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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 |
a0003a0010 | a0003c0005a0010c0015 | a0003c0005t0003a0010c0015t0003 | a0003c0005t0003g0137 a0010c0015t0003g0019 |
2 | 147 | 0.0136 | 12 | c.193 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | AAAATTTT others(5): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18952.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0237 a0001c0001t0004g0246 a0001c0001t0004g0247 others(1): Show |
4 | 57 | 0.0702 | 12 | c.348 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | AAATTTTT others(5): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03704.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0271 others(1): Show |
4 | 57 | 0.0702 | 12 | c.348 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111584377 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 a0001c0001t0006g0267 a0001c0001t0006g0279 |
3 | 22 | 0.1364 | 12 | c.251 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588188 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(17): Show |
a0003a0005a0006others(2): Show | a0003c0004a0003c0005a0003c0006others(4): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(6): Show | a0003c0004t0003g0021 a0003c0004t0005g0020 a0003c0004t0008g0215 others(17): Show |
20 | 173 | 0.1156 | 12 | c.251 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111590688 | A | AAAAAAAA others(5): Show |
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 | 12 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02717.hp1 others(3): Show |
a0003a0006 | a0003c0004a0006c0009 | a0003c0004t0003a0003c0004t0005a0006c0009t0003 | a0003c0004t0003g0012 a0003c0004t0003g0021 a0003c0004t0005g0011 others(3): Show |
6 | 83 | 0.0723 | 12 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111596205 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18951.hp2 NA18955.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(1): Show |
4 | 41 | 0.0976 | 12 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111598949 | G | GGCTGCGG others(5): Show |
conservative_inframe_insertion | MODERATE | NA19056.hp2 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0124 | 1 | 41 | 0.0244 | 12 | c.85_ others(17): Show |
p.Gln others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | TogoVar | |||
ATXN2_chr12_111447214_111604315 | 111598949 | G | GGCTGCGG others(5): Show |
conservative_inframe_insertion | MODERATE | NA19074.hp2 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0123 | 1 | 41 | 0.0244 | 12 | c.85_ others(17): Show |
p.Gln others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | TogoVar | |||
ATXN2_chr12_111447214_111604315 | 111598949 | G | GGCTGCTG others(5): Show |
conservative_inframe_insertion | MODERATE | HG02965.hp2 | a0005 | a0005c0023 | a0005c0023t0005 | a0005c0023t0005g0122 | 1 | 41 | 0.0244 | 12 | c.74_ others(17): Show |
p.Gln others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | TogoVar | |||
ATXN2_chr12_111447214_111604315 | 111598963 | C | CTGCTGCT others(5): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 | a0005 | a0005c0021 | a0005c0021t0001 | a0005c0021t0001g0120 | 1 | 296 | 0.0034 | 12 | c.71_ others(17): Show |
p.Gln others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 352/4347 | 71/3468 | 24/1155 | chr12 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92054321 | A | ATCCTAGA others(5): Show |
downstream_gene_variant | MODIFIER | NA19059.hp2 | a0003 | a0003c0004 | a0003c0004t0074 | a0003c0004t0074g0385 | 1 | 400 | 0.0025 | 12 | c.*99 others(23): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 4230 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(5): Show |
conservative_inframe_insertion | MODERATE | HG01261.hp1 NA19240.hp1 |
a0034a0043 | a0034c0064a0043c0058 | a0034c0064t0004a0043c0058t0041 | a0034c0064t0004g0338 a0043c0058t0041g0176 |
2 | 103 | 0.0194 | 12 | c.904 others(19): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0003 | a0003c0004 | a0003c0004t0074 | a0003c0004t0074g0385 | 1 | 179 | 0.0056 | 12 | c.475 others(29): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0002g0205 a0001c0001t0002g0222 a0001c0001t0003g0056 others(5): Show |
8 | 18 | 0.4444 | 12 | c.151 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662027 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0121 | 1 | 105 | 0.0095 | 12 | c.578 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03579.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0015a0001c0001t0036a0007c0010t0027 | a0001c0001t0015g0113 a0001c0001t0036g0190 a0007c0010t0027g0204 |
3 | 192 | 0.0156 | 12 | c.578 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105671104 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02071.hp2 HG02523.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0057 a0001c0001t0002g0017 a0001c0001t0002g0102 others(8): Show |
11 | 64 | 0.1719 | 12 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02965.hp2 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0217 a0001c0001t0001g0218 others(3): Show |
6 | 171 | 0.0351 | 12 | c.356 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 132 | 0.0076 | 12 | c.356 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0066 | 1 | 132 | 0.0076 | 12 | c.356 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0032 | 1 | 16 | 0.0625 | 12 | c.356 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 68 | 0.0147 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02071.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0147 others(16): Show |
19 | 86 | 0.2209 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0027 a0001c0001t0008g0094 |
2 | 69 | 0.0290 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0127 | 1 | 171 | 0.0058 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0219 a0001c0001t0010g0091 |
2 | 172 | 0.0116 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATAAAT others(5): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18995.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0009a0001c0006t0002 | a0001c0001t0007g0116 a0001c0001t0009g0054 a0001c0006t0002g0112 |
3 | 85 | 0.0353 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATGAAT others(5): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG02148.hp1 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0009a0001c0001t0014a0005c0011t0001 | a0001c0001t0009g0097 a0001c0001t0014g0175 a0005c0011t0001g0092 |
3 | 85 | 0.0353 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731761 | A | AAGAAAAG others(5): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0018 | 1 | 250 | 0.0040 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733596 | A | ACCCATCC others(5): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 249 | 0.0040 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733601 | T | TCCATCCA others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 249 | 0.0040 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733617 | T | TTCATCCA others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0044 | a0001c0001t0010g0093 a0001c0001t0044g0148 |
2 | 195 | 0.0103 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0051 | a0001c0001t0002g0017 a0001c0001t0002g0205 a0001c0001t0002g0222 others(2): Show |
5 | 28 | 0.1786 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATAA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00741.hp1 others(27): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0050 others(27): Show |
30 | 49 | 0.6122 | 12 | c.355 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790606 | T | TTATCTAT others(5): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025 | a0001c0001t0007g0022 a0001c0001t0025g0072 |
2 | 130 | 0.0154 | 12 | c.251 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ACTATCTA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0070 others(59): Show |
62 | 77 | 0.8052 | 12 | c.251 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482861 | C | CGGGGGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 202 | 0.0050 | 12 | c.-10 others(23): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1043 | chr1 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482861 | C | CGGGGGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
4 | 205 | 0.0195 | 12 | c.-10 others(23): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1043 | chr1 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482861 | C | CGGGGGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 202 | 0.0050 | 12 | c.-10 others(23): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1043 | chr1 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482862 | G | GGGGGGGG others(5): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG04184.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 3 | 245 | 0.0122 | 12 | c.-10 others(23): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1042 | chr1 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01169.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0059 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0059g0000 |
16 | 17 | 0.9412 | 12 | c.-14 others(23): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | NA18960.hp1 | a0021 | a0021c0021 | a0021c0021t0003 | a0021c0021t0003g0186 | 1 | 207 | 0.0048 | 12 | c.107 others(19): 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 | 63912714 | A | AGCAGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | NA18954.hp1 | a0020 | a0020c0022 | a0020c0022t0003 | a0020c0022t0003g0165 | 1 | 288 | 0.0035 | 12 | c.118 others(19): Show |
p.Gln others(23): 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 | 63952835 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0292 | 1 | 66 | 0.0152 | 12 | c.499 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63964073 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03540.hp2 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0010a0007c0009t0011a0007c0009t0045 | a0007c0009t0010g0151 a0007c0009t0011g0156 a0007c0009t0011g0157 others(1): Show |
4 | 72 | 0.0556 | 12 | c.499 others(31): 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(5): Show |
intron_variant | MODIFIER | HG03098.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0030 | a0001c0001t0006g0267 a0002c0002t0030g0077 |
2 | 25 | 0.0800 | 12 | c.101 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91249298 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 354 | 0.0028 | 12 | c.656 others(31): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91347212 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00639.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 others(29): Show |
33 | 94 | 0.3511 | 12 | c.418 others(29): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar |