Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 6311 |
|---|---|
| ensemblid | ENSG00000204842.18 |
| hgncid | 10555 |
| symbol | ATXN2 |
| name | ataxin 2 |
| refseq_nuc | NM_001372574.1 |
| refseq_prot | NP_001359503.1 |
| ensembl_nuc | ENST00000673436.1 |
| ensembl_prot | ENSP00000500925.1 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 111452214 |
| end | 111599315 |
| strand | - |
| ver | v1.2 |
| region | chr12:111452214-111599315 |
| region5000 | chr12:111447214-111604315 |
| regionname0 | ATXN2_chr12_111452214_111599315 |
| regionname5000 | ATXN2_chr12_111447214_111604315 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1154 | 158 | 31 | 23 | 74 | 4 | 25 | 54 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002 | 0/0 | 1154 | 76 | 7 | 11 | 55 | 0 | 3 | 45 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003 | 1/0 | 1155 | 44 | 33 | 5 | 3 | 0 | 2 | 2 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0004 | 0/0 | 1151 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0005 | 0/0 | 1152 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0006 | 0/0 | 1156 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0007 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0008 | 0/0 | 1152 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0009 | 0/0 | 1154 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0010 | 0/0 | 1154 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0011 | 0/0 | 1154 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0012 | 0/0 | 1155 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0013 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0014 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0015 | 0/0 | 1159 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0016 | 0/0 | 1159 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0017 | 0/0 | 1159 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0018 | 0/0 | 1159 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0019 | 0/0 | 1161 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0020 | 0/0 | 1163 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 3465 | 84 | 14 | 16 | 32 | 2 | 19 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0002 | 0/0 | 3465 | 75 | 7 | 11 | 54 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0003 | 0/0 | 3465 | 68 | 17 | 7 | 37 | 1 | 6 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0004 | 0/0 | 3468 | 27 | 25 | 2 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0005 | 0/0 | 3468 | 7 | 2 | 2 | 2 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0006 | 0/0 | 3468 | 4 | 2 | 0 | 1 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0007 | 0/0 | 3468 | 3 | 3 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0008 | 0/0 | 3465 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0009 | 0/0 | 3459 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0010 | 0/0 | 3471 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0011 | 1/0 | 3468 | 2 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0012 | 0/0 | 3465 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0013 | 0/0 | 3456 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0014 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0015 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0016 | 0/0 | 3465 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0017 | 0/0 | 3465 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0018 | 0/0 | 3465 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0019 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0020 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0021 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0022 | 0/0 | 3468 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0023 | 0/0 | 3459 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0024 | 0/0 | 3480 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0025 | 0/0 | 3492 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0026 | 0/0 | 3465 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0027 | 0/0 | 3486 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0028 | 0/0 | 3480 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0029 | 0/0 | 3480 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| c0030 | 0/0 | 3480 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 879 | 156 | 31 | 15 | 98 | 2 | 10 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0002 | 0/1 | 880 | 62 | 8 | 16 | 23 | 2 | 12 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0003 | 1/0 | 880 | 48 | 31 | 10 | 5 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0004 | 0/0 | 879 | 14 | 0 | 1 | 9 | 0 | 4 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0005 | 0/0 | 881 | 7 | 7 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0006 | 0/0 | 879 | 7 | 4 | 0 | 0 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0007 | 0/0 | 879 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| t0008 | 0/0 | 880 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0123 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0270 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0274 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0277 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3465 | 84 | 14 | 16 | 32 | 2 | 19 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0003 | 0/0 | 3465 | 68 | 17 | 7 | 37 | 1 | 6 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0008 | 0/0 | 3465 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0012 | 0/0 | 3465 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0026 | 0/0 | 3465 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002c0002 | 0/0 | 3465 | 75 | 7 | 11 | 54 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002c0016 | 0/0 | 3465 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0004 | 0/0 | 3468 | 27 | 25 | 2 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0005 | 0/0 | 3468 | 7 | 2 | 2 | 2 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0006 | 0/0 | 3468 | 4 | 2 | 0 | 1 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0007 | 0/0 | 3468 | 3 | 3 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0011 | 1/0 | 3468 | 2 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0014 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0004c0013 | 0/0 | 3456 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0005c0009 | 0/0 | 3459 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0006c0010 | 0/0 | 3471 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0007c0015 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0008c0023 | 0/0 | 3459 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0009c0017 | 0/0 | 3465 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0010c0018 | 0/0 | 3465 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0011c0019 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0012c0022 | 0/0 | 3468 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0013c0021 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0014c0020 | 0/0 | 3468 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0015c0030 | 0/0 | 3480 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0016c0029 | 0/0 | 3480 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0017c0024 | 0/0 | 3480 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0018c0028 | 0/0 | 3480 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0019c0027 | 0/0 | 3486 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0020c0025 | 0/0 | 3492 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4343 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0001t0002 | 0/1 | 4344 | 60 | 7 | 15 | 23 | 2 | 12 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0001t0003 | 0/0 | 4344 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0001t0004 | 0/0 | 4343 | 14 | 0 | 1 | 9 | 0 | 4 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0001t0006 | 0/0 | 4343 | 7 | 4 | 0 | 0 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0003t0001 | 0/0 | 4343 | 60 | 17 | 3 | 34 | 1 | 5 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0003t0003 | 0/0 | 4344 | 8 | 0 | 4 | 3 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0008t0007 | 0/0 | 4343 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0012t0001 | 0/0 | 4343 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0001c0026t0001 | 0/0 | 4343 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002c0002t0001 | 0/0 | 4343 | 72 | 6 | 10 | 53 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002c0002t0003 | 0/0 | 4344 | 3 | 1 | 1 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0002c0016t0001 | 0/0 | 4343 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0004t0003 | 0/0 | 4347 | 22 | 20 | 2 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0004t0005 | 0/0 | 4348 | 4 | 4 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0004t0008 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0005t0001 | 0/0 | 4346 | 5 | 2 | 1 | 1 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0005t0003 | 0/0 | 4347 | 2 | 0 | 1 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0006t0001 | 0/0 | 4346 | 3 | 1 | 0 | 1 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0006t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0007t0003 | 0/0 | 4347 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0007t0005 | 0/0 | 4348 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0011t0001 | 0/0 | 4346 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0011t0003 | 1/0 | 4347 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0003c0014t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0004c0013t0001 | 0/0 | 4334 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0005c0009t0001 | 0/0 | 4337 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0006c0010t0003 | 0/0 | 4350 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0007c0015t0005 | 0/0 | 4348 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0008c0023t0003 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0009c0017t0001 | 0/0 | 4343 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0010c0018t0002 | 0/0 | 4344 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0011c0019t0002 | 0/0 | 4344 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0012c0022t0003 | 0/0 | 4347 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0013c0021t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0014c0020t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0015c0030t0001 | 0/0 | 4358 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0016c0029t0001 | 0/0 | 4358 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0017c0024t0001 | 0/0 | 4358 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0018c0028t0005 | 0/0 | 4360 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0019c0027t0003 | 0/0 | 4365 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| a0020c0025t0001 | 0/0 | 4370 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | copy fasta | chr12 | 111447214 | 111604315 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0270 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0277 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0274 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0008t0007g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0008t0007g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0008t0007g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0012t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0012t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0026t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0016t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0008g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0007t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0007t0003g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0007t0005g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0011t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0011t0003g0123 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0014t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0004c0013t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0004c0013t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0005c0009t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0005c0009t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0006c0010t0003g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0006c0010t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0007c0015t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0008c0023t0003g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0009c0017t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0010c0018t0002g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0011c0019t0002g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0012c0022t0003g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0013c0021t0003g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0014c0020t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0015c0030t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0016c0029t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0017c0024t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0018c0028t0005g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0019c0027t0003g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0020c0025t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0026 | t0001 | g0160 | EUR | GBR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0250 | EUR | GBR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0220 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00408 | hp2 | a0003 | c0005 | t0001 | g0206 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0233 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00544 | hp2 | a0002 | c0002 | t0001 | g0052 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00597 | hp1 | a0002 | c0002 | t0001 | g0036 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00597 | hp2 | a0001 | c0003 | t0001 | g0189 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0264 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00642 | hp2 | a0003 | c0011 | t0001 | g0122 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01071 | hp1 | a0002 | c0002 | t0003 | g0033 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0269 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01081 | hp1 | a0001 | c0003 | t0001 | g0148 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01167 | hp1 | a0001 | c0003 | t0001 | g0143 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0284 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0243 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01168 | hp2 | a0003 | c0004 | t0003 | g0100 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0285 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01169 | hp2 | a0003 | c0004 | t0003 | g0099 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01243 | hp1 | a0003 | c0005 | t0001 | g0203 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01243 | hp2 | a0012 | c0022 | t0003 | g0118 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01256 | hp1 | a0002 | c0002 | t0001 | g0046 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0270 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01258 | hp1 | a0002 | c0002 | t0001 | g0044 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01258 | hp2 | a0003 | c0005 | t0003 | g0202 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0256 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01361 | hp2 | a0001 | c0003 | t0001 | g0165 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0013 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0272 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0217 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01496 | hp2 | a0001 | c0003 | t0003 | g0174 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01884 | hp1 | a0003 | c0004 | t0005 | g0086 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01884 | hp2 | a0017 | c0024 | t0001 | g0120 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01928 | hp1 | a0002 | c0002 | t0001 | g0066 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01928 | hp2 | a0010 | c0018 | t0002 | g0244 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0242 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01943 | hp2 | a0019 | c0027 | t0003 | g0207 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01952 | hp1 | a0002 | c0002 | t0001 | g0060 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01952 | hp2 | a0001 | c0003 | t0003 | g0172 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01975 | hp1 | a0002 | c0002 | t0001 | g0084 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01975 | hp2 | a0001 | c0001 | t0002 | g0218 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0045 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01993 | hp2 | a0001 | c0001 | t0004 | g0240 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0038 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02027 | hp2 | a0001 | c0003 | t0001 | g0182 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02040 | hp1 | a0009 | c0017 | t0001 | g0083 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02040 | hp2 | a0001 | c0003 | t0003 | g0152 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02055 | hp1 | a0003 | c0004 | t0005 | g0091 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02055 | hp2 | a0003 | c0004 | t0003 | g0102 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0278 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02056 | hp2 | a0001 | c0003 | t0001 | g0132 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02071 | hp1 | a0001 | c0012 | t0001 | g0153 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02071 | hp2 | a0001 | c0003 | t0001 | g0150 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02074 | hp1 | a0002 | c0002 | t0001 | g0061 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02074 | hp2 | a0001 | c0003 | t0001 | g0157 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0280 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02080 | hp2 | a0002 | c0002 | t0001 | g0049 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02129 | hp1 | a0002 | c0002 | t0001 | g0056 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02129 | hp2 | a0001 | c0003 | t0001 | g0131 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02132 | hp1 | a0001 | c0003 | t0001 | g0126 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02132 | hp2 | a0002 | c0002 | t0001 | g0016 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02135 | hp1 | a0001 | c0001 | t0004 | g0216 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02135 | hp2 | a0001 | c0003 | t0001 | g0125 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02145 | hp1 | a0003 | c0005 | t0001 | g0205 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02145 | hp2 | a0002 | c0002 | t0001 | g0076 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02148 | hp1 | a0002 | c0002 | t0001 | g0043 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0292 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02155 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02155 | hp2 | a0001 | c0003 | t0001 | g0124 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0037 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02165 | hp2 | a0001 | c0003 | t0001 | g0185 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02257 | hp1 | a0008 | c0023 | t0003 | g0119 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02257 | hp2 | a0001 | c0003 | t0001 | g0192 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0144 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0252 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0054 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02273 | hp2 | a0001 | c0003 | t0003 | g0173 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02280 | hp1 | a0003 | c0007 | t0003 | g0117 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02280 | hp2 | a0003 | c0004 | t0003 | g0101 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02293 | hp1 | a0001 | c0003 | t0003 | g0175 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0263 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02451 | hp1 | a0002 | c0002 | t0003 | g0075 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02451 | hp2 | a0011 | c0019 | t0002 | g0255 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02523 | hp1 | a0001 | c0003 | t0001 | g0135 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0251 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02572 | hp1 | a0003 | c0004 | t0003 | g0104 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0231 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02622 | hp1 | a0002 | c0002 | t0001 | g0005 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02630 | hp1 | a0003 | c0006 | t0003 | g0213 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0253 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02683 | hp1 | a0003 | c0005 | t0001 | g0204 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02683 | hp2 | a0001 | c0001 | t0006 | g0274 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02717 | hp1 | a0006 | c0010 | t0003 | g0113 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02717 | hp2 | a0001 | c0003 | t0001 | g0191 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0222 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02735 | hp2 | a0001 | c0001 | t0004 | g0239 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02738 | hp1 | a0001 | c0003 | t0001 | g0139 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0290 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02809 | hp1 | a0001 | c0003 | t0001 | g0196 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02809 | hp2 | a0003 | c0004 | t0003 | g0111 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02818 | hp1 | a0003 | c0004 | t0003 | g0096 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02818 | hp2 | a0001 | c0003 | t0001 | g0129 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02886 | hp1 | a0003 | c0004 | t0003 | g0103 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02886 | hp2 | a0001 | c0003 | t0001 | g0177 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02896 | hp1 | a0005 | c0009 | t0001 | g0002 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0258 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02897 | hp1 | a0001 | c0001 | t0003 | g0009 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02897 | hp2 | a0005 | c0009 | t0001 | g0001 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02965 | hp1 | a0001 | c0001 | t0006 | g0265 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02965 | hp2 | a0018 | c0028 | t0005 | g0208 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02970 | hp1 | a0003 | c0004 | t0003 | g0107 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02970 | hp2 | a0003 | c0006 | t0001 | g0211 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02976 | hp1 | a0013 | c0021 | t0003 | g0115 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02976 | hp2 | a0003 | c0004 | t0005 | g0087 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0238 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03017 | hp2 | a0002 | c0002 | t0001 | g0051 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0282 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03041 | hp2 | a0001 | c0003 | t0001 | g0193 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03098 | hp1 | a0001 | c0001 | t0006 | g0267 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03098 | hp2 | a0003 | c0004 | t0005 | g0109 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03130 | hp1 | a0001 | c0003 | t0001 | g0142 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03130 | hp2 | a0003 | c0007 | t0003 | g0114 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03139 | hp1 | a0001 | c0003 | t0001 | g0162 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03139 | hp2 | a0001 | c0003 | t0001 | g0167 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03195 | hp1 | a0001 | c0003 | t0001 | g0147 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0271 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03209 | hp1 | a0003 | c0004 | t0003 | g0088 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0249 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03225 | hp2 | a0006 | c0010 | t0003 | g0112 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03239 | hp1 | a0002 | c0002 | t0001 | g0032 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0230 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03453 | hp1 | a0003 | c0004 | t0003 | g0092 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03453 | hp2 | a0003 | c0004 | t0003 | g0098 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03486 | hp1 | a0001 | c0003 | t0001 | g0130 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03486 | hp2 | a0003 | c0014 | t0003 | g0003 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03490 | hp1 | a0001 | c0001 | t0006 | g0232 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03490 | hp2 | a0001 | c0003 | t0001 | g0155 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03492 | hp1 | a0001 | c0001 | t0004 | g0227 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03492 | hp2 | a0001 | c0003 | t0001 | g0156 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03516 | hp1 | a0003 | c0004 | t0003 | g0108 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03516 | hp2 | a0001 | c0003 | t0001 | g0176 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03540 | hp1 | a0014 | c0020 | t0003 | g0085 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03540 | hp2 | a0002 | c0002 | t0001 | g0081 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03579 | hp1 | a0003 | c0005 | t0001 | g0200 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03579 | hp2 | a0003 | c0004 | t0003 | g0095 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03654 | hp1 | a0001 | c0001 | t0006 | g0257 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03654 | hp2 | a0003 | c0006 | t0001 | g0214 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03669 | hp1 | a0001 | c0003 | t0003 | g0140 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0221 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0229 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0224 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03710 | hp1 | a0001 | c0001 | t0004 | g0247 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0248 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03927 | hp1 | a0001 | c0001 | t0002 | g0228 | SAS | BEB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03927 | hp2 | a0001 | c0003 | t0001 | g0141 | SAS | BEB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04115 | hp1 | a0001 | c0001 | t0004 | g0283 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04115 | hp2 | a0001 | c0003 | t0001 | g0179 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0223 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0077 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0266 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0254 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18612 | hp1 | a0001 | c0003 | t0001 | g0127 | EAS | CHB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0040 | EAS | CHB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0195 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18906 | hp2 | a0003 | c0004 | t0003 | g0094 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18941 | hp1 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18941 | hp2 | a0001 | c0001 | t0002 | g0241 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18942 | hp1 | a0004 | c0013 | t0001 | g0199 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18942 | hp2 | a0001 | c0001 | t0002 | g0225 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18943 | hp1 | a0001 | c0001 | t0004 | g0245 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0062 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18945 | hp1 | a0001 | c0003 | t0001 | g0158 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18945 | hp2 | a0002 | c0002 | t0001 | g0064 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18946 | hp1 | a0002 | c0002 | t0001 | g0020 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18946 | hp2 | a0001 | c0003 | t0001 | g0137 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18948 | hp1 | a0001 | c0001 | t0002 | g0289 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18948 | hp2 | a0002 | c0002 | t0001 | g0068 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18950 | hp1 | a0002 | c0002 | t0001 | g0069 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18950 | hp2 | a0001 | c0003 | t0001 | g0163 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18951 | hp1 | a0001 | c0003 | t0001 | g0170 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18951 | hp2 | a0002 | c0002 | t0001 | g0010 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18952 | hp2 | a0001 | c0001 | t0004 | g0293 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18959 | hp1 | a0002 | c0002 | t0001 | g0073 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0260 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18964 | hp1 | a0001 | c0003 | t0001 | g0187 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18964 | hp2 | a0002 | c0002 | t0001 | g0063 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18968 | hp1 | a0002 | c0002 | t0001 | g0015 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18968 | hp2 | a0001 | c0003 | t0001 | g0183 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18969 | hp1 | a0001 | c0003 | t0001 | g0181 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18969 | hp2 | a0002 | c0002 | t0001 | g0050 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18971 | hp1 | a0002 | c0002 | t0001 | g0047 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18971 | hp2 | a0001 | c0008 | t0007 | g0146 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18973 | hp1 | a0001 | c0001 | t0004 | g0246 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18973 | hp2 | a0001 | c0012 | t0001 | g0188 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18974 | hp1 | a0001 | c0001 | t0004 | g0226 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18974 | hp2 | a0002 | c0002 | t0001 | g0059 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0273 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18979 | hp2 | a0020 | c0025 | t0001 | g0121 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18980 | hp1 | a0002 | c0002 | t0001 | g0022 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18980 | hp2 | a0001 | c0008 | t0007 | g0184 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18981 | hp1 | a0002 | c0002 | t0001 | g0071 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18981 | hp2 | a0001 | c0003 | t0001 | g0159 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18982 | hp1 | a0001 | c0003 | t0001 | g0171 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18982 | hp2 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18983 | hp1 | a0001 | c0003 | t0001 | g0134 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18983 | hp2 | a0002 | c0002 | t0001 | g0011 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0259 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18984 | hp2 | a0002 | c0002 | t0001 | g0082 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18985 | hp1 | a0001 | c0003 | t0001 | g0166 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18985 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18986 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0275 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18989 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18989 | hp2 | a0001 | c0003 | t0001 | g0169 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18991 | hp1 | a0002 | c0002 | t0003 | g0034 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18991 | hp2 | a0004 | c0013 | t0001 | g0198 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18992 | hp1 | a0001 | c0003 | t0003 | g0154 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18992 | hp2 | a0001 | c0001 | t0004 | g0295 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18994 | hp1 | a0001 | c0001 | t0002 | g0261 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18994 | hp2 | a0002 | c0002 | t0001 | g0030 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0067 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19000 | hp2 | a0001 | c0003 | t0003 | g0190 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0236 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19004 | hp2 | a0002 | c0002 | t0001 | g0031 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19007 | hp1 | a0001 | c0001 | t0002 | g0291 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19007 | hp2 | a0002 | c0002 | t0001 | g0055 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19009 | hp1 | a0003 | c0006 | t0001 | g0212 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19009 | hp2 | a0002 | c0002 | t0001 | g0039 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0026 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19011 | hp2 | a0001 | c0001 | t0004 | g0294 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19012 | hp1 | a0002 | c0002 | t0001 | g0023 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19012 | hp2 | a0001 | c0003 | t0001 | g0136 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19030 | hp1 | a0001 | c0001 | t0006 | g0279 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19030 | hp2 | a0003 | c0007 | t0005 | g0116 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19043 | hp1 | a0001 | c0003 | t0001 | g0149 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19043 | hp2 | a0003 | c0004 | t0003 | g0106 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19056 | hp1 | a0001 | c0001 | t0002 | g0286 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19056 | hp2 | a0015 | c0030 | t0001 | g0210 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19057 | hp1 | a0001 | c0003 | t0001 | g0164 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19057 | hp2 | a0002 | c0002 | t0001 | g0065 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19058 | hp1 | a0001 | c0003 | t0001 | g0197 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19058 | hp2 | a0002 | c0002 | t0001 | g0035 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0072 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19063 | hp2 | a0001 | c0001 | t0002 | g0237 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19065 | hp1 | a0001 | c0008 | t0007 | g0145 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19065 | hp2 | a0001 | c0001 | t0004 | g0296 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0048 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19066 | hp2 | a0001 | c0003 | t0001 | g0138 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0078 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19067 | hp2 | a0001 | c0001 | t0002 | g0276 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19070 | hp1 | a0001 | c0003 | t0001 | g0161 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19070 | hp2 | a0002 | c0002 | t0001 | g0074 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0021 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19074 | hp2 | a0016 | c0029 | t0001 | g0209 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19079 | hp1 | a0002 | c0002 | t0001 | g0029 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0288 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19080 | hp1 | a0001 | c0001 | t0002 | g0287 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19080 | hp2 | a0002 | c0002 | t0001 | g0025 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19081 | hp1 | a0001 | c0003 | t0001 | g0133 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19081 | hp2 | a0002 | c0002 | t0001 | g0014 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19082 | hp1 | a0003 | c0005 | t0003 | g0201 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19082 | hp2 | a0002 | c0002 | t0001 | g0041 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19083 | hp1 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19083 | hp2 | a0001 | c0003 | t0001 | g0168 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19084 | hp1 | a0001 | c0003 | t0001 | g0186 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19084 | hp2 | a0002 | c0002 | t0001 | g0028 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0019 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0281 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19088 | hp1 | a0001 | c0003 | t0001 | g0128 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19088 | hp2 | a0002 | c0016 | t0001 | g0057 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19091 | hp1 | a0001 | c0001 | t0004 | g0297 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19091 | hp2 | a0001 | c0003 | t0001 | g0180 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0079 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19240 | hp2 | a0003 | c0004 | t0003 | g0097 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0262 | EUR | TSI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20752 | hp2 | a0001 | c0003 | t0001 | g0151 | EUR | TSI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01123 | hp1 | a0002 | c0002 | t0001 | g0053 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01123 | hp2 | a0001 | c0001 | t0002 | g0268 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02109 | hp1 | a0001 | c0003 | t0001 | g0194 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02109 | hp2 | a0003 | c0004 | t0003 | g0105 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02486 | hp1 | a0003 | c0004 | t0003 | g0089 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02486 | hp2 | a0003 | c0004 | t0003 | g0110 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02559 | hp1 | a0003 | c0004 | t0003 | g0093 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02559 | hp2 | a0002 | c0002 | t0001 | g0080 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0178 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03471 | hp2 | a0007 | c0015 | t0005 | g0004 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0298 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18955 | hp2 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0058 | AFR | USA | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20300 | hp2 | a0003 | c0004 | t0003 | g0090 | AFR | USA | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA21309 | hp1 | a0003 | c0004 | t0008 | g0215 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA21309 | hp2 | a0001 | c0001 | t0006 | g0235 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0277 | REF | REF | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| homoSapiens_grch38 | hp1 | a0003 | c0011 | t0003 | g0123 | REF | REF | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111453770
|
G | A | 1 | a0010 | 1 | HG01928.hp2 | missense_variant | MODERATE | c.3346C>T | p.Pro1116Ser | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/25 | 3627/4347 | 3346/3468 | 1116/1155 | chr12 | 111453770 | ||
| chr12:111488758
|
T | C | 1 | a0013 | 1 | HG02976.hp1 | missense_variant | MODERATE | c.1958A>G | p.Glu653Gly | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/25 | 2239/4347 | 1958/3468 | 653/1155 | chr12 | 111488758 | ||
| chr12:111509950
|
T | A | 1 | a0009 | 1 | HG02040.hp1 | missense_variant | MODERATE | c.1805A>T | p.Asn602Ile | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/25 | 2086/4347 | 1805/3468 | 602/1155 | chr12 | 111509950 | ||
| chr12:111518422
|
T | C | 1 | a0011 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.992A>G | p.Asn331Ser | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/25 | 1273/4347 | 992/3468 | 331/1155 | chr12 | 111518422 | ||
| chr12:111555908
|
C | T | 4 | a0002a0005a0009others(1): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
missense_variant | MODERATE | c.263G>A | p.Ser88Asn | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/25 | 544/4347 | 263/3468 | 88/1155 | chr12 | 111555908 | ||
| chr12:111598890
|
C | T | 1 | a0014 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.145G>A | p.Ala49Thr | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 426/4347 | 145/3468 | 49/1155 | chr12 | 111598890 | ||
| chr12:111598949
|
G | GGCTGCGG others(5): Show |
1 | a0015 | 1 | NA19056.hp2 | conservative_inframe_insertion | MODERATE | c.85_86insAGCCGCCGCA others(2): Show |
p.Gln28_Pro29insGlnP others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | ||
| chr12:111598949
|
G | GGCTGCGG others(5): Show |
1 | a0016 | 1 | NA19074.hp2 | conservative_inframe_insertion | MODERATE | c.85_86insAGCAGCCGCA others(2): Show |
p.Gln28_Pro29insGlnG others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | ||
| chr12:111598949
|
G | GGCTGCTG others(5): Show |
1 | a0018 | 1 | HG02965.hp2 | conservative_inframe_insertion | MODERATE | c.74_85dupAGCAGCAGCA others(2): Show |
p.Gln25_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | ||
| chr12:111598949
|
G | GGCTGCTG others(11): Show |
1 | a0019 | 1 | HG01943.hp2 | conservative_inframe_insertion | MODERATE | c.68_85dupAGCAGCAGCA others(8): Show |
p.Gln23_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | ||
| chr12:111598949
|
GGCT | G | 6 | a0001a0002a0003others(3): Show | 249 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(246): Show |
disruptive_inframe_deletion | MODERATE | c.83_85delAGC | p.Gln28del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 83/3468 | 28/1155 | chr12 | 111598949 | ||
| chr12:111598949
|
GGCTGCTG others(5): Show |
G | 1 | a0004 | 2 | NA18942.hp1 NA18991.hp2 |
disruptive_inframe_deletion | MODERATE | c.74_85delAGCAGCAGCA others(2): Show |
p.Gln25_Gln28del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 74/3468 | 25/1155 | chr12 | 111598949 | ||
| chr12:111598951
|
C | CTGCTGCT others(17): Show |
1 | a0020 | 1 | NA18979.hp2 | disruptive_inframe_insertion | MODERATE | c.83_84insACAGCAGCAG others(14): Show |
p.Gln21_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 364/4347 | 83/3468 | 28/1155 | chr12 | 111598951 | ||
| chr12:111598952
|
T | G | 1 | a0012 | 1 | HG01243.hp2 | missense_variant | MODERATE | c.83A>C | p.Gln28Pro | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 364/4347 | 83/3468 | 28/1155 | chr12 | 111598952 | ||
| chr12:111598963
|
C | CTGCTGCT others(5): Show |
1 | a0017 | 1 | HG01884.hp2 | disruptive_inframe_insertion | MODERATE | c.71_72insACAGCAGCAG others(2): Show |
p.Gln21_Gln24dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 352/4347 | 71/3468 | 24/1155 | chr12 | 111598963 | ||
| chr12:111598969
|
CTGCTGCT others(2): Show |
C | 2 | a0005a0008 | 3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
disruptive_inframe_deletion | MODERATE | c.57_65delACAGCAGCA | p.Gln20_Gln22del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 346/4347 | 57/3468 | 19/1155 | chr12 | 111598969 | ||
| chr12:111598981
|
C | G | 1 | a0007 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.54G>C | p.Gln18His | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 335/4347 | 54/3468 | 18/1155 | chr12 | 111598981 | ||
| chr12:111598993
|
C | CTGT | 2 | a0003a0006 | 14 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(11): Show |
disruptive_inframe_insertion | MODERATE | c.41_42insACA | p.Gln14dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 322/4347 | 41/3468 | 14/1155 | chr12 | 111598993 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111457250
|
T | C | 1 | a0001c0008 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
synonymous_variant | LOW | c.3006A>G | p.Gln1002Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/25 | 3287/4347 | 3006/3468 | 1002/1155 | chr12 | 111457250 | ||
| chr12:111470121
|
C | T | 1 | a0001c0012 | 2 | HG02071.hp1 NA18973.hp2 |
synonymous_variant | LOW | c.2829G>A | p.Thr943Thr | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/25 | 3110/4347 | 2829/3468 | 943/1155 | chr12 | 111470121 | ||
| chr12:111470741
|
T | C | 1 | a0001c0026 | 1 | HG00099.hp1 | splice_region_variant&synonymous_variant | LOW | c.2526A>G | p.Val842Val | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/25 | 2807/4347 | 2526/3468 | 842/1155 | chr12 | 111470741 | ||
| chr12:111488505
|
G | A | 1 | a0002c0016 | 1 | NA19088.hp2 | synonymous_variant | LOW | c.2211C>T | p.Asp737Asp | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/25 | 2492/4347 | 2211/3468 | 737/1155 | chr12 | 111488505 | ||
| chr12:111598975
|
C | T | 4 | a0003c0004a0003c0005a0007c0015others(1): Show | 24 | HG00408.hp2 HG01243.hp1 HG01258.hp2 others(21): Show |
synonymous_variant | LOW | c.60G>A | p.Gln20Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 341/4347 | 60/3468 | 20/1155 | chr12 | 111598975 | ||
| chr12:111598978
|
T | C | 13 | a0003c0004a0003c0005a0003c0006others(10): Show | 39 | HG00408.hp2 HG01243.hp1 HG01243.hp2 others(36): Show |
synonymous_variant | LOW | c.57A>G | p.Gln19Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 338/4347 | 57/3468 | 19/1155 | chr12 | 111598978 | ||
| chr12:111598984
|
C | T | 1 | a0005c0009 | 2 | HG02896.hp1 HG02897.hp2 |
synonymous_variant | LOW | c.51G>A | p.Gln17Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 332/4347 | 51/3468 | 17/1155 | chr12 | 111598984 | ||
| chr12:111598993
|
C | T | 13 | a0001c0001a0002c0002a0002c0016others(10): Show | 186 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(183): Show |
synonymous_variant | LOW | c.42G>A | p.Gln14Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 323/4347 | 42/3468 | 14/1155 | chr12 | 111598993 | ||
| chr12:111598996
|
C | T | 1 | a0003c0014 | 1 | HG03486.hp2 | synonymous_variant | LOW | c.39G>A | p.Gln13Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 320/4347 | 39/3468 | 13/1155 | chr12 | 111598996 | ||
| chr12:111598999
|
C | T | 1 | a0005c0009 | 2 | HG02896.hp1 HG02897.hp2 |
synonymous_variant | LOW | c.36G>A | p.Gln12Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 317/4347 | 36/3468 | 12/1155 | chr12 | 111598999 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111452342
|
T | C | 2 | a0001c0001t0004a0001c0008t0007 | 17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*470A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 470 | chr12 | 111452342 | |||||
| chr12:111452429
|
A | AT | 4 | a0003c0004t0005a0003c0007t0005a0007c0015t0005others(1): Show | 7 | HG01884.hp1 HG02055.hp1 HG02965.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*382dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 382 | chr12 | 111452429 | |||||
| chr12:111452429
|
AT | A | 19 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | 180 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(177): Show |
3_prime_UTR_variant | MODIFIER | c.*382delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 382 | chr12 | 111452429 | |||||
| chr12:111599125
|
G | A | 5 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | 83 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(80): Show |
5_prime_UTR_variant | MODIFIER | c.-91C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 91 | chr12 | 111599125 | |||||
| chr12:111599175
|
G | A | 1 | a0003c0004t0008 | 1 | NA21309.hp1 | 5_prime_UTR_variant | MODIFIER | c.-141C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 141 | chr12 | 111599175 | |||||
| chr12:111599196
|
G | C | 5 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | 83 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(80): Show |
5_prime_UTR_variant | MODIFIER | c.-162C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 162 | chr12 | 111599196 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111453239
|
C | T | 1 | a0001c0003t0001g0189 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3440-399G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453239 | ||||||
| chr12:111453544
|
C | T | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.3439+133G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453544 | ||||||
| chr12:111453584
|
C | T | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3439+93G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453584 | ||||||
| chr12:111454047
|
G | C | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3271-202C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454047 | ||||||
| chr12:111454063
|
A | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.3271-218T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454063 | ||||||
| chr12:111454195
|
A | G | 1 | a0002c0002t0001g0080 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3271-350T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454195 | ||||||
| chr12:111454489
|
T | C | 1 | a0001c0001t0002g0221 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3271-644A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454489 | ||||||
| chr12:111454684
|
C | T | 5 | a0001c0001t0002g0259a0001c0001t0002g0260a0001c0001t0002g0261others(2): Show | 5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.3271-839G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454684 | ||||||
| chr12:111454881
|
T | C | 71 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.3271-1036A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454881 | ||||||
| chr12:111455064
|
T | C | 1 | a0002c0002t0001g0077 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3270+965A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455064 | ||||||
| chr12:111455180
|
T | G | 2 | a0002c0002t0001g0048a0002c0002t0001g0050 | 2 | NA18969.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.3270+849A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455180 | ||||||
| chr12:111455187
|
T | C | 3 | a0001c0003t0001g0134a0001c0003t0001g0150a0001c0003t0001g0187 | 3 | HG02071.hp2 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.3270+842A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455187 | ||||||
| chr12:111455733
|
A | G | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.3270+296T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455733 | ||||||
| chr12:111455834
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3270+195C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455834 | ||||||
| chr12:111456268
|
C | T | 82 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(79): Show | 82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.3043-12G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456268 | ||||||
| chr12:111456374
|
C | T | 4 | a0003c0004t0005g0086a0003c0004t0005g0087a0007c0015t0005g0004others(1): Show | 4 | HG01884.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3043-118G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456374 | ||||||
| chr12:111456406
|
T | G | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.3043-150A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456406 | ||||||
| chr12:111456427
|
CA | C | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.3043-172delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456427 | ||||||
| chr12:111456483
|
G | A | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.3043-227C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456483 | ||||||
| chr12:111456516
|
C | T | 1 | a0001c0001t0006g0279 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3043-260G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456516 | ||||||
| chr12:111456848
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.3042+366G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456848 | ||||||
| chr12:111456897
|
A | C | 1 | a0006c0010t0003g0112 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3042+317T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456897 | ||||||
| chr12:111457148
|
C | T | 1 | a0003c0005t0001g0205 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3042+66G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111457148 | ||||||
| chr12:111457399
|
C | G | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2897-40G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457399 | ||||||
| chr12:111457405
|
A | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-46T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457405 | ||||||
| chr12:111457415
|
C | G | 1 | a0001c0003t0001g0124 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2897-56G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457415 | ||||||
| chr12:111457435
|
T | G | 1 | a0001c0003t0001g0124 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2897-76A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457435 | ||||||
| chr12:111457468
|
C | T | 85 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.2897-109G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457468 | ||||||
| chr12:111457794
|
T | G | 2 | a0003c0004t0003g0089a0003c0004t0005g0091 | 2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2897-435A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457794 | ||||||
| chr12:111457852
|
G | A | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2897-493C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457852 | ||||||
| chr12:111457916
|
G | A | 3 | a0001c0008t0007g0145a0001c0008t0007g0146a0001c0008t0007g0184 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.2897-557C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457916 | ||||||
| chr12:111457925
|
G | A | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2897-566C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457925 | ||||||
| chr12:111458019
|
C | T | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2897-660G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458019 | ||||||
| chr12:111458095
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-736T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458095 | ||||||
| chr12:111458166
|
G | GAGATATA others(22): Show |
2 | a0003c0004t0005g0086a0018c0028t0005g0208 | 2 | HG01884.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2897-836_2897-808d others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458166 | ||||||
| chr12:111458533
|
T | C | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2897-1174A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458533 | ||||||
| chr12:111458558
|
G | C | 4 | a0003c0004t0005g0086a0003c0004t0005g0087a0007c0015t0005g0004others(1): Show | 4 | HG01884.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2897-1199C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458558 | ||||||
| chr12:111458824
|
A | T | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2897-1465T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458824 | ||||||
| chr12:111458825
|
T | A | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2897-1466A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458825 | ||||||
| chr12:111459082
|
C | T | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2897-1723G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459082 | ||||||
| chr12:111459137
|
A | C | 3 | a0001c0008t0007g0145a0001c0008t0007g0146a0001c0008t0007g0184 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.2897-1778T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459137 | ||||||
| chr12:111459473
|
C | T | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2897-2114G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459473 | ||||||
| chr12:111459575
|
G | C | 83 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(80): Show | 83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.2897-2216C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459575 | ||||||
| chr12:111459587
|
A | G | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2897-2228T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459587 | ||||||
| chr12:111459668
|
G | A | 1 | a0001c0003t0003g0190 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2897-2309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459668 | ||||||
| chr12:111459681
|
C | T | 2 | a0001c0001t0006g0257a0003c0011t0001g0122 | 2 | HG00642.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.2897-2322G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459681 | ||||||
| chr12:111459799
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2897-2440C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459799 | ||||||
| chr12:111459858
|
C | T | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2897-2499G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459858 | ||||||
| chr12:111459951
|
A | G | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.2897-2592T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459951 | ||||||
| chr12:111459969
|
G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2897-2610C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459969 | ||||||
| chr12:111460065
|
T | A | 1 | a0001c0001t0002g0251 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2897-2706A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460065 | ||||||
| chr12:111460158
|
C | T | 1 | a0001c0001t0002g0229 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2897-2799G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460158 | ||||||
| chr12:111460311
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-2952A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460311 | ||||||
| chr12:111460338
|
T | C | 86 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(83): Show | 86 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(83): Show |
intron_variant | MODIFIER | c.2897-2979A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460338 | ||||||
| chr12:111460580
|
G | GT | 11 | a0001c0001t0002g0231a0001c0001t0002g0263a0001c0001t0004g0283others(8): Show | 11 | HG01123.hp1 HG02293.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.2897-3222dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460580 | ||||||
| chr12:111461070
|
T | C | 1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2896+3592A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461070 | ||||||
| chr12:111461472
|
A | AAAAAT | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+3185_2896+318 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461472 | ||||||
| chr12:111461514
|
A | T | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2896+3148T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461514 | ||||||
| chr12:111461516
|
T | A | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2896+3146A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461516 | ||||||
| chr12:111461598
|
C | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+3064G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461598 | ||||||
| chr12:111461684
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2978C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461684 | ||||||
| chr12:111461888
|
C | CTCCA | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2896+2770_2896+277 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461888 | ||||||
| chr12:111461926
|
GA | G | 164 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(161): Show | 164 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.2896+2735delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461926 | ||||||
| chr12:111462030
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2632T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462030 | ||||||
| chr12:111462443
|
T | C | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2896+2219A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462443 | ||||||
| chr12:111462489
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2173C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462489 | ||||||
| chr12:111462695
|
G | A | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2896+1967C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462695 | ||||||
| chr12:111462963
|
C | CAT | 8 | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0231others(5): Show | 8 | HG02572.hp2 HG02630.hp2 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.2896+1697_2896+169 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462963 | ||||||
| chr12:111462969
|
T | C | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2896+1693A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462969 | ||||||
| chr12:111462971
|
T | C | 40 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(37): Show | 40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.2896+1691A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462971 | ||||||
| chr12:111462973
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+1689A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462973 | ||||||
| chr12:111462975
|
T | C | 43 | a0001c0003t0001g0142a0003c0004t0003g0088a0003c0004t0003g0089others(40): Show | 43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.2896+1687A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | ||||||
| chr12:111462975
|
T | TAC | 54 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(51): Show | 54 | HG00099.hp1 HG00642.hp2 HG01243.hp1 others(51): Show |
intron_variant | MODIFIER | c.2896+1686_2896+168 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | ||||||
| chr12:111462975
|
T | TACAC | 23 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(20): Show | 23 | HG00597.hp2 HG01081.hp1 HG02056.hp2 others(20): Show |
intron_variant | MODIFIER | c.2896+1686_2896+168 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | ||||||
| chr12:111462977
|
T | C | 123 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0219others(120): Show | 123 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(120): Show |
intron_variant | MODIFIER | c.2896+1685A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | ||||||
| chr12:111462977
|
T | TAC | 7 | a0001c0001t0002g0221a0001c0003t0001g0162a0001c0003t0001g0165others(4): Show | 7 | HG01361.hp2 HG02040.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.2896+1683_2896+168 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | ||||||
| chr12:111462977
|
T | TACACAC | 53 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(50): Show | 53 | HG00597.hp1 HG01071.hp1 HG01123.hp1 others(50): Show |
intron_variant | MODIFIER | c.2896+1679_2896+168 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | ||||||
| chr12:111462977
|
T | TACACACA others(1): Show |
4 | a0002c0002t0001g0005a0002c0002t0001g0042a0002c0002t0001g0076others(1): Show | 4 | HG02145.hp2 HG02622.hp1 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+1677_2896+168 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | ||||||
| chr12:111462977
|
T | TATACAC | 23 | a0001c0003t0001g0133a0002c0002t0001g0010a0002c0002t0001g0011others(20): Show | 23 | HG00544.hp2 HG02132.hp2 NA18941.hp1 others(20): Show |
intron_variant | MODIFIER | c.2896+1684_2896+168 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | ||||||
| chr12:111462979
|
C | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2896+1683G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462979 | ||||||
| chr12:111462999
|
C | T | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2896+1663G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462999 | ||||||
| chr12:111463001
|
C | CACACACA others(5): Show |
1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2896+1660_2896+166 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | CACACACA others(7): Show |
6 | a0003c0004t0003g0093a0003c0004t0003g0095a0003c0004t0003g0099others(3): Show | 6 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | CACACACA others(5): Show |
12 | a0003c0004t0003g0089a0003c0004t0003g0094a0003c0004t0003g0098others(9): Show | 12 | HG01943.hp2 HG02055.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | CACACACA others(3): Show |
9 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(6): Show | 9 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | CACACATA others(1): Show |
4 | a0003c0004t0003g0110a0003c0004t0005g0086a0003c0004t0008g0215others(1): Show | 4 | HG01884.hp1 HG02486.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | CACATAT | 4 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092others(1): Show | 4 | HG03209.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463001
|
C | T | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2896+1661G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | ||||||
| chr12:111463004
|
A | G | 37 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(34): Show | 37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2896+1658T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463004 | ||||||
| chr12:111463024
|
C | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+1638G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463024 | ||||||
| chr12:111463400
|
C | A | 207 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(204): Show | 207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2896+1262G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463400 | ||||||
| chr12:111463452
|
G | A | 1 | a0020c0025t0001g0121 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2896+1210C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463452 | ||||||
| chr12:111463669
|
A | T | 1 | a0001c0003t0001g0186 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.2896+993T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463669 | ||||||
| chr12:111463753
|
G | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+909C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463753 | ||||||
| chr12:111463897
|
C | T | 2 | a0001c0003t0001g0171a0001c0003t0003g0154 | 2 | NA18982.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.2896+765G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463897 | ||||||
| chr12:111464083
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464083 | ||||||
| chr12:111464116
|
T | C | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2896+546A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464116 | ||||||
| chr12:111464247
|
G | GGT | 91 | a0001c0001t0002g0222a0001c0001t0002g0224a0001c0001t0002g0225others(88): Show | 91 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(88): Show |
intron_variant | MODIFIER | c.2896+413_2896+414d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GGTGT | 29 | a0001c0001t0002g0281a0001c0003t0001g0131a0001c0003t0001g0132others(26): Show | 29 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.2896+411_2896+414d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GGTGTGT | 55 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(52): Show | 55 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(52): Show |
intron_variant | MODIFIER | c.2896+409_2896+414d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GGTGTGTG others(1): Show |
15 | a0001c0001t0006g0267a0001c0003t0001g0151a0001c0003t0001g0183others(12): Show | 15 | HG00099.hp1 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2896+407_2896+414d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GGTGTGTG others(3): Show |
4 | a0001c0001t0006g0235a0001c0001t0006g0279a0001c0003t0001g0179others(1): Show | 4 | HG03209.hp1 HG04115.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+405_2896+414d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GGTGTGTG others(5): Show |
3 | a0001c0001t0006g0265a0003c0004t0003g0106a0003c0004t0005g0091 | 3 | HG02055.hp1 HG02965.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2896+403_2896+414d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | GTGT | 5 | a0002c0002t0001g0017a0002c0002t0001g0027a0002c0002t0001g0067others(2): Show | 5 | HG02145.hp2 HG04204.hp2 NA18985.hp2 others(2): Show |
intron_variant | MODIFIER | c.2896+414_2896+415i others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
G | T | 1 | a0002c0002t0001g0063 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2896+415C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464247
|
GGT | G | 3 | a0001c0003t0001g0143a0003c0004t0003g0110a0004c0013t0001g0199 | 3 | HG01167.hp1 HG02486.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.2896+413_2896+414d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | ||||||
| chr12:111464324
|
GGTGTGTG others(9): Show |
G | 2 | a0003c0007t0005g0116a0014c0020t0003g0085 | 2 | HG03540.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2896+322_2896+337d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464324 | ||||||
| chr12:111464324
|
GGTGTGTG others(11): Show |
G | 39 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(36): Show | 39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.2896+320_2896+337d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464324 | ||||||
| chr12:111464329
|
G | GTGTGTT | 4 | a0001c0003t0001g0148a0001c0003t0001g0176a0001c0003t0001g0177others(1): Show | 4 | HG01081.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+327_2896+332d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464329 | ||||||
| chr12:111464335
|
T | TTG | 19 | a0001c0001t0002g0217a0001c0001t0002g0229a0001c0001t0002g0231others(16): Show | 19 | HG01496.hp1 HG01952.hp2 HG01993.hp2 others(16): Show |
intron_variant | MODIFIER | c.2896+325_2896+326d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | ||||||
| chr12:111464335
|
T | TTGTG | 25 | a0001c0001t0002g0222a0001c0001t0002g0224a0001c0001t0002g0236others(22): Show | 25 | HG00597.hp1 HG02135.hp1 HG02735.hp1 others(22): Show |
intron_variant | MODIFIER | c.2896+323_2896+326d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | ||||||
| chr12:111464335
|
T | TTGTGTG | 3 | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0004g0246 | 3 | HG03195.hp2 HG04204.hp1 NA18973.hp1 |
intron_variant | MODIFIER | c.2896+321_2896+326d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | ||||||
| chr12:111464335
|
T | TTGTGTGT others(3): Show |
1 | a0001c0001t0004g0296 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.2896+317_2896+326d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | ||||||
| chr12:111464335
|
TTG | T | 14 | a0001c0001t0002g0281a0001c0003t0001g0143a0001c0003t0003g0140others(11): Show | 14 | HG00544.hp2 HG01167.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.2896+325_2896+326d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | ||||||
| chr12:111464344
|
T | G | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2896+318A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464344 | ||||||
| chr12:111464451
|
AT | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+210delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464451 | ||||||
| chr12:111464606
|
C | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+56G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464606 | ||||||
| chr12:111464786
|
G | A | 1 | a0001c0003t0003g0175 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2843-71C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111464786 | ||||||
| chr12:111465095
|
G | A | 1 | a0017c0024t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2843-380C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465095 | ||||||
| chr12:111465295
|
A | ATT | 38 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(35): Show | 38 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(35): Show |
intron_variant | MODIFIER | c.2843-582_2843-581d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465295 | ||||||
| chr12:111465295
|
AT | A | 101 | a0001c0001t0002g0242a0001c0001t0006g0265a0001c0003t0001g0124others(98): Show | 101 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(98): Show |
intron_variant | MODIFIER | c.2843-581delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465295 | ||||||
| chr12:111465358
|
A | G | 1 | a0015c0030t0001g0210 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2843-643T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465358 | ||||||
| chr12:111465498
|
G | A | 1 | a0001c0003t0001g0143 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2843-783C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465498 | ||||||
| chr12:111465541
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2843-826C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465541 | ||||||
| chr12:111465596
|
C | A | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.2843-881G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465596 | ||||||
| chr12:111465657
|
C | G | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2843-942G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465657 | ||||||
| chr12:111465767
|
C | CA | 18 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(15): Show | 18 | HG01361.hp1 HG02165.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.2843-1053dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
C | CAA | 49 | a0001c0001t0006g0257a0001c0003t0001g0128a0001c0003t0001g0132others(46): Show | 49 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.2843-1054_2843-105 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
C | CAAA | 20 | a0001c0003t0001g0125a0001c0003t0001g0126a0001c0003t0001g0127others(17): Show | 20 | HG01361.hp2 HG02071.hp1 HG02132.hp1 others(17): Show |
intron_variant | MODIFIER | c.2843-1055_2843-105 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
CAA | C | 11 | a0003c0004t0008g0215a0003c0006t0003g0213a0003c0007t0003g0114others(8): Show | 11 | HG01943.hp2 HG02257.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.2843-1054_2843-105 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
CAAA | C | 28 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(25): Show | 28 | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.2843-1055_2843-105 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
CAAAAAA | C | 6 | a0002c0002t0001g0014a0002c0002t0001g0029a0002c0002t0001g0035others(3): Show | 6 | NA18612.hp2 NA18948.hp2 NA18964.hp2 others(3): Show |
intron_variant | MODIFIER | c.2843-1058_2843-105 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465767
|
CAAAAAAA | C | 76 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(73): Show | 76 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(73): Show |
intron_variant | MODIFIER | c.2843-1059_2843-105 others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | ||||||
| chr12:111465888
|
C | CA | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1174_2843-117 others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465888 | ||||||
| chr12:111466034
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1319G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466034 | ||||||
| chr12:111466117
|
G | C | 1 | a0002c0002t0001g0028 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.2843-1402C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466117 | ||||||
| chr12:111466172
|
TA | T | 208 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0298others(205): Show | 208 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(205): Show |
intron_variant | MODIFIER | c.2843-1458delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466172 | ||||||
| chr12:111466201
|
T | A | 2 | a0001c0003t0001g0195a0002c0002t0001g0080 | 2 | HG02559.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2843-1486A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466201 | ||||||
| chr12:111466205
|
A | T | 9 | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0001g0159others(6): Show | 9 | NA18946.hp2 NA18950.hp2 NA18951.hp1 others(6): Show |
intron_variant | MODIFIER | c.2843-1490T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466205 | ||||||
| chr12:111466208
|
A | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1493T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466208 | ||||||
| chr12:111466567
|
T | A | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.2843-1852A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466567 | ||||||
| chr12:111466594
|
A | G | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2843-1879T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466594 | ||||||
| chr12:111466883
|
C | T | 1 | a0001c0001t0002g0225 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.2843-2168G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466883 | ||||||
| chr12:111466914
|
A | G | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2843-2199T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466914 | ||||||
| chr12:111467139
|
T | C | 1 | a0001c0001t0002g0223 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2843-2424A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467139 | ||||||
| chr12:111467284
|
A | G | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2843-2569T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467284 | ||||||
| chr12:111467287
|
C | A | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2843-2572G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467287 | ||||||
| chr12:111467307
|
C | CT | 61 | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0233others(58): Show | 61 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.2843-2593dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
C | CTT | 34 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0298others(31): Show | 34 | HG00597.hp2 HG01081.hp1 HG01243.hp2 others(31): Show |
intron_variant | MODIFIER | c.2843-2594_2843-259 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
C | CTTT | 17 | a0001c0003t0001g0165a0001c0003t0001g0176a0001c0003t0001g0179others(14): Show | 17 | HG01168.hp2 HG01361.hp2 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.2843-2595_2843-259 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
C | CTTTT | 13 | a0003c0004t0003g0089a0003c0004t0003g0093a0003c0004t0003g0095others(10): Show | 13 | HG01169.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.2843-2596_2843-259 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
CT | C | 46 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0225others(43): Show | 46 | HG00597.hp1 HG01928.hp1 HG01943.hp1 others(43): Show |
intron_variant | MODIFIER | c.2843-2593delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
CTT | C | 38 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(35): Show | 38 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(35): Show |
intron_variant | MODIFIER | c.2843-2594_2843-259 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
CTTT | C | 9 | a0002c0002t0001g0005a0002c0002t0001g0017a0002c0002t0001g0063others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2843-2595_2843-259 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467307
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0003t0001g0187 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.2843-2604_2843-259 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | ||||||
| chr12:111467354
|
G | A | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2843-2639C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467354 | ||||||
| chr12:111467441
|
C | T | 5 | a0001c0001t0006g0257a0001c0003t0001g0162a0001c0003t0001g0165others(2): Show | 5 | HG00099.hp1 HG00642.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.2842+2667G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467441 | ||||||
| chr12:111467975
|
T | G | 2 | a0001c0003t0001g0180a0001c0003t0001g0181 | 2 | NA18969.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2842+2133A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467975 | ||||||
| chr12:111468190
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2842+1918T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468190 | ||||||
| chr12:111468535
|
T | C | 1 | a0001c0001t0002g0249 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2842+1573A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468535 | ||||||
| chr12:111468696
|
C | CT | 6 | a0001c0001t0002g0228a0001c0001t0002g0241a0001c0001t0002g0278others(3): Show | 6 | HG02027.hp1 HG02056.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.2842+1411dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | ||||||
| chr12:111468696
|
C | CTTT | 42 | a0001c0001t0003g0009a0001c0003t0001g0124a0001c0003t0001g0131others(39): Show | 42 | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(39): Show |
intron_variant | MODIFIER | c.2842+1409_2842+141 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | ||||||
| chr12:111468696
|
C | CTTTT | 68 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0006g0257others(65): Show | 68 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.2842+1408_2842+141 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | ||||||
| chr12:111468696
|
C | CTTTTT | 10 | a0001c0003t0001g0150a0001c0003t0001g0179a0001c0003t0001g0191others(7): Show | 10 | HG00099.hp1 HG01243.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2842+1407_2842+141 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | ||||||
| chr12:111468696
|
CT | C | 66 | a0001c0001t0002g0270a0001c0001t0004g0294a0001c0001t0004g0297others(63): Show | 66 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(63): Show |
intron_variant | MODIFIER | c.2842+1411delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | ||||||
| chr12:111469136
|
A | G | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2842+972T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469136 | ||||||
| chr12:111469242
|
C | T | 1 | a0001c0001t0002g0243 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2842+866G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469242 | ||||||
| chr12:111469550
|
A | G | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2842+558T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469550 | ||||||
| chr12:111469627
|
A | AC | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.2842+480_2842+481i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469627 | ||||||
| chr12:111470411
|
GAAT | G | 5 | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0001g0161others(2): Show | 5 | NA18946.hp2 NA18950.hp2 NA19012.hp2 others(2): Show |
intron_variant | MODIFIER | c.2709+144_2709+146d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/24 | chr12 | 111470411 | ||||||
| chr12:111470421
|
T | A | 5 | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0001g0161others(2): Show | 5 | NA18946.hp2 NA18950.hp2 NA19012.hp2 others(2): Show |
intron_variant | MODIFIER | c.2709+137A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/24 | chr12 | 111470421 | ||||||
| chr12:111470878
|
C | G | 27 | a0003c0004t0003g0093a0003c0004t0003g0094a0003c0004t0003g0095others(24): Show | 27 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.2525-136G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470878 | ||||||
| chr12:111470884
|
C | T | 1 | a0004c0013t0001g0198 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-142G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470884 | ||||||
| chr12:111470885
|
T | G | 1 | a0004c0013t0001g0198 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-143A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470885 | ||||||
| chr12:111470886
|
C | A | 1 | a0004c0013t0001g0198 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-144G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470886 | ||||||
| chr12:111470924
|
T | C | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2525-182A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470924 | ||||||
| chr12:111470997
|
C | A | 3 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0003t0003g0174 | 3 | HG01081.hp2 HG01496.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.2525-255G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470997 | ||||||
| chr12:111471085
|
G | T | 2 | a0001c0001t0002g0280a0001c0001t0002g0298 | 2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.2525-343C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471085 | ||||||
| chr12:111471150
|
C | T | 1 | a0002c0002t0001g0005 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2525-408G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471150 | ||||||
| chr12:111471662
|
A | C | 1 | a0011c0019t0002g0255 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2525-920T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471662 | ||||||
| chr12:111472002
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2525-1260G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472002 | ||||||
| chr12:111472110
|
C | T | 1 | a0002c0002t0001g0055 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2525-1368G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472110 | ||||||
| chr12:111472216
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-1474C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472216 | ||||||
| chr12:111472242
|
C | T | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2525-1500G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472242 | ||||||
| chr12:111472309
|
C | A | 1 | a0019c0027t0003g0207 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2525-1567G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472309 | ||||||
| chr12:111472415
|
A | G | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.2525-1673T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472415 | ||||||
| chr12:111472511
|
C | G | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2525-1769G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472511 | ||||||
| chr12:111472604
|
G | A | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.2525-1862C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472604 | ||||||
| chr12:111472620
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-1878C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472620 | ||||||
| chr12:111472749
|
T | C | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2525-2007A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472749 | ||||||
| chr12:111472769
|
T | C | 2 | a0001c0001t0002g0254a0001c0001t0002g0266 | 2 | HG04228.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2525-2027A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472769 | ||||||
| chr12:111472786
|
C | G | 163 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(160): Show | 163 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.2525-2044G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472786 | ||||||
| chr12:111473032
|
T | C | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.2525-2290A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473032 | ||||||
| chr12:111473108
|
G | A | 207 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(204): Show | 207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2525-2366C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473108 | ||||||
| chr12:111473181
|
G | A | 1 | a0001c0003t0001g0170 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2525-2439C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473181 | ||||||
| chr12:111473282
|
T | TA | 79 | a0001c0001t0001g0008a0001c0001t0003g0009a0001c0001t0004g0283others(76): Show | 79 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(76): Show |
intron_variant | MODIFIER | c.2525-2541dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473282 | ||||||
| chr12:111473282
|
TA | T | 7 | a0001c0001t0004g0297a0001c0003t0003g0173a0002c0002t0001g0074others(4): Show | 7 | HG02273.hp2 HG02897.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.2525-2541delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473282 | ||||||
| chr12:111473283
|
A | T | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2525-2541T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473283 | ||||||
| chr12:111473301
|
C | A | 2 | a0001c0001t0002g0225a0001c0001t0002g0241 | 2 | NA18941.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.2525-2559G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473301 | ||||||
| chr12:111473306
|
A | T | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2525-2564T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473306 | ||||||
| chr12:111473481
|
T | C | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2525-2739A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473481 | ||||||
| chr12:111473764
|
GA | G | 159 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(156): Show | 159 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(156): Show |
intron_variant | MODIFIER | c.2525-3023delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473764 | ||||||
| chr12:111473764
|
GAAA | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3025_2525-302 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473764 | ||||||
| chr12:111473773
|
A | G | 13 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(10): Show | 13 | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.2525-3031T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473773 | ||||||
| chr12:111473986
|
TG | T | 15 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(12): Show | 15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2525-3245delC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473986 | ||||||
| chr12:111474134
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3392G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474134 | ||||||
| chr12:111474148
|
T | C | 3 | a0001c0003t0001g0134a0001c0003t0001g0150a0001c0003t0001g0187 | 3 | HG02071.hp2 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.2525-3406A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474148 | ||||||
| chr12:111474384
|
T | C | 80 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(77): Show | 80 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(77): Show |
intron_variant | MODIFIER | c.2525-3642A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474384 | ||||||
| chr12:111474397
|
C | CA | 163 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(160): Show | 163 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.2525-3656dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474397 | ||||||
| chr12:111474511
|
G | GGGAGAGG others(6): Show |
1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3770_2525-376 others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474511 | ||||||
| chr12:111474559
|
T | A | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3817A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474559 | ||||||
| chr12:111474604
|
T | A | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3862A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474604 | ||||||
| chr12:111474611
|
C | CA | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3870dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474611 | ||||||
| chr12:111474780
|
T | G | 71 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.2525-4038A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474780 | ||||||
| chr12:111474852
|
G | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-4110C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474852 | ||||||
| chr12:111475096
|
C | A | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-4354G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475096 | ||||||
| chr12:111475127
|
T | C | 2 | a0003c0004t0003g0090a0003c0004t0003g0092 | 2 | HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2525-4385A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475127 | ||||||
| chr12:111475277
|
G | C | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2525-4535C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475277 | ||||||
| chr12:111475344
|
C | CA | 12 | a0001c0001t0002g0290a0001c0003t0001g0131a0001c0003t0001g0191others(9): Show | 12 | HG02109.hp1 HG02129.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.2525-4603dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | ||||||
| chr12:111475344
|
C | CAA | 37 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(34): Show | 37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2525-4604_2525-460 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | ||||||
| chr12:111475344
|
CA | C | 83 | a0001c0001t0002g0220a0001c0001t0002g0237a0001c0003t0001g0129others(80): Show | 83 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.2525-4603delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | ||||||
| chr12:111475378
|
AC | A | 4 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108others(1): Show | 4 | HG02970.hp1 HG03098.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.2525-4637delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475378 | ||||||
| chr12:111475383
|
TA | T | 47 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(44): Show | 47 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(44): Show |
intron_variant | MODIFIER | c.2525-4642delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475383 | ||||||
| chr12:111475430
|
C | G | 1 | a0003c0004t0003g0095 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2525-4688G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475430 | ||||||
| chr12:111475487
|
C | CT | 9 | a0001c0001t0002g0217a0001c0001t0002g0290a0001c0003t0001g0141others(6): Show | 9 | HG01256.hp1 HG01496.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.2525-4746dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475487 | ||||||
| chr12:111475487
|
CT | C | 10 | a0001c0001t0002g0222a0001c0001t0002g0225a0001c0001t0002g0241others(7): Show | 10 | HG02559.hp1 HG02735.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.2525-4746delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475487 | ||||||
| chr12:111475489
|
T | C | 1 | a0002c0002t0001g0065 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2525-4747A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475489 | ||||||
| chr12:111475709
|
A | G | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2525-4967T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475709 | ||||||
| chr12:111475850
|
A | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5108T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475850 | ||||||
| chr12:111475995
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-5253T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475995 | ||||||
| chr12:111476052
|
A | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5310T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476052 | ||||||
| chr12:111476189
|
G | C | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2525-5447C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476189 | ||||||
| chr12:111476191
|
G | A | 1 | a0001c0003t0001g0141 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2525-5449C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476191 | ||||||
| chr12:111476345
|
G | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5603C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476345 | ||||||
| chr12:111476605
|
G | A | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2525-5863C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476605 | ||||||
| chr12:111476725
|
C | T | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2525-5983G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476725 | ||||||
| chr12:111476763
|
T | C | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2525-6021A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476763 | ||||||
| chr12:111476834
|
A | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-6092T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476834 | ||||||
| chr12:111476837
|
C | T | 27 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(24): Show | 27 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(24): Show |
intron_variant | MODIFIER | c.2525-6095G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476837 | ||||||
| chr12:111477027
|
C | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-6285G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477027 | ||||||
| chr12:111477180
|
T | TA | 154 | a0001c0001t0002g0233a0001c0001t0002g0256a0001c0001t0002g0275others(151): Show | 154 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.2525-6439dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | ||||||
| chr12:111477180
|
T | TAA | 7 | a0001c0001t0002g0286a0001c0001t0006g0257a0001c0003t0001g0139others(4): Show | 7 | HG02258.hp1 HG02738.hp1 HG03654.hp1 others(4): Show |
intron_variant | MODIFIER | c.2525-6440_2525-643 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | ||||||
| chr12:111477180
|
TA | T | 41 | a0001c0001t0002g0252a0001c0001t0002g0258a0001c0001t0002g0289others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-6439delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | ||||||
| chr12:111477399
|
G | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2525-6657C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477399 | ||||||
| chr12:111477554
|
A | G | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2525-6812T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477554 | ||||||
| chr12:111477560
|
C | T | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2525-6818G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477560 | ||||||
| chr12:111477923
|
C | G | 1 | a0001c0001t0004g0227 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2525-7181G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477923 | ||||||
| chr12:111477935
|
G | A | 1 | a0001c0003t0001g0195 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2525-7193C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477935 | ||||||
| chr12:111477965
|
C | CT | 14 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(11): Show | 14 | HG00544.hp1 HG02135.hp2 HG02683.hp2 others(11): Show |
intron_variant | MODIFIER | c.2525-7224dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477965 | ||||||
| chr12:111477965
|
C | CTT | 17 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(14): Show | 17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
intron_variant | MODIFIER | c.2525-7225_2525-722 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477965 | ||||||
| chr12:111477972
|
T | C | 2 | a0001c0001t0006g0257a0003c0011t0001g0122 | 2 | HG00642.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.2525-7230A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477972 | ||||||
| chr12:111478076
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+7189C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478076 | ||||||
| chr12:111478145
|
A | AC | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+7119dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478145 | ||||||
| chr12:111478371
|
G | A | 44 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(41): Show | 44 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(41): Show |
intron_variant | MODIFIER | c.2524+6894C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478371 | ||||||
| chr12:111478383
|
G | A | 12 | a0003c0006t0003g0213a0003c0007t0003g0114a0003c0007t0003g0117others(9): Show | 12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.2524+6882C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478383 | ||||||
| chr12:111478413
|
A | C | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2524+6852T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478413 | ||||||
| chr12:111478477
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+6788G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478477 | ||||||
| chr12:111478772
|
TGG | T | 27 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(24): Show | 27 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(24): Show |
intron_variant | MODIFIER | c.2524+6491_2524+649 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478772 | ||||||
| chr12:111478914
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+6351G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478914 | ||||||
| chr12:111478995
|
T | A | 1 | a0003c0006t0003g0213 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2524+6270A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478995 | ||||||
| chr12:111479047
|
A | T | 6 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(3): Show | 6 | HG02735.hp1 HG03017.hp1 HG03704.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+6218T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479047 | ||||||
| chr12:111479370
|
T | C | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2524+5895A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479370 | ||||||
| chr12:111479377
|
A | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5888T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479377 | ||||||
| chr12:111479390
|
T | TA | 138 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(135): Show | 138 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.2524+5874dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | ||||||
| chr12:111479390
|
T | TAA | 20 | a0001c0003t0001g0132a0001c0003t0001g0139a0001c0003t0001g0141others(17): Show | 20 | HG00597.hp1 HG00597.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.2524+5873_2524+587 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | ||||||
| chr12:111479390
|
TA | T | 6 | a0001c0001t0002g0224a0001c0001t0002g0258a0001c0001t0002g0282others(3): Show | 6 | HG02040.hp2 HG02273.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+5874delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | ||||||
| chr12:111479390
|
TAA | T | 26 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(23): Show | 26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.2524+5873_2524+587 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | ||||||
| chr12:111479390
|
TAAA | T | 15 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(12): Show | 15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2524+5872_2524+587 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | ||||||
| chr12:111479419
|
G | A | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2524+5846C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479419 | ||||||
| chr12:111479425
|
G | C | 2 | a0001c0003t0001g0138a0020c0025t0001g0121 | 2 | NA18979.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2524+5840C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479425 | ||||||
| chr12:111479755
|
C | G | 44 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(41): Show | 44 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(41): Show |
intron_variant | MODIFIER | c.2524+5510G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479755 | ||||||
| chr12:111479855
|
TA | T | 207 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0219others(204): Show | 207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2524+5409delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479855 | ||||||
| chr12:111479916
|
C | G | 3 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0253 | 3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.2524+5349G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479916 | ||||||
| chr12:111480024
|
CA | C | 6 | a0001c0003t0001g0176a0001c0003t0001g0178a0003c0004t0003g0096others(3): Show | 6 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.2524+5240delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480024 | ||||||
| chr12:111480190
|
GA | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+5074delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480190 | ||||||
| chr12:111480246
|
T | C | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5019A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480246 | ||||||
| chr12:111480247
|
C | T | 1 | a0002c0002t0001g0035 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5018G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480247 | ||||||
| chr12:111480693
|
G | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+4572C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480693 | ||||||
| chr12:111480694
|
G | A | 2 | a0001c0003t0001g0171a0001c0003t0003g0154 | 2 | NA18982.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.2524+4571C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480694 | ||||||
| chr12:111480732
|
G | A | 2 | a0005c0009t0001g0001a0005c0009t0001g0002 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2524+4533C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480732 | ||||||
| chr12:111480818
|
T | C | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2524+4447A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480818 | ||||||
| chr12:111480860
|
G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2524+4405C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480860 | ||||||
| chr12:111481262
|
C | T | 1 | a0002c0002t0001g0054 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2524+4003G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481262 | ||||||
| chr12:111481377
|
G | A | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2524+3888C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481377 | ||||||
| chr12:111481425
|
C | T | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2524+3840G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481425 | ||||||
| chr12:111481467
|
C | G | 2 | a0001c0003t0001g0192a0001c0003t0001g0193 | 2 | HG02257.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.2524+3798G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481467 | ||||||
| chr12:111481506
|
C | CA | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2524+3758dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481506 | ||||||
| chr12:111481599
|
GCAGTTCC others(4): Show |
G | 2 | a0002c0002t0001g0061a0002c0002t0001g0069 | 2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.2524+3655_2524+366 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481599 | ||||||
| chr12:111481635
|
G | T | 1 | a0001c0003t0001g0191 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2524+3630C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481635 | ||||||
| chr12:111481661
|
A | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+3604T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481661 | ||||||
| chr12:111481834
|
G | A | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+3431C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481834 | ||||||
| chr12:111482069
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+3196T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482069 | ||||||
| chr12:111482190
|
A | AT | 6 | a0001c0001t0002g0259a0001c0001t0002g0260a0001c0001t0002g0261others(3): Show | 6 | HG01071.hp2 HG03195.hp2 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+3074dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | ||||||
| chr12:111482190
|
AT | A | 105 | a0001c0001t0001g0007a0001c0001t0002g0222a0001c0001t0002g0223others(102): Show | 105 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.2524+3074delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | ||||||
| chr12:111482190
|
ATT | A | 83 | a0001c0001t0002g0238a0001c0003t0001g0129a0001c0003t0001g0130others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+3073_2524+307 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | ||||||
| chr12:111482190
|
ATTT | A | 37 | a0002c0002t0001g0015a0002c0002t0001g0040a0003c0004t0003g0088others(34): Show | 37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2524+3072_2524+307 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | ||||||
| chr12:111482311
|
C | T | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2524+2954G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482311 | ||||||
| chr12:111482364
|
G | T | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2524+2901C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482364 | ||||||
| chr12:111482416
|
G | T | 1 | a0001c0001t0002g0290 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2524+2849C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482416 | ||||||
| chr12:111482425
|
A | G | 24 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(21): Show | 24 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(21): Show |
intron_variant | MODIFIER | c.2524+2840T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482425 | ||||||
| chr12:111482491
|
A | C | 127 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(124): Show | 127 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(124): Show |
intron_variant | MODIFIER | c.2524+2774T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482491 | ||||||
| chr12:111482833
|
TA | T | 8 | a0001c0001t0002g0222a0001c0001t0002g0288a0001c0008t0007g0145others(5): Show | 8 | HG02735.hp1 NA18942.hp1 NA18971.hp2 others(5): Show |
intron_variant | MODIFIER | c.2524+2431delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482833 | ||||||
| chr12:111482879
|
T | C | 1 | a0002c0002t0001g0074 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2524+2386A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482879 | ||||||
| chr12:111483068
|
C | T | 1 | a0001c0001t0002g0276 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.2524+2197G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483068 | ||||||
| chr12:111483167
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+2098C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483167 | ||||||
| chr12:111483188
|
A | AAC | 16 | a0001c0003t0001g0127a0001c0003t0001g0132a0001c0003t0001g0136others(13): Show | 16 | HG00408.hp2 HG00642.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.2524+2075_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
A | AACAC | 3 | a0001c0003t0001g0137a0003c0004t0003g0103a0003c0006t0001g0212 | 3 | HG02886.hp1 NA18946.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.2524+2073_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACAT | A | 65 | a0001c0003t0001g0129a0001c0003t0001g0133a0001c0003t0001g0191others(62): Show | 65 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(62): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(1): Show |
A | 8 | a0001c0003t0001g0143a0001c0003t0001g0166a0002c0002t0001g0051others(5): Show | 8 | HG01167.hp1 HG01243.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(3): Show |
A | 2 | a0002c0002t0001g0027a0019c0027t0003g0207 | 2 | HG01943.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.2524+2067_2524+207 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(9): Show |
A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+2061_2524+207 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(11): Show |
A | 1 | a0001c0003t0001g0138 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2524+2059_2524+207 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(13): Show |
A | 3 | a0001c0003t0001g0180a0001c0003t0001g0181a0002c0002t0001g0074 | 3 | NA18969.hp1 NA19070.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.2524+2057_2524+207 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(15): Show |
A | 1 | a0002c0002t0001g0071 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2524+2055_2524+207 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483188
|
AACACATA others(25): Show |
A | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2524+2045_2524+207 others(36): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | ||||||
| chr12:111483190
|
CACAT | C | 33 | a0001c0003t0001g0148a0001c0003t0001g0155a0001c0003t0001g0156others(30): Show | 33 | HG01081.hp1 HG01168.hp2 HG01361.hp2 others(30): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483190 | ||||||
| chr12:111483192
|
CAT | C | 33 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(30): Show | 33 | HG00597.hp1 HG01169.hp2 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483192 | ||||||
| chr12:111483194
|
T | C | 60 | a0001c0001t0002g0229a0001c0001t0006g0257a0001c0003t0001g0127others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(57): Show |
intron_variant | MODIFIER | c.2524+2071A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483194
|
T | TAC | 10 | a0001c0001t0002g0224a0001c0001t0002g0225a0001c0001t0002g0248others(7): Show | 10 | HG01993.hp2 HG03704.hp2 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483194
|
T | TACAC | 7 | a0001c0001t0002g0221a0001c0001t0002g0228a0001c0001t0002g0261others(4): Show | 7 | HG02056.hp1 HG02965.hp1 HG03492.hp1 others(4): Show |
intron_variant | MODIFIER | c.2524+2067_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483194
|
T | TACACAC | 8 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0236others(5): Show | 8 | HG02735.hp1 HG03017.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.2524+2065_2524+207 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483194
|
T | TACACACA others(5): Show |
1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2524+2059_2524+207 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483194
|
TAC | T | 9 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0287others(6): Show | 9 | HG01081.hp2 HG01975.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | ||||||
| chr12:111483239
|
A | AC | 4 | a0001c0001t0002g0266a0001c0003t0001g0150a0002c0002t0001g0014others(1): Show | 4 | HG02071.hp2 HG04228.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.2524+2025_2524+202 others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483239 | ||||||
| chr12:111483240
|
A | C | 3 | a0001c0001t0001g0008a0001c0001t0003g0009a0003c0007t0003g0117 | 3 | HG02280.hp1 HG02622.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2524+2025T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483240 | ||||||
| chr12:111483403
|
T | C | 1 | a0001c0003t0001g0128 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2524+1862A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483403 | ||||||
| chr12:111483410
|
C | CA | 13 | a0001c0001t0002g0233a0001c0001t0002g0254a0001c0001t0002g0256others(10): Show | 13 | HG00544.hp1 HG01256.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.2524+1854dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | ||||||
| chr12:111483410
|
C | CAAA | 78 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(75): Show | 78 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.2524+1852_2524+185 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | ||||||
| chr12:111483410
|
C | CAAAA | 29 | a0001c0003t0001g0124a0001c0003t0001g0171a0001c0003t0003g0154others(26): Show | 29 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.2524+1851_2524+185 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | ||||||
| chr12:111483410
|
C | CAAAAA | 16 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(13): Show | 16 | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.2524+1850_2524+185 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | ||||||
| chr12:111483452
|
C | CT | 83 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0225others(80): Show | 83 | HG00597.hp2 HG01081.hp1 HG01123.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+1812dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | ||||||
| chr12:111483452
|
C | CTT | 18 | a0001c0001t0006g0257a0001c0003t0001g0125a0001c0003t0001g0127others(15): Show | 18 | HG00099.hp1 HG00408.hp2 HG00642.hp2 others(15): Show |
intron_variant | MODIFIER | c.2524+1811_2524+181 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | ||||||
| chr12:111483452
|
CT | C | 14 | a0001c0001t0002g0228a0001c0001t0002g0231a0001c0001t0002g0248others(11): Show | 14 | HG01167.hp2 HG02572.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.2524+1812delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | ||||||
| chr12:111483452
|
CTTTTTTT others(3): Show |
C | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2524+1803_2524+181 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | ||||||
| chr12:111483459
|
T | G | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2524+1806A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483459 | ||||||
| chr12:111483478
|
G | A | 1 | a0002c0002t0001g0065 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2524+1787C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483478 | ||||||
| chr12:111483871
|
C | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2524+1394G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483871 | ||||||
| chr12:111483884
|
T | C | 2 | a0002c0002t0001g0044a0002c0002t0001g0046 | 2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2524+1381A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483884 | ||||||
| chr12:111484063
|
C | T | 2 | a0003c0004t0005g0086a0018c0028t0005g0208 | 2 | HG01884.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2524+1202G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484063 | ||||||
| chr12:111484122
|
T | A | 85 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.2524+1143A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484122 | ||||||
| chr12:111484285
|
C | CT | 41 | a0001c0003t0001g0197a0002c0002t0001g0065a0003c0004t0003g0088others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+979dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484285 | ||||||
| chr12:111484428
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2524+837A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484428 | ||||||
| chr12:111484431
|
T | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+834A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484431 | ||||||
| chr12:111484434
|
G | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+831C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484434 | ||||||
| chr12:111484642
|
G | A | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2524+623C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484642 | ||||||
| chr12:111484688
|
G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2524+577C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484688 | ||||||
| chr12:111484695
|
C | G | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2524+570G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484695 | ||||||
| chr12:111484921
|
A | G | 1 | a0001c0003t0001g0141 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2524+344T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484921 | ||||||
| chr12:111485021
|
C | A | 1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2524+244G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485021 | ||||||
| chr12:111485182
|
C | G | 2 | a0004c0013t0001g0198a0004c0013t0001g0199 | 2 | NA18942.hp1 NA18991.hp2 |
intron_variant | MODIFIER | c.2524+83G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485182 | ||||||
| chr12:111485199
|
T | G | 2 | a0003c0004t0003g0089a0003c0004t0005g0091 | 2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2524+66A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485199 | ||||||
| chr12:111485377
|
T | C | 1 | a0001c0001t0002g0221 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2458-46A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485377 | ||||||
| chr12:111485518
|
A | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2458-187T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485518 | ||||||
| chr12:111485613
|
A | G | 71 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.2457+100T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485613 | ||||||
| chr12:111485651
|
G | A | 4 | a0001c0003t0001g0151a0001c0003t0001g0179a0001c0003t0003g0152others(1): Show | 4 | HG02040.hp2 HG03654.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.2457+62C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485651 | ||||||
| chr12:111485662
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2457+51G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485662 | ||||||
| chr12:111486288
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2305-423G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486288 | ||||||
| chr12:111486372
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2304+389A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486372 | ||||||
| chr12:111486420
|
C | T | 1 | a0001c0003t0001g0139 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2304+341G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486420 | ||||||
| chr12:111486563
|
T | C | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2304+198A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486563 | ||||||
| chr12:111486618
|
A | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2304+143T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486618 | ||||||
| chr12:111486711
|
A | T | 1 | a0001c0003t0001g0149 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2304+50T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486711 | ||||||
| chr12:111486868
|
G | A | 1 | a0002c0002t0001g0042 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2241-44C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111486868 | ||||||
| chr12:111486887
|
T | C | 1 | a0001c0003t0001g0169 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2241-63A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111486887 | ||||||
| chr12:111487088
|
T | A | 2 | a0001c0003t0001g0142a0003c0006t0001g0211 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2241-264A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487088 | ||||||
| chr12:111487171
|
C | T | 1 | a0003c0006t0001g0214 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2241-347G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487171 | ||||||
| chr12:111487208
|
A | G | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2241-384T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487208 | ||||||
| chr12:111487226
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-402G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487226 | ||||||
| chr12:111487253
|
T | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-429A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487253 | ||||||
| chr12:111487442
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-618A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487442 | ||||||
| chr12:111487453
|
TTTTA | T | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2241-633_2241-630d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487453 | ||||||
| chr12:111487533
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-709A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487533 | ||||||
| chr12:111487842
|
A | G | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2240+634T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487842 | ||||||
| chr12:111488076
|
C | T | 1 | a0001c0003t0001g0149 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2240+400G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488076 | ||||||
| chr12:111488428
|
A | T | 1 | a0002c0002t0001g0037 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2240+48T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488428 | ||||||
| chr12:111488451
|
T | G | 3 | a0001c0003t0001g0162a0001c0003t0001g0165a0001c0026t0001g0160 | 3 | HG00099.hp1 HG01361.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2240+25A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488451 | ||||||
| chr12:111488872
|
C | T | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1936-92G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111488872 | ||||||
| chr12:111489042
|
G | A | 13 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(10): Show | 13 | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1936-262C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489042 | ||||||
| chr12:111489097
|
T | C | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1936-317A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489097 | ||||||
| chr12:111489133
|
AATGCTAA others(8): Show |
A | 1 | a0003c0006t0001g0214 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1936-368_1936-354d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489133 | ||||||
| chr12:111489152
|
G | A | 1 | a0003c0005t0001g0203 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1936-372C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489152 | ||||||
| chr12:111489157
|
A | G | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1936-377T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489157 | ||||||
| chr12:111489187
|
T | TG | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-408_1936-407i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489187 | ||||||
| chr12:111489419
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-639G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489419 | ||||||
| chr12:111489430
|
C | T | 1 | a0003c0004t0003g0111 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1936-650G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489430 | ||||||
| chr12:111489481
|
C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1936-701G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489481 | ||||||
| chr12:111489506
|
G | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-726C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489506 | ||||||
| chr12:111489516
|
G | A | 2 | a0003c0006t0003g0213a0006c0010t0003g0112 | 2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-736C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489516 | ||||||
| chr12:111489568
|
C | T | 4 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0253others(1): Show | 4 | HG02572.hp2 HG02630.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1936-788G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489568 | ||||||
| chr12:111489569
|
G | A | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-789C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489569 | ||||||
| chr12:111489611
|
C | CA | 49 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(46): Show | 49 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(46): Show |
intron_variant | MODIFIER | c.1936-832dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489611 | ||||||
| chr12:111489611
|
C | CAA | 7 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0099others(4): Show | 7 | HG01168.hp2 HG01169.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.1936-833_1936-832d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489611 | ||||||
| chr12:111489800
|
G | T | 2 | a0002c0002t0001g0032a0002c0002t0001g0051 | 2 | HG03017.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.1936-1020C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489800 | ||||||
| chr12:111489867
|
G | A | 2 | a0003c0004t0003g0107a0003c0004t0003g0108 | 2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1936-1087C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489867 | ||||||
| chr12:111489935
|
G | A | 83 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(80): Show | 83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.1936-1155C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489935 | ||||||
| chr12:111490046
|
T | TA | 82 | a0001c0001t0006g0257a0001c0003t0001g0124a0001c0003t0001g0125others(79): Show | 82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.1936-1267dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490046 | ||||||
| chr12:111490212
|
TA | T | 13 | a0001c0001t0002g0243a0001c0001t0004g0226a0001c0001t0004g0245others(10): Show | 13 | HG01168.hp1 HG01168.hp2 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.1936-1433delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490212 | ||||||
| chr12:111490213
|
A | T | 2 | a0001c0001t0002g0273a0001c0001t0002g0291 | 2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1936-1433T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490213 | ||||||
| chr12:111490293
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-1513G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490293 | ||||||
| chr12:111490374
|
G | C | 10 | a0001c0003t0001g0131a0001c0003t0001g0132a0001c0003t0001g0185others(7): Show | 10 | HG00408.hp2 HG00597.hp2 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.1936-1594C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490374 | ||||||
| chr12:111490402
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-1622G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490402 | ||||||
| chr12:111490498
|
G | C | 1 | a0002c0002t0001g0081 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1936-1718C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490498 | ||||||
| chr12:111490630
|
A | C | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1936-1850T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490630 | ||||||
| chr12:111490664
|
C | T | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1936-1884G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490664 | ||||||
| chr12:111490690
|
C | T | 70 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(67): Show | 70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-1910G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490690 | ||||||
| chr12:111490844
|
A | C | 1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1936-2064T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490844 | ||||||
| chr12:111490847
|
C | T | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1936-2067G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490847 | ||||||
| chr12:111490875
|
C | T | 14 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(11): Show | 14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1936-2095G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490875 | ||||||
| chr12:111491129
|
G | A | 70 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(67): Show | 70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-2349C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491129 | ||||||
| chr12:111491168
|
A | G | 70 | a0001c0003t0001g0133a0002c0002t0001g0006a0002c0002t0001g0010others(67): Show | 70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-2388T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491168 | ||||||
| chr12:111491210
|
G | A | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-2430C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491210 | ||||||
| chr12:111491326
|
C | A | 83 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.1936-2546G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491326 | ||||||
| chr12:111491405
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-2625A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491405 | ||||||
| chr12:111491459
|
G | C | 1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1936-2679C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491459 | ||||||
| chr12:111491759
|
G | A | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1936-2979C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491759 | ||||||
| chr12:111492199
|
G | A | 1 | a0001c0003t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1936-3419C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492199 | ||||||
| chr12:111492287
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-3507T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492287 | ||||||
| chr12:111492480
|
G | A | 5 | a0001c0001t0002g0259a0001c0001t0002g0260a0001c0001t0002g0261others(2): Show | 5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.1936-3700C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492480 | ||||||
| chr12:111492542
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1936-3762G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492542 | ||||||
| chr12:111492596
|
T | C | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1936-3816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492596 | ||||||
| chr12:111492636
|
T | A | 1 | a0002c0002t0001g0071 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.1936-3856A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492636 | ||||||
| chr12:111492836
|
G | C | 1 | a0001c0003t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1936-4056C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492836 | ||||||
| chr12:111493418
|
C | CA | 21 | a0001c0001t0002g0219a0001c0001t0002g0221a0001c0001t0002g0224others(18): Show | 21 | HG01081.hp2 HG01952.hp1 HG02027.hp1 others(18): Show |
intron_variant | MODIFIER | c.1936-4639dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAA | 73 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(70): Show | 73 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.1936-4640_1936-463 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAA | 13 | a0001c0003t0001g0125a0001c0003t0001g0136a0001c0003t0001g0141others(10): Show | 13 | HG02027.hp2 HG02135.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1936-4641_1936-463 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAAAAAA others(1): Show |
9 | a0003c0004t0003g0095a0003c0004t0003g0096a0003c0004t0003g0097others(6): Show | 9 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1936-4646_1936-463 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAAAAAA others(2): Show |
10 | a0003c0004t0003g0089a0003c0004t0003g0103a0003c0004t0003g0106others(7): Show | 10 | HG02257.hp1 HG02486.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.1936-4647_1936-463 others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAAAAAA others(3): Show |
11 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092others(8): Show | 11 | HG02055.hp1 HG02717.hp1 HG02965.hp2 others(8): Show |
intron_variant | MODIFIER | c.1936-4648_1936-463 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAAAAAA others(4): Show |
2 | a0006c0010t0003g0112a0019c0027t0003g0207 | 2 | HG01943.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-4649_1936-463 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493418
|
C | CAAAAAAA others(5): Show |
2 | a0003c0006t0003g0213a0013c0021t0003g0115 | 2 | HG02630.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1936-4650_1936-463 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | ||||||
| chr12:111493630
|
A | AT | 8 | a0001c0001t0002g0228a0001c0001t0002g0259a0001c0001t0002g0290others(5): Show | 8 | HG02145.hp1 HG02148.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.1936-4851dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493630 | ||||||
| chr12:111493630
|
AT | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-4851delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493630 | ||||||
| chr12:111493689
|
C | T | 1 | a0003c0006t0001g0212 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1936-4909G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493689 | ||||||
| chr12:111493698
|
G | A | 2 | a0005c0009t0001g0001a0005c0009t0001g0002 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1936-4918C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493698 | ||||||
| chr12:111493900
|
T | A | 1 | a0002c0002t0001g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1936-5120A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493900 | ||||||
| chr12:111494078
|
C | T | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1936-5298G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494078 | ||||||
| chr12:111494095
|
A | G | 1 | a0001c0001t0002g0290 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1936-5315T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494095 | ||||||
| chr12:111494164
|
A | G | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1936-5384T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494164 | ||||||
| chr12:111494171
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-5391G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494171 | ||||||
| chr12:111494425
|
C | CT | 6 | a0001c0001t0002g0264a0001c0001t0002g0290a0001c0003t0001g0180others(3): Show | 6 | HG00642.hp1 HG02055.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1936-5646dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494425 | ||||||
| chr12:111494425
|
CT | C | 6 | a0001c0001t0002g0219a0001c0001t0002g0242a0001c0003t0003g0154others(3): Show | 6 | HG00642.hp2 HG01081.hp2 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.1936-5646delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494425 | ||||||
| chr12:111494428
|
T | G | 2 | a0003c0006t0003g0213a0006c0010t0003g0112 | 2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-5648A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494428 | ||||||
| chr12:111494449
|
G | A | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1936-5669C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494449 | ||||||
| chr12:111494464
|
C | T | 84 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(81): Show | 84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.1936-5684G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494464 | ||||||
| chr12:111494474
|
G | T | 1 | a0003c0004t0003g0104 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1936-5694C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494474 | ||||||
| chr12:111494600
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1936-5820T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494600 | ||||||
| chr12:111494996
|
C | T | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.1936-6216G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494996 | ||||||
| chr12:111495178
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-6398C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495178 | ||||||
| chr12:111495308
|
C | CA | 22 | a0001c0001t0002g0278a0001c0001t0002g0288a0001c0001t0004g0297others(19): Show | 22 | HG01168.hp2 HG02055.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.1936-6529dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | ||||||
| chr12:111495308
|
C | CAA | 75 | a0001c0003t0001g0130a0001c0003t0001g0133a0001c0003t0001g0143others(72): Show | 75 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(72): Show |
intron_variant | MODIFIER | c.1936-6530_1936-652 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | ||||||
| chr12:111495308
|
C | CAAA | 8 | a0001c0003t0001g0129a0002c0002t0001g0016a0002c0002t0001g0047others(5): Show | 8 | HG01928.hp1 HG01952.hp1 HG02132.hp2 others(5): Show |
intron_variant | MODIFIER | c.1936-6531_1936-652 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | ||||||
| chr12:111495378
|
T | C | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1936-6598A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495378 | ||||||
| chr12:111495557
|
A | G | 1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1936-6777T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495557 | ||||||
| chr12:111495736
|
T | C | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1936-6956A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495736 | ||||||
| chr12:111495741
|
C | A | 6 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(3): Show | 6 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.1936-6961G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495741 | ||||||
| chr12:111495763
|
T | G | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1936-6983A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495763 | ||||||
| chr12:111495960
|
A | G | 1 | a0003c0004t0003g0095 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1936-7180T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495960 | ||||||
| chr12:111495970
|
C | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-7190G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495970 | ||||||
| chr12:111495980
|
C | CA | 83 | a0001c0001t0002g0272a0001c0001t0002g0290a0001c0001t0004g0295others(80): Show | 83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.1936-7201dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495980 | ||||||
| chr12:111495980
|
C | CAA | 41 | a0001c0003t0001g0163a0001c0003t0003g0190a0003c0004t0003g0088others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01943.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-7202_1936-720 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495980 | ||||||
| chr12:111496260
|
G | A | 1 | a0017c0024t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1936-7480C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496260 | ||||||
| chr12:111496451
|
A | G | 2 | a0001c0012t0001g0153a0001c0012t0001g0188 | 2 | HG02071.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.1936-7671T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496451 | ||||||
| chr12:111496649
|
A | C | 1 | a0001c0003t0003g0174 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1936-7869T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496649 | ||||||
| chr12:111496862
|
T | TA | 39 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(36): Show | 39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.1936-8083dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496862 | ||||||
| chr12:111496971
|
C | T | 1 | a0002c0002t0001g0065 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1936-8191G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496971 | ||||||
| chr12:111497010
|
G | A | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-8230C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497010 | ||||||
| chr12:111497117
|
T | C | 5 | a0001c0001t0002g0217a0001c0003t0003g0172a0001c0003t0003g0173others(2): Show | 5 | HG01258.hp2 HG01496.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.1936-8337A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497117 | ||||||
| chr12:111497551
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-8771A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497551 | ||||||
| chr12:111497596
|
T | C | 1 | a0001c0003t0001g0139 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-8816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497596 | ||||||
| chr12:111497611
|
A | G | 1 | a0001c0003t0001g0139 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-8831T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497611 | ||||||
| chr12:111497912
|
A | G | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1936-9132T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497912 | ||||||
| chr12:111497929
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-9149G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497929 | ||||||
| chr12:111498096
|
G | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1936-9316C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111498096 | ||||||
| chr12:111499034
|
T | C | 84 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(81): Show | 84 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.1936-10254A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499034 | ||||||
| chr12:111499035
|
T | A | 1 | a0001c0003t0001g0139 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-10255A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499035 | ||||||
| chr12:111499065
|
G | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-10285C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499065 | ||||||
| chr12:111499177
|
C | A | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1935+10372G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499177 | ||||||
| chr12:111499189
|
G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1935+10360C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499189 | ||||||
| chr12:111499230
|
C | A | 1 | a0002c0002t0001g0070 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.1935+10319G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499230 | ||||||
| chr12:111499266
|
C | T | 14 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(11): Show | 14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1935+10283G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499266 | ||||||
| chr12:111499414
|
G | A | 1 | a0002c0002t0001g0069 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1935+10135C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499414 | ||||||
| chr12:111499530
|
C | A | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1935+10019G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499530 | ||||||
| chr12:111499689
|
C | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+9860G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499689 | ||||||
| chr12:111499962
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+9587G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499962 | ||||||
| chr12:111500073
|
A | T | 2 | a0001c0003t0001g0129a0003c0005t0001g0200 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+9476T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500073 | ||||||
| chr12:111500074
|
A | T | 2 | a0001c0003t0001g0129a0003c0005t0001g0200 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+9475T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500074 | ||||||
| chr12:111500237
|
A | G | 1 | a0002c0002t0001g0041 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1935+9312T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500237 | ||||||
| chr12:111500240
|
G | A | 1 | a0001c0003t0003g0174 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1935+9309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500240 | ||||||
| chr12:111500544
|
C | T | 1 | a0001c0003t0001g0169 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.1935+9005G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500544 | ||||||
| chr12:111500647
|
G | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+8902C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500647 | ||||||
| chr12:111500667
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+8882C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500667 | ||||||
| chr12:111500762
|
A | T | 1 | a0003c0006t0001g0212 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1935+8787T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500762 | ||||||
| chr12:111501103
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+8446A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501103 | ||||||
| chr12:111501321
|
A | G | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1935+8228T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501321 | ||||||
| chr12:111501357
|
T | C | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1935+8192A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501357 | ||||||
| chr12:111501513
|
C | T | 1 | a0001c0003t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1935+8036G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501513 | ||||||
| chr12:111501544
|
C | G | 1 | a0001c0003t0001g0194 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1935+8005G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501544 | ||||||
| chr12:111501672
|
G | T | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.1935+7877C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501672 | ||||||
| chr12:111501743
|
G | A | 59 | a0001c0003t0001g0133a0002c0002t0001g0010a0002c0002t0001g0011others(56): Show | 59 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.1935+7806C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501743 | ||||||
| chr12:111501745
|
T | A | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+7804A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501745 | ||||||
| chr12:111501784
|
C | T | 1 | a0001c0003t0001g0157 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1935+7765G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501784 | ||||||
| chr12:111501870
|
G | A | 1 | a0003c0005t0003g0201 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1935+7679C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501870 | ||||||
| chr12:111501894
|
C | CT | 41 | a0001c0001t0002g0280a0003c0004t0003g0088a0003c0004t0003g0089others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7654dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501894 | ||||||
| chr12:111501980
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7569G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501980 | ||||||
| chr12:111502241
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7308T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502241 | ||||||
| chr12:111502451
|
C | T | 2 | a0001c0003t0001g0171a0003c0004t0003g0094 | 2 | NA18906.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1935+7098G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502451 | ||||||
| chr12:111502554
|
C | T | 14 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(11): Show | 14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1935+6995G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502554 | ||||||
| chr12:111502749
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1935+6800C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502749 | ||||||
| chr12:111502781
|
T | C | 1 | a0002c0002t0001g0042 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1935+6768A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502781 | ||||||
| chr12:111502884
|
A | T | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1935+6665T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502884 | ||||||
| chr12:111502955
|
G | A | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1935+6594C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502955 | ||||||
| chr12:111502970
|
T | C | 5 | a0001c0001t0002g0259a0001c0001t0002g0260a0001c0001t0002g0261others(2): Show | 5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.1935+6579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502970 | ||||||
| chr12:111503209
|
T | C | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1935+6340A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503209 | ||||||
| chr12:111503316
|
T | C | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(127): Show | 130 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.1935+6233A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503316 | ||||||
| chr12:111503717
|
G | A | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1935+5832C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503717 | ||||||
| chr12:111503740
|
C | T | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+5809G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503740 | ||||||
| chr12:111503847
|
CCCAAAGT others(20): Show |
C | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1935+5675_1935+570 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503847 | ||||||
| chr12:111504174
|
A | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1935+5375T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504174 | ||||||
| chr12:111504332
|
G | A | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1935+5217C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504332 | ||||||
| chr12:111504510
|
G | A | 4 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1935+5039C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504510 | ||||||
| chr12:111504515
|
C | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+5034G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504515 | ||||||
| chr12:111504575
|
G | A | 3 | a0002c0002t0001g0041a0002c0002t0001g0053a0002c0002t0001g0054 | 3 | HG01123.hp1 HG02273.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1935+4974C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504575 | ||||||
| chr12:111504660
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+4889G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504660 | ||||||
| chr12:111504689
|
T | C | 43 | a0001c0003t0001g0133a0002c0002t0001g0010a0002c0002t0001g0011others(40): Show | 43 | HG00544.hp2 HG01123.hp1 HG02074.hp1 others(40): Show |
intron_variant | MODIFIER | c.1935+4860A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504689 | ||||||
| chr12:111504803
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+4746C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504803 | ||||||
| chr12:111505200
|
T | C | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1935+4349A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505200 | ||||||
| chr12:111505317
|
A | C | 1 | a0001c0026t0001g0160 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1935+4232T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505317 | ||||||
| chr12:111505640
|
G | C | 6 | a0001c0003t0001g0136a0001c0003t0001g0137a0001c0003t0001g0159others(3): Show | 6 | NA18946.hp2 NA18950.hp2 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1935+3909C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505640 | ||||||
| chr12:111505732
|
C | T | 84 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(81): Show | 84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.1935+3817G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505732 | ||||||
| chr12:111505770
|
G | A | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1935+3779C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505770 | ||||||
| chr12:111506176
|
C | T | 2 | a0003c0004t0003g0099a0003c0004t0003g0100 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1935+3373G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506176 | ||||||
| chr12:111506300
|
G | A | 2 | a0003c0006t0003g0213a0006c0010t0003g0112 | 2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1935+3249C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506300 | ||||||
| chr12:111506312
|
T | C | 1 | a0002c0002t0001g0006 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1935+3237A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506312 | ||||||
| chr12:111506336
|
A | C | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1935+3213T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506336 | ||||||
| chr12:111506527
|
T | C | 3 | a0002c0002t0001g0032a0002c0002t0001g0051a0002c0002t0001g0077 | 3 | HG03017.hp2 HG03239.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.1935+3022A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506527 | ||||||
| chr12:111506631
|
T | TC | 11 | a0001c0001t0002g0219a0001c0001t0002g0220a0001c0001t0002g0264others(8): Show | 11 | HG00408.hp1 HG00597.hp1 HG00642.hp1 others(8): Show |
intron_variant | MODIFIER | c.1935+2917dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506631 | ||||||
| chr12:111506635
|
C | T | 25 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(22): Show | 25 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(22): Show |
intron_variant | MODIFIER | c.1935+2914G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506635 | ||||||
| chr12:111506639
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1935+2910A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506639 | ||||||
| chr12:111506740
|
T | A | 4 | a0002c0002t0001g0048a0002c0002t0001g0050a0002c0002t0001g0061others(1): Show | 4 | HG02074.hp1 NA18950.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.1935+2809A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506740 | ||||||
| chr12:111506813
|
G | A | 1 | a0012c0022t0003g0118 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1935+2736C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506813 | ||||||
| chr12:111506855
|
G | A | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1935+2694C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506855 | ||||||
| chr12:111506926
|
G | A | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1935+2623C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506926 | ||||||
| chr12:111507050
|
A | G | 40 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(37): Show | 40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.1935+2499T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507050 | ||||||
| chr12:111507084
|
A | AC | 4 | a0003c0004t0003g0094a0003c0004t0003g0102a0003c0005t0001g0203others(1): Show | 4 | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.1935+2464dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507084 | ||||||
| chr12:111507136
|
T | C | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+2413A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507136 | ||||||
| chr12:111507193
|
G | A | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1935+2356C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507193 | ||||||
| chr12:111507244
|
G | A | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1935+2305C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507244 | ||||||
| chr12:111507281
|
G | A | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+2268C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507281 | ||||||
| chr12:111507334
|
G | C | 9 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1935+2215C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507334 | ||||||
| chr12:111507349
|
G | A | 2 | a0001c0003t0001g0129a0003c0005t0001g0200 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+2200C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507349 | ||||||
| chr12:111507466
|
G | A | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1935+2083C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507466 | ||||||
| chr12:111507495
|
G | C | 1 | a0001c0001t0002g0217 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1935+2054C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507495 | ||||||
| chr12:111507526
|
C | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+2023G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507526 | ||||||
| chr12:111507527
|
C | T | 80 | a0001c0003t0001g0133a0002c0002t0001g0005a0002c0002t0001g0006others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.1935+2022G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507527 | ||||||
| chr12:111507558
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1991T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507558 | ||||||
| chr12:111507648
|
G | A | 3 | a0003c0005t0001g0203a0003c0005t0001g0204a0003c0005t0001g0205 | 3 | HG01243.hp1 HG02145.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1935+1901C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507648 | ||||||
| chr12:111507790
|
T | G | 15 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(12): Show | 15 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.1935+1759A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507790 | ||||||
| chr12:111507980
|
T | C | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.1935+1569A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507980 | ||||||
| chr12:111508156
|
T | TA | 39 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(36): Show | 39 | HG01168.hp2 HG01243.hp2 HG01884.hp1 others(36): Show |
intron_variant | MODIFIER | c.1935+1392dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508156 | ||||||
| chr12:111508285
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1264T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508285 | ||||||
| chr12:111508288
|
CA | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1260delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508288 | ||||||
| chr12:111508288
|
CAG | C | 4 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0282others(1): Show | 4 | HG02622.hp2 HG02897.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1935+1259_1935+126 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508288 | ||||||
| chr12:111508441
|
C | CT | 107 | a0001c0001t0002g0220a0001c0001t0002g0271a0001c0001t0002g0276others(104): Show | 107 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.1935+1107dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | ||||||
| chr12:111508441
|
C | CTT | 56 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(53): Show | 56 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.1935+1106_1935+110 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | ||||||
| chr12:111508441
|
CT | C | 38 | a0001c0001t0002g0282a0003c0004t0003g0088a0003c0004t0003g0089others(35): Show | 38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.1935+1107delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | ||||||
| chr12:111508631
|
A | G | 210 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1935+918T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508631 | ||||||
| chr12:111508699
|
G | A | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+850C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508699 | ||||||
| chr12:111509033
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+516G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509033 | ||||||
| chr12:111509250
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+299G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509250 | ||||||
| chr12:111509422
|
T | C | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+127A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509422 | ||||||
| chr12:111509471
|
C | T | 1 | a0015c0030t0001g0210 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1935+78G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509471 | ||||||
| chr12:111509742
|
A | G | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1865-123T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509742 | ||||||
| chr12:111509778
|
T | C | 1 | a0001c0001t0004g0227 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1864+113A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509778 | ||||||
| chr12:111509824
|
G | A | 1 | a0002c0002t0001g0069 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1864+67C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509824 | ||||||
| chr12:111510227
|
A | T | 1 | a0002c0002t0001g0074 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1756+158T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 12/24 | chr12 | 111510227 | ||||||
| chr12:111510707
|
C | T | 1 | a0003c0004t0003g0088 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1559-125G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510707 | ||||||
| chr12:111510802
|
T | C | 1 | a0001c0003t0001g0177 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1559-220A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510802 | ||||||
| chr12:111510919
|
G | T | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1559-337C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510919 | ||||||
| chr12:111510933
|
T | C | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1559-351A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510933 | ||||||
| chr12:111511109
|
A | C | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1559-527T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511109 | ||||||
| chr12:111511223
|
G | A | 1 | a0003c0006t0001g0214 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1559-641C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511223 | ||||||
| chr12:111511245
|
G | GT | 42 | a0001c0001t0002g0234a0003c0004t0003g0088a0003c0004t0003g0089others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.1559-664dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511245 | ||||||
| chr12:111511313
|
T | A | 3 | a0001c0003t0001g0191a0001c0003t0001g0194a0001c0003t0001g0196 | 3 | HG02109.hp1 HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1559-731A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511313 | ||||||
| chr12:111511426
|
T | C | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1559-844A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511426 | ||||||
| chr12:111511460
|
A | AT | 54 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(51): Show | 54 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(51): Show |
intron_variant | MODIFIER | c.1559-879dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511460 | ||||||
| chr12:111511590
|
T | C | 234 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(231): Show | 234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.1559-1008A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511590 | ||||||
| chr12:111511630
|
T | C | 1 | a0003c0011t0001g0122 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1559-1048A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511630 | ||||||
| chr12:111511654
|
C | T | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1559-1072G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511654 | ||||||
| chr12:111511697
|
C | G | 1 | a0002c0002t0001g0041 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1559-1115G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511697 | ||||||
| chr12:111511784
|
A | T | 1 | a0001c0026t0001g0160 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1559-1202T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511784 | ||||||
| chr12:111512273
|
C | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+1084G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512273 | ||||||
| chr12:111512299
|
T | TG | 4 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(1): Show | 4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+1057dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512299 | ||||||
| chr12:111512313
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1558+1044C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512313 | ||||||
| chr12:111512354
|
T | C | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+1003A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512354 | ||||||
| chr12:111512368
|
G | A | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+989C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512368 | ||||||
| chr12:111512427
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+930A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512427 | ||||||
| chr12:111512451
|
C | CT | 46 | a0001c0001t0001g0007a0001c0001t0002g0228a0001c0001t0002g0261others(43): Show | 46 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.1558+905dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | ||||||
| chr12:111512451
|
CT | C | 21 | a0001c0001t0002g0284a0001c0001t0004g0296a0001c0003t0001g0126others(18): Show | 21 | HG00597.hp1 HG00597.hp2 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.1558+905delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | ||||||
| chr12:111512451
|
CTT | C | 59 | a0002c0002t0001g0006a0002c0002t0001g0011a0002c0002t0001g0012others(56): Show | 59 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(56): Show |
intron_variant | MODIFIER | c.1558+904_1558+905d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | ||||||
| chr12:111512647
|
G | A | 1 | a0002c0002t0001g0041 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1558+710C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512647 | ||||||
| chr12:111512671
|
T | C | 6 | a0001c0001t0004g0246a0001c0001t0004g0293a0001c0001t0004g0294others(3): Show | 6 | NA18952.hp2 NA18973.hp1 NA18992.hp2 others(3): Show |
intron_variant | MODIFIER | c.1558+686A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512671 | ||||||
| chr12:111512698
|
C | T | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1558+659G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512698 | ||||||
| chr12:111513247
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+110A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111513247 | ||||||
| chr12:111513571
|
T | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1376-32A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513571 | ||||||
| chr12:111513693
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1376-154T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513693 | ||||||
| chr12:111513909
|
C | A | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1376-370G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513909 | ||||||
| chr12:111514033
|
G | A | 1 | a0001c0003t0001g0149 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1376-494C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514033 | ||||||
| chr12:111514046
|
C | T | 206 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(203): Show | 206 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(203): Show |
intron_variant | MODIFIER | c.1376-507G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514046 | ||||||
| chr12:111514296
|
T | C | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1376-757A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514296 | ||||||
| chr12:111514363
|
C | T | 206 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(203): Show | 206 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(203): Show |
intron_variant | MODIFIER | c.1376-824G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514363 | ||||||
| chr12:111514411
|
G | A | 2 | a0001c0001t0002g0229a0001c0001t0006g0257 | 2 | HG03654.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1376-872C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514411 | ||||||
| chr12:111514436
|
A | C | 1 | a0003c0004t0003g0111 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1376-897T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514436 | ||||||
| chr12:111514514
|
T | C | 1 | a0003c0006t0001g0212 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1376-975A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514514 | ||||||
| chr12:111514577
|
T | G | 4 | a0001c0001t0002g0217a0001c0003t0003g0172a0001c0003t0003g0173others(1): Show | 4 | HG01496.hp1 HG01952.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.1376-1038A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514577 | ||||||
| chr12:111514733
|
C | G | 1 | a0001c0001t0002g0229 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1376-1194G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514733 | ||||||
| chr12:111514783
|
T | G | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1376-1244A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514783 | ||||||
| chr12:111514905
|
G | C | 4 | a0001c0001t0002g0260a0001c0001t0002g0261a0001c0001t0002g0275others(1): Show | 4 | NA18959.hp2 NA18986.hp2 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.1375+1249C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514905 | ||||||
| chr12:111514976
|
T | A | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1375+1178A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514976 | ||||||
| chr12:111515196
|
T | C | 1 | a0002c0002t0001g0011 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1375+958A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515196 | ||||||
| chr12:111515236
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1375+918G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515236 | ||||||
| chr12:111515446
|
C | T | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1375+708G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515446 | ||||||
| chr12:111515900
|
G | A | 28 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(25): Show | 28 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(25): Show |
intron_variant | MODIFIER | c.1375+254C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515900 | ||||||
| chr12:111516124
|
C | A | 1 | a0002c0002t0001g0078 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1375+30G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111516124 | ||||||
| chr12:111516125
|
A | C | 1 | a0002c0002t0001g0078 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1375+29T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111516125 | ||||||
| chr12:111517412
|
C | T | 2 | a0002c0002t0001g0049a0002c0002t0001g0067 | 2 | HG02080.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1165+837G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517412 | ||||||
| chr12:111517484
|
T | C | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1165+765A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517484 | ||||||
| chr12:111517714
|
T | C | 1 | a0001c0003t0001g0124 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1165+535A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517714 | ||||||
| chr12:111517769
|
G | A | 1 | a0003c0004t0003g0111 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1165+480C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517769 | ||||||
| chr12:111518610
|
G | A | 1 | a0001c0003t0001g0180 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.987-183C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518610 | ||||||
| chr12:111518969
|
C | T | 1 | a0001c0003t0001g0125 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.987-542G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518969 | ||||||
| chr12:111518972
|
T | G | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.987-545A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518972 | ||||||
| chr12:111518984
|
G | T | 1 | a0002c0002t0001g0006 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.987-557C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518984 | ||||||
| chr12:111519227
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.986+652G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111519227 | ||||||
| chr12:111519674
|
A | G | 1 | a0001c0012t0001g0153 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.986+205T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111519674 | ||||||
| chr12:111520187
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.789-111C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520187 | ||||||
| chr12:111520523
|
C | T | 1 | a0001c0003t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.788+359G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520523 | ||||||
| chr12:111520729
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.788+153A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520729 | ||||||
| chr12:111521250
|
C | G | 1 | a0002c0002t0001g0041 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.697-277G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521250 | ||||||
| chr12:111521481
|
G | A | 1 | a0001c0001t0002g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.697-508C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521481 | ||||||
| chr12:111521493
|
G | A | 11 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(8): Show | 11 | HG01167.hp1 HG02735.hp1 HG02818.hp2 others(8): Show |
intron_variant | MODIFIER | c.697-520C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521493 | ||||||
| chr12:111521773
|
G | A | 2 | a0001c0001t0001g0008a0001c0001t0003g0009 | 2 | HG02622.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.697-800C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521773 | ||||||
| chr12:111522114
|
TA | T | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.697-1142delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522114 | ||||||
| chr12:111522228
|
TA | T | 181 | a0001c0001t0002g0219a0001c0001t0002g0222a0001c0001t0002g0223others(178): Show | 181 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(178): Show |
intron_variant | MODIFIER | c.697-1256delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | ||||||
| chr12:111522228
|
TAAA | T | 33 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(30): Show | 33 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(30): Show |
intron_variant | MODIFIER | c.697-1258_697-1256d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | ||||||
| chr12:111522228
|
TAAAA | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.697-1259_697-1256d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | ||||||
| chr12:111522300
|
G | A | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.697-1327C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522300 | ||||||
| chr12:111522377
|
G | A | 3 | a0001c0001t0002g0286a0001c0001t0002g0287a0001c0001t0002g0288 | 3 | NA19056.hp1 NA19079.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.697-1404C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522377 | ||||||
| chr12:111522486
|
T | C | 2 | a0003c0006t0003g0213a0006c0010t0003g0112 | 2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.697-1513A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522486 | ||||||
| chr12:111522511
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-1538T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522511 | ||||||
| chr12:111522512
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-1539C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522512 | ||||||
| chr12:111522798
|
C | T | 1 | a0002c0002t0001g0020 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.697-1825G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522798 | ||||||
| chr12:111522828
|
C | T | 2 | a0003c0007t0003g0117a0003c0014t0003g0003 | 2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.697-1855G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522828 | ||||||
| chr12:111522831
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.697-1858A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522831 | ||||||
| chr12:111522871
|
G | A | 1 | a0001c0003t0001g0194 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.697-1898C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522871 | ||||||
| chr12:111522909
|
G | A | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.697-1936C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522909 | ||||||
| chr12:111522977
|
TA | T | 7 | a0001c0001t0002g0224a0001c0001t0004g0226a0001c0003t0001g0149others(4): Show | 7 | HG00408.hp2 HG01975.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.697-2005delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522977 | ||||||
| chr12:111522993
|
T | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-2020A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522993 | ||||||
| chr12:111523004
|
G | C | 9 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.697-2031C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523004 | ||||||
| chr12:111523237
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+1955C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523237 | ||||||
| chr12:111523319
|
A | G | 1 | a0003c0004t0003g0106 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.696+1873T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523319 | ||||||
| chr12:111523448
|
G | A | 1 | a0002c0002t0001g0015 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.696+1744C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523448 | ||||||
| chr12:111523518
|
G | A | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.696+1674C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523518 | ||||||
| chr12:111523655
|
G | C | 25 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(22): Show | 25 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.696+1537C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523655 | ||||||
| chr12:111523681
|
G | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.696+1511C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523681 | ||||||
| chr12:111523694
|
C | G | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.696+1498G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523694 | ||||||
| chr12:111523763
|
GA | G | 26 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(23): Show | 26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.696+1428delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523763 | ||||||
| chr12:111523793
|
T | G | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.696+1399A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523793 | ||||||
| chr12:111523982
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+1210T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523982 | ||||||
| chr12:111524224
|
A | G | 1 | a0002c0002t0001g0056 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.696+968T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524224 | ||||||
| chr12:111524476
|
C | G | 1 | a0002c0002t0001g0020 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.696+716G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524476 | ||||||
| chr12:111524538
|
C | G | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.696+654G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524538 | ||||||
| chr12:111524683
|
G | C | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.696+509C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524683 | ||||||
| chr12:111524777
|
C | T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.696+415G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524777 | ||||||
| chr12:111524882
|
C | T | 1 | a0001c0001t0002g0256 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.696+310G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524882 | ||||||
| chr12:111524888
|
G | A | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.696+304C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524888 | ||||||
| chr12:111525120
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+72A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111525120 | ||||||
| chr12:111525379
|
T | A | 3 | a0002c0002t0001g0042a0002c0002t0001g0059a0002c0002t0001g0073 | 3 | NA18959.hp1 NA18974.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.572-63A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525379 | ||||||
| chr12:111525515
|
A | G | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.572-199T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525515 | ||||||
| chr12:111525618
|
C | T | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-302G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525618 | ||||||
| chr12:111525686
|
A | AT | 6 | a0001c0001t0002g0256a0001c0001t0002g0261a0001c0001t0002g0276others(3): Show | 6 | HG01361.hp1 NA18943.hp1 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-371dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525686 | ||||||
| chr12:111525686
|
AT | A | 195 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(192): Show | 195 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(192): Show |
intron_variant | MODIFIER | c.572-371delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525686 | ||||||
| chr12:111525746
|
G | A | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.572-430C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525746 | ||||||
| chr12:111525766
|
C | T | 79 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(76): Show | 79 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(76): Show |
intron_variant | MODIFIER | c.572-450G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525766 | ||||||
| chr12:111525778
|
G | A | 2 | a0001c0001t0004g0239a0001c0003t0001g0149 | 2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.572-462C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525778 | ||||||
| chr12:111526064
|
A | G | 6 | a0002c0002t0001g0028a0002c0002t0001g0042a0002c0002t0001g0059others(3): Show | 6 | NA18959.hp1 NA18974.hp2 NA18981.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-748T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526064 | ||||||
| chr12:111526132
|
T | C | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526132 | ||||||
| chr12:111526403
|
CT | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-1088delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526403 | ||||||
| chr12:111526409
|
TTTTTTTT others(1): Show |
T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-1101_572-1094d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526409 | ||||||
| chr12:111526800
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-1484T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526800 | ||||||
| chr12:111526828
|
C | A | 4 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(1): Show | 4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.572-1512G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526828 | ||||||
| chr12:111526912
|
T | G | 1 | a0002c0002t0001g0043 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.572-1596A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526912 | ||||||
| chr12:111527174
|
C | T | 2 | a0015c0030t0001g0210a0016c0029t0001g0209 | 2 | NA19056.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.572-1858G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527174 | ||||||
| chr12:111527546
|
A | T | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.572-2230T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527546 | ||||||
| chr12:111527721
|
A | G | 1 | a0001c0003t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.572-2405T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527721 | ||||||
| chr12:111527796
|
T | G | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.572-2480A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527796 | ||||||
| chr12:111527854
|
C | A | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-2538G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527854 | ||||||
| chr12:111528213
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-2897C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528213 | ||||||
| chr12:111528548
|
T | A | 1 | a0002c0002t0001g0062 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.572-3232A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528548 | ||||||
| chr12:111528804
|
G | A | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.572-3488C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528804 | ||||||
| chr12:111528998
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-3682C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528998 | ||||||
| chr12:111529038
|
C | T | 1 | a0009c0017t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.572-3722G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529038 | ||||||
| chr12:111529099
|
C | A | 3 | a0001c0008t0007g0145a0001c0008t0007g0146a0001c0008t0007g0184 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.572-3783G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529099 | ||||||
| chr12:111529104
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.572-3788C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529104 | ||||||
| chr12:111529168
|
T | G | 1 | a0002c0002t0001g0051 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.572-3852A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529168 | ||||||
| chr12:111529198
|
A | G | 71 | a0002c0002t0001g0006a0002c0002t0001g0010a0002c0002t0001g0011others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.572-3882T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529198 | ||||||
| chr12:111529231
|
G | T | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.572-3915C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529231 | ||||||
| chr12:111529263
|
A | G | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.572-3947T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529263 | ||||||
| chr12:111529351
|
A | T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4035T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529351 | ||||||
| chr12:111529353
|
TAG | T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4039_572-4038d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529353 | ||||||
| chr12:111529356
|
A | C | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4040T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529356 | ||||||
| chr12:111529357
|
A | T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4041T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529357 | ||||||
| chr12:111529546
|
C | G | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-4230G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529546 | ||||||
| chr12:111529968
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-4652G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529968 | ||||||
| chr12:111530381
|
C | A | 1 | a0002c0002t0001g0018 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.572-5065G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530381 | ||||||
| chr12:111530425
|
C | G | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.572-5109G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530425 | ||||||
| chr12:111530491
|
T | C | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.572-5175A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530491 | ||||||
| chr12:111530512
|
T | C | 1 | a0003c0004t0003g0094 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.572-5196A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530512 | ||||||
| chr12:111530630
|
C | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-5314G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530630 | ||||||
| chr12:111530674
|
C | T | 1 | a0003c0011t0001g0122 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.572-5358G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530674 | ||||||
| chr12:111530727
|
T | C | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.572-5411A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530727 | ||||||
| chr12:111530809
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-5493T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530809 | ||||||
| chr12:111530951
|
C | G | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.572-5635G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530951 | ||||||
| chr12:111531048
|
G | A | 25 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(22): Show | 25 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.572-5732C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531048 | ||||||
| chr12:111531086
|
C | G | 8 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108others(5): Show | 8 | HG01884.hp1 HG02965.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.572-5770G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531086 | ||||||
| chr12:111531089
|
G | A | 1 | a0001c0003t0001g0164 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.572-5773C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531089 | ||||||
| chr12:111531113
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-5797A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531113 | ||||||
| chr12:111531128
|
C | G | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.572-5812G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531128 | ||||||
| chr12:111531230
|
T | C | 2 | a0001c0003t0001g0162a0003c0004t0005g0087 | 2 | HG02976.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.572-5914A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531230 | ||||||
| chr12:111531386
|
T | C | 4 | a0001c0001t0002g0286a0001c0001t0002g0287a0001c0001t0002g0288others(1): Show | 4 | NA18948.hp1 NA19056.hp1 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.572-6070A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531386 | ||||||
| chr12:111531416
|
G | A | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.572-6100C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531416 | ||||||
| chr12:111531424
|
G | A | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.572-6108C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531424 | ||||||
| chr12:111531424
|
GTCTCAAA others(18): Show |
G | 1 | a0002c0002t0001g0054 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.572-6133_572-6109d others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531424 | ||||||
| chr12:111531577
|
C | T | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.572-6261G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531577 | ||||||
| chr12:111531584
|
ATAC | A | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-6271_572-6269d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531584 | ||||||
| chr12:111531644
|
C | T | 129 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(126): Show | 129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.572-6328G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531644 | ||||||
| chr12:111531885
|
C | A | 15 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(12): Show | 15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.572-6569G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531885 | ||||||
| chr12:111532044
|
G | C | 1 | a0001c0003t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.572-6728C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532044 | ||||||
| chr12:111532131
|
G | A | 1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.572-6815C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532131 | ||||||
| chr12:111532318
|
G | A | 1 | a0002c0002t0001g0069 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.572-7002C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532318 | ||||||
| chr12:111532846
|
G | A | 2 | a0001c0001t0002g0280a0001c0001t0002g0298 | 2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.572-7530C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532846 | ||||||
| chr12:111532853
|
G | GA | 32 | a0001c0001t0001g0008a0001c0003t0001g0143a0002c0002t0001g0038others(29): Show | 32 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.572-7538dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | ||||||
| chr12:111532853
|
G | GAA | 85 | a0001c0001t0001g0007a0001c0001t0003g0009a0001c0003t0001g0124others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-7539_572-7538d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | ||||||
| chr12:111532853
|
GA | G | 14 | a0001c0001t0002g0238a0001c0001t0004g0216a0001c0001t0004g0226others(11): Show | 14 | HG02135.hp1 HG02735.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.572-7538delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | ||||||
| chr12:111532980
|
G | C | 1 | a0002c0002t0001g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.572-7664C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532980 | ||||||
| chr12:111533271
|
C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.572-7955G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533271 | ||||||
| chr12:111533375
|
A | G | 3 | a0001c0003t0001g0180a0001c0003t0001g0181a0001c0003t0001g0182 | 3 | HG02027.hp2 NA18969.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.572-8059T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533375 | ||||||
| chr12:111533429
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-8113T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533429 | ||||||
| chr12:111533512
|
A | AT | 33 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(30): Show | 33 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.572-8197dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533512 | ||||||
| chr12:111533533
|
C | CAG | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-8219_572-8218d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533533 | ||||||
| chr12:111533572
|
C | A | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-8256G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533572 | ||||||
| chr12:111533580
|
C | T | 2 | a0001c0003t0001g0142a0003c0006t0001g0211 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.572-8264G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533580 | ||||||
| chr12:111533881
|
T | C | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-8565A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533881 | ||||||
| chr12:111534217
|
C | T | 1 | a0001c0003t0001g0168 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.572-8901G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534217 | ||||||
| chr12:111534225
|
T | A | 1 | a0002c0002t0001g0065 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.572-8909A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534225 | ||||||
| chr12:111534262
|
AT | A | 16 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(13): Show | 16 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.572-8947delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534262 | ||||||
| chr12:111534281
|
G | A | 1 | a0001c0001t0004g0296 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.572-8965C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534281 | ||||||
| chr12:111534338
|
T | C | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.572-9022A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534338 | ||||||
| chr12:111534475
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-9159A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534475 | ||||||
| chr12:111534667
|
G | A | 1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.572-9351C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534667 | ||||||
| chr12:111534676
|
G | A | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.572-9360C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534676 | ||||||
| chr12:111534752
|
C | T | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.572-9436G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534752 | ||||||
| chr12:111534785
|
G | A | 1 | a0001c0003t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.572-9469C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534785 | ||||||
| chr12:111535115
|
G | GACCC | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-9803_572-9800d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535115 | ||||||
| chr12:111535120
|
T | C | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.572-9804A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535120 | ||||||
| chr12:111535306
|
C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.572-9990G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535306 | ||||||
| chr12:111535336
|
A | G | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-10020T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535336 | ||||||
| chr12:111535337
|
A | C | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-10021T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535337 | ||||||
| chr12:111535479
|
G | A | 1 | a0003c0004t0003g0090 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.572-10163C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535479 | ||||||
| chr12:111535554
|
A | G | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.572-10238T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535554 | ||||||
| chr12:111535709
|
T | C | 2 | a0005c0009t0001g0001a0005c0009t0001g0002 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.572-10393A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535709 | ||||||
| chr12:111535771
|
T | A | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-10455A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535771 | ||||||
| chr12:111535771
|
T | C | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(125): Show | 128 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(125): Show |
intron_variant | MODIFIER | c.572-10455A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535771 | ||||||
| chr12:111535852
|
T | G | 2 | a0003c0004t0003g0107a0003c0004t0003g0108 | 2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.572-10536A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535852 | ||||||
| chr12:111535869
|
G | A | 2 | a0001c0001t0002g0236a0001c0001t0002g0237 | 2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.572-10553C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535869 | ||||||
| chr12:111535904
|
G | T | 2 | a0002c0002t0001g0061a0002c0002t0001g0069 | 2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.572-10588C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535904 | ||||||
| chr12:111535925
|
A | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-10609T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535925 | ||||||
| chr12:111535978
|
C | T | 1 | a0002c0002t0001g0028 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.572-10662G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535978 | ||||||
| chr12:111535995
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-10679C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535995 | ||||||
| chr12:111535999
|
C | CA | 10 | a0001c0001t0002g0233a0001c0001t0004g0283a0001c0003t0001g0125others(7): Show | 10 | HG00544.hp1 HG02135.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.572-10684dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | ||||||
| chr12:111535999
|
C | CAAA | 33 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(30): Show | 33 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.572-10686_572-1068 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | ||||||
| chr12:111535999
|
C | CAAAA | 6 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0092others(3): Show | 6 | HG01943.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-10687_572-1068 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | ||||||
| chr12:111536251
|
T | G | 1 | a0003c0005t0001g0206 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.572-10935A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536251 | ||||||
| chr12:111536339
|
G | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-11023C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536339 | ||||||
| chr12:111536476
|
T | G | 82 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(79): Show | 82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.572-11160A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536476 | ||||||
| chr12:111536564
|
C | T | 2 | a0002c0002t0001g0061a0002c0002t0001g0069 | 2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.572-11248G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536564 | ||||||
| chr12:111536609
|
A | G | 1 | a0013c0021t0003g0115 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-11293T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536609 | ||||||
| chr12:111536777
|
G | GT | 113 | a0001c0001t0001g0007a0001c0001t0002g0223a0001c0001t0002g0234others(110): Show | 113 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(110): Show |
intron_variant | MODIFIER | c.572-11462dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536777 | ||||||
| chr12:111536777
|
G | GTT | 21 | a0001c0001t0004g0246a0001c0001t0004g0293a0001c0001t0004g0295others(18): Show | 21 | HG00544.hp2 HG01243.hp2 HG01993.hp1 others(18): Show |
intron_variant | MODIFIER | c.572-11463_572-1146 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536777 | ||||||
| chr12:111536780
|
T | G | 2 | a0001c0001t0002g0217a0001c0003t0003g0174 | 2 | HG01496.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.572-11464A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536780 | ||||||
| chr12:111536917
|
A | G | 1 | a0002c0002t0001g0031 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.572-11601T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536917 | ||||||
| chr12:111537019
|
A | G | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-11703T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537019 | ||||||
| chr12:111537190
|
T | C | 1 | a0001c0003t0001g0186 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.572-11874A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537190 | ||||||
| chr12:111537359
|
C | A | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-12043G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537359 | ||||||
| chr12:111537401
|
A | G | 1 | a0002c0002t0001g0055 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.572-12085T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537401 | ||||||
| chr12:111537455
|
C | T | 6 | a0001c0003t0001g0191a0001c0003t0001g0192a0001c0003t0001g0193others(3): Show | 6 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.572-12139G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537455 | ||||||
| chr12:111537549
|
C | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.572-12233G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537549 | ||||||
| chr12:111537582
|
C | CAAA | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-12269_572-1226 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537582 | ||||||
| chr12:111538105
|
GA | G | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-12790delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538105 | ||||||
| chr12:111538117
|
C | A | 1 | a0002c0002t0001g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.572-12801G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538117 | ||||||
| chr12:111538389
|
C | CT | 43 | a0001c0001t0002g0266a0001c0001t0004g0226a0003c0004t0003g0088others(40): Show | 43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.572-13074dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538389 | ||||||
| chr12:111538476
|
G | A | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.572-13160C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538476 | ||||||
| chr12:111538484
|
GGGACTAC others(1345): Show |
G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12444_572-1316 others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538484 | ||||||
| chr12:111538972
|
C | T | 234 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(231): Show | 234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.571+13308G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538972 | ||||||
| chr12:111539525
|
A | G | 1 | a0003c0004t0003g0103 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.571+12755T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539525 | ||||||
| chr12:111539574
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+12706G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539574 | ||||||
| chr12:111539837
|
C | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12443G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539837 | ||||||
| chr12:111539839
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12441T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539839 | ||||||
| chr12:111539842
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12438T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539842 | ||||||
| chr12:111539843
|
T | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12437A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539843 | ||||||
| chr12:111539846
|
A | T | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12434T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539846 | ||||||
| chr12:111539851
|
C | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12429G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539851 | ||||||
| chr12:111539852
|
A | T | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12428T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539852 | ||||||
| chr12:111539853
|
G | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12427C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539853 | ||||||
| chr12:111539854
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12426T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539854 | ||||||
| chr12:111539859
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12421T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539859 | ||||||
| chr12:111539861
|
G | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12419C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539861 | ||||||
| chr12:111539865
|
T | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12415A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539865 | ||||||
| chr12:111539880
|
A | T | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12400T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539880 | ||||||
| chr12:111539895
|
T | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12385A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539895 | ||||||
| chr12:111539897
|
G | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12383C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539897 | ||||||
| chr12:111539899
|
C | T | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12381G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539899 | ||||||
| chr12:111539904
|
T | A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12376A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539904 | ||||||
| chr12:111539915
|
A | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12365T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539915 | ||||||
| chr12:111539918
|
C | G | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+12362G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539918 | ||||||
| chr12:111539922
|
AACCTATG others(2268): Show |
A | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+10083_571+1235 others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539922 | ||||||
| chr12:111540153
|
A | AAACT | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+12126_571+1212 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540153 | ||||||
| chr12:111540225
|
T | C | 2 | a0001c0001t0002g0292a0010c0018t0002g0244 | 2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.571+12055A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540225 | ||||||
| chr12:111540340
|
C | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11940G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540340 | ||||||
| chr12:111540579
|
A | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.571+11701T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540579 | ||||||
| chr12:111540696
|
C | CT | 12 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0269others(9): Show | 12 | HG01071.hp2 HG02080.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.571+11583dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540696 | ||||||
| chr12:111540696
|
CT | C | 40 | a0001c0003t0001g0135a0003c0004t0003g0088a0003c0004t0003g0089others(37): Show | 40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.571+11583delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540696 | ||||||
| chr12:111540727
|
C | T | 1 | a0002c0002t0001g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.571+11553G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540727 | ||||||
| chr12:111540992
|
G | A | 2 | a0003c0004t0003g0107a0003c0004t0003g0108 | 2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.571+11288C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540992 | ||||||
| chr12:111541010
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11270G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541010 | ||||||
| chr12:111541256
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11024C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541256 | ||||||
| chr12:111541295
|
A | G | 1 | a0001c0003t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.571+10985T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541295 | ||||||
| chr12:111541346
|
CT | C | 270 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(267): Show | 270 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(267): Show |
intron_variant | MODIFIER | c.571+10933delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541346 | ||||||
| chr12:111541346
|
CTT | C | 7 | a0001c0001t0002g0222a0001c0001t0002g0275a0001c0001t0002g0285others(4): Show | 7 | HG01169.hp1 HG02486.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.571+10932_571+1093 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541346 | ||||||
| chr12:111541362
|
T | C | 17 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0227others(14): Show | 17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
intron_variant | MODIFIER | c.571+10918A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541362 | ||||||
| chr12:111541381
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+10899A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541381 | ||||||
| chr12:111541435
|
T | C | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.571+10845A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541435 | ||||||
| chr12:111541622
|
C | T | 15 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(12): Show | 15 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.571+10658G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541622 | ||||||
| chr12:111541800
|
A | T | 42 | a0001c0001t0004g0247a0003c0004t0003g0088a0003c0004t0003g0089others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.571+10480T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541800 | ||||||
| chr12:111541801
|
T | A | 1 | a0001c0003t0001g0124 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.571+10479A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541801 | ||||||
| chr12:111542199
|
C | T | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+10081G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542199 | ||||||
| chr12:111542203
|
A | C | 1 | a0001c0001t0002g0277 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.571+10077T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542203 | ||||||
| chr12:111542300
|
G | A | 1 | a0002c0002t0001g0051 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.571+9980C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542300 | ||||||
| chr12:111542310
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.571+9970T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542310 | ||||||
| chr12:111542336
|
T | C | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+9944A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542336 | ||||||
| chr12:111542444
|
T | A | 3 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092 | 3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+9836A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542444 | ||||||
| chr12:111542671
|
T | A | 1 | a0001c0003t0001g0150 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.571+9609A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542671 | ||||||
| chr12:111543141
|
T | C | 6 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(3): Show | 6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.571+9139A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543141 | ||||||
| chr12:111543465
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+8815C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543465 | ||||||
| chr12:111543593
|
C | G | 1 | a0002c0002t0001g0064 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.571+8687G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543593 | ||||||
| chr12:111543698
|
C | T | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.571+8582G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543698 | ||||||
| chr12:111543736
|
A | G | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.571+8544T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543736 | ||||||
| chr12:111543747
|
C | A | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+8533G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543747 | ||||||
| chr12:111543756
|
A | C | 2 | a0001c0001t0002g0236a0001c0001t0002g0237 | 2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.571+8524T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543756 | ||||||
| chr12:111543761
|
C | A | 1 | a0001c0003t0003g0152 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.571+8519G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543761 | ||||||
| chr12:111543854
|
T | C | 2 | a0003c0004t0003g0099a0003c0004t0003g0100 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.571+8426A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543854 | ||||||
| chr12:111543896
|
T | C | 1 | a0003c0004t0003g0108 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.571+8384A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543896 | ||||||
| chr12:111544099
|
A | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+8181T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544099 | ||||||
| chr12:111544256
|
C | T | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.571+8024G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544256 | ||||||
| chr12:111544620
|
G | A | 1 | a0002c0002t0001g0084 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.571+7660C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544620 | ||||||
| chr12:111544658
|
G | T | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.571+7622C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544658 | ||||||
| chr12:111544883
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+7397T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544883 | ||||||
| chr12:111545009
|
T | A | 234 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(231): Show | 234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.571+7271A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545009 | ||||||
| chr12:111545076
|
G | A | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.571+7204C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545076 | ||||||
| chr12:111545226
|
G | T | 4 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(1): Show | 4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+7054C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545226 | ||||||
| chr12:111545299
|
G | T | 1 | a0002c0016t0001g0057 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.571+6981C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545299 | ||||||
| chr12:111545453
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+6827C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545453 | ||||||
| chr12:111545563
|
A | G | 1 | a0001c0001t0002g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.571+6717T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545563 | ||||||
| chr12:111545897
|
C | T | 3 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092 | 3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+6383G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545897 | ||||||
| chr12:111545950
|
G | A | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+6330C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545950 | ||||||
| chr12:111545962
|
G | GA | 89 | a0001c0003t0001g0131a0001c0003t0001g0132a0001c0003t0001g0179others(86): Show | 89 | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.571+6317dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545962 | ||||||
| chr12:111545962
|
GA | G | 8 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0258others(5): Show | 8 | HG01256.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+6317delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545962 | ||||||
| chr12:111546033
|
G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.571+6247C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546033 | ||||||
| chr12:111546250
|
T | C | 9 | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0231others(6): Show | 9 | HG02572.hp2 HG02630.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.571+6030A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546250 | ||||||
| chr12:111546421
|
T | C | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+5859A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546421 | ||||||
| chr12:111546530
|
G | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5750C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546530 | ||||||
| chr12:111546945
|
A | G | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+5335T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546945 | ||||||
| chr12:111546965
|
T | C | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.571+5315A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546965 | ||||||
| chr12:111546997
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5283G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546997 | ||||||
| chr12:111547047
|
T | C | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+5233A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547047 | ||||||
| chr12:111547151
|
G | A | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.571+5129C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547151 | ||||||
| chr12:111547204
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5076C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547204 | ||||||
| chr12:111547463
|
C | T | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+4817G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547463 | ||||||
| chr12:111547581
|
C | T | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+4699G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547581 | ||||||
| chr12:111547672
|
C | A | 2 | a0001c0003t0001g0142a0003c0006t0001g0211 | 2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.571+4608G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547672 | ||||||
| chr12:111547777
|
T | TA | 71 | a0001c0001t0002g0268a0001c0001t0002g0289a0001c0003t0001g0159others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.571+4502dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547777 | ||||||
| chr12:111547818
|
A | G | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+4462T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547818 | ||||||
| chr12:111547836
|
A | AT | 54 | a0001c0001t0002g0231a0001c0001t0002g0236a0001c0001t0002g0237others(51): Show | 54 | HG00544.hp2 HG01168.hp2 HG01169.hp2 others(51): Show |
intron_variant | MODIFIER | c.571+4443dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547836 | ||||||
| chr12:111547836
|
AT | A | 81 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0234others(78): Show | 81 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(78): Show |
intron_variant | MODIFIER | c.571+4443delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547836 | ||||||
| chr12:111547900
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+4380A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547900 | ||||||
| chr12:111547901
|
G | A | 2 | a0003c0004t0003g0090a0003c0004t0003g0092 | 2 | HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+4379C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547901 | ||||||
| chr12:111548050
|
G | A | 1 | a0002c0002t0001g0042 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.571+4230C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548050 | ||||||
| chr12:111548150
|
G | A | 78 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(75): Show | 78 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.571+4130C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548150 | ||||||
| chr12:111548216
|
C | T | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+4064G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548216 | ||||||
| chr12:111548443
|
CAG | C | 5 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | HG01943.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.571+3835_571+3836d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548443 | ||||||
| chr12:111548575
|
A | T | 1 | a0002c0002t0001g0064 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.571+3705T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548575 | ||||||
| chr12:111548631
|
A | G | 3 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0253 | 3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.571+3649T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548631 | ||||||
| chr12:111548698
|
C | T | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.571+3582G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548698 | ||||||
| chr12:111548935
|
C | G | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.571+3345G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548935 | ||||||
| chr12:111549010
|
G | A | 1 | a0003c0005t0001g0206 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.571+3270C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549010 | ||||||
| chr12:111549124
|
A | C | 1 | a0001c0001t0002g0260 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.571+3156T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549124 | ||||||
| chr12:111549184
|
T | G | 1 | a0012c0022t0003g0118 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.571+3096A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549184 | ||||||
| chr12:111549188
|
C | T | 1 | a0002c0002t0003g0075 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.571+3092G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549188 | ||||||
| chr12:111550062
|
C | CA | 93 | a0001c0001t0002g0222a0001c0001t0002g0224a0001c0001t0002g0236others(90): Show | 93 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(90): Show |
intron_variant | MODIFIER | c.571+2217dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550062 | ||||||
| chr12:111550062
|
CA | C | 37 | a0001c0001t0002g0225a0002c0002t0001g0035a0003c0004t0003g0088others(34): Show | 37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.571+2217delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550062 | ||||||
| chr12:111550078
|
A | G | 1 | a0001c0003t0001g0183 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.571+2202T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550078 | ||||||
| chr12:111550435
|
C | T | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.571+1845G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550435 | ||||||
| chr12:111550497
|
C | T | 1 | a0003c0005t0003g0201 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.571+1783G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550497 | ||||||
| chr12:111550628
|
A | G | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+1652T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550628 | ||||||
| chr12:111550984
|
G | C | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.571+1296C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550984 | ||||||
| chr12:111551069
|
C | T | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.571+1211G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551069 | ||||||
| chr12:111551264
|
TC | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+1015delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551264 | ||||||
| chr12:111551295
|
CA | C | 42 | a0001c0001t0002g0260a0001c0001t0004g0239a0001c0026t0001g0160others(39): Show | 42 | HG00099.hp1 HG01168.hp2 HG01169.hp2 others(39): Show |
intron_variant | MODIFIER | c.571+984delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551295 | ||||||
| chr12:111551432
|
A | G | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+848T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551432 | ||||||
| chr12:111551518
|
G | A | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+762C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551518 | ||||||
| chr12:111551669
|
G | A | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.571+611C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551669 | ||||||
| chr12:111551674
|
G | T | 4 | a0001c0001t0006g0235a0001c0001t0006g0265a0001c0001t0006g0267others(1): Show | 4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+606C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551674 | ||||||
| chr12:111551854
|
C | T | 129 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(126): Show | 129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.571+426G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551854 | ||||||
| chr12:111551887
|
C | CTT | 6 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(3): Show | 6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.571+391_571+392dup others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551887 | ||||||
| chr12:111551944
|
G | A | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+336C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551944 | ||||||
| chr12:111552167
|
C | T | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+113G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111552167 | ||||||
| chr12:111552175
|
C | A | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.571+105G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111552175 | ||||||
| chr12:111552540
|
T | C | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.421-110A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552540 | ||||||
| chr12:111552544
|
A | G | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.421-114T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552544 | ||||||
| chr12:111552814
|
A | C | 1 | a0001c0003t0001g0131 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.420+92T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552814 | ||||||
| chr12:111553445
|
A | C | 2 | a0001c0001t0002g0229a0001c0001t0006g0257 | 2 | HG03654.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.349-468T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553445 | ||||||
| chr12:111553461
|
C | T | 1 | a0006c0010t0003g0112 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.349-484G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553461 | ||||||
| chr12:111553478
|
C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.349-501G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553478 | ||||||
| chr12:111553481
|
T | C | 1 | a0001c0001t0006g0257 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.349-504A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553481 | ||||||
| chr12:111553572
|
C | CA | 17 | a0001c0001t0002g0233a0001c0001t0002g0252a0001c0001t0002g0254others(14): Show | 17 | HG00544.hp1 HG01361.hp1 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.348+585dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | ||||||
| chr12:111553572
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.348+575_348+585del others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | ||||||
| chr12:111553572
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.348+570_348+585del others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | ||||||
| chr12:111553573
|
A | C | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.348+585T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553573 | ||||||
| chr12:111553595
|
A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+563T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553595 | ||||||
| chr12:111553596
|
A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+562T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553596 | ||||||
| chr12:111553597
|
A | ATTTTTT | 8 | a0003c0007t0003g0114a0003c0007t0003g0117a0003c0007t0005g0116others(5): Show | 8 | HG01943.hp2 HG02280.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.348+560_348+561ins others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | ||||||
| chr12:111553597
|
A | ATTTTTTT | 5 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(2): Show | 5 | HG02630.hp1 HG02818.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+560_348+561ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | ||||||
| chr12:111553597
|
A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+561T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | ||||||
| chr12:111553598
|
A | ATTTTTTT | 3 | a0003c0004t0003g0099a0003c0004t0003g0110a0008c0023t0003g0119 | 3 | HG01169.hp2 HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.348+559_348+560ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553598 | ||||||
| chr12:111553598
|
A | T | 14 | a0001c0001t0004g0245a0003c0004t0003g0096a0003c0004t0003g0097others(11): Show | 14 | HG01943.hp2 HG02280.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.348+560T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553598 | ||||||
| chr12:111553599
|
A | ATTTTTTT others(1): Show |
10 | a0003c0004t0003g0094a0003c0004t0003g0098a0003c0004t0003g0100others(7): Show | 10 | HG01168.hp2 HG02280.hp2 HG02976.hp2 others(7): Show |
intron_variant | MODIFIER | c.348+558_348+559ins others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | ||||||
| chr12:111553599
|
A | ATTTTTTT others(3): Show |
1 | a0003c0004t0003g0104 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.348+558_348+559ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | ||||||
| chr12:111553599
|
A | T | 21 | a0001c0001t0004g0245a0001c0003t0001g0147a0003c0004t0003g0088others(18): Show | 21 | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(18): Show |
intron_variant | MODIFIER | c.348+559T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | ||||||
| chr12:111553600
|
A | ATTT | 5 | a0002c0002t0001g0079a0002c0002t0001g0080a0002c0002t0001g0081others(2): Show | 5 | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.348+557_348+558ins others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | ||||||
| chr12:111553600
|
A | ATTTTTTT others(2): Show |
5 | a0003c0004t0003g0093a0003c0004t0003g0095a0003c0004t0003g0102others(2): Show | 5 | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+557_348+558ins others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | ||||||
| chr12:111553600
|
A | T | 36 | a0001c0001t0004g0245a0001c0003t0001g0147a0003c0004t0003g0088others(33): Show | 36 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.348+558T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | ||||||
| chr12:111553601
|
A | ATTTT | 3 | a0002c0002t0001g0005a0002c0002t0001g0021a0002c0002t0001g0076 | 3 | HG02145.hp2 HG02622.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.348+556_348+557ins others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | ||||||
| chr12:111553601
|
A | ATTTTT | 44 | a0002c0002t0001g0006a0002c0002t0001g0010a0002c0002t0001g0011others(41): Show | 44 | HG00544.hp2 HG00597.hp1 HG01256.hp1 others(41): Show |
intron_variant | MODIFIER | c.348+556_348+557ins others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | ||||||
| chr12:111553601
|
A | ATTTTTTT others(3): Show |
1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.348+556_348+557ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | ||||||
| chr12:111553601
|
A | T | 51 | a0001c0001t0004g0245a0001c0003t0001g0147a0002c0002t0001g0035others(48): Show | 51 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(48): Show |
intron_variant | MODIFIER | c.348+557T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | ||||||
| chr12:111553602
|
A | ATTTT | 30 | a0001c0003t0001g0126a0001c0003t0001g0127a0001c0003t0001g0128others(27): Show | 30 | HG00099.hp1 HG02109.hp1 HG02132.hp1 others(27): Show |
intron_variant | MODIFIER | c.348+555_348+556ins others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | ||||||
| chr12:111553602
|
A | ATTTTTT | 20 | a0002c0002t0001g0017a0002c0002t0001g0032a0002c0002t0001g0038others(17): Show | 20 | HG01071.hp1 HG01123.hp1 HG01928.hp1 others(17): Show |
intron_variant | MODIFIER | c.348+555_348+556ins others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | ||||||
| chr12:111553602
|
A | T | 102 | a0001c0001t0004g0245a0001c0003t0001g0147a0001c0003t0001g0196others(99): Show | 102 | HG00544.hp2 HG00597.hp1 HG01168.hp2 others(99): Show |
intron_variant | MODIFIER | c.348+556T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | ||||||
| chr12:111553603
|
A | ATTTTT | 23 | a0001c0003t0001g0125a0001c0003t0001g0130a0001c0003t0001g0135others(20): Show | 23 | HG00642.hp2 HG01361.hp2 HG02027.hp2 others(20): Show |
intron_variant | MODIFIER | c.348+554_348+555ins others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553603 | ||||||
| chr12:111553603
|
A | T | 153 | a0001c0001t0004g0245a0001c0003t0001g0126a0001c0003t0001g0127others(150): Show | 153 | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(150): Show |
intron_variant | MODIFIER | c.348+555T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553603 | ||||||
| chr12:111553604
|
A | AAAAAAAT others(8): Show |
1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.348+553_348+554ins others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAAAAATT others(7): Show |
1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAAAATTT others(6): Show |
2 | a0001c0001t0004g0216a0001c0001t0004g0283 | 2 | HG02135.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.348+553_348+554ins others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAAATTTT others(3): Show |
1 | a0001c0001t0001g0007 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAAATTTT others(5): Show |
4 | a0001c0001t0002g0237a0001c0001t0004g0246a0001c0001t0004g0247others(1): Show | 4 | HG03710.hp1 NA18952.hp2 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAAATTTT others(6): Show |
1 | a0001c0001t0002g0228 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAATTTTT others(3): Show |
1 | a0001c0001t0004g0297 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAATTTTT others(4): Show |
8 | a0001c0001t0002g0223a0001c0001t0002g0236a0001c0001t0004g0227others(5): Show | 8 | HG02965.hp1 HG03098.hp1 HG03492.hp1 others(5): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AAATTTTT others(5): Show |
4 | a0001c0001t0002g0229a0001c0001t0002g0248a0001c0001t0002g0271others(1): Show | 4 | HG03195.hp2 HG03704.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AATTTTTT | 11 | a0001c0003t0001g0131a0001c0003t0001g0132a0001c0003t0001g0166others(8): Show | 11 | HG00597.hp2 HG02056.hp2 HG02129.hp2 others(8): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AATTTTTT others(3): Show |
5 | a0001c0001t0002g0222a0001c0001t0002g0238a0001c0001t0002g0266others(2): Show | 5 | HG02735.hp1 HG02735.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | AATTTTTT others(4): Show |
2 | a0001c0001t0002g0282a0001c0001t0006g0257 | 2 | HG03041.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.348+553_348+554ins others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | ATTTTTT | 15 | a0001c0003t0001g0124a0001c0003t0001g0129a0001c0003t0001g0133others(12): Show | 15 | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.348+548_348+553dup others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | ATTTTTTT others(3): Show |
3 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0253 | 3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.348+544_348+553dup others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553604
|
A | T | 179 | a0001c0001t0004g0245a0001c0003t0001g0125a0001c0003t0001g0126others(176): Show | 179 | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.348+554T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | ||||||
| chr12:111553605
|
T | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.348+553A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553605 | ||||||
| chr12:111553789
|
C | T | 71 | a0002c0002t0001g0006a0002c0002t0001g0010a0002c0002t0001g0011others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.348+369G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553789 | ||||||
| chr12:111553908
|
C | T | 1 | a0002c0002t0001g0028 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.348+250G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553908 | ||||||
| chr12:111554227
|
T | A | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.289-10A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554227 | ||||||
| chr12:111554274
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.289-57G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554274 | ||||||
| chr12:111554336
|
T | C | 6 | a0001c0003t0001g0142a0001c0003t0001g0148a0001c0003t0001g0176others(3): Show | 6 | HG01081.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.289-119A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554336 | ||||||
| chr12:111554397
|
C | T | 2 | a0001c0001t0004g0226a0001c0001t0004g0245 | 2 | NA18943.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.289-180G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554397 | ||||||
| chr12:111554702
|
G | A | 2 | a0002c0002t0001g0053a0002c0002t0001g0054 | 2 | HG01123.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.289-485C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554702 | ||||||
| chr12:111554791
|
A | G | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.289-574T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554791 | ||||||
| chr12:111555226
|
T | C | 1 | a0001c0003t0001g0135 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.288+657A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555226 | ||||||
| chr12:111555302
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.288+581C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555302 | ||||||
| chr12:111555316
|
A | G | 1 | a0001c0003t0001g0128 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.288+567T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555316 | ||||||
| chr12:111555571
|
T | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.288+312A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555571 | ||||||
| chr12:111555681
|
A | C | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.288+202T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555681 | ||||||
| chr12:111555716
|
C | CAT | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.288+166_288+167ins others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555716 | ||||||
| chr12:111555767
|
G | A | 3 | a0003c0005t0001g0203a0003c0005t0001g0204a0003c0005t0001g0205 | 3 | HG01243.hp1 HG02145.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.288+116C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555767 | ||||||
| chr12:111556082
|
A | G | 234 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(231): Show | 234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.252-163T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556082 | ||||||
| chr12:111556354
|
C | T | 1 | a0003c0006t0001g0211 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.252-435G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556354 | ||||||
| chr12:111556862
|
G | GA | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-944dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556862 | ||||||
| chr12:111556923
|
C | A | 2 | a0001c0001t0002g0280a0001c0001t0002g0298 | 2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.252-1004G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556923 | ||||||
| chr12:111557048
|
A | C | 65 | a0002c0002t0001g0010a0002c0002t0001g0011a0002c0002t0001g0012others(62): Show | 65 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(62): Show |
intron_variant | MODIFIER | c.252-1129T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557048 | ||||||
| chr12:111557219
|
T | C | 1 | a0001c0003t0001g0185 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.252-1300A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557219 | ||||||
| chr12:111557412
|
A | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-1493T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557412 | ||||||
| chr12:111557524
|
C | T | 1 | a0012c0022t0003g0118 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.252-1605G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557524 | ||||||
| chr12:111557674
|
C | T | 39 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(36): Show | 39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.252-1755G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557674 | ||||||
| chr12:111557811
|
T | C | 1 | a0002c0002t0001g0071 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.252-1892A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557811 | ||||||
| chr12:111557839
|
A | G | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.252-1920T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557839 | ||||||
| chr12:111557892
|
A | G | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-1973T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557892 | ||||||
| chr12:111558174
|
G | A | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.252-2255C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558174 | ||||||
| chr12:111558195
|
T | C | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.252-2276A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558195 | ||||||
| chr12:111558727
|
G | A | 1 | a0001c0003t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.252-2808C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558727 | ||||||
| chr12:111558753
|
T | C | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-2834A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558753 | ||||||
| chr12:111558952
|
T | TA | 253 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(250): Show | 253 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.252-3034dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558952 | ||||||
| chr12:111558952
|
T | TAA | 42 | a0001c0003t0001g0129a0002c0002t0001g0063a0003c0004t0003g0088others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.252-3035_252-3034d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558952 | ||||||
| chr12:111559136
|
G | GT | 20 | a0001c0001t0002g0276a0001c0001t0004g0283a0002c0002t0001g0049others(17): Show | 20 | HG01884.hp1 HG02055.hp2 HG02080.hp2 others(17): Show |
intron_variant | MODIFIER | c.252-3218dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559136 | ||||||
| chr12:111559136
|
G | T | 1 | a0001c0003t0001g0127 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.252-3217C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559136 | ||||||
| chr12:111559187
|
C | T | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.252-3268G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559187 | ||||||
| chr12:111559219
|
G | A | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-3300C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559219 | ||||||
| chr12:111559227
|
G | C | 1 | a0012c0022t0003g0118 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.252-3308C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559227 | ||||||
| chr12:111559349
|
T | A | 1 | a0003c0004t0003g0111 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.252-3430A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559349 | ||||||
| chr12:111559595
|
A | C | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.252-3676T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559595 | ||||||
| chr12:111559698
|
G | C | 85 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-3779C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559698 | ||||||
| chr12:111559777
|
C | CA | 7 | a0001c0001t0002g0221a0001c0003t0001g0139a0001c0003t0001g0191others(4): Show | 7 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-3859dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559777 | ||||||
| chr12:111559777
|
CA | C | 45 | a0002c0002t0001g0005a0002c0002t0001g0073a0002c0002t0001g0076others(42): Show | 45 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(42): Show |
intron_variant | MODIFIER | c.252-3859delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559777 | ||||||
| chr12:111559782
|
A | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-3863T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559782 | ||||||
| chr12:111559786
|
A | G | 1 | a0001c0001t0002g0217 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.252-3867T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559786 | ||||||
| chr12:111559963
|
A | C | 1 | a0001c0003t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.252-4044T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559963 | ||||||
| chr12:111560098
|
G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.252-4179C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560098 | ||||||
| chr12:111560343
|
A | T | 1 | a0003c0005t0001g0204 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.252-4424T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560343 | ||||||
| chr12:111560626
|
T | C | 2 | a0001c0001t0002g0242a0001c0003t0001g0141 | 2 | HG01943.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.252-4707A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560626 | ||||||
| chr12:111560767
|
A | AT | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.252-4849_252-4848i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560767 | ||||||
| chr12:111560950
|
C | T | 1 | a0003c0004t0003g0101 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.252-5031G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560950 | ||||||
| chr12:111560996
|
G | A | 4 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(1): Show | 4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-5077C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560996 | ||||||
| chr12:111561396
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-5477A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561396 | ||||||
| chr12:111561423
|
C | A | 1 | a0002c0002t0001g0053 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.252-5504G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561423 | ||||||
| chr12:111561495
|
C | T | 1 | a0001c0003t0001g0149 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.252-5576G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561495 | ||||||
| chr12:111561766
|
G | A | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-5847C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561766 | ||||||
| chr12:111562122
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6203G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562122 | ||||||
| chr12:111562162
|
A | G | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.252-6243T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562162 | ||||||
| chr12:111562199
|
T | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6280A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562199 | ||||||
| chr12:111562346
|
C | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-6427G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562346 | ||||||
| chr12:111562511
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6592C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562511 | ||||||
| chr12:111562720
|
C | CA | 14 | a0001c0001t0002g0229a0001c0001t0002g0234a0001c0001t0002g0256others(11): Show | 14 | HG01123.hp1 HG01361.hp1 HG02027.hp1 others(11): Show |
intron_variant | MODIFIER | c.252-6802dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | ||||||
| chr12:111562720
|
CA | C | 80 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0263others(77): Show | 80 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(77): Show |
intron_variant | MODIFIER | c.252-6802delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | ||||||
| chr12:111562720
|
CAA | C | 9 | a0001c0003t0001g0137a0001c0003t0001g0142a0001c0003t0001g0169others(6): Show | 9 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.252-6803_252-6802d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | ||||||
| chr12:111562720
|
CAAA | C | 38 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(35): Show | 38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.252-6804_252-6802d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | ||||||
| chr12:111562844
|
A | T | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-6925T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562844 | ||||||
| chr12:111563048
|
A | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.252-7129T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563048 | ||||||
| chr12:111563058
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-7139A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563058 | ||||||
| chr12:111563213
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-7294A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563213 | ||||||
| chr12:111563590
|
A | G | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-7671T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563590 | ||||||
| chr12:111563597
|
A | G | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-7678T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563597 | ||||||
| chr12:111563719
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-7800A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563719 | ||||||
| chr12:111563775
|
C | T | 2 | a0002c0002t0001g0048a0002c0002t0001g0050 | 2 | NA18969.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.252-7856G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563775 | ||||||
| chr12:111564007
|
T | C | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.252-8088A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564007 | ||||||
| chr12:111564022
|
T | C | 2 | a0003c0007t0003g0117a0003c0014t0003g0003 | 2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.252-8103A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564022 | ||||||
| chr12:111564485
|
GA | G | 88 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-8567delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564485 | ||||||
| chr12:111564485
|
GAA | G | 29 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(26): Show | 29 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(26): Show |
intron_variant | MODIFIER | c.252-8568_252-8567d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564485 | ||||||
| chr12:111564496
|
AAAG | A | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.252-8580_252-8578d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564496 | ||||||
| chr12:111564571
|
T | C | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.252-8652A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564571 | ||||||
| chr12:111564805
|
T | G | 1 | a0003c0004t0003g0103 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8886A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564805 | ||||||
| chr12:111564806
|
T | C | 1 | a0003c0004t0003g0103 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8887A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564806 | ||||||
| chr12:111564807
|
T | C | 1 | a0003c0004t0003g0103 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8888A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564807 | ||||||
| chr12:111564808
|
A | C | 1 | a0003c0004t0003g0103 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8889T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564808 | ||||||
| chr12:111564810
|
T | C | 4 | a0001c0003t0003g0172a0001c0003t0003g0173a0001c0003t0003g0174others(1): Show | 4 | HG01496.hp2 HG01952.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-8891A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564810 | ||||||
| chr12:111564875
|
G | A | 1 | a0001c0003t0001g0141 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.252-8956C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564875 | ||||||
| chr12:111564896
|
T | C | 2 | a0001c0001t0002g0273a0001c0001t0002g0291 | 2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.252-8977A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564896 | ||||||
| chr12:111564926
|
T | C | 2 | a0001c0001t0002g0220a0001c0001t0002g0234 | 2 | HG00408.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.252-9007A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564926 | ||||||
| chr12:111565102
|
A | G | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-9183T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565102 | ||||||
| chr12:111565104
|
T | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9185A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565104 | ||||||
| chr12:111565165
|
GA | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9247delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565165 | ||||||
| chr12:111565200
|
T | C | 1 | a0002c0002t0001g0072 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.252-9281A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565200 | ||||||
| chr12:111565287
|
A | G | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.252-9368T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565287 | ||||||
| chr12:111565294
|
G | A | 1 | a0001c0003t0001g0132 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.252-9375C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565294 | ||||||
| chr12:111565426
|
T | C | 1 | a0002c0002t0001g0055 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.252-9507A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565426 | ||||||
| chr12:111565546
|
T | C | 129 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(126): Show | 129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.252-9627A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565546 | ||||||
| chr12:111565579
|
G | T | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.252-9660C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565579 | ||||||
| chr12:111565869
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9950C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565869 | ||||||
| chr12:111565891
|
T | A | 4 | a0001c0003t0001g0162a0001c0003t0001g0165a0001c0026t0001g0160others(1): Show | 4 | HG00099.hp1 HG00642.hp2 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-9972A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565891 | ||||||
| chr12:111565967
|
C | T | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-10048G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565967 | ||||||
| chr12:111565995
|
CA | C | 10 | a0001c0001t0002g0219a0001c0001t0002g0253a0001c0001t0002g0284others(7): Show | 10 | HG01081.hp2 HG01167.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.252-10077delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565995 | ||||||
| chr12:111566127
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-10208A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566127 | ||||||
| chr12:111566235
|
C | T | 1 | a0004c0013t0001g0199 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.252-10316G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566235 | ||||||
| chr12:111566259
|
C | G | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.252-10340G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566259 | ||||||
| chr12:111566332
|
T | TGAGGCAG others(17): Show |
1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-10437_252-1041 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566332 | ||||||
| chr12:111566448
|
G | A | 1 | a0002c0002t0001g0038 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.252-10529C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566448 | ||||||
| chr12:111566448
|
G | GA | 205 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0290others(202): Show | 205 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(202): Show |
intron_variant | MODIFIER | c.252-10530dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566448 | ||||||
| chr12:111566592
|
G | A | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.252-10673C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566592 | ||||||
| chr12:111566638
|
C | CT | 6 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(3): Show | 6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.252-10720dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566638 | ||||||
| chr12:111566931
|
C | A | 1 | a0001c0001t0002g0228 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.252-11012G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566931 | ||||||
| chr12:111566992
|
G | A | 1 | a0001c0001t0002g0270 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.252-11073C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566992 | ||||||
| chr12:111567137
|
T | C | 1 | a0002c0002t0001g0076 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.252-11218A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567137 | ||||||
| chr12:111567224
|
G | A | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-11305C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567224 | ||||||
| chr12:111567228
|
G | A | 2 | a0002c0002t0001g0017a0002c0002t0001g0084 | 2 | HG01975.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.252-11309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567228 | ||||||
| chr12:111567266
|
T | C | 3 | a0003c0006t0003g0213a0006c0010t0003g0112a0012c0022t0003g0118 | 3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.252-11347A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567266 | ||||||
| chr12:111567415
|
A | C | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-11496T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567415 | ||||||
| chr12:111567606
|
G | A | 3 | a0003c0006t0003g0213a0006c0010t0003g0112a0012c0022t0003g0118 | 3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.252-11687C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567606 | ||||||
| chr12:111567683
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-11764C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567683 | ||||||
| chr12:111568059
|
A | C | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.252-12140T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568059 | ||||||
| chr12:111568118
|
G | A | 1 | a0003c0005t0003g0202 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.252-12199C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568118 | ||||||
| chr12:111568451
|
G | C | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.252-12532C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568451 | ||||||
| chr12:111568485
|
T | A | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-12566A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568485 | ||||||
| chr12:111568525
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-12606A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568525 | ||||||
| chr12:111568652
|
A | T | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.252-12733T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568652 | ||||||
| chr12:111568707
|
C | A | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-12788G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568707 | ||||||
| chr12:111568991
|
TTTTTG | T | 237 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0222others(234): Show | 237 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(234): Show |
intron_variant | MODIFIER | c.252-13077_252-1307 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568991 | ||||||
| chr12:111568991
|
TTTTTGTT others(3): Show |
T | 2 | a0001c0003t0001g0197a0020c0025t0001g0121 | 2 | NA18979.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.252-13082_252-1307 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568991 | ||||||
| chr12:111569244
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-13325A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569244 | ||||||
| chr12:111569248
|
A | T | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-13329T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569248 | ||||||
| chr12:111569501
|
AGTCCAGG others(16): Show |
A | 1 | a0001c0003t0001g0166 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-13605_252-1358 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569501 | ||||||
| chr12:111569535
|
G | C | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.252-13616C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569535 | ||||||
| chr12:111569536
|
C | T | 1 | a0002c0002t0001g0077 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.252-13617G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569536 | ||||||
| chr12:111569558
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-13639C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569558 | ||||||
| chr12:111569874
|
G | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.252-13955C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569874 | ||||||
| chr12:111569908
|
G | A | 2 | a0002c0002t0001g0005a0002c0002t0001g0076 | 2 | HG02145.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.252-13989C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569908 | ||||||
| chr12:111569952
|
C | T | 284 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(281): Show | 284 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(281): Show |
intron_variant | MODIFIER | c.252-14033G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569952 | ||||||
| chr12:111569975
|
G | A | 2 | a0003c0004t0003g0089a0003c0004t0005g0091 | 2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.252-14056C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569975 | ||||||
| chr12:111569981
|
G | A | 6 | a0001c0003t0001g0191a0001c0003t0001g0192a0001c0003t0001g0193others(3): Show | 6 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.252-14062C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569981 | ||||||
| chr12:111570005
|
G | C | 4 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(1): Show | 4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-14086C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570005 | ||||||
| chr12:111570006
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-14087T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570006 | ||||||
| chr12:111570007
|
T | C | 2 | a0002c0002t0001g0005a0002c0002t0001g0076 | 2 | HG02145.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.252-14088A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570007 | ||||||
| chr12:111570153
|
G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.252-14234C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570153 | ||||||
| chr12:111570438
|
C | T | 209 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.252-14519G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570438 | ||||||
| chr12:111570514
|
C | G | 1 | a0002c0002t0001g0051 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.252-14595G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570514 | ||||||
| chr12:111570895
|
G | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-14976C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570895 | ||||||
| chr12:111570906
|
T | C | 1 | a0002c0002t0001g0047 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.252-14987A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570906 | ||||||
| chr12:111571157
|
G | C | 3 | a0001c0001t0002g0231a0001c0001t0002g0249a0001c0001t0002g0253 | 3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.252-15238C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571157 | ||||||
| chr12:111571337
|
A | G | 1 | a0001c0003t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.252-15418T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571337 | ||||||
| chr12:111571387
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-15468T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571387 | ||||||
| chr12:111571413
|
GTTAAGTT others(9): Show |
G | 1 | a0002c0002t0001g0059 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.252-15510_252-1549 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571413 | ||||||
| chr12:111571458
|
G | C | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-15539C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571458 | ||||||
| chr12:111571464
|
T | C | 7 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(4): Show | 7 | HG02735.hp1 HG03017.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-15545A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571464 | ||||||
| chr12:111571610
|
G | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-15691C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571610 | ||||||
| chr12:111571725
|
A | C | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-15806T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571725 | ||||||
| chr12:111571943
|
C | G | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-16024G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571943 | ||||||
| chr12:111572011
|
C | CA | 7 | a0001c0001t0002g0228a0001c0001t0002g0231a0001c0001t0002g0248others(4): Show | 7 | HG02572.hp2 HG02897.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.252-16093dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | ||||||
| chr12:111572011
|
C | CAA | 7 | a0001c0001t0002g0253a0001c0003t0001g0129a0001c0003t0001g0130others(4): Show | 7 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-16094_252-1609 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | ||||||
| chr12:111572011
|
C | CAAA | 77 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0003t0001g0124others(74): Show | 77 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(74): Show |
intron_variant | MODIFIER | c.252-16095_252-1609 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | ||||||
| chr12:111572026
|
A | AG | 79 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(76): Show | 79 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(76): Show |
intron_variant | MODIFIER | c.252-16108dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572026 | ||||||
| chr12:111572027
|
G | A | 129 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(126): Show | 129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.252-16108C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572027 | ||||||
| chr12:111572231
|
T | A | 1 | a0001c0012t0001g0153 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.252-16312A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572231 | ||||||
| chr12:111572282
|
C | A | 1 | a0001c0003t0001g0151 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.252-16363G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572282 | ||||||
| chr12:111572294
|
G | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-16375C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572294 | ||||||
| chr12:111572401
|
C | CA | 84 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(81): Show | 84 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.252-16483dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572401 | ||||||
| chr12:111572477
|
G | A | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.252-16558C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572477 | ||||||
| chr12:111572511
|
A | C | 2 | a0002c0002t0001g0080a0002c0002t0001g0081 | 2 | HG02559.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.252-16592T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572511 | ||||||
| chr12:111572927
|
T | C | 2 | a0001c0003t0001g0133a0003c0005t0003g0201 | 2 | NA19081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.252-17008A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572927 | ||||||
| chr12:111573042
|
AT | A | 11 | a0001c0001t0002g0218a0001c0001t0002g0238a0001c0001t0002g0271others(8): Show | 11 | HG01258.hp1 HG01258.hp2 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.252-17124delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573042 | ||||||
| chr12:111573046
|
T | A | 211 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(208): Show | 211 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(208): Show |
intron_variant | MODIFIER | c.252-17127A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573046 | ||||||
| chr12:111573221
|
C | T | 2 | a0001c0003t0001g0133a0003c0005t0003g0201 | 2 | NA19081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.252-17302G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573221 | ||||||
| chr12:111573223
|
T | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-17304A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573223 | ||||||
| chr12:111573348
|
C | G | 8 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-17429G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573348 | ||||||
| chr12:111573533
|
A | G | 1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.252-17614T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573533 | ||||||
| chr12:111573582
|
C | G | 2 | a0002c0002t0001g0043a0002c0002t0001g0066 | 2 | HG01928.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.252-17663G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573582 | ||||||
| chr12:111573870
|
C | CT | 11 | a0001c0001t0004g0216a0001c0001t0004g0226a0001c0001t0004g0240others(8): Show | 11 | HG01993.hp2 HG02055.hp1 HG02135.hp1 others(8): Show |
intron_variant | MODIFIER | c.252-17952dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573870 | ||||||
| chr12:111573870
|
CT | C | 29 | a0001c0001t0002g0270a0002c0002t0001g0061a0003c0004t0003g0093others(26): Show | 29 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.252-17952delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573870 | ||||||
| chr12:111573986
|
T | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18067A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573986 | ||||||
| chr12:111574200
|
C | T | 1 | a0001c0012t0001g0188 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.252-18281G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574200 | ||||||
| chr12:111574263
|
G | A | 1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.252-18344C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574263 | ||||||
| chr12:111574308
|
C | CA | 93 | a0001c0001t0001g0007a0001c0001t0002g0225a0001c0001t0002g0233others(90): Show | 93 | HG00544.hp1 HG00597.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.252-18390dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | ||||||
| chr12:111574308
|
C | CAA | 16 | a0001c0001t0004g0216a0001c0001t0004g0227a0001c0001t0004g0246others(13): Show | 16 | HG00544.hp2 HG02129.hp1 HG02132.hp2 others(13): Show |
intron_variant | MODIFIER | c.252-18391_252-1839 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | ||||||
| chr12:111574308
|
CA | C | 36 | a0001c0003t0001g0134a0001c0003t0001g0155a0001c0003t0001g0187others(33): Show | 36 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.252-18390delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | ||||||
| chr12:111574380
|
T | C | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18461A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574380 | ||||||
| chr12:111574467
|
G | A | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-18548C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574467 | ||||||
| chr12:111574657
|
A | G | 1 | a0004c0013t0001g0198 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.252-18738T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574657 | ||||||
| chr12:111574682
|
C | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18763G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574682 | ||||||
| chr12:111575019
|
G | A | 2 | a0001c0001t0002g0228a0001c0001t0002g0248 | 2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-19100C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575019 | ||||||
| chr12:111575036
|
G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19117C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575036 | ||||||
| chr12:111575056
|
G | C | 1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.252-19137C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575056 | ||||||
| chr12:111575155
|
G | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19236C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575155 | ||||||
| chr12:111575195
|
A | T | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-19276T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575195 | ||||||
| chr12:111575262
|
T | C | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.252-19343A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575262 | ||||||
| chr12:111575320
|
G | A | 1 | a0003c0006t0001g0214 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.252-19401C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575320 | ||||||
| chr12:111575410
|
C | T | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.252-19491G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575410 | ||||||
| chr12:111575518
|
T | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.252-19599A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575518 | ||||||
| chr12:111575651
|
G | A | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-19732C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575651 | ||||||
| chr12:111575711
|
G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19792C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575711 | ||||||
| chr12:111575721
|
T | G | 1 | a0001c0001t0002g0258 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.252-19802A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575721 | ||||||
| chr12:111575933
|
T | C | 1 | a0001c0003t0001g0126 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.252-20014A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575933 | ||||||
| chr12:111576085
|
A | AATAAC | 15 | a0001c0003t0001g0124a0001c0003t0001g0139a0001c0003t0001g0141others(12): Show | 15 | HG00408.hp2 HG02027.hp2 HG02074.hp2 others(12): Show |
intron_variant | MODIFIER | c.252-20171_252-2016 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | ||||||
| chr12:111576085
|
A | AATAACAT others(3): Show |
4 | a0001c0003t0001g0138a0001c0003t0001g0151a0001c0003t0001g0179others(1): Show | 4 | HG03041.hp2 HG04115.hp2 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-20176_252-2016 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | ||||||
| chr12:111576085
|
A | AATAACAT others(8): Show |
2 | a0001c0001t0001g0008a0001c0003t0001g0192 | 2 | HG02257.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.252-20181_252-2016 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | ||||||
| chr12:111576085
|
AATAAC | A | 27 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0222others(24): Show | 27 | HG01071.hp2 HG01081.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.252-20171_252-2016 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | ||||||
| chr12:111576131
|
AT | A | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-20213delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576131 | ||||||
| chr12:111576132
|
T | TAACA | 11 | a0003c0004t0005g0086a0003c0004t0005g0109a0003c0004t0008g0215others(8): Show | 11 | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.252-20217_252-2021 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576132
|
T | TAACATAA others(2): Show |
4 | a0003c0004t0003g0093a0003c0004t0003g0111a0003c0004t0005g0087others(1): Show | 4 | HG02559.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576132
|
T | TAACATAA others(7): Show |
8 | a0003c0004t0003g0098a0003c0004t0003g0099a0003c0004t0003g0100others(5): Show | 8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576132
|
T | TAACATAA others(12): Show |
7 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(4): Show | 7 | HG02055.hp1 HG02486.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576132
|
T | TAACATAA others(17): Show |
6 | a0003c0004t0003g0094a0003c0004t0003g0096a0003c0004t0003g0103others(3): Show | 6 | HG02109.hp2 HG02572.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576132
|
T | TAACATAA others(22): Show |
1 | a0003c0004t0003g0097 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.252-20214_252-2021 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | ||||||
| chr12:111576133
|
A | C | 67 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0220others(64): Show | 67 | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.252-20214T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576133 | ||||||
| chr12:111576137
|
T | C | 67 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0220others(64): Show | 67 | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.252-20218A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(33): Show |
1 | a0002c0002t0001g0084 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.252-20219_252-2021 others(44): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(28): Show |
1 | a0002c0002t0001g0028 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.252-20219_252-2021 others(39): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(23): Show |
2 | a0002c0002t0001g0032a0002c0002t0001g0069 | 2 | HG03239.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.252-20219_252-2021 others(34): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(18): Show |
5 | a0002c0002t0001g0014a0002c0002t0001g0024a0002c0002t0001g0030others(2): Show | 5 | HG02074.hp1 NA18948.hp2 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(13): Show |
44 | a0002c0002t0001g0006a0002c0002t0001g0010a0002c0002t0001g0011others(41): Show | 44 | HG01071.hp1 HG01123.hp1 HG01256.hp1 others(41): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATAA others(8): Show |
16 | a0001c0001t0004g0283a0002c0002t0001g0013a0002c0002t0001g0035others(13): Show | 16 | HG00544.hp2 HG00597.hp1 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576137
|
T | TAACATCA others(3): Show |
10 | a0001c0001t0002g0282a0001c0001t0006g0267a0001c0003t0003g0173others(7): Show | 10 | HG01993.hp1 HG02040.hp1 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | ||||||
| chr12:111576140
|
C | A | 146 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0220others(143): Show | 146 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(143): Show |
intron_variant | MODIFIER | c.252-20221G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576140 | ||||||
| chr12:111576140
|
C | CACCAA | 22 | a0001c0001t0002g0217a0001c0001t0002g0225a0001c0001t0002g0233others(19): Show | 22 | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.252-20226_252-2022 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576140 | ||||||
| chr12:111576247
|
C | A | 71 | a0002c0002t0001g0006a0002c0002t0001g0010a0002c0002t0001g0011others(68): Show | 71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.252-20328G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576247 | ||||||
| chr12:111576546
|
C | T | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.252-20627G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576546 | ||||||
| chr12:111576697
|
C | T | 88 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(85): Show | 88 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.252-20778G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576697 | ||||||
| chr12:111576778
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-20859G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576778 | ||||||
| chr12:111576831
|
T | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-20912A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576831 | ||||||
| chr12:111576952
|
C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.252-21033G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576952 | ||||||
| chr12:111576981
|
C | T | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.252-21062G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576981 | ||||||
| chr12:111577038
|
C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-21119G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577038 | ||||||
| chr12:111577256
|
ATTAT | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-21341_252-2133 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577256 | ||||||
| chr12:111577262
|
T | A | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-21343A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577262 | ||||||
| chr12:111577297
|
G | A | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.252-21378C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577297 | ||||||
| chr12:111577351
|
C | T | 2 | a0001c0003t0001g0192a0001c0003t0001g0193 | 2 | HG02257.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.252-21432G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577351 | ||||||
| chr12:111577403
|
T | C | 3 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092 | 3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.251+21381A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577403 | ||||||
| chr12:111577427
|
G | A | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+21357C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577427 | ||||||
| chr12:111577455
|
C | T | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+21329G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577455 | ||||||
| chr12:111577517
|
G | A | 1 | a0003c0004t0003g0095 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.251+21267C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577517 | ||||||
| chr12:111577703
|
G | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.251+21081C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577703 | ||||||
| chr12:111577779
|
T | C | 1 | a0017c0024t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.251+21005A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577779 | ||||||
| chr12:111577815
|
C | G | 1 | a0001c0003t0001g0151 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.251+20969G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577815 | ||||||
| chr12:111578020
|
AC | A | 209 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(206): Show | 209 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(206): Show |
intron_variant | MODIFIER | c.251+20763delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578020 | ||||||
| chr12:111578165
|
C | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.251+20619G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578165 | ||||||
| chr12:111578180
|
G | A | 3 | a0003c0004t0005g0086a0003c0004t0005g0087a0007c0015t0005g0004 | 3 | HG01884.hp1 HG02976.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.251+20604C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578180 | ||||||
| chr12:111578212
|
A | C | 168 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(165): Show | 168 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(165): Show |
intron_variant | MODIFIER | c.251+20572T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578212 | ||||||
| chr12:111578395
|
G | T | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.251+20389C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578395 | ||||||
| chr12:111578623
|
A | T | 2 | a0001c0001t0002g0236a0001c0001t0002g0237 | 2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.251+20161T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578623 | ||||||
| chr12:111578720
|
C | A | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.251+20064G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578720 | ||||||
| chr12:111578828
|
C | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.251+19956G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578828 | ||||||
| chr12:111578858
|
T | C | 1 | a0007c0015t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.251+19926A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578858 | ||||||
| chr12:111579238
|
T | G | 1 | a0001c0003t0001g0128 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.251+19546A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579238 | ||||||
| chr12:111579285
|
G | A | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+19499C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579285 | ||||||
| chr12:111579316
|
G | A | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.251+19468C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579316 | ||||||
| chr12:111579355
|
C | T | 3 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092 | 3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.251+19429G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579355 | ||||||
| chr12:111579378
|
T | C | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+19406A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579378 | ||||||
| chr12:111579452
|
G | T | 3 | a0003c0006t0003g0213a0006c0010t0003g0112a0012c0022t0003g0118 | 3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.251+19332C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579452 | ||||||
| chr12:111579699
|
C | CT | 6 | a0001c0003t0001g0147a0001c0003t0001g0166a0002c0002t0001g0065others(3): Show | 6 | HG02970.hp1 HG03195.hp1 NA18981.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+19084dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579699 | ||||||
| chr12:111579758
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+19026C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579758 | ||||||
| chr12:111580014
|
G | T | 1 | a0001c0001t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.251+18770C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580014 | ||||||
| chr12:111580098
|
G | A | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.251+18686C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580098 | ||||||
| chr12:111580674
|
A | AG | 36 | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0234others(33): Show | 36 | HG00408.hp2 HG00642.hp1 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.251+18109dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580674 | ||||||
| chr12:111580749
|
A | G | 2 | a0001c0001t0002g0273a0001c0001t0002g0291 | 2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.251+18035T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580749 | ||||||
| chr12:111580750
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+18034T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580750 | ||||||
| chr12:111580790
|
G | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+17994C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580790 | ||||||
| chr12:111580849
|
G | A | 1 | a0001c0001t0002g0266 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.251+17935C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580849 | ||||||
| chr12:111580853
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+17931T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580853 | ||||||
| chr12:111581049
|
T | C | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+17735A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581049 | ||||||
| chr12:111581128
|
T | G | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.251+17656A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581128 | ||||||
| chr12:111581135
|
C | CA | 7 | a0001c0001t0002g0290a0001c0003t0001g0131a0001c0003t0003g0190others(4): Show | 7 | HG02080.hp2 HG02129.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.251+17648dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | ||||||
| chr12:111581135
|
CA | C | 16 | a0001c0001t0002g0243a0001c0001t0002g0259a0001c0003t0001g0158others(13): Show | 16 | HG01168.hp1 HG01884.hp2 HG01975.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+17648delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | ||||||
| chr12:111581135
|
CAA | C | 40 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(37): Show | 40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.251+17647_251+1764 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | ||||||
| chr12:111581307
|
T | C | 2 | a0003c0004t0003g0099a0003c0004t0003g0100 | 2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.251+17477A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581307 | ||||||
| chr12:111581709
|
T | C | 1 | a0001c0003t0001g0138 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.251+17075A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581709 | ||||||
| chr12:111581799
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+16985C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581799 | ||||||
| chr12:111581829
|
A | T | 1 | a0002c0002t0001g0061 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.251+16955T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581829 | ||||||
| chr12:111581830
|
T | C | 1 | a0001c0001t0002g0219 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.251+16954A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581830 | ||||||
| chr12:111581947
|
TA | T | 7 | a0001c0001t0002g0233a0001c0001t0002g0243a0001c0001t0002g0286others(4): Show | 7 | HG00544.hp1 HG01167.hp1 HG01168.hp1 others(4): Show |
intron_variant | MODIFIER | c.251+16836delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581947 | ||||||
| chr12:111581959
|
A | C | 2 | a0002c0002t0001g0039a0002c0002t0003g0034 | 2 | NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.251+16825T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581959 | ||||||
| chr12:111581978
|
C | A | 1 | a0001c0003t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.251+16806G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581978 | ||||||
| chr12:111581995
|
G | T | 88 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(85): Show | 88 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.251+16789C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581995 | ||||||
| chr12:111582172
|
T | C | 5 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(2): Show | 5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+16612A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582172 | ||||||
| chr12:111582191
|
G | A | 1 | a0015c0030t0001g0210 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.251+16593C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582191 | ||||||
| chr12:111582351
|
C | CAGA | 296 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(293): Show | 296 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(293): Show |
intron_variant | MODIFIER | c.251+16430_251+1643 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582351 | ||||||
| chr12:111582410
|
G | C | 209 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(206): Show | 209 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(206): Show |
intron_variant | MODIFIER | c.251+16374C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582410 | ||||||
| chr12:111582441
|
CA | C | 48 | a0001c0001t0002g0275a0001c0003t0001g0197a0002c0002t0001g0005others(45): Show | 48 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.251+16342delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582441 | ||||||
| chr12:111582705
|
G | A | 14 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.251+16079C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582705 | ||||||
| chr12:111582734
|
T | A | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.251+16050A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582734 | ||||||
| chr12:111582958
|
G | A | 2 | a0001c0001t0002g0273a0001c0001t0002g0291 | 2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.251+15826C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582958 | ||||||
| chr12:111582962
|
C | G | 3 | a0001c0003t0001g0134a0001c0003t0001g0187a0001c0012t0001g0153 | 3 | HG02071.hp1 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+15822G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582962 | ||||||
| chr12:111582977
|
GT | G | 9 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108others(6): Show | 9 | HG01884.hp1 HG01884.hp2 HG02970.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+15806delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582977 | ||||||
| chr12:111582988
|
T | G | 1 | a0003c0006t0003g0213 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.251+15796A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582988 | ||||||
| chr12:111582989
|
G | T | 12 | a0001c0003t0001g0167a0003c0006t0003g0213a0003c0007t0003g0114others(9): Show | 12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+15795C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582989 | ||||||
| chr12:111582993
|
G | GT | 6 | a0001c0003t0001g0141a0001c0003t0001g0157a0001c0003t0001g0169others(3): Show | 6 | HG02071.hp1 HG02074.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+15790dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | ||||||
| chr12:111582993
|
G | T | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15791C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | ||||||
| chr12:111582993
|
GT | G | 13 | a0001c0001t0002g0233a0001c0001t0002g0241a0001c0001t0002g0272others(10): Show | 13 | HG00544.hp1 HG01433.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+15790delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | ||||||
| chr12:111582993
|
GTT | G | 193 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(190): Show | 193 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(190): Show |
intron_variant | MODIFIER | c.251+15789_251+1579 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | ||||||
| chr12:111582995
|
T | G | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15789A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582995 | ||||||
| chr12:111582997
|
T | G | 1 | a0001c0003t0001g0132 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.251+15787A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582997 | ||||||
| chr12:111582999
|
T | G | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.251+15785A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582999 | ||||||
| chr12:111583000
|
T | G | 6 | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(3): Show | 6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+15784A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583000 | ||||||
| chr12:111583010
|
G | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15774C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583010 | ||||||
| chr12:111583014
|
A | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15770T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583014 | ||||||
| chr12:111583016
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15768T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583016 | ||||||
| chr12:111583022
|
T | C | 1 | a0002c0002t0001g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.251+15762A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583022 | ||||||
| chr12:111583023
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15761G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583023 | ||||||
| chr12:111583025
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15759A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583025 | ||||||
| chr12:111583027
|
C | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15757G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583027 | ||||||
| chr12:111583031
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15753G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583031 | ||||||
| chr12:111583049
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15735C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583049 | ||||||
| chr12:111583053
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15731G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583053 | ||||||
| chr12:111583054
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15730T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583054 | ||||||
| chr12:111583056
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15728T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583056 | ||||||
| chr12:111583087
|
G | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15697C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583087 | ||||||
| chr12:111583095
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15689G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583095 | ||||||
| chr12:111583101
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15683G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583101 | ||||||
| chr12:111583116
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15668A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583116 | ||||||
| chr12:111583117
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15667G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583117 | ||||||
| chr12:111583120
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15664C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583120 | ||||||
| chr12:111583124
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15660G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583124 | ||||||
| chr12:111583130
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15654G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583130 | ||||||
| chr12:111583136
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15648T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583136 | ||||||
| chr12:111583137
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15647A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583137 | ||||||
| chr12:111583138
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15646C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583138 | ||||||
| chr12:111583140
|
G | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15644C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583140 | ||||||
| chr12:111583165
|
T | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15619A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583165 | ||||||
| chr12:111583166
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15618G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583166 | ||||||
| chr12:111583167
|
T | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15617A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583167 | ||||||
| chr12:111583168
|
A | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15616T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583168 | ||||||
| chr12:111583181
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15603A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583181 | ||||||
| chr12:111583183
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15601T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583183 | ||||||
| chr12:111583190
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15594T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583190 | ||||||
| chr12:111583192
|
A | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15592T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583192 | ||||||
| chr12:111583199
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15585G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583199 | ||||||
| chr12:111583200
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15584G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583200 | ||||||
| chr12:111583205
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583205 | ||||||
| chr12:111583212
|
C | T | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15572G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583212 | ||||||
| chr12:111583215
|
T | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15569A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583215 | ||||||
| chr12:111583230
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15554T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583230 | ||||||
| chr12:111583234
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15550T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583234 | ||||||
| chr12:111583238
|
G | A | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15546C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583238 | ||||||
| chr12:111583242
|
C | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15542G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583242 | ||||||
| chr12:111583243
|
A | G | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15541T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583243 | ||||||
| chr12:111583253
|
A | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15531T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583253 | ||||||
| chr12:111583291
|
A | G | 1 | a0003c0004t0003g0096 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.251+15493T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583291 | ||||||
| chr12:111583482
|
A | G | 4 | a0003c0004t0003g0096a0003c0004t0003g0097a0003c0004t0003g0103others(1): Show | 4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+15302T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583482 | ||||||
| chr12:111583494
|
G | A | 1 | a0002c0002t0001g0038 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.251+15290C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583494 | ||||||
| chr12:111583521
|
G | A | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.251+15263C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583521 | ||||||
| chr12:111583583
|
T | C | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15201A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583583 | ||||||
| chr12:111583761
|
C | T | 9 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+15023G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583761 | ||||||
| chr12:111583766
|
C | CA | 146 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(143): Show | 146 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(143): Show |
intron_variant | MODIFIER | c.251+15017dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | ||||||
| chr12:111583766
|
C | CAA | 37 | a0001c0001t0002g0224a0001c0001t0002g0231a0001c0001t0002g0251others(34): Show | 37 | HG01071.hp1 HG01258.hp2 HG01361.hp1 others(34): Show |
intron_variant | MODIFIER | c.251+15016_251+1501 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | ||||||
| chr12:111583766
|
CA | C | 30 | a0001c0003t0001g0143a0001c0003t0001g0170a0001c0003t0001g0191others(27): Show | 30 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.251+15017delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | ||||||
| chr12:111583766
|
CAAAAAAA others(7): Show |
C | 2 | a0001c0003t0001g0134a0001c0012t0001g0153 | 2 | HG02071.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+15004_251+1501 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | ||||||
| chr12:111583916
|
G | A | 3 | a0001c0003t0001g0134a0001c0003t0001g0187a0001c0012t0001g0153 | 3 | HG02071.hp1 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+14868C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583916 | ||||||
| chr12:111584031
|
G | A | 1 | a0001c0001t0002g0242 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.251+14753C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584031 | ||||||
| chr12:111584085
|
TA | T | 43 | a0001c0001t0002g0241a0001c0003t0001g0171a0003c0004t0003g0088others(40): Show | 43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.251+14698delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584085 | ||||||
| chr12:111584145
|
A | G | 296 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(293): Show | 296 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(293): Show |
intron_variant | MODIFIER | c.251+14639T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584145 | ||||||
| chr12:111584345
|
A | G | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+14439T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584345 | ||||||
| chr12:111584374
|
T | A | 2 | a0002c0002t0001g0080a0002c0002t0001g0081 | 2 | HG02559.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.251+14410A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584374 | ||||||
| chr12:111584377
|
C | CA | 10 | a0001c0001t0001g0007a0001c0001t0002g0243a0001c0001t0002g0269others(7): Show | 10 | HG00642.hp2 HG01071.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+14406dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAA | 16 | a0001c0001t0001g0008a0001c0001t0002g0220a0001c0001t0002g0221others(13): Show | 16 | HG00408.hp1 HG01167.hp2 HG01433.hp2 others(13): Show |
intron_variant | MODIFIER | c.251+14405_251+1440 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAAA | 29 | a0001c0001t0002g0217a0001c0001t0002g0219a0001c0001t0002g0222others(26): Show | 29 | HG00099.hp2 HG01081.hp2 HG01169.hp1 others(26): Show |
intron_variant | MODIFIER | c.251+14404_251+1440 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAAAA | 25 | a0001c0001t0002g0223a0001c0001t0002g0224a0001c0001t0002g0229others(22): Show | 25 | HG01123.hp2 HG01928.hp2 HG01993.hp2 others(22): Show |
intron_variant | MODIFIER | c.251+14403_251+1440 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAAAAAAA others(4): Show |
2 | a0001c0001t0002g0287a0001c0001t0006g0265 | 2 | HG02965.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.251+14396_251+1440 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAAAAAAA others(5): Show |
3 | a0001c0001t0006g0235a0001c0001t0006g0267a0001c0001t0006g0279 | 3 | HG03098.hp1 NA19030.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.251+14395_251+1440 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
C | CAAAAAAA others(7): Show |
1 | a0001c0001t0002g0266 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.251+14393_251+1440 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CA | C | 55 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(52): Show | 55 | HG00408.hp2 HG00597.hp2 HG01167.hp1 others(52): Show |
intron_variant | MODIFIER | c.251+14406delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAA | C | 16 | a0002c0002t0001g0014a0002c0002t0001g0017a0002c0002t0001g0038others(13): Show | 16 | HG01243.hp2 HG02027.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.251+14403_251+1440 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAAA | C | 86 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(83): Show | 86 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(83): Show |
intron_variant | MODIFIER | c.251+14402_251+1440 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAAAA | C | 10 | a0002c0002t0001g0015a0002c0002t0001g0018a0002c0002t0001g0035others(7): Show | 10 | HG01975.hp1 HG02559.hp2 HG03540.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+14401_251+1440 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAAAAA others(3): Show |
C | 5 | a0001c0001t0002g0254a0001c0003t0001g0158a0003c0005t0001g0203others(2): Show | 5 | HG01243.hp1 HG02145.hp1 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+14397_251+1440 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAAAAA others(10): Show |
C | 6 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108others(3): Show | 6 | HG01884.hp1 HG02970.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+14390_251+1440 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584377
|
CAAAAAAA others(11): Show |
C | 1 | a0003c0004t0005g0087 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.251+14389_251+1440 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | ||||||
| chr12:111584548
|
G | C | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+14236C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584548 | ||||||
| chr12:111584691
|
C | T | 1 | a0002c0002t0001g0006 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.251+14093G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584691 | ||||||
| chr12:111585137
|
T | C | 1 | a0002c0002t0001g0065 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.251+13647A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585137 | ||||||
| chr12:111585197
|
A | G | 209 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(206): Show | 209 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(206): Show |
intron_variant | MODIFIER | c.251+13587T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585197 | ||||||
| chr12:111585207
|
A | G | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+13577T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585207 | ||||||
| chr12:111585263
|
G | A | 63 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(60): Show | 63 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.251+13521C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585263 | ||||||
| chr12:111585460
|
C | T | 1 | a0001c0003t0003g0154 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.251+13324G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585460 | ||||||
| chr12:111585518
|
A | G | 2 | a0001c0003t0001g0129a0003c0005t0001g0200 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.251+13266T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585518 | ||||||
| chr12:111585603
|
G | A | 2 | a0001c0003t0001g0155a0001c0003t0001g0156 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.251+13181C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585603 | ||||||
| chr12:111585712
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+13072C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585712 | ||||||
| chr12:111585733
|
C | T | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.251+13051G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585733 | ||||||
| chr12:111585801
|
C | CA | 93 | a0001c0001t0001g0008a0001c0001t0002g0219a0001c0001t0002g0221others(90): Show | 93 | HG00408.hp2 HG00544.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.251+12982dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | ||||||
| chr12:111585801
|
C | CAA | 39 | a0001c0001t0001g0007a0001c0001t0002g0254a0001c0001t0002g0273others(36): Show | 39 | HG00597.hp2 HG01993.hp2 HG02027.hp2 others(36): Show |
intron_variant | MODIFIER | c.251+12981_251+1298 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | ||||||
| chr12:111585801
|
CAAAAAAA others(3): Show |
C | 30 | a0001c0012t0001g0188a0003c0004t0003g0088a0003c0004t0003g0089others(27): Show | 30 | HG01884.hp1 HG01943.hp2 HG02055.hp1 others(27): Show |
intron_variant | MODIFIER | c.251+12973_251+1298 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | ||||||
| chr12:111585801
|
CAAAAAAA others(4): Show |
C | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+12972_251+1298 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | ||||||
| chr12:111585879
|
G | A | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+12905C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585879 | ||||||
| chr12:111585956
|
T | C | 3 | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108 | 3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.251+12828A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585956 | ||||||
| chr12:111585971
|
A | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+12813T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585971 | ||||||
| chr12:111586096
|
G | A | 2 | a0001c0003t0001g0155a0001c0003t0001g0156 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.251+12688C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586096 | ||||||
| chr12:111586219
|
C | CT | 12 | a0001c0001t0002g0234a0001c0001t0002g0241a0001c0001t0002g0259others(9): Show | 12 | HG00597.hp1 HG02148.hp1 HG03654.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+12564dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586219 | ||||||
| chr12:111586239
|
CAG | C | 3 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.251+12543_251+1254 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586239 | ||||||
| chr12:111586367
|
G | A | 80 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0010others(77): Show | 80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+12417C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586367 | ||||||
| chr12:111586388
|
G | GT | 81 | a0001c0001t0001g0007a0001c0001t0002g0218a0001c0001t0002g0219others(78): Show | 81 | HG00408.hp1 HG00642.hp2 HG01081.hp2 others(78): Show |
intron_variant | MODIFIER | c.251+12395dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586388 | ||||||
| chr12:111586388
|
GT | G | 42 | a0001c0003t0001g0149a0001c0003t0001g0151a0001c0003t0001g0191others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+12395delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586388 | ||||||
| chr12:111586397
|
T | G | 4 | a0003c0004t0003g0095a0003c0004t0003g0102a0003c0004t0005g0091others(1): Show | 4 | HG02055.hp1 HG02055.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+12387A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586397 | ||||||
| chr12:111586398
|
T | G | 37 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(34): Show | 37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.251+12386A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586398 | ||||||
| chr12:111586580
|
G | T | 88 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(85): Show | 88 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.251+12204C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586580 | ||||||
| chr12:111586677
|
C | T | 1 | a0003c0004t0003g0093 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.251+12107G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586677 | ||||||
| chr12:111586689
|
T | C | 1 | a0001c0001t0003g0009 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.251+12095A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586689 | ||||||
| chr12:111586700
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+12084G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586700 | ||||||
| chr12:111586741
|
G | A | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.251+12043C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586741 | ||||||
| chr12:111586811
|
G | A | 1 | a0001c0003t0001g0149 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.251+11973C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586811 | ||||||
| chr12:111587073
|
C | CA | 89 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(86): Show | 89 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(86): Show |
intron_variant | MODIFIER | c.251+11710dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | ||||||
| chr12:111587073
|
C | CAA | 7 | a0001c0001t0002g0228a0001c0001t0002g0261a0001c0001t0004g0283others(4): Show | 7 | HG01167.hp1 HG03486.hp1 HG03579.hp1 others(4): Show |
intron_variant | MODIFIER | c.251+11709_251+1171 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | ||||||
| chr12:111587073
|
CAAA | C | 40 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(37): Show | 40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.251+11708_251+1171 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | ||||||
| chr12:111587083
|
A | C | 1 | a0002c0002t0001g0005 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.251+11701T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587083 | ||||||
| chr12:111587160
|
C | T | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.251+11624G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587160 | ||||||
| chr12:111587224
|
C | T | 2 | a0001c0001t0002g0280a0001c0001t0002g0298 | 2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.251+11560G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587224 | ||||||
| chr12:111587320
|
T | C | 1 | a0001c0001t0006g0257 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.251+11464A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587320 | ||||||
| chr12:111587355
|
C | T | 1 | a0002c0002t0001g0053 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.251+11429G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587355 | ||||||
| chr12:111587534
|
T | C | 1 | a0003c0004t0005g0109 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.251+11250A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587534 | ||||||
| chr12:111587671
|
T | A | 87 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(84): Show | 87 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(84): Show |
intron_variant | MODIFIER | c.251+11113A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587671 | ||||||
| chr12:111588090
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+10694C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588090 | ||||||
| chr12:111588094
|
G | T | 1 | a0014c0020t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.251+10690C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588094 | ||||||
| chr12:111588112
|
G | A | 1 | a0001c0001t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.251+10672C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588112 | ||||||
| chr12:111588188
|
A | AAAAT | 84 | a0001c0001t0002g0225a0001c0001t0002g0241a0001c0001t0002g0281others(81): Show | 84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.251+10592_251+1059 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | ||||||
| chr12:111588188
|
A | AAAATAAA others(1): Show |
15 | a0002c0002t0001g0013a0002c0002t0001g0037a0002c0002t0001g0074others(12): Show | 15 | HG01433.hp1 HG01884.hp1 HG01943.hp2 others(12): Show |
intron_variant | MODIFIER | c.251+10588_251+1059 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | ||||||
| chr12:111588188
|
A | AAAATAAA others(5): Show |
20 | a0003c0004t0003g0095a0003c0004t0003g0096a0003c0004t0003g0097others(17): Show | 20 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.251+10584_251+1059 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | ||||||
| chr12:111588188
|
A | AAAATAAA others(9): Show |
2 | a0003c0004t0003g0092a0003c0004t0003g0094 | 2 | HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.251+10580_251+1059 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | ||||||
| chr12:111588188
|
AAAATAAA others(1): Show |
A | 21 | a0001c0001t0002g0222a0001c0001t0004g0216a0001c0001t0004g0226others(18): Show | 21 | HG01993.hp2 HG02109.hp1 HG02135.hp1 others(18): Show |
intron_variant | MODIFIER | c.251+10588_251+1059 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | ||||||
| chr12:111588465
|
T | C | 3 | a0001c0008t0007g0145a0001c0008t0007g0146a0001c0008t0007g0184 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.251+10319A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588465 | ||||||
| chr12:111588579
|
A | G | 209 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(206): Show | 209 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(206): Show |
intron_variant | MODIFIER | c.251+10205T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588579 | ||||||
| chr12:111588729
|
T | C | 1 | a0001c0003t0001g0165 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.251+10055A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588729 | ||||||
| chr12:111588867
|
C | T | 1 | a0001c0003t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.251+9917G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588867 | ||||||
| chr12:111588991
|
C | CA | 10 | a0001c0001t0003g0009a0001c0001t0006g0235a0001c0001t0006g0265others(7): Show | 10 | HG02145.hp1 HG02258.hp1 HG02897.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+9792dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAA | 10 | a0001c0001t0001g0008a0001c0001t0002g0223a0001c0001t0002g0238others(7): Show | 10 | HG01123.hp2 HG01361.hp2 HG02523.hp2 others(7): Show |
intron_variant | MODIFIER | c.251+9791_251+9792d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAA | 28 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0224others(25): Show | 28 | HG01071.hp2 HG01168.hp1 HG01256.hp2 others(25): Show |
intron_variant | MODIFIER | c.251+9790_251+9792d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAA | 24 | a0001c0001t0002g0219a0001c0001t0002g0221a0001c0001t0002g0225others(21): Show | 24 | HG01081.hp2 HG01258.hp2 HG01361.hp1 others(21): Show |
intron_variant | MODIFIER | c.251+9789_251+9792d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAA | 16 | a0001c0001t0002g0233a0001c0001t0002g0248a0001c0001t0002g0258others(13): Show | 16 | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+9788_251+9792d others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(3): Show |
2 | a0001c0001t0002g0222a0002c0002t0001g0069 | 2 | HG02735.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.251+9783_251+9792d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.251+9782_251+9792d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(6): Show |
2 | a0002c0002t0001g0052a0002c0002t0001g0078 | 2 | HG00544.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.251+9780_251+9792d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(7): Show |
2 | a0002c0002t0001g0053a0002c0002t0001g0062 | 2 | HG01123.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.251+9779_251+9792d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(8): Show |
4 | a0002c0002t0001g0038a0002c0002t0001g0039a0002c0002t0001g0071others(1): Show | 4 | HG02027.hp1 NA18981.hp1 NA18991.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+9778_251+9792d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(9): Show |
3 | a0002c0002t0001g0063a0002c0002t0001g0068a0002c0016t0001g0057 | 3 | NA18948.hp2 NA18964.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.251+9777_251+9792d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(10): Show |
2 | a0002c0002t0001g0054a0002c0002t0001g0064 | 2 | HG02273.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.251+9776_251+9792d others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(11): Show |
2 | a0002c0002t0001g0055a0002c0002t0001g0056 | 2 | HG02129.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.251+9775_251+9792d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(12): Show |
2 | a0002c0002t0001g0010a0002c0002t0001g0065 | 2 | NA18951.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.251+9774_251+9792d others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(13): Show |
5 | a0002c0002t0001g0015a0002c0002t0001g0020a0002c0002t0001g0021others(2): Show | 5 | NA18946.hp1 NA18968.hp1 NA18994.hp2 others(2): Show |
intron_variant | MODIFIER | c.251+9773_251+9792d others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(14): Show |
11 | a0002c0002t0001g0011a0002c0002t0001g0014a0002c0002t0001g0016others(8): Show | 11 | HG02132.hp2 NA18952.hp1 NA18974.hp2 others(8): Show |
intron_variant | MODIFIER | c.251+9772_251+9792d others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(15): Show |
1 | a0002c0002t0001g0027 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.251+9771_251+9792d others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(16): Show |
2 | a0002c0002t0001g0017a0002c0002t0001g0073 | 2 | NA18959.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.251+9770_251+9792d others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(18): Show |
1 | a0002c0002t0001g0018 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.251+9768_251+9792d others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(19): Show |
2 | a0002c0002t0001g0031a0002c0002t0001g0082 | 2 | NA18984.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.251+9767_251+9792d others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(20): Show |
2 | a0002c0002t0001g0012a0002c0002t0001g0074 | 2 | NA18955.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.251+9766_251+9792d others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
C | CAAAAAAA others(23): Show |
1 | a0002c0002t0001g0061 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.251+9763_251+9792d others(32): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CA | C | 37 | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(34): Show | 37 | HG00408.hp2 HG00597.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.251+9792delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAA | C | 19 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(16): Show | 19 | HG01167.hp1 HG01256.hp1 HG01258.hp1 others(16): Show |
intron_variant | MODIFIER | c.251+9791_251+9792d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAA | C | 13 | a0001c0001t0002g0220a0001c0003t0001g0142a0001c0003t0001g0148others(10): Show | 13 | HG00408.hp1 HG01081.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+9790_251+9792d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA | C | 8 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(5): Show | 8 | HG01884.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.251+9786_251+9792d others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA others(4): Show |
C | 2 | a0001c0001t0004g0245a0002c0002t0001g0032 | 2 | HG03239.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.251+9782_251+9792d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA others(5): Show |
C | 4 | a0001c0001t0002g0250a0003c0004t0003g0103a0003c0004t0005g0086others(1): Show | 4 | HG00099.hp2 HG01243.hp2 HG01884.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+9781_251+9792d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA others(6): Show |
C | 38 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(35): Show | 38 | HG01168.hp2 HG01169.hp2 HG01943.hp2 others(35): Show |
intron_variant | MODIFIER | c.251+9780_251+9792d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA others(7): Show |
C | 1 | a0002c0002t0003g0075 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.251+9779_251+9792d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111588991
|
CAAAAAAA others(9): Show |
C | 2 | a0001c0001t0002g0275a0001c0001t0002g0277 | 2 | NA18986.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.251+9777_251+9792d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | ||||||
| chr12:111589018
|
A | C | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.251+9766T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589018 | ||||||
| chr12:111589025
|
C | A | 1 | a0002c0016t0001g0057 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.251+9759G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589025 | ||||||
| chr12:111589026
|
T | A | 1 | a0002c0016t0001g0057 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.251+9758A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589026 | ||||||
| chr12:111589030
|
C | A | 1 | a0001c0001t0002g0220 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.251+9754G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589030 | ||||||
| chr12:111589192
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+9592C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589192 | ||||||
| chr12:111589210
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+9574C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589210 | ||||||
| chr12:111589263
|
C | T | 3 | a0001c0001t0002g0262a0001c0001t0002g0284a0001c0001t0002g0285 | 3 | HG01167.hp2 HG01169.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.251+9521G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589263 | ||||||
| chr12:111589299
|
G | A | 1 | a0002c0002t0001g0062 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.251+9485C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589299 | ||||||
| chr12:111589591
|
A | G | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9193T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589591 | ||||||
| chr12:111589593
|
A | G | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9191T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589593 | ||||||
| chr12:111589609
|
C | A | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9175G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589609 | ||||||
| chr12:111589612
|
T | A | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9172A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589612 | ||||||
| chr12:111589625
|
A | T | 1 | a0003c0007t0003g0117 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9159T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589625 | ||||||
| chr12:111589649
|
A | ATAATCCC others(435): Show |
38 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(35): Show | 38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.251+8693_251+9134d others(444): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589649 | ||||||
| chr12:111589953
|
T | C | 1 | a0001c0003t0001g0196 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.251+8831A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589953 | ||||||
| chr12:111589964
|
C | T | 3 | a0002c0002t0001g0042a0002c0002t0001g0059a0002c0002t0001g0073 | 3 | NA18959.hp1 NA18974.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.251+8820G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589964 | ||||||
| chr12:111589984
|
C | T | 1 | a0001c0001t0002g0237 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.251+8800G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589984 | ||||||
| chr12:111590069
|
C | G | 1 | a0001c0003t0001g0147 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.251+8715G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590069 | ||||||
| chr12:111590301
|
G | T | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.251+8483C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590301 | ||||||
| chr12:111590688
|
A | AAAAAAAA others(5): Show |
41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+8095_251+8096i others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590688 | ||||||
| chr12:111590826
|
A | T | 3 | a0001c0008t0007g0145a0001c0008t0007g0146a0001c0008t0007g0184 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.251+7958T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590826 | ||||||
| chr12:111591104
|
T | C | 12 | a0003c0006t0003g0213a0003c0007t0003g0114a0003c0007t0003g0117others(9): Show | 12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+7680A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591104 | ||||||
| chr12:111591123
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7661A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591123 | ||||||
| chr12:111591258
|
C | T | 1 | a0002c0002t0001g0081 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.251+7526G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591258 | ||||||
| chr12:111591364
|
T | TTAAAAA | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7414_251+7419d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591364 | ||||||
| chr12:111591456
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7328C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591456 | ||||||
| chr12:111591487
|
T | C | 83 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(80): Show | 83 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.251+7297A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591487 | ||||||
| chr12:111591756
|
T | TTTG | 84 | a0001c0001t0002g0238a0001c0003t0001g0166a0001c0003t0001g0170others(81): Show | 84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.251+7025_251+7027d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591756 | ||||||
| chr12:111591775
|
T | C | 1 | a0001c0001t0006g0279 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.251+7009A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591775 | ||||||
| chr12:111591810
|
G | A | 5 | a0001c0001t0002g0259a0001c0001t0002g0260a0001c0001t0002g0261others(2): Show | 5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.251+6974C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591810 | ||||||
| chr12:111591844
|
G | C | 1 | a0003c0004t0003g0092 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.251+6940C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591844 | ||||||
| chr12:111592077
|
C | CA | 42 | a0001c0001t0002g0243a0001c0001t0004g0283a0001c0003t0001g0197others(39): Show | 42 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+6706dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592077 | ||||||
| chr12:111592077
|
C | CAA | 6 | a0003c0004t0003g0102a0003c0004t0003g0103a0003c0004t0003g0105others(3): Show | 6 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+6705_251+6706d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592077 | ||||||
| chr12:111592112
|
G | C | 2 | a0002c0002t0001g0063a0002c0002t0001g0068 | 2 | NA18948.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.251+6672C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592112 | ||||||
| chr12:111592429
|
T | C | 1 | a0001c0003t0001g0167 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+6355A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592429 | ||||||
| chr12:111592599
|
A | G | 1 | a0003c0007t0003g0114 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.251+6185T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592599 | ||||||
| chr12:111592641
|
G | C | 1 | a0001c0001t0002g0241 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.251+6143C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592641 | ||||||
| chr12:111592702
|
G | A | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+6082C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592702 | ||||||
| chr12:111592722
|
G | A | 1 | a0002c0002t0001g0081 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.251+6062C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592722 | ||||||
| chr12:111592741
|
C | T | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+6043G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592741 | ||||||
| chr12:111592742
|
C | T | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+6042G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592742 | ||||||
| chr12:111592758
|
G | C | 1 | a0002c0002t0001g0058 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.251+6026C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592758 | ||||||
| chr12:111592782
|
C | CA | 9 | a0001c0003t0001g0128a0001c0003t0001g0138a0001c0003t0001g0139others(6): Show | 9 | HG00597.hp2 HG02027.hp2 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+6001dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAA | 10 | a0001c0001t0004g0226a0001c0001t0004g0227a0001c0001t0004g0240others(7): Show | 10 | HG01993.hp2 HG03492.hp1 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+5999_251+6001d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA | 12 | a0001c0001t0002g0228a0001c0001t0002g0248a0001c0003t0001g0183others(9): Show | 12 | HG00597.hp1 HG02132.hp2 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+5995_251+6001d others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(1): Show |
43 | a0001c0003t0001g0171a0002c0002t0001g0011a0002c0002t0001g0012others(40): Show | 43 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(40): Show |
intron_variant | MODIFIER | c.251+5994_251+6001d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(2): Show |
13 | a0002c0002t0001g0013a0002c0002t0001g0028a0002c0002t0001g0029others(10): Show | 13 | HG01433.hp1 HG01952.hp1 HG02074.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+5993_251+6001d others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(3): Show |
22 | a0002c0002t0001g0063a0002c0002t0001g0068a0002c0002t0001g0074others(19): Show | 22 | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.251+5992_251+6001d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(4): Show |
13 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(10): Show | 13 | HG01258.hp2 HG01943.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.251+5991_251+6001d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(5): Show |
6 | a0003c0004t0003g0092a0003c0004t0005g0091a0003c0004t0005g0109others(3): Show | 6 | HG01243.hp2 HG02055.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+5990_251+6001d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(6): Show |
1 | a0008c0023t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.251+5989_251+6001d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(7): Show |
2 | a0001c0001t0002g0229a0003c0004t0003g0093 | 2 | HG02559.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.251+5988_251+6001d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(8): Show |
1 | a0001c0001t0002g0249 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.251+5987_251+6001d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(9): Show |
27 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(24): Show | 27 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(24): Show |
intron_variant | MODIFIER | c.251+5986_251+6001d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(10): Show |
23 | a0001c0001t0002g0221a0001c0001t0002g0234a0001c0001t0002g0236others(20): Show | 23 | HG00642.hp1 HG01071.hp2 HG01123.hp2 others(20): Show |
intron_variant | MODIFIER | c.251+5985_251+6001d others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(11): Show |
9 | a0001c0001t0002g0237a0001c0001t0002g0238a0001c0001t0002g0277others(6): Show | 9 | HG01884.hp2 HG02056.hp1 HG02148.hp2 others(6): Show |
intron_variant | MODIFIER | c.251+5984_251+6001d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(12): Show |
3 | a0001c0001t0002g0280a0001c0001t0002g0286a0001c0001t0002g0287 | 3 | HG02080.hp1 NA19056.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.251+5983_251+6001d others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(13): Show |
1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.251+5982_251+6001d others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(18): Show |
1 | a0001c0001t0002g0281 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.251+6001_251+6002i others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(21): Show |
2 | a0001c0001t0002g0241a0001c0001t0002g0282 | 2 | HG03041.hp1 NA18941.hp2 |
intron_variant | MODIFIER | c.251+6001_251+6002i others(30): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
C | CAAAAAAA others(32): Show |
1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.251+6001_251+6002i others(41): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592782
|
CAAAAAAA others(1): Show |
C | 6 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(3): Show | 6 | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+5994_251+6001d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | ||||||
| chr12:111592844
|
G | A | 42 | a0001c0001t0004g0216a0003c0004t0003g0088a0003c0004t0003g0089others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+5940C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592844 | ||||||
| chr12:111592874
|
TA | T | 42 | a0002c0002t0001g0030a0003c0004t0003g0088a0003c0004t0003g0089others(39): Show | 42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+5909delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592874 | ||||||
| chr12:111592914
|
CACA | C | 9 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+5867_251+5869d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592914 | ||||||
| chr12:111593169
|
G | A | 2 | a0005c0009t0001g0001a0005c0009t0001g0002 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.251+5615C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593169 | ||||||
| chr12:111593307
|
C | G | 1 | a0001c0003t0001g0144 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.251+5477G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593307 | ||||||
| chr12:111593610
|
TA | T | 47 | a0001c0001t0002g0243a0001c0003t0001g0142a0001c0003t0001g0143others(44): Show | 47 | HG01167.hp1 HG01168.hp1 HG01168.hp2 others(44): Show |
intron_variant | MODIFIER | c.251+5173delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593610 | ||||||
| chr12:111593618
|
A | G | 26 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(23): Show | 26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.251+5166T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593618 | ||||||
| chr12:111593724
|
G | A | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+5060C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593724 | ||||||
| chr12:111593914
|
G | A | 2 | a0004c0013t0001g0198a0004c0013t0001g0199 | 2 | NA18942.hp1 NA18991.hp2 |
intron_variant | MODIFIER | c.251+4870C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593914 | ||||||
| chr12:111594005
|
C | T | 1 | a0002c0002t0001g0066 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.251+4779G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594005 | ||||||
| chr12:111594134
|
C | T | 1 | a0001c0001t0002g0242 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.251+4650G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594134 | ||||||
| chr12:111594161
|
C | A | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.251+4623G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594161 | ||||||
| chr12:111594342
|
A | AT | 16 | a0001c0001t0002g0290a0003c0004t0003g0088a0003c0004t0003g0089others(13): Show | 16 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+4441dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594342 | ||||||
| chr12:111594766
|
T | C | 2 | a0001c0001t0002g0284a0001c0001t0002g0285 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.251+4018A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594766 | ||||||
| chr12:111595056
|
C | A | 1 | a0001c0003t0003g0140 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+3728G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595056 | ||||||
| chr12:111595106
|
C | G | 1 | a0002c0002t0001g0038 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.251+3678G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595106 | ||||||
| chr12:111595188
|
C | A | 1 | a0002c0002t0001g0064 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.251+3596G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595188 | ||||||
| chr12:111595248
|
A | G | 1 | a0003c0004t0003g0110 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.251+3536T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595248 | ||||||
| chr12:111595413
|
G | A | 2 | a0002c0002t0001g0030a0002c0002t0001g0031 | 2 | NA18994.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.251+3371C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595413 | ||||||
| chr12:111595520
|
T | C | 4 | a0001c0001t0002g0286a0001c0001t0002g0287a0001c0001t0002g0288others(1): Show | 4 | NA18948.hp1 NA19056.hp1 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+3264A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595520 | ||||||
| chr12:111595640
|
C | CA | 79 | a0001c0001t0002g0237a0001c0001t0002g0238a0001c0001t0002g0290others(76): Show | 79 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(76): Show |
intron_variant | MODIFIER | c.251+3143dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595640 | ||||||
| chr12:111595640
|
CA | C | 6 | a0001c0001t0002g0222a0001c0001t0002g0241a0001c0001t0004g0239others(3): Show | 6 | HG01993.hp2 HG02735.hp1 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+3143delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595640 | ||||||
| chr12:111595730
|
A | G | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.251+3054T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595730 | ||||||
| chr12:111595797
|
TGCCTGTA others(131): Show |
T | 12 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(9): Show | 12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+2849_251+2986d others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595797 | ||||||
| chr12:111595996
|
G | A | 1 | a0001c0001t0003g0009 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.251+2788C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595996 | ||||||
| chr12:111596023
|
T | C | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+2761A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596023 | ||||||
| chr12:111596205
|
A | AAC | 17 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(14): Show | 17 | HG00408.hp1 HG01496.hp1 HG02027.hp2 others(14): Show |
intron_variant | MODIFIER | c.251+2577_251+2578d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
A | AACAC | 45 | a0001c0003t0001g0142a0001c0003t0001g0143a0001c0003t0001g0144others(42): Show | 45 | HG00099.hp1 HG01081.hp1 HG01167.hp1 others(42): Show |
intron_variant | MODIFIER | c.251+2575_251+2578d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
A | AACACAC | 49 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(46): Show | 49 | HG00544.hp2 HG00597.hp1 HG01123.hp1 others(46): Show |
intron_variant | MODIFIER | c.251+2573_251+2578d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
A | AACACACA others(1): Show |
9 | a0001c0003t0001g0125a0001c0003t0001g0126a0001c0003t0001g0127others(6): Show | 9 | HG01071.hp1 HG01975.hp1 HG02132.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+2571_251+2578d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
A | AACACACA others(3): Show |
20 | a0001c0003t0001g0124a0002c0002t0001g0014a0002c0002t0001g0015others(17): Show | 20 | HG02132.hp2 HG02155.hp2 NA18941.hp1 others(17): Show |
intron_variant | MODIFIER | c.251+2569_251+2578d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
A | AACACACA others(5): Show |
4 | a0002c0002t0001g0010a0002c0002t0001g0011a0002c0002t0001g0012others(1): Show | 4 | HG01433.hp1 NA18951.hp2 NA18955.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+2567_251+2578d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
AAC | A | 74 | a0001c0001t0002g0219a0001c0001t0002g0241a0001c0001t0002g0242others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG01071.hp2 others(71): Show |
intron_variant | MODIFIER | c.251+2577_251+2578d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
AACACACA others(3): Show |
A | 12 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(9): Show | 12 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+2569_251+2578d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596205
|
AACACACA others(5): Show |
A | 28 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(25): Show | 28 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(25): Show |
intron_variant | MODIFIER | c.251+2567_251+2578d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | ||||||
| chr12:111596373
|
T | TCA | 163 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(160): Show | 163 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(160): Show |
intron_variant | MODIFIER | c.251+2409_251+2410d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596373 | ||||||
| chr12:111596373
|
T | TCACA | 46 | a0001c0001t0004g0293a0001c0001t0004g0294a0001c0001t0004g0295others(43): Show | 46 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.251+2407_251+2410d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596373 | ||||||
| chr12:111596671
|
C | T | 3 | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219 | 3 | HG01081.hp2 HG01496.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.251+2113G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596671 | ||||||
| chr12:111596766
|
C | G | 1 | a0002c0002t0001g0006 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.251+2018G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596766 | ||||||
| chr12:111596904
|
C | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.251+1880G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596904 | ||||||
| chr12:111596942
|
T | C | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+1842A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596942 | ||||||
| chr12:111596949
|
T | TG | 41 | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+1834_251+1835i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596949 | ||||||
| chr12:111597025
|
A | C | 1 | a0003c0004t0005g0086 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.251+1759T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597025 | ||||||
| chr12:111597121
|
T | C | 1 | a0003c0014t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+1663A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597121 | ||||||
| chr12:111597766
|
C | T | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.251+1018G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597766 | ||||||
| chr12:111597775
|
G | A | 2 | a0003c0004t0003g0110a0003c0004t0003g0111 | 2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+1009C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597775 | ||||||
| chr12:111597992
|
G | A | 1 | a0001c0003t0001g0197 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.251+792C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597992 | ||||||
| chr12:111598088
|
C | A | 1 | a0009c0017t0001g0083 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.251+696G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598088 | ||||||
| chr12:111598184
|
A | G | 1 | a0002c0002t0001g0005 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.251+600T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598184 | ||||||
| chr12:111598438
|
G | A | 2 | a0003c0007t0003g0117a0003c0014t0003g0003 | 2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.251+346C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598438 | ||||||
| chr12:111598444
|
G | A | 1 | a0003c0006t0001g0214 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.251+340C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598444 | ||||||
| chr12:111598732
|
G | C | 1 | a0002c0002t0001g0084 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.251+52C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598732 |