a0005c0006t0028g0005 a0005c0006t0028g0194 a0012c0016t0029g0012 others(1): Show |
5 | 402 | 0.0124 | -3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4050 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92066466 | TTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(137): Show |
a0003a0004a0006others(26): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(83): Show | a0003c0003t0002g0036 a0003c0003t0002g0058 a0003c0003t0002g0061 others(134): Show |
140 | 402 | 0.3483 | -3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92066601 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(126): Show |
a0003a0006a0008others(24): Show | a0003c0003a0006c0005a0006c0051others(35): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(74): Show | a0003c0003t0002g0036 a0003c0003t0002g0061 a0003c0003t0002g0062 others(123): Show |
129 | 402 | 0.3209 | -3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92069842 | AGTC | A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(5): Show |
a0004a0016 | a0004c0026a0016c0025 | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(5): Show | a0004c0026t0054g0017 a0004c0026t0055g0018 a0004c0026t0056g0016 others(5): Show |
8 | 402 | 0.0199 | -3 | c.991 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92072694 | TAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01069.hp1 others(39): Show |
a0006a0007a0008others(11): Show | a0006c0052a0007c0010a0008c0008others(12): Show | a0006c0052t0014a0007c0010t0006a0007c0010t0019others(29): Show | a0006c0052t0014g0112 a0007c0010t0006g0377 a0007c0010t0006g0381 others(38): Show |
42 | 402 | 0.1045 | -3 | c.873 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92074012 | CAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG02257.hp2 others(18): Show |
a0003a0004a0008others(8): Show | a0003c0003a0004c0026a0008c0008others(9): Show | a0003c0003t0034a0003c0003t0074a0004c0026t0057others(14): Show | a0003c0003t0034g0085 a0003c0003t0074g0364 a0004c0026t0057g0386 others(18): Show |
21 | 402 | 0.0522 | -3 | c.873 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01167.hp1 others(30): Show |
a0007a0010a0012others(7): Show | a0007c0010a0010c0011a0012c0016others(8): Show | a0007c0010t0006a0007c0010t0019a0007c0010t0024others(23): Show | a0007c0010t0006g0381 a0007c0010t0019g0151 a0007c0010t0024g0124 others(29): Show |
33 | 402 | 0.0821 | -3 | c.873 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92081365 | CAGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(150): Show |
a0003a0004a0006others(26): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(88): Show | a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(146): Show |
153 | 402 | 0.3806 | -3 | c.776 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 8/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92082649 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(142): Show |
a0003a0004a0006others(25): Show | a0003c0003a0004c0026a0006c0005others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(82): Show | a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(138): Show |
145 | 402 | 0.3607 | -3 | c.609 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92086008 | AAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(6): Show |
a0014a0020a0025others(2): Show | a0014c0019a0020c0022a0025c0035others(2): Show | a0014c0019t0013a0014c0019t0031a0020c0022t0013others(4): Show | a0014c0019t0013g0156 a0014c0019t0013g0157 a0014c0019t0013g0159 others(6): Show |
9 | 402 | 0.0224 | -3 | c.475 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92086834 | ACTG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(7): Show |
a0006a0009a0011others(2): Show | a0006c0052a0009c0037a0011c0057others(2): Show | a0006c0052t0014a0009c0037t0014a0011c0057t0078others(5): Show | a0006c0052t0014g0112 a0009c0037t0014g0111 a0009c0037t0014g0114 others(7): Show |
10 | 402 | 0.0249 | -3 | c.475 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92089295 | AAAC | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(7): Show |
a0006a0009a0011others(2): Show | a0006c0052a0009c0037a0011c0057others(2): Show | a0006c0052t0014a0009c0037t0014a0011c0057t0078others(5): Show | a0006c0052t0014g0112 a0009c0037t0014g0111 a0009c0037t0014g0114 others(7): Show |
10 | 402 | 0.0249 | -3 | c.388 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92090044 | CTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(146): Show |
a0003a0006a0008others(25): Show | a0003c0003a0006c0005a0006c0051others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(84): Show | a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(142): Show |
149 | 402 | 0.3707 | -3 | c.388 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92093944 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(139): Show |
a0003a0006a0008others(25): Show | a0003c0003a0006c0005a0006c0051others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(81): Show | a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0077 others(135): Show |
142 | 402 | 0.3532 | -3 | c.235 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92103152 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(110): Show |
a0002a0003a0004others(17): Show | a0002c0002a0002c0007a0003c0003others(24): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0089others(54): Show | a0002c0002t0003g0008 a0002c0002t0003g0351 a0002c0002t0003g0352 others(107): Show |
113 | 402 | 0.2811 | -3 | c.24+ others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92104922 | CAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01167.hp1 others(19): Show |
a0002a0007a0010others(7): Show | a0002c0002a0007c0010a0007c0017others(9): Show | a0002c0002t0089a0007c0010t0006a0007c0017t0003others(15): Show | a0002c0002t0089g0382 a0007c0010t0006g0377 a0007c0010t0006g0381 others(18): Show |
22 | 402 | 0.0547 | -3 | c.24+ others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92107710 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(57): Show |
a0002a0003a0004others(15): Show | a0002c0002a0003c0003a0004c0004others(18): Show | a0002c0002t0089a0003c0003t0074a0004c0004t0005others(34): Show | a0002c0002t0089g0382 a0003c0003t0074g0364 a0004c0004t0005g0296 others(56): Show |
60 | 402 | 0.1493 | -3 | c.-11 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1129 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | CAAA | C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02015.hp1 HG02015.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0033 a0001c0001t0005g0126 a0001c0001t0005g0159 others(7): Show |
10 | 252 | 0.0397 | -3 | c.*35 others(14): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar |