| geneid | 8291 |
|---|---|
| ensemblid | ENSG00000135636.16 |
| hgncid | 3097 |
| symbol | DYSF |
| name | dysferlin |
| refseq_nuc | NM_001130987.2 |
| refseq_prot | NP_001124459.1 |
| ensembl_nuc | ENST00000410020.8 |
| ensembl_prot | ENSP00000386881.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 71466699 |
| end | 71686763 |
| strand | + |
| ver | v1.2 |
| region | chr2:71466699-71686763 |
| region5000 | chr2:71461699-71691763 |
| regionname0 | DYSF_chr2_71466699_71686763 |
| regionname5000 | DYSF_chr2_71461699_71691763 |
| 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 | 1/1 | 2119 | 163 | 51 | 36 | 53 | 4 | 17 | 35 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002 | 0/0 | 2119 | 8 | 7 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003 | 0/0 | 2119 | 5 | 4 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0004 | 0/0 | 2119 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0005 | 0/0 | 2121 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0006 | 0/0 | 2119 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0007 | 0/0 | 2119 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0008 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0009 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0010 | 0/0 | 2119 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0011 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0012 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0013 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0014 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0015 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0016 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0017 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0018 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0019 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0020 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0021 | 0/0 | 2119 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0022 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0023 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0024 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0025 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0026 | 0/0 | 2119 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0027 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0028 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0029 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0030 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0031 | 0/0 | 2119 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| 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 | 0/0 | 6360 | 28 | 7 | 6 | 14 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0002 | 1/0 | 6360 | 27 | 0 | 5 | 15 | 0 | 6 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0003 | 0/1 | 6360 | 17 | 1 | 9 | 5 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0004 | 0/0 | 6360 | 8 | 8 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0005 | 0/0 | 6360 | 7 | 0 | 2 | 0 | 0 | 5 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0006 | 0/0 | 6360 | 5 | 1 | 0 | 4 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0007 | 0/0 | 6360 | 5 | 5 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0008 | 0/0 | 6360 | 4 | 1 | 0 | 3 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0009 | 0/0 | 6360 | 4 | 0 | 3 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0010 | 0/0 | 6360 | 4 | 3 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0011 | 0/0 | 6360 | 3 | 2 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0012 | 0/0 | 6360 | 3 | 3 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0013 | 0/0 | 6360 | 2 | 0 | 1 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0014 | 0/0 | 6360 | 2 | 0 | 1 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0015 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0016 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0017 | 0/0 | 6360 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0018 | 0/0 | 6360 | 2 | 0 | 0 | 1 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0019 | 0/0 | 6360 | 2 | 1 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0020 | 0/0 | 6360 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0021 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0022 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0023 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0024 | 0/0 | 6360 | 2 | 0 | 2 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0025 | 0/0 | 6360 | 2 | 0 | 2 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0026 | 0/0 | 6360 | 2 | 1 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0027 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0028 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0029 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0030 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0031 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0032 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0033 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0034 | 0/0 | 6366 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0035 | 0/0 | 6366 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0036 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0037 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0038 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0039 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0040 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0041 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0042 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0043 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0044 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0045 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0046 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0047 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0048 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0049 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0050 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0051 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0052 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0053 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0054 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0055 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0056 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0057 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0058 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0059 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0060 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0061 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0062 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0063 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0064 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0065 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0066 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0067 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0068 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0069 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0070 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0071 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0072 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0073 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0074 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0075 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0076 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0077 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0078 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0079 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0080 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0081 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0082 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0083 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0084 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0085 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0086 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0087 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0088 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0089 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0090 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| c0091 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| 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 | 1/1 | 416 | 144 | 58 | 34 | 29 | 5 | 16 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0002 | 0/0 | 416 | 47 | 8 | 4 | 26 | 1 | 8 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0003 | 0/0 | 416 | 6 | 6 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0004 | 0/0 | 416 | 4 | 4 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0005 | 0/0 | 416 | 4 | 4 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0006 | 0/0 | 416 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0007 | 0/0 | 416 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| t0008 | 0/0 | 416 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| 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 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0010 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0071 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0190 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| 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 | 0/0 | 6360 | 28 | 7 | 6 | 14 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0002 | 1/0 | 6360 | 27 | 0 | 5 | 15 | 0 | 6 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0003 | 0/1 | 6360 | 17 | 1 | 9 | 5 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0004 | 0/0 | 6360 | 8 | 8 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0005 | 0/0 | 6360 | 7 | 0 | 2 | 0 | 0 | 5 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0006 | 0/0 | 6360 | 5 | 1 | 0 | 4 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0007 | 0/0 | 6360 | 5 | 5 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0008 | 0/0 | 6360 | 4 | 1 | 0 | 3 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0009 | 0/0 | 6360 | 4 | 0 | 3 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0010 | 0/0 | 6360 | 4 | 3 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0012 | 0/0 | 6360 | 3 | 3 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0013 | 0/0 | 6360 | 2 | 0 | 1 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0014 | 0/0 | 6360 | 2 | 0 | 1 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0015 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0016 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0017 | 0/0 | 6360 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0018 | 0/0 | 6360 | 2 | 0 | 0 | 1 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0019 | 0/0 | 6360 | 2 | 1 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0020 | 0/0 | 6360 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0024 | 0/0 | 6360 | 2 | 0 | 2 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0025 | 0/0 | 6360 | 2 | 0 | 2 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0026 | 0/0 | 6360 | 2 | 1 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0028 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0031 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0032 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0037 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0039 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0040 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0042 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0047 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0048 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0050 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0051 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0052 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0053 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0056 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0057 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0060 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0061 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0067 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0073 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0074 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0077 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0078 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0079 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0080 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0081 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0084 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0085 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0086 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0089 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0021 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0022 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0023 | 0/0 | 6360 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0070 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0075 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0043 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0044 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0065 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0088 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0090 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0004c0011 | 0/0 | 6360 | 3 | 2 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0005c0034 | 0/0 | 6366 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0005c0035 | 0/0 | 6366 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0006c0063 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0006c0076 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0007c0027 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0008c0091 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0009c0029 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0010c0046 | 0/0 | 6360 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0011c0087 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0012c0055 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0013c0054 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0014c0082 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0015c0083 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0016c0036 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0017c0038 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0018c0041 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0019c0049 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0020c0062 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0021c0064 | 0/0 | 6360 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0022c0066 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0023c0058 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0024c0045 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0025c0033 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0026c0030 | 0/0 | 6360 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0027c0059 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0028c0068 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0029c0072 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0030c0069 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0031c0071 | 0/0 | 6360 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6775 | 18 | 6 | 6 | 6 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0001t0002 | 0/0 | 6775 | 9 | 0 | 0 | 8 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0001t0003 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0002t0001 | 1/0 | 6775 | 14 | 0 | 4 | 6 | 0 | 3 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0002t0002 | 0/0 | 6775 | 13 | 0 | 1 | 9 | 0 | 3 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0003t0001 | 0/1 | 6775 | 16 | 1 | 8 | 5 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0003t0002 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0004t0001 | 0/0 | 6775 | 5 | 5 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0004t0003 | 0/0 | 6775 | 3 | 3 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0005t0001 | 0/0 | 6775 | 6 | 0 | 2 | 0 | 0 | 4 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0005t0002 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0006t0001 | 0/0 | 6775 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0006t0002 | 0/0 | 6775 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0006t0003 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0007t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0007t0002 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0007t0004 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0008t0001 | 0/0 | 6775 | 2 | 1 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0008t0002 | 0/0 | 6775 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0009t0001 | 0/0 | 6775 | 3 | 0 | 2 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0009t0008 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0010t0001 | 0/0 | 6775 | 3 | 2 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0010t0005 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0012t0001 | 0/0 | 6775 | 3 | 3 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0013t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0013t0002 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0014t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0014t0002 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0015t0001 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0016t0001 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0017t0001 | 0/0 | 6775 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0018t0001 | 0/0 | 6775 | 2 | 0 | 0 | 1 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0019t0002 | 0/0 | 6775 | 2 | 1 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0020t0001 | 0/0 | 6775 | 2 | 0 | 0 | 2 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0024t0001 | 0/0 | 6775 | 2 | 0 | 2 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0025t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0025t0002 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0026t0001 | 0/0 | 6775 | 2 | 1 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0028t0001 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0031t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0032t0002 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0037t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0039t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0040t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0042t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0047t0003 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0048t0002 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0050t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0051t0002 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0052t0004 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0053t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0056t0002 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0057t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0060t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0061t0002 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0067t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0073t0001 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0074t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0077t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0078t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0079t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0080t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0081t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0084t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0085t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0086t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0001c0089t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0021t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0021t0002 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0022t0001 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0023t0001 | 0/0 | 6775 | 2 | 2 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0070t0001 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0002c0075t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0043t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0044t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0065t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0088t0006 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0003c0090t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0004c0011t0001 | 0/0 | 6775 | 3 | 2 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0005c0034t0002 | 0/0 | 6781 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0005c0035t0001 | 0/0 | 6781 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0006c0063t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0006c0076t0004 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0007c0027t0007 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0008c0091t0002 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0009c0029t0005 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0010c0046t0001 | 0/0 | 6775 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0011c0087t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0012c0055t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0013c0054t0002 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0014c0082t0002 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0015c0083t0002 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0016c0036t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0017c0038t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0018c0041t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0019c0049t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0020c0062t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0021c0064t0001 | 0/0 | 6775 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0022c0066t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0023c0058t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0024c0045t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0025c0033t0002 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0026c0030t0001 | 0/0 | 6775 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0027c0059t0005 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0028c0068t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0029c0072t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0030c0069t0001 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| a0031c0071t0005 | 0/0 | 6775 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | copy fasta | chr2 | 71461699 | 71691763 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0002g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0001t0003g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0071 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0002t0002g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0010 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0003t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0003g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0004t0003g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0005t0002g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0006t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0006t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0006t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0006t0002g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0006t0003g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0007t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0007t0002g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0007t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0007t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0007t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0008t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0008t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0008t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0008t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0009t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0009t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0009t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0009t0008g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0010t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0010t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0010t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0010t0005g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0012t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0012t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0012t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0013t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0013t0002g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0014t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0014t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0015t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0015t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0016t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0016t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0017t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0017t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0018t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0018t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0019t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0019t0002g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0020t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0020t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0024t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0024t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0025t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0025t0002g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0026t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0026t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0028t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0031t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0032t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0037t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0039t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0040t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0042t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0047t0003g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0048t0002g0190 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0050t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0051t0002g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0052t0004g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0053t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0056t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0057t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0060t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0061t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0067t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0073t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0074t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0077t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0078t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0079t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0080t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0081t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0084t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0085t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0086t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0001c0089t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0021t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0021t0002g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0022t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0022t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0023t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0023t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0070t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0002c0075t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0003c0043t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0003c0044t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0003c0065t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0003c0088t0006g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0003c0090t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0004c0011t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0004c0011t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0004c0011t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0005c0034t0002g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0005c0035t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0006c0063t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0006c0076t0004g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0007c0027t0007g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0008c0091t0002g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0009c0029t0005g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0010c0046t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0011c0087t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0012c0055t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0013c0054t0002g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0014c0082t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0015c0083t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0016c0036t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0017c0038t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0018c0041t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0019c0049t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0020c0062t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0021c0064t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0022c0066t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0023c0058t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0024c0045t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0025c0033t0002g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0026c0030t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0027c0059t0005g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0028c0068t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0029c0072t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0030c0069t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| a0031c0071t0005g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0012 | c0055 | t0001 | g0063 | EUR | GBR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00140 | hp2 | a0026 | c0030 | t0001 | g0016 | EUR | GBR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00438 | hp1 | a0002 | c0070 | t0001 | g0079 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00438 | hp2 | a0001 | c0018 | t0001 | g0100 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00544 | hp1 | a0001 | c0002 | t0001 | g0073 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00544 | hp2 | a0001 | c0002 | t0002 | g0182 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00558 | hp1 | a0001 | c0051 | t0002 | g0195 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00558 | hp2 | a0001 | c0002 | t0001 | g0102 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00642 | hp1 | a0001 | c0014 | t0002 | g0175 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00642 | hp2 | a0001 | c0003 | t0001 | g0039 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00673 | hp1 | a0010 | c0046 | t0001 | g0066 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0099 | EAS | CHS | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00735 | hp1 | a0001 | c0026 | t0001 | g0097 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00735 | hp2 | a0001 | c0025 | t0001 | g0012 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG00738 | hp2 | a0021 | c0064 | t0001 | g0058 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01071 | hp1 | a0001 | c0081 | t0001 | g0018 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01074 | hp1 | a0001 | c0024 | t0001 | g0085 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01081 | hp1 | a0001 | c0009 | t0001 | g0064 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01081 | hp2 | a0005 | c0035 | t0001 | g0122 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01099 | hp1 | a0003 | c0088 | t0006 | g0192 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01099 | hp2 | a0001 | c0057 | t0001 | g0009 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01109 | hp1 | a0004 | c0011 | t0001 | g0146 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01109 | hp2 | a0001 | c0003 | t0001 | g0011 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01167 | hp1 | a0001 | c0009 | t0008 | g0196 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01175 | hp1 | a0001 | c0003 | t0001 | g0014 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01175 | hp2 | a0001 | c0002 | t0002 | g0180 | AMR | PUR | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01255 | hp2 | a0001 | c0009 | t0001 | g0089 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01261 | hp1 | a0001 | c0010 | t0001 | g0041 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01261 | hp2 | a0001 | c0005 | t0001 | g0062 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01433 | hp1 | a0001 | c0003 | t0002 | g0161 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01433 | hp2 | a0001 | c0002 | t0001 | g0017 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01884 | hp1 | a0025 | c0033 | t0002 | g0152 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01884 | hp2 | a0001 | c0077 | t0001 | g0050 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01891 | hp1 | a0030 | c0069 | t0001 | g0200 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01891 | hp2 | a0001 | c0010 | t0001 | g0035 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01934 | hp1 | a0001 | c0002 | t0001 | g0040 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01934 | hp2 | a0001 | c0003 | t0001 | g0008 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01978 | hp1 | a0001 | c0013 | t0001 | g0057 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01978 | hp2 | a0001 | c0003 | t0001 | g0007 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01981 | hp1 | a0001 | c0031 | t0001 | g0120 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01981 | hp2 | a0001 | c0003 | t0001 | g0065 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0105 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02004 | hp2 | a0001 | c0003 | t0001 | g0006 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02040 | hp1 | a0001 | c0003 | t0001 | g0055 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02055 | hp1 | a0001 | c0010 | t0001 | g0142 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02055 | hp2 | a0003 | c0043 | t0001 | g0116 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02074 | hp1 | a0001 | c0006 | t0002 | g0151 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02074 | hp2 | a0001 | c0002 | t0002 | g0166 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0107 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02148 | hp1 | a0001 | c0003 | t0001 | g0076 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02148 | hp2 | a0001 | c0002 | t0001 | g0048 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02165 | hp1 | a0001 | c0019 | t0002 | g0171 | EAS | CDX | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02165 | hp2 | a0001 | c0028 | t0001 | g0060 | EAS | CDX | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02257 | hp1 | a0001 | c0004 | t0001 | g0030 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02257 | hp2 | a0001 | c0084 | t0001 | g0038 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02258 | hp2 | a0001 | c0032 | t0002 | g0193 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02280 | hp1 | a0028 | c0068 | t0001 | g0202 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02280 | hp2 | a0001 | c0060 | t0001 | g0197 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02300 | hp1 | a0001 | c0005 | t0001 | g0092 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02300 | hp2 | a0001 | c0002 | t0001 | g0069 | AMR | PEL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02523 | hp1 | a0001 | c0013 | t0002 | g0186 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02523 | hp2 | a0001 | c0003 | t0001 | g0098 | EAS | KHV | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02615 | hp1 | a0014 | c0082 | t0002 | g0150 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02615 | hp2 | a0001 | c0007 | t0004 | g0020 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02630 | hp1 | a0020 | c0062 | t0001 | g0045 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02647 | hp1 | a0001 | c0047 | t0003 | g0145 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02647 | hp2 | a0001 | c0007 | t0002 | g0189 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02683 | hp1 | a0017 | c0038 | t0001 | g0015 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02683 | hp2 | a0001 | c0018 | t0001 | g0088 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0183 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02698 | hp2 | a0001 | c0002 | t0001 | g0067 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02717 | hp1 | a0001 | c0007 | t0001 | g0139 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02717 | hp2 | a0003 | c0090 | t0001 | g0136 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02723 | hp1 | a0002 | c0021 | t0001 | g0042 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02723 | hp2 | a0001 | c0067 | t0001 | g0083 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02809 | hp1 | a0023 | c0058 | t0001 | g0205 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02809 | hp2 | a0001 | c0050 | t0001 | g0028 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02818 | hp1 | a0001 | c0010 | t0005 | g0091 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02818 | hp2 | a0001 | c0006 | t0003 | g0204 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02922 | hp1 | a0001 | c0004 | t0001 | g0032 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02922 | hp2 | a0018 | c0041 | t0001 | g0118 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02965 | hp1 | a0001 | c0004 | t0003 | g0112 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02965 | hp2 | a0031 | c0071 | t0005 | g0077 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02970 | hp1 | a0001 | c0004 | t0001 | g0025 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02976 | hp1 | a0001 | c0053 | t0001 | g0206 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02976 | hp2 | a0001 | c0012 | t0001 | g0147 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03017 | hp1 | a0016 | c0036 | t0001 | g0115 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03017 | hp2 | a0001 | c0005 | t0001 | g0143 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03041 | hp1 | a0001 | c0085 | t0001 | g0029 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03041 | hp2 | a0001 | c0007 | t0004 | g0022 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03098 | hp2 | a0001 | c0016 | t0001 | g0026 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03130 | hp1 | a0027 | c0059 | t0005 | g0117 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03130 | hp2 | a0001 | c0004 | t0003 | g0134 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03139 | hp1 | a0004 | c0011 | t0001 | g0081 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03139 | hp2 | a0002 | c0022 | t0001 | g0201 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03195 | hp1 | a0001 | c0004 | t0001 | g0080 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03195 | hp2 | a0024 | c0045 | t0001 | g0093 | AFR | ESN | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03209 | hp1 | a0015 | c0083 | t0002 | g0188 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03209 | hp2 | a0001 | c0042 | t0001 | g0141 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03225 | hp1 | a0003 | c0065 | t0001 | g0110 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03225 | hp2 | a0001 | c0015 | t0001 | g0207 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03453 | hp1 | a0001 | c0078 | t0001 | g0199 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03453 | hp2 | a0001 | c0007 | t0002 | g0148 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03486 | hp1 | a0001 | c0016 | t0001 | g0027 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03486 | hp2 | a0002 | c0075 | t0001 | g0138 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03490 | hp1 | a0001 | c0005 | t0001 | g0087 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03490 | hp2 | a0008 | c0091 | t0002 | g0174 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03540 | hp1 | a0001 | c0052 | t0004 | g0021 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03540 | hp2 | a0001 | c0040 | t0001 | g0096 | AFR | GWD | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03579 | hp1 | a0001 | c0012 | t0001 | g0208 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03579 | hp2 | a0002 | c0021 | t0002 | g0149 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0052 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03654 | hp2 | a0001 | c0009 | t0001 | g0053 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03669 | hp1 | a0005 | c0034 | t0002 | g0153 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03669 | hp2 | a0019 | c0049 | t0001 | g0104 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03704 | hp1 | a0001 | c0014 | t0001 | g0004 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0155 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03710 | hp1 | a0013 | c0054 | t0002 | g0169 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03710 | hp2 | a0001 | c0039 | t0001 | g0061 | SAS | PJL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03942 | hp1 | a0022 | c0066 | t0001 | g0075 | SAS | BEB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03942 | hp2 | a0001 | c0002 | t0001 | g0003 | SAS | BEB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04199 | hp1 | a0001 | c0086 | t0001 | g0198 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04199 | hp2 | a0001 | c0005 | t0001 | g0070 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04204 | hp1 | a0001 | c0002 | t0002 | g0172 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04204 | hp2 | a0001 | c0005 | t0002 | g0177 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04228 | hp1 | a0001 | c0005 | t0001 | g0074 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG04228 | hp2 | a0001 | c0002 | t0002 | g0173 | SAS | STU | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18522 | hp1 | a0001 | c0015 | t0001 | g0034 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18522 | hp2 | a0001 | c0003 | t0001 | g0043 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18612 | hp1 | a0001 | c0002 | t0002 | g0185 | EAS | CHB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18612 | hp2 | a0001 | c0002 | t0002 | g0170 | EAS | CHB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18906 | hp1 | a0009 | c0029 | t0005 | g0084 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18906 | hp2 | a0001 | c0019 | t0002 | g0187 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0167 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18946 | hp2 | a0001 | c0003 | t0001 | g0114 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18947 | hp1 | a0001 | c0002 | t0002 | g0164 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18947 | hp2 | a0001 | c0006 | t0001 | g0121 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18948 | hp2 | a0001 | c0002 | t0002 | g0181 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18952 | hp1 | a0001 | c0003 | t0001 | g0127 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18952 | hp2 | a0001 | c0002 | t0002 | g0165 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18962 | hp1 | a0001 | c0020 | t0001 | g0132 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18962 | hp2 | a0001 | c0056 | t0002 | g0162 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18963 | hp1 | a0001 | c0073 | t0001 | g0128 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18969 | hp1 | a0007 | c0027 | t0007 | g0159 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0168 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18970 | hp1 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18971 | hp1 | a0001 | c0001 | t0002 | g0184 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18971 | hp2 | a0001 | c0006 | t0001 | g0072 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18973 | hp1 | a0001 | c0061 | t0002 | g0001 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0154 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18979 | hp1 | a0001 | c0008 | t0001 | g0109 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA18979 | hp2 | a0001 | c0017 | t0001 | g0133 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19010 | hp1 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19010 | hp2 | a0001 | c0008 | t0002 | g0157 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19030 | hp1 | a0011 | c0087 | t0001 | g0090 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19030 | hp2 | a0002 | c0023 | t0001 | g0036 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19043 | hp1 | a0001 | c0026 | t0001 | g0095 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0049 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19064 | hp1 | a0001 | c0002 | t0001 | g0046 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19064 | hp2 | a0001 | c0006 | t0002 | g0176 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0051 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19068 | hp2 | a0001 | c0008 | t0002 | g0178 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19074 | hp1 | a0001 | c0002 | t0002 | g0163 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19074 | hp2 | a0001 | c0017 | t0001 | g0101 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19085 | hp1 | a0001 | c0020 | t0001 | g0131 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19087 | hp1 | a0001 | c0002 | t0002 | g0156 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19087 | hp2 | a0001 | c0001 | t0002 | g0194 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0179 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19088 | hp2 | a0001 | c0003 | t0001 | g0047 | EAS | JPT | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19240 | hp1 | a0004 | c0011 | t0001 | g0103 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA19240 | hp2 | a0006 | c0076 | t0004 | g0019 | AFR | YRI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20129 | hp1 | a0002 | c0022 | t0001 | g0111 | AFR | ASW | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20129 | hp2 | a0001 | c0074 | t0001 | g0094 | AFR | ASW | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20752 | hp1 | a0001 | c0003 | t0001 | g0013 | EUR | TSI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20752 | hp2 | a0001 | c0080 | t0001 | g0086 | EUR | TSI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20805 | hp1 | a0001 | c0048 | t0002 | g0190 | EUR | TSI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20805 | hp2 | a0001 | c0079 | t0001 | g0068 | EUR | TSI | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01123 | hp1 | a0001 | c0025 | t0002 | g0191 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG01123 | hp2 | a0001 | c0024 | t0001 | g0054 | AMR | CLM | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02109 | hp1 | a0001 | c0004 | t0003 | g0113 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02109 | hp2 | a0001 | c0089 | t0001 | g0024 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02486 | hp1 | a0001 | c0004 | t0001 | g0031 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG02486 | hp2 | a0001 | c0008 | t0001 | g0126 | AFR | ACB | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03471 | hp1 | a0029 | c0072 | t0001 | g0144 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG03471 | hp2 | a0001 | c0037 | t0001 | g0044 | AFR | MSL | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | USA | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| HG06807 | hp2 | a0001 | c0012 | t0001 | g0033 | AFR | USA | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20300 | hp1 | a0001 | c0001 | t0003 | g0059 | AFR | USA | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA20300 | hp2 | a0006 | c0063 | t0001 | g0140 | AFR | USA | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA21309 | hp1 | a0002 | c0023 | t0001 | g0123 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| NA21309 | hp2 | a0003 | c0044 | t0001 | g0023 | AFR | LWK | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0003 | t0001 | g0010 | REF | REF | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0071 | REF | REF | DYSF_chr2_71461699_71691763 | DYSF | chr2 | 71461699 | 71691763 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:71466861
|
G | A | 1 | a0007 | 1 | NA18969.hp1 | missense_variant | MODERATE | c.19G>A | p.Val7Met | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/56 | 163/6775 | 19/6360 | 7/2119 | chr2 | 71466861 | ||
| chr2:71503315
|
C | T | 1 | a0008 | 1 | HG03490.hp2 | missense_variant | MODERATE | c.341C>T | p.Thr114Ile | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/56 | 485/6775 | 341/6360 | 114/2119 | chr2 | 71503315 | ||
| chr2:71513823
|
C | G | 4 | a0002a0029a0030others(1): Show | 11 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(8): Show |
missense_variant | MODERATE | c.661C>G | p.Leu221Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/56 | 805/6775 | 661/6360 | 221/2119 | chr2 | 71513823 | ||
| chr2:71515666
|
A | C | 1 | a0028 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.803A>C | p.Asn268Thr | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/56 | 947/6775 | 803/6360 | 268/2119 | chr2 | 71515666 | ||
| chr2:71520900
|
C | T | 1 | a0027 | 1 | HG03130.hp1 | missense_variant | MODERATE | c.1145C>T | p.Ala382Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/56 | 1289/6775 | 1145/6360 | 382/2119 | chr2 | 71520900 | ||
| chr2:71528309
|
G | A | 1 | a0009 | 1 | NA18906.hp1 | missense_variant | MODERATE | c.1288G>A | p.Val430Met | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/56 | 1432/6775 | 1288/6360 | 430/2119 | chr2 | 71528309 | ||
| chr2:71535283
|
G | A | 1 | a0026 | 1 | HG00140.hp2 | missense_variant | MODERATE | c.1465G>A | p.Glu489Lys | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/56 | 1609/6775 | 1465/6360 | 489/2119 | chr2 | 71535283 | ||
| chr2:71553867
|
A | C | 1 | a0010 | 1 | HG00673.hp1 | missense_variant | MODERATE | c.2045A>C | p.Tyr682Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/56 | 2189/6775 | 2045/6360 | 682/2119 | chr2 | 71553867 | ||
| chr2:71561870
|
G | A | 1 | a0025 | 1 | HG01884.hp1 | missense_variant | MODERATE | c.2335G>A | p.Gly779Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/56 | 2479/6775 | 2335/6360 | 779/2119 | chr2 | 71561870 | ||
| chr2:71564202
|
A | G | 3 | a0003a0023a0024 | 7 | HG01099.hp1 HG02055.hp2 HG02717.hp2 others(4): Show |
missense_variant | MODERATE | c.2554A>G | p.Ile852Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/56 | 2698/6775 | 2554/6360 | 852/2119 | chr2 | 71564202 | ||
| chr2:71568027
|
A | C | 1 | a0011 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.2642A>C | p.Asp881Ala | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 25/56 | 2786/6775 | 2642/6360 | 881/2119 | chr2 | 71568027 | ||
| chr2:71568042
|
A | G | 1 | a0011 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.2657A>G | p.Asn886Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 25/56 | 2801/6775 | 2657/6360 | 886/2119 | chr2 | 71568042 | ||
| chr2:71570632
|
G | A | 3 | a0009a0012a0023 | 3 | HG00140.hp1 HG02809.hp1 NA18906.hp1 |
missense_variant | MODERATE | c.3119G>A | p.Arg1040Gln | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/56 | 3263/6775 | 3119/6360 | 1040/2119 | chr2 | 71570632 | ||
| chr2:71574204
|
C | CAGGCGG | 1 | a0005 | 2 | HG01081.hp2 HG03669.hp1 |
disruptive_inframe_insertion | MODERATE | c.3245_3250dupCGGAGG | p.Ala1082_Glu1083dup | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/56 | 3395/6775 | 3251/6360 | 1084/2119 | INFO_REALIGN_3_PRIME | chr2 | 71574204 | |
| chr2:71574306
|
C | T | 1 | a0011 | 1 | NA19030.hp1 | missense_variant | MODERATE | c.3337C>T | p.Arg1113Cys | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/56 | 3481/6775 | 3337/6360 | 1113/2119 | chr2 | 71574306 | ||
| chr2:71574310
|
G | A | 1 | a0004 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
missense_variant | MODERATE | c.3341G>A | p.Arg1114His | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/56 | 3485/6775 | 3341/6360 | 1114/2119 | chr2 | 71574310 | ||
| chr2:71598684
|
C | T | 1 | a0013 | 1 | HG03710.hp1 | missense_variant | MODERATE | c.3695C>T | p.Pro1232Leu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/56 | 3839/6775 | 3695/6360 | 1232/2119 | chr2 | 71598684 | ||
| chr2:71600759
|
C | T | 1 | a0028 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.3814C>T | p.Arg1272Trp | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/56 | 3958/6775 | 3814/6360 | 1272/2119 | chr2 | 71600759 | ||
| chr2:71600828
|
A | C | 1 | a0022 | 1 | HG03942.hp1 | missense_variant | MODERATE | c.3883A>C | p.Ile1295Leu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/56 | 4027/6775 | 3883/6360 | 1295/2119 | chr2 | 71600828 | ||
| chr2:71601508
|
C | T | 1 | a0021 | 1 | HG00738.hp2 | missense_variant | MODERATE | c.3907C>T | p.His1303Tyr | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/56 | 4051/6775 | 3907/6360 | 1303/2119 | chr2 | 71601508 | ||
| chr2:71611314
|
A | G | 3 | a0009a0020a0031 | 3 | HG02630.hp1 HG02965.hp2 NA18906.hp1 |
missense_variant | MODERATE | c.4027A>G | p.Ile1343Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 37/56 | 4171/6775 | 4027/6360 | 1343/2119 | chr2 | 71611314 | ||
| chr2:71611333
|
G | T | 3 | a0006a0012a0029 | 4 | HG00140.hp1 HG03471.hp1 NA19240.hp2 others(1): Show |
missense_variant | MODERATE | c.4046G>T | p.Arg1349Leu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 37/56 | 4190/6775 | 4046/6360 | 1349/2119 | chr2 | 71611333 | ||
| chr2:71613376
|
A | G | 1 | a0030 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.4430A>G | p.Asp1477Gly | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/56 | 4574/6775 | 4430/6360 | 1477/2119 | chr2 | 71613376 | ||
| chr2:71656162
|
G | A | 1 | a0025 | 1 | HG01884.hp1 | missense_variant&splice_region_variant | MODERATE | c.4627G>A | p.Val1543Ile | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/56 | 4771/6775 | 4627/6360 | 1543/2119 | chr2 | 71656162 | ||
| chr2:71658981
|
G | A | 1 | a0014 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.4859G>A | p.Arg1620His | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/56 | 5003/6775 | 4859/6360 | 1620/2119 | chr2 | 71658981 | ||
| chr2:71658989
|
A | G | 1 | a0019 | 1 | HG03669.hp2 | missense_variant | MODERATE | c.4867A>G | p.Ile1623Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/56 | 5011/6775 | 4867/6360 | 1623/2119 | chr2 | 71658989 | ||
| chr2:71668784
|
C | T | 1 | a0021 | 1 | HG00738.hp2 | missense_variant | MODERATE | c.5488C>T | p.Pro1830Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 49/56 | 5632/6775 | 5488/6360 | 1830/2119 | chr2 | 71668784 | ||
| chr2:71668799
|
C | T | 2 | a0018a0024 | 2 | HG02922.hp2 HG03195.hp2 |
missense_variant | MODERATE | c.5503C>T | p.Arg1835Trp | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 49/56 | 5647/6775 | 5503/6360 | 1835/2119 | chr2 | 71668799 | ||
| chr2:71669655
|
G | A | 1 | a0015 | 1 | HG03209.hp1 | missense_variant | MODERATE | c.5693G>A | p.Arg1898His | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/56 | 5837/6775 | 5693/6360 | 1898/2119 | chr2 | 71669655 | ||
| chr2:71681071
|
G | A | 1 | a0016 | 1 | HG03017.hp1 | missense_variant | MODERATE | c.6134G>A | p.Arg2045Gln | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/56 | 6278/6775 | 6134/6360 | 2045/2119 | chr2 | 71681071 | ||
| chr2:71682612
|
A | G | 1 | a0017 | 1 | HG02683.hp1 | missense_variant | MODERATE | c.6256A>G | p.Ile2086Val | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/56 | 6400/6775 | 6256/6360 | 2086/2119 | chr2 | 71682612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:71503223
|
G | C | 1 | a0001c0028 | 1 | HG02165.hp2 | synonymous_variant | LOW | c.249G>C | p.Gly83Gly | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/56 | 393/6775 | 249/6360 | 83/2119 | chr2 | 71503223 | ||
| chr2:71511857
|
C | T | 18 | a0001c0010a0001c0024a0001c0025others(15): Show | 24 | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(21): Show |
synonymous_variant | LOW | c.396C>T | p.Pro132Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/56 | 540/6775 | 396/6360 | 132/2119 | chr2 | 71511857 | ||
| chr2:71513241
|
C | T | 1 | a0006c0076 | 1 | NA19240.hp2 | splice_region_variant&synonymous_variant | LOW | c.462C>T | p.Gly154Gly | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 6/56 | 606/6775 | 462/6360 | 154/2119 | chr2 | 71513241 | ||
| chr2:71513259
|
C | T | 2 | a0001c0074a0002c0075 | 2 | HG03486.hp2 NA20129.hp2 |
synonymous_variant | LOW | c.480C>T | p.Ala160Ala | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 6/56 | 624/6775 | 480/6360 | 160/2119 | chr2 | 71513259 | ||
| chr2:71513798
|
G | T | 1 | a0001c0073 | 1 | NA18963.hp1 | synonymous_variant | LOW | c.636G>T | p.Pro212Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/56 | 780/6775 | 636/6360 | 212/2119 | chr2 | 71513798 | ||
| chr2:71513828
|
T | C | 1 | a0001c0024 | 2 | HG01074.hp1 HG01123.hp2 |
synonymous_variant | LOW | c.666T>C | p.Pro222Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/56 | 810/6775 | 666/6360 | 222/2119 | chr2 | 71513828 | ||
| chr2:71513876
|
G | A | 1 | a0001c0077 | 1 | HG01884.hp2 | synonymous_variant | LOW | c.714G>A | p.Ala238Ala | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/56 | 858/6775 | 714/6360 | 238/2119 | chr2 | 71513876 | ||
| chr2:71517015
|
A | T | 1 | a0003c0090 | 1 | HG02717.hp2 | synonymous_variant | LOW | c.978A>T | p.Thr326Thr | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/56 | 1122/6775 | 978/6360 | 326/2119 | chr2 | 71517015 | ||
| chr2:71520793
|
C | T | 13 | a0001c0006a0001c0007a0001c0019others(10): Show | 23 | HG00738.hp2 HG02074.hp1 HG02165.hp1 others(20): Show |
synonymous_variant | LOW | c.1038C>T | p.His346His | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/56 | 1182/6775 | 1038/6360 | 346/2119 | chr2 | 71520793 | ||
| chr2:71539181
|
C | T | 1 | a0001c0067 | 1 | HG02723.hp2 | synonymous_variant | LOW | c.1518C>T | p.Ile506Ile | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/56 | 1662/6775 | 1518/6360 | 506/2119 | chr2 | 71539181 | ||
| chr2:71551090
|
C | T | 2 | a0001c0077a0001c0089 | 2 | HG01884.hp2 HG02109.hp2 |
synonymous_variant | LOW | c.1626C>T | p.Asn542Asn | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/56 | 1770/6775 | 1626/6360 | 542/2119 | chr2 | 71551090 | ||
| chr2:71551699
|
G | A | 1 | a0001c0031 | 1 | HG01981.hp1 | synonymous_variant | LOW | c.1785G>A | p.Ala595Ala | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/56 | 1929/6775 | 1785/6360 | 595/2119 | chr2 | 71551699 | ||
| chr2:71553085
|
T | C | 68 | a0001c0003a0001c0004a0001c0005others(65): Show | 128 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(125): Show |
synonymous_variant | LOW | c.1881T>C | p.Asp627Asp | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/56 | 2025/6775 | 1881/6360 | 627/2119 | chr2 | 71553085 | ||
| chr2:71553118
|
C | T | 4 | a0001c0016a0001c0047a0001c0048others(1): Show | 5 | HG02647.hp1 HG03098.hp2 HG03486.hp1 others(2): Show |
synonymous_variant | LOW | c.1914C>T | p.Tyr638Tyr | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/56 | 2058/6775 | 1914/6360 | 638/2119 | chr2 | 71553118 | ||
| chr2:71553148
|
G | A | 3 | a0001c0032a0001c0078a0027c0059 | 3 | HG02258.hp2 HG03130.hp1 HG03453.hp1 |
synonymous_variant | LOW | c.1944G>A | p.Pro648Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/56 | 2088/6775 | 1944/6360 | 648/2119 | chr2 | 71553148 | ||
| chr2:71561869
|
C | T | 1 | a0001c0015 | 2 | HG03225.hp2 NA18522.hp1 |
synonymous_variant | LOW | c.2334C>T | p.Leu778Leu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/56 | 2478/6775 | 2334/6360 | 778/2119 | chr2 | 71561869 | ||
| chr2:71568022
|
A | T | 66 | a0001c0003a0001c0004a0001c0005others(63): Show | 122 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(119): Show |
synonymous_variant | LOW | c.2637A>T | p.Ser879Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 25/56 | 2781/6775 | 2637/6360 | 879/2119 | chr2 | 71568022 | ||
| chr2:71568291
|
G | A | 1 | a0001c0032 | 1 | HG02258.hp2 | synonymous_variant | LOW | c.2817G>A | p.Ser939Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/56 | 2961/6775 | 2817/6360 | 939/2119 | chr2 | 71568291 | ||
| chr2:71568330
|
G | A | 1 | a0016c0036 | 1 | HG03017.hp1 | synonymous_variant | LOW | c.2856G>A | p.Pro952Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/56 | 3000/6775 | 2856/6360 | 952/2119 | chr2 | 71568330 | ||
| chr2:71570231
|
C | T | 1 | a0001c0042 | 1 | HG03209.hp2 | splice_region_variant&synonymous_variant | LOW | c.2982C>T | p.Asn994Asn | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 28/56 | 3126/6775 | 2982/6360 | 994/2119 | chr2 | 71570231 | ||
| chr2:71589598
|
C | T | 1 | a0002c0075 | 1 | HG03486.hp2 | synonymous_variant | LOW | c.3408C>T | p.Gly1136Gly | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/56 | 3552/6775 | 3408/6360 | 1136/2119 | chr2 | 71589598 | ||
| chr2:71590215
|
G | A | 1 | a0001c0037 | 1 | HG03471.hp2 | synonymous_variant | LOW | c.3501G>A | p.Gly1167Gly | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/56 | 3645/6775 | 3501/6360 | 1167/2119 | chr2 | 71590215 | ||
| chr2:71611313
|
C | T | 40 | a0001c0004a0001c0007a0001c0010others(37): Show | 63 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(60): Show |
synonymous_variant | LOW | c.4026C>T | p.Asn1342Asn | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 37/56 | 4170/6775 | 4026/6360 | 1342/2119 | chr2 | 71611313 | ||
| chr2:71611467
|
C | A | 30 | a0001c0001a0001c0003a0001c0006others(27): Show | 89 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(86): Show |
splice_region_variant&synonymous_variant | LOW | c.4062C>A | p.Ile1354Ile | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/56 | 4206/6775 | 4062/6360 | 1354/2119 | chr2 | 71611467 | ||
| chr2:71611527
|
C | T | 3 | a0001c0017a0001c0086a0016c0036 | 4 | HG03017.hp1 HG04199.hp1 NA18979.hp2 others(1): Show |
synonymous_variant | LOW | c.4122C>T | p.Ser1374Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/56 | 4266/6775 | 4122/6360 | 1374/2119 | chr2 | 71611527 | ||
| chr2:71612796
|
G | A | 6 | a0001c0026a0001c0042a0001c0052others(3): Show | 7 | HG00735.hp1 HG02615.hp1 HG03209.hp2 others(4): Show |
synonymous_variant | LOW | c.4377G>A | p.Gln1459Gln | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/56 | 4521/6775 | 4377/6360 | 1459/2119 | chr2 | 71612796 | ||
| chr2:71644058
|
C | T | 3 | a0001c0039a0001c0067a0001c0085 | 3 | HG02723.hp2 HG03041.hp1 HG03710.hp2 |
synonymous_variant | LOW | c.4621C>T | p.Leu1541Leu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/56 | 4765/6775 | 4621/6360 | 1541/2119 | chr2 | 71644058 | ||
| chr2:71658970
|
G | A | 1 | a0026c0030 | 1 | HG00140.hp2 | synonymous_variant | LOW | c.4848G>A | p.Glu1616Glu | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/56 | 4992/6775 | 4848/6360 | 1616/2119 | chr2 | 71658970 | ||
| chr2:71667491
|
C | T | 1 | a0001c0051 | 1 | HG00558.hp1 | synonymous_variant | LOW | c.5433C>T | p.Ser1811Ser | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/56 | 5577/6775 | 5433/6360 | 1811/2119 | chr2 | 71667491 | ||
| chr2:71679148
|
A | C | 21 | a0001c0009a0001c0012a0001c0014others(18): Show | 30 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(27): Show |
synonymous_variant | LOW | c.5976A>C | p.Pro1992Pro | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/56 | 6120/6775 | 5976/6360 | 1992/2119 | chr2 | 71679148 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:71466715
|
G | A | 28 | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(25): Show | 53 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(50): Show |
5_prime_UTR_variant | MODIFIER | c.-128G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/56 | 128 | chr2 | 71466715 | |||||
| chr2:71466794
|
C | T | 1 | a0007c0027t0007 | 1 | NA18969.hp1 | 5_prime_UTR_variant | MODIFIER | c.-49C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/56 | 49 | chr2 | 71466794 | |||||
| chr2:71466813
|
G | A | 25 | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(22): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
5_prime_UTR_variant | MODIFIER | c.-30G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/56 | 30 | chr2 | 71466813 | |||||
| chr2:71686545
|
G | A | 5 | a0001c0001t0003a0001c0004t0003a0001c0006t0003others(2): Show | 7 | HG01099.hp1 HG02109.hp1 HG02647.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*53G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 56/56 | 53 | chr2 | 71686545 | |||||
| chr2:71686551
|
C | A | 1 | a0001c0009t0008 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*59C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 56/56 | 59 | chr2 | 71686551 | |||||
| chr2:71686691
|
T | G | 9 | a0001c0001t0003a0001c0004t0003a0001c0006t0003others(6): Show | 11 | HG01099.hp1 HG02109.hp1 HG02647.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*199T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 56/56 | 199 | chr2 | 71686691 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:71466967
|
G | C | 1 | a0001c0061t0002g0001 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.91+34G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71466967 | ||||||
| chr2:71466980
|
T | C | 1 | a0001c0001t0001g0002 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.91+47T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71466980 | ||||||
| chr2:71466983
|
C | T | 13 | a0001c0001t0001g0203a0001c0006t0003g0204a0001c0009t0008g0196others(10): Show | 13 | HG01167.hp1 HG01167.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.91+50C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71466983 | ||||||
| chr2:71467107
|
T | C | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.91+174T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467107 | ||||||
| chr2:71467213
|
A | G | 49 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0160others(46): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.91+280A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467213 | ||||||
| chr2:71467305
|
G | A | 2 | a0001c0002t0001g0003a0001c0014t0001g0004 | 2 | HG03704.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.91+372G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467305 | ||||||
| chr2:71467674
|
A | G | 2 | a0001c0012t0001g0147a0004c0011t0001g0146 | 2 | HG01109.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.91+741A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467674 | ||||||
| chr2:71467707
|
T | G | 14 | a0001c0001t0001g0005a0001c0002t0001g0017a0001c0003t0001g0006others(11): Show | 14 | HG00140.hp2 HG00735.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.91+774T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467707 | ||||||
| chr2:71467791
|
C | G | 7 | a0001c0005t0001g0143a0001c0007t0001g0139a0001c0010t0001g0142others(4): Show | 7 | HG02055.hp1 HG02647.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.91+858C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467791 | ||||||
| chr2:71467861
|
A | T | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.91+928A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467861 | ||||||
| chr2:71467951
|
A | G | 49 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0160others(46): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.91+1018A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467951 | ||||||
| chr2:71467959
|
G | A | 49 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0160others(46): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.91+1026G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467959 | ||||||
| chr2:71467981
|
G | T | 72 | a0001c0001t0001g0082a0001c0001t0001g0105a0001c0001t0001g0106others(69): Show | 72 | HG00438.hp2 HG00558.hp2 HG00673.hp2 others(69): Show |
intron_variant | MODIFIER | c.91+1048G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71467981 | ||||||
| chr2:71468153
|
T | C | 74 | a0001c0001t0001g0037a0001c0001t0002g0154a0001c0001t0002g0158others(71): Show | 74 | HG00544.hp2 HG00642.hp1 HG01099.hp1 others(71): Show |
intron_variant | MODIFIER | c.91+1220T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468153 | ||||||
| chr2:71468179
|
C | T | 2 | a0001c0001t0001g0078a0002c0070t0001g0079 | 2 | HG00438.hp1 HG02040.hp2 |
intron_variant | MODIFIER | c.91+1246C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468179 | ||||||
| chr2:71468219
|
T | C | 2 | a0001c0002t0001g0040a0001c0003t0001g0039 | 2 | HG00642.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.91+1286T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468219 | ||||||
| chr2:71468401
|
G | A | 3 | a0001c0007t0001g0139a0001c0042t0001g0141a0006c0063t0001g0140 | 3 | HG02717.hp1 HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.91+1468G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468401 | ||||||
| chr2:71468508
|
C | A | 49 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0160others(46): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.91+1575C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468508 | ||||||
| chr2:71468510
|
C | G | 49 | a0001c0001t0002g0154a0001c0001t0002g0158a0001c0001t0002g0160others(46): Show | 49 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.91+1577C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468510 | ||||||
| chr2:71468548
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.91+1615C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468548 | ||||||
| chr2:71468749
|
G | A | 2 | a0001c0007t0002g0148a0002c0021t0002g0149 | 2 | HG03453.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.91+1816G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468749 | ||||||
| chr2:71468909
|
G | A | 6 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0052t0004g0021others(3): Show | 6 | HG02109.hp2 HG02615.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.91+1976G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468909 | ||||||
| chr2:71468910
|
C | T | 47 | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(44): Show | 47 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.91+1977C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71468910 | ||||||
| chr2:71469131
|
C | G | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.91+2198C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469131 | ||||||
| chr2:71469388
|
C | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+2455C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469388 | ||||||
| chr2:71469440
|
A | G | 5 | a0001c0007t0002g0148a0001c0012t0001g0208a0001c0032t0002g0193others(2): Show | 5 | HG01099.hp1 HG02258.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.91+2507A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469440 | ||||||
| chr2:71469448
|
GT | G | 63 | a0001c0001t0001g0082a0001c0001t0001g0137a0001c0001t0001g0203others(60): Show | 63 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.91+2516delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469448 | ||||||
| chr2:71469586
|
T | C | 1 | a0001c0005t0001g0092 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.91+2653T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469586 | ||||||
| chr2:71469592
|
C | A | 14 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(11): Show | 14 | HG02257.hp1 HG02486.hp1 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.91+2659C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469592 | ||||||
| chr2:71469681
|
T | G | 4 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0037t0001g0044others(1): Show | 4 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+2748T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469681 | ||||||
| chr2:71469829
|
G | C | 38 | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(35): Show | 38 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.91+2896G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71469829 | ||||||
| chr2:71470064
|
A | G | 11 | a0001c0003t0001g0043a0001c0006t0003g0204a0001c0010t0001g0035others(8): Show | 11 | HG01891.hp2 HG02109.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.91+3131A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470064 | ||||||
| chr2:71470215
|
G | A | 4 | a0001c0015t0001g0207a0001c0026t0001g0095a0001c0026t0001g0097others(1): Show | 4 | HG00735.hp1 HG03225.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+3282G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470215 | ||||||
| chr2:71470331
|
C | T | 3 | a0001c0001t0001g0135a0001c0047t0003g0145a0031c0071t0005g0077 | 3 | HG02630.hp2 HG02647.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.91+3398C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470331 | ||||||
| chr2:71470390
|
C | T | 38 | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(35): Show | 38 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(35): Show |
intron_variant | MODIFIER | c.91+3457C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470390 | ||||||
| chr2:71470444
|
G | A | 4 | a0001c0015t0001g0207a0001c0026t0001g0095a0001c0026t0001g0097others(1): Show | 4 | HG00735.hp1 HG03225.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+3511G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470444 | ||||||
| chr2:71470474
|
A | C | 1 | a0001c0013t0002g0186 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.91+3541A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470474 | ||||||
| chr2:71470555
|
T | C | 5 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0052t0004g0021others(2): Show | 5 | HG02615.hp2 HG03041.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.91+3622T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470555 | ||||||
| chr2:71470567
|
G | A | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.91+3634G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470567 | ||||||
| chr2:71470599
|
A | G | 132 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0082others(129): Show | 132 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(129): Show |
intron_variant | MODIFIER | c.91+3666A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470599 | ||||||
| chr2:71470605
|
C | T | 1 | a0015c0083t0002g0188 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.91+3672C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470605 | ||||||
| chr2:71470673
|
C | CA | 11 | a0001c0002t0001g0046a0001c0002t0001g0099a0001c0003t0001g0098others(8): Show | 11 | HG00438.hp2 HG00673.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.91+3760dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470673 | |||||
| chr2:71470673
|
C | CAA | 14 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(11): Show | 14 | HG02257.hp1 HG02486.hp1 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.91+3759_91+3760dup others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470673 | |||||
| chr2:71470673
|
CA | C | 51 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0119others(48): Show | 51 | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.91+3760delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470673 | |||||
| chr2:71470673
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.91+3751_91+3760del others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470673 | |||||
| chr2:71470686
|
A | G | 1 | a0001c0002t0002g0185 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.91+3753A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470686 | ||||||
| chr2:71470713
|
C | CTTCCTTC others(1): Show |
5 | a0001c0001t0001g0078a0001c0001t0001g0203a0001c0025t0002g0191others(2): Show | 5 | HG00438.hp1 HG01123.hp1 HG01167.hp2 others(2): Show |
intron_variant | MODIFIER | c.91+3788_91+3795dup others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470713 | |||||
| chr2:71470725
|
C | CTTCT | 14 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0009t0008g0196others(11): Show | 14 | HG01109.hp1 HG01167.hp1 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.91+3795_91+3796ins others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470725 | |||||
| chr2:71470729
|
C | T | 46 | a0001c0001t0001g0082a0001c0001t0001g0137a0001c0001t0002g0154others(43): Show | 46 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.91+3796C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470729 | ||||||
| chr2:71470737
|
T | C | 60 | a0001c0001t0001g0082a0001c0001t0001g0137a0001c0001t0002g0154others(57): Show | 60 | HG00544.hp2 HG00558.hp1 HG00642.hp1 others(57): Show |
intron_variant | MODIFIER | c.91+3804T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470737 | ||||||
| chr2:71470737
|
T | TTTCC | 20 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0003t0001g0007others(17): Show | 20 | HG00735.hp2 HG01099.hp2 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.91+3848_91+3851dup others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470737 | |||||
| chr2:71470737
|
T | TTTCCTTC others(1): Show |
4 | a0001c0002t0001g0017a0001c0081t0001g0018a0003c0065t0001g0110others(1): Show | 4 | HG00140.hp2 HG01071.hp1 HG01433.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+3844_91+3851dup others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470737 | |||||
| chr2:71470737
|
TTTCC | T | 48 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0105others(45): Show | 48 | HG00140.hp1 HG00673.hp1 HG00673.hp2 others(45): Show |
intron_variant | MODIFIER | c.91+3848_91+3851del others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470737 | |||||
| chr2:71470737
|
TTTCCTTC others(1): Show |
T | 27 | a0001c0001t0001g0049a0001c0002t0001g0048a0001c0002t0001g0102others(24): Show | 27 | HG00558.hp2 HG00735.hp1 HG02148.hp2 others(24): Show |
intron_variant | MODIFIER | c.91+3844_91+3851del others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470737 | |||||
| chr2:71470737
|
TTTCCTTC others(5): Show |
T | 6 | a0001c0003t0001g0047a0001c0004t0001g0025a0001c0007t0002g0148others(3): Show | 6 | HG02109.hp2 HG02717.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.91+3840_91+3851del others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470737 | |||||
| chr2:71470741
|
C | T | 14 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0009t0008g0196others(11): Show | 14 | HG01109.hp1 HG01167.hp1 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.91+3808C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470741 | ||||||
| chr2:71470745
|
C | T | 48 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0137others(45): Show | 48 | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.91+3812C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470745 | ||||||
| chr2:71470753
|
C | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+3820C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470753 | ||||||
| chr2:71470755
|
T | C | 1 | a0001c0001t0002g0154 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.91+3822T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470755 | ||||||
| chr2:71470769
|
C | A | 4 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0037t0001g0044others(1): Show | 4 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+3836C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470769 | ||||||
| chr2:71470777
|
CTTCCTTC others(1): Show |
C | 2 | a0002c0075t0001g0138a0004c0011t0001g0081 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.91+3852_91+3859del others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71470777 | |||||
| chr2:71470808
|
T | G | 70 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0137others(67): Show | 70 | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.91+3875T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470808 | ||||||
| chr2:71470861
|
G | A | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.91+3928G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470861 | ||||||
| chr2:71470885
|
A | G | 1 | a0001c0007t0002g0148 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.91+3952A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470885 | ||||||
| chr2:71470908
|
C | T | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.91+3975C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71470908 | ||||||
| chr2:71471088
|
G | A | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.91+4155G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71471088 | ||||||
| chr2:71471406
|
A | G | 2 | a0002c0075t0001g0138a0004c0011t0001g0081 | 2 | HG03139.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.91+4473A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71471406 | ||||||
| chr2:71471432
|
G | T | 2 | a0001c0004t0001g0025a0015c0083t0002g0188 | 2 | HG02970.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.91+4499G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71471432 | ||||||
| chr2:71471689
|
G | A | 43 | a0001c0001t0001g0005a0001c0001t0001g0119a0001c0001t0001g0124others(40): Show | 43 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(40): Show |
intron_variant | MODIFIER | c.91+4756G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71471689 | ||||||
| chr2:71471756
|
G | T | 4 | a0001c0006t0003g0204a0001c0053t0001g0206a0002c0021t0002g0149others(1): Show | 4 | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.91+4823G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71471756 | ||||||
| chr2:71472036
|
C | T | 3 | a0002c0023t0001g0036a0002c0075t0001g0138a0004c0011t0001g0081 | 3 | HG03139.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.91+5103C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472036 | ||||||
| chr2:71472054
|
C | T | 44 | a0001c0001t0001g0005a0001c0001t0001g0119a0001c0001t0001g0124others(41): Show | 44 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(41): Show |
intron_variant | MODIFIER | c.91+5121C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472054 | ||||||
| chr2:71472055
|
G | A | 20 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(17): Show | 20 | HG02257.hp1 HG02486.hp1 HG02615.hp1 others(17): Show |
intron_variant | MODIFIER | c.91+5122G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472055 | ||||||
| chr2:71472123
|
A | G | 54 | a0001c0001t0001g0005a0001c0001t0001g0119a0001c0001t0001g0124others(51): Show | 54 | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.91+5190A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472123 | ||||||
| chr2:71472149
|
T | C | 10 | a0001c0006t0003g0204a0001c0015t0001g0207a0001c0026t0001g0095others(7): Show | 10 | HG00735.hp1 HG02109.hp2 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.91+5216T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472149 | ||||||
| chr2:71472346
|
G | A | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.91+5413G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472346 | ||||||
| chr2:71472387
|
C | T | 4 | a0001c0009t0008g0196a0001c0012t0001g0147a0001c0060t0001g0197others(1): Show | 4 | HG01167.hp1 HG02280.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+5454C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472387 | ||||||
| chr2:71472502
|
G | T | 40 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(37): Show | 40 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(37): Show |
intron_variant | MODIFIER | c.91+5569G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472502 | ||||||
| chr2:71472598
|
G | A | 1 | a0001c0001t0002g0194 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.91+5665G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472598 | ||||||
| chr2:71472608
|
A | G | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.91+5675A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472608 | ||||||
| chr2:71472613
|
A | G | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.91+5680A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472613 | ||||||
| chr2:71472652
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.91+5719C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472652 | ||||||
| chr2:71472695
|
C | T | 2 | a0001c0089t0001g0024a0003c0090t0001g0136 | 2 | HG02109.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.91+5762C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472695 | ||||||
| chr2:71472696
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.91+5763G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472696 | ||||||
| chr2:71472697
|
C | T | 44 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(41): Show | 44 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(41): Show |
intron_variant | MODIFIER | c.91+5764C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472697 | ||||||
| chr2:71472701
|
A | C | 1 | a0001c0001t0002g0184 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.91+5768A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472701 | ||||||
| chr2:71472761
|
C | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+5828C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472761 | ||||||
| chr2:71472951
|
C | A | 34 | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(31): Show | 34 | HG00558.hp1 HG00642.hp1 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.91+6018C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71472951 | ||||||
| chr2:71473098
|
C | T | 2 | a0001c0074t0001g0094a0024c0045t0001g0093 | 2 | HG03195.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.91+6165C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473098 | ||||||
| chr2:71473162
|
G | A | 1 | a0001c0005t0001g0143 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.91+6229G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473162 | ||||||
| chr2:71473268
|
C | T | 1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.91+6335C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473268 | ||||||
| chr2:71473275
|
G | A | 66 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0124others(63): Show | 66 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(63): Show |
intron_variant | MODIFIER | c.91+6342G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473275 | ||||||
| chr2:71473357
|
T | A | 5 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0012t0001g0208others(2): Show | 5 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.91+6424T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473357 | ||||||
| chr2:71473613
|
A | G | 75 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0124others(72): Show | 75 | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(72): Show |
intron_variant | MODIFIER | c.91+6680A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473613 | ||||||
| chr2:71473628
|
T | C | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.91+6695T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473628 | ||||||
| chr2:71473658
|
A | G | 84 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0124others(81): Show | 84 | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(81): Show |
intron_variant | MODIFIER | c.91+6725A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473658 | ||||||
| chr2:71473706
|
C | T | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.91+6773C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473706 | ||||||
| chr2:71473805
|
A | G | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.91+6872A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71473805 | ||||||
| chr2:71473918
|
A | AT | 24 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0002g0183others(21): Show | 24 | HG01261.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.92-6940dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71473918
|
A | ATT | 17 | a0001c0001t0001g0078a0001c0001t0001g0203a0001c0007t0004g0020others(14): Show | 17 | HG00438.hp1 HG00735.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.92-6941_92-6940dup others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71473918
|
A | ATTT | 5 | a0001c0004t0001g0080a0001c0012t0001g0147a0001c0015t0001g0034others(2): Show | 5 | HG01123.hp1 HG02976.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-6942_92-6940dup others(3): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71473918
|
AT | A | 67 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(64): Show | 67 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(64): Show |
intron_variant | MODIFIER | c.92-6940delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71473918
|
ATT | A | 5 | a0001c0003t0001g0114a0001c0005t0001g0143a0001c0006t0003g0204others(2): Show | 5 | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-6941_92-6940del others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71473918
|
ATTTTTT | A | 33 | a0001c0001t0001g0137a0001c0001t0002g0154a0001c0001t0002g0158others(30): Show | 33 | HG00558.hp1 HG00642.hp1 HG01175.hp2 others(30): Show |
intron_variant | MODIFIER | c.92-6945_92-6940del others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71473918 | |||||
| chr2:71474009
|
C | T | 29 | a0001c0001t0001g0037a0001c0004t0001g0025a0001c0004t0001g0030others(26): Show | 29 | HG01884.hp2 HG02055.hp1 HG02257.hp1 others(26): Show |
intron_variant | MODIFIER | c.92-6874C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474009 | ||||||
| chr2:71474051
|
C | G | 4 | a0001c0015t0001g0207a0001c0026t0001g0095a0001c0026t0001g0097others(1): Show | 4 | HG00735.hp1 HG03225.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-6832C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474051 | ||||||
| chr2:71474185
|
C | T | 3 | a0001c0001t0001g0135a0001c0047t0003g0145a0031c0071t0005g0077 | 3 | HG02630.hp2 HG02647.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.92-6698C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474185 | ||||||
| chr2:71474222
|
A | G | 152 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(149): Show | 152 | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(149): Show |
intron_variant | MODIFIER | c.92-6661A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474222 | ||||||
| chr2:71474395
|
C | G | 4 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0037t0001g0044others(1): Show | 4 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-6488C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474395 | ||||||
| chr2:71474616
|
G | A | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.92-6267G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474616 | ||||||
| chr2:71474717
|
G | T | 70 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0124others(67): Show | 70 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(67): Show |
intron_variant | MODIFIER | c.92-6166G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474717 | ||||||
| chr2:71474867
|
C | T | 2 | a0001c0001t0001g0135a0031c0071t0005g0077 | 2 | HG02630.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.92-6016C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474867 | ||||||
| chr2:71474991
|
G | A | 1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.92-5892G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71474991 | ||||||
| chr2:71475205
|
C | T | 5 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0012t0001g0208others(2): Show | 5 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.92-5678C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475205 | ||||||
| chr2:71475209
|
G | T | 13 | a0001c0001t0001g0078a0001c0004t0001g0030a0001c0004t0001g0031others(10): Show | 13 | HG00438.hp1 HG01123.hp1 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.92-5674G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475209 | ||||||
| chr2:71475244
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.92-5639G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475244 | ||||||
| chr2:71475313
|
AG | A | 5 | a0001c0003t0001g0043a0001c0010t0001g0035a0001c0012t0001g0208others(2): Show | 5 | HG01891.hp2 HG02630.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.92-5568delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71475313 | |||||
| chr2:71475401
|
C | T | 9 | a0001c0001t0001g0078a0001c0004t0001g0030a0001c0004t0001g0031others(6): Show | 9 | HG00438.hp1 HG01123.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.92-5482C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475401 | ||||||
| chr2:71475442
|
G | A | 1 | a0001c0005t0001g0143 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.92-5441G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475442 | ||||||
| chr2:71475452
|
A | G | 91 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(88): Show | 91 | HG00140.hp2 HG00438.hp1 HG00673.hp1 others(88): Show |
intron_variant | MODIFIER | c.92-5431A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475452 | ||||||
| chr2:71475482
|
A | T | 1 | a0001c0003t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.92-5401A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475482 | ||||||
| chr2:71475687
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.92-5196C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475687 | ||||||
| chr2:71475864
|
G | A | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.92-5019G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475864 | ||||||
| chr2:71475881
|
A | G | 48 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(45): Show | 48 | HG00140.hp1 HG00140.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.92-5002A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475881 | ||||||
| chr2:71475893
|
C | T | 49 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(46): Show | 49 | HG00140.hp2 HG00735.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.92-4990C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475893 | ||||||
| chr2:71475907
|
C | T | 5 | a0001c0006t0003g0204a0001c0012t0001g0147a0001c0012t0001g0208others(2): Show | 5 | HG02809.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-4976C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475907 | ||||||
| chr2:71475908
|
G | A | 1 | a0031c0071t0005g0077 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.92-4975G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71475908 | ||||||
| chr2:71476059
|
C | G | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.92-4824C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476059 | ||||||
| chr2:71476102
|
C | T | 3 | a0001c0052t0004g0021a0002c0075t0001g0138a0004c0011t0001g0081 | 3 | HG03139.hp1 HG03486.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.92-4781C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476102 | ||||||
| chr2:71476234
|
A | G | 79 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0108others(76): Show | 79 | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(76): Show |
intron_variant | MODIFIER | c.92-4649A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476234 | ||||||
| chr2:71476324
|
G | A | 48 | a0001c0001t0001g0005a0001c0001t0001g0108a0001c0001t0001g0124others(45): Show | 48 | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.92-4559G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476324 | ||||||
| chr2:71476339
|
G | A | 3 | a0001c0052t0004g0021a0002c0075t0001g0138a0004c0011t0001g0081 | 3 | HG03139.hp1 HG03486.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.92-4544G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476339 | ||||||
| chr2:71476433
|
C | T | 23 | a0001c0001t0001g0037a0001c0003t0001g0043a0001c0005t0001g0062others(20): Show | 23 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.92-4450C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476433 | ||||||
| chr2:71476528
|
T | C | 25 | a0001c0001t0001g0037a0001c0001t0001g0135a0001c0003t0001g0043others(22): Show | 25 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.92-4355T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476528 | ||||||
| chr2:71476544
|
G | GA | 32 | a0001c0001t0001g0037a0001c0001t0001g0135a0001c0002t0002g0156others(29): Show | 32 | HG01261.hp2 HG01884.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.92-4326dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476544 | |||||
| chr2:71476661
|
A | T | 48 | a0001c0001t0001g0005a0001c0001t0001g0108a0001c0001t0001g0124others(45): Show | 48 | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.92-4222A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476661 | ||||||
| chr2:71476815
|
A | C | 96 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0105others(93): Show | 96 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.92-4068A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476815 | ||||||
| chr2:71476823
|
C | CT | 7 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0026t0001g0095others(4): Show | 7 | HG00735.hp1 HG02615.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.92-4045dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476823 | |||||
| chr2:71476823
|
CT | C | 63 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0108others(60): Show | 63 | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.92-4045delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476823 | |||||
| chr2:71476823
|
CTT | C | 6 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0031t0001g0120others(3): Show | 6 | HG01981.hp1 HG02717.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.92-4046_92-4045del others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476823 | |||||
| chr2:71476838
|
T | TC | 91 | a0001c0001t0001g0078a0001c0001t0001g0105a0001c0001t0001g0106others(88): Show | 91 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(88): Show |
intron_variant | MODIFIER | c.92-4043dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476838 | |||||
| chr2:71476838
|
T | TTC | 5 | a0001c0001t0001g0082a0001c0001t0002g0184a0001c0002t0002g0156others(2): Show | 5 | HG00544.hp2 HG01891.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-4045_92-4044ins others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476838 | ||||||
| chr2:71476875
|
CA | C | 130 | a0001c0001t0001g0037a0001c0001t0001g0078a0001c0001t0001g0082others(127): Show | 130 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.92-4004delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71476875 | |||||
| chr2:71476967
|
A | T | 1 | a0001c0015t0001g0034 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.92-3916A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71476967 | ||||||
| chr2:71477038
|
A | C | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.92-3845A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477038 | ||||||
| chr2:71477068
|
A | G | 24 | a0001c0001t0001g0037a0001c0003t0001g0043a0001c0005t0001g0062others(21): Show | 24 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.92-3815A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477068 | ||||||
| chr2:71477174
|
G | A | 48 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0137others(45): Show | 48 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.92-3709G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477174 | ||||||
| chr2:71477254
|
C | T | 10 | a0001c0009t0008g0196a0001c0012t0001g0147a0001c0012t0001g0208others(7): Show | 10 | HG01167.hp1 HG02109.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.92-3629C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477254 | ||||||
| chr2:71477357
|
G | T | 24 | a0001c0001t0001g0037a0001c0003t0001g0043a0001c0005t0001g0062others(21): Show | 24 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.92-3526G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477357 | ||||||
| chr2:71477361
|
G | A | 24 | a0001c0001t0001g0037a0001c0003t0001g0043a0001c0005t0001g0062others(21): Show | 24 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.92-3522G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477361 | ||||||
| chr2:71477508
|
C | A | 11 | a0001c0001t0001g0135a0001c0009t0008g0196a0001c0012t0001g0147others(8): Show | 11 | HG01167.hp1 HG02109.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.92-3375C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477508 | ||||||
| chr2:71477563
|
T | C | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.92-3320T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477563 | ||||||
| chr2:71477714
|
A | G | 24 | a0001c0001t0001g0037a0001c0003t0001g0043a0001c0005t0001g0062others(21): Show | 24 | HG01099.hp1 HG01261.hp2 HG01884.hp1 others(21): Show |
intron_variant | MODIFIER | c.92-3169A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71477714 | ||||||
| chr2:71478043
|
G | GT | 13 | a0001c0001t0001g0135a0001c0003t0001g0014a0001c0006t0002g0176others(10): Show | 13 | HG01167.hp1 HG01175.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.92-2825dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478043 | |||||
| chr2:71478043
|
G | GTTTT | 15 | a0001c0001t0001g0037a0001c0005t0001g0062a0001c0005t0001g0143others(12): Show | 15 | HG01261.hp2 HG01884.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.92-2828_92-2825dup others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478043 | |||||
| chr2:71478212
|
A | AT | 7 | a0001c0001t0001g0078a0001c0002t0001g0067a0001c0006t0001g0121others(4): Show | 7 | HG00438.hp1 HG00738.hp2 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.92-2654dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478212 | |||||
| chr2:71478212
|
AT | A | 19 | a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0002g0154others(16): Show | 19 | HG01081.hp1 HG01167.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.92-2654delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478212 | |||||
| chr2:71478243
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.92-2640A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478243 | ||||||
| chr2:71478250
|
C | T | 3 | a0001c0009t0008g0196a0001c0060t0001g0197a0002c0022t0001g0111 | 3 | HG01167.hp1 HG02280.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.92-2633C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478250 | ||||||
| chr2:71478272
|
T | C | 1 | a0014c0082t0002g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.92-2611T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478272 | ||||||
| chr2:71478295
|
C | T | 3 | a0001c0001t0002g0194a0001c0002t0001g0073a0021c0064t0001g0058 | 3 | HG00544.hp1 HG00738.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.92-2588C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478295 | ||||||
| chr2:71478297
|
C | T | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.92-2586C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478297 | ||||||
| chr2:71478312
|
C | T | 1 | a0001c0015t0001g0207 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.92-2571C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478312 | ||||||
| chr2:71478313
|
G | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.92-2570G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478313 | ||||||
| chr2:71478314
|
C | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.92-2569C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478314 | ||||||
| chr2:71478336
|
C | T | 2 | a0002c0021t0001g0042a0003c0044t0001g0023 | 2 | HG02723.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.92-2547C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478336 | ||||||
| chr2:71478340
|
C | T | 5 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0026t0001g0095others(2): Show | 5 | HG00735.hp1 HG02615.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.92-2543C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478340 | ||||||
| chr2:71478368
|
T | C | 1 | a0001c0005t0001g0092 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.92-2515T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478368 | ||||||
| chr2:71478386
|
T | A | 3 | a0001c0009t0008g0196a0001c0060t0001g0197a0002c0022t0001g0111 | 3 | HG01167.hp1 HG02280.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.92-2497T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478386 | ||||||
| chr2:71478400
|
A | AT | 2 | a0001c0089t0001g0024a0003c0090t0001g0136 | 2 | HG02109.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.92-2482dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478400 | |||||
| chr2:71478401
|
T | C | 41 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0137others(38): Show | 41 | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.92-2482T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478401 | ||||||
| chr2:71478413
|
G | A | 93 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0106others(90): Show | 93 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.92-2470G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478413 | ||||||
| chr2:71478433
|
A | C | 1 | a0001c0006t0001g0072 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.92-2450A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478433 | ||||||
| chr2:71478433
|
A | T | 1 | a0001c0020t0001g0132 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.92-2450A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478433 | ||||||
| chr2:71478454
|
A | G | 1 | a0001c0001t0002g0194 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.92-2429A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478454 | ||||||
| chr2:71478458
|
A | G | 6 | a0001c0037t0001g0044a0001c0047t0003g0145a0002c0021t0002g0149others(3): Show | 6 | HG01099.hp1 HG02630.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.92-2425A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478458 | ||||||
| chr2:71478459
|
C | A | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.92-2424C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478459 | ||||||
| chr2:71478463
|
A | G | 6 | a0001c0037t0001g0044a0001c0047t0003g0145a0002c0021t0002g0149others(3): Show | 6 | HG01099.hp1 HG02630.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.92-2420A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478463 | ||||||
| chr2:71478472
|
G | A | 107 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(104): Show | 107 | HG00140.hp2 HG00438.hp1 HG00642.hp2 others(104): Show |
intron_variant | MODIFIER | c.92-2411G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478472 | ||||||
| chr2:71478490
|
T | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.92-2393T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478490 | ||||||
| chr2:71478507
|
G | A | 6 | a0001c0012t0001g0147a0001c0012t0001g0208a0001c0015t0001g0207others(3): Show | 6 | HG02965.hp2 HG02976.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.92-2376G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478507 | ||||||
| chr2:71478682
|
C | A | 8 | a0001c0004t0003g0134a0001c0007t0001g0139a0001c0007t0002g0148others(5): Show | 8 | HG02055.hp2 HG02717.hp1 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.92-2201C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478682 | ||||||
| chr2:71478779
|
C | T | 171 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(168): Show | 171 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(168): Show |
intron_variant | MODIFIER | c.92-2104C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478779 | ||||||
| chr2:71478825
|
G | GCT | 2 | a0025c0033t0002g0152a0029c0072t0001g0144 | 2 | HG01884.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.92-2053_92-2052dup others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71478825 | |||||
| chr2:71478832
|
T | C | 122 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0105others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(119): Show |
intron_variant | MODIFIER | c.92-2051T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478832 | ||||||
| chr2:71478912
|
T | G | 10 | a0001c0001t0001g0082a0001c0001t0001g0135a0001c0012t0001g0147others(7): Show | 10 | HG02257.hp2 HG02630.hp2 HG02965.hp2 others(7): Show |
intron_variant | MODIFIER | c.92-1971T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478912 | ||||||
| chr2:71478954
|
C | T | 46 | a0001c0001t0001g0056a0001c0001t0001g0130a0001c0001t0001g0137others(43): Show | 46 | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.92-1929C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478954 | ||||||
| chr2:71478988
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.92-1895C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71478988 | ||||||
| chr2:71479067
|
G | T | 10 | a0001c0001t0001g0082a0001c0012t0001g0147a0001c0012t0001g0208others(7): Show | 10 | HG02630.hp1 HG02922.hp2 HG02976.hp2 others(7): Show |
intron_variant | MODIFIER | c.92-1816G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479067 | ||||||
| chr2:71479089
|
C | A | 2 | a0001c0009t0008g0196a0001c0060t0001g0197 | 2 | HG01167.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.92-1794C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479089 | ||||||
| chr2:71479156
|
T | TAAGAGCC others(173): Show |
1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.92-1720_92-1719ins others(180): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(174): Show |
4 | a0001c0006t0003g0204a0001c0009t0008g0196a0001c0060t0001g0197others(1): Show | 4 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.92-1720_92-1719ins others(181): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(165): Show |
1 | a0002c0022t0001g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.92-1720_92-1719ins others(172): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(175): Show |
10 | a0001c0001t0001g0005a0001c0002t0001g0017a0001c0003t0001g0006others(7): Show | 10 | HG00642.hp2 HG00735.hp2 HG01175.hp1 others(7): Show |
intron_variant | MODIFIER | c.92-1720_92-1719ins others(182): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(176): Show |
27 | a0001c0001t0001g0078a0001c0001t0001g0129a0001c0001t0002g0168others(24): Show | 27 | HG00140.hp2 HG00438.hp1 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.92-1720_92-1719ins others(183): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(177): Show |
7 | a0001c0008t0001g0126a0001c0013t0001g0057a0001c0017t0001g0133others(4): Show | 7 | HG00673.hp1 HG01978.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.92-1720_92-1719ins others(184): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479156
|
T | TAAGAGCC others(178): Show |
2 | a0001c0003t0002g0161a0001c0006t0001g0121 | 2 | HG01433.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.92-1720_92-1719ins others(185): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479156 | |||||
| chr2:71479164
|
G | A | 52 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0129others(49): Show | 52 | HG00140.hp2 HG00438.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.92-1719G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479164 | ||||||
| chr2:71479164
|
G | GACCCAAA others(176): Show |
2 | a0001c0002t0001g0067a0001c0003t0001g0010 | 2 | HG02698.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.92-1710_92-1709ins others(183): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479164 | |||||
| chr2:71479248
|
G | C | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.92-1635G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479248 | ||||||
| chr2:71479260
|
G | A | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.92-1623G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479260 | ||||||
| chr2:71479292
|
CTCT | C | 5 | a0001c0001t0001g0119a0001c0010t0001g0041a0001c0019t0002g0187others(2): Show | 5 | HG01261.hp1 HG02970.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-1583_92-1581del others(3): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71479292 | |||||
| chr2:71479359
|
C | G | 3 | a0001c0002t0001g0046a0001c0006t0002g0151a0001c0028t0001g0060 | 3 | HG02074.hp1 HG02165.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.92-1524C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479359 | ||||||
| chr2:71479433
|
G | C | 50 | a0001c0001t0001g0078a0001c0001t0002g0168a0001c0002t0001g0067others(47): Show | 50 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(47): Show |
intron_variant | MODIFIER | c.92-1450G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479433 | ||||||
| chr2:71479464
|
G | A | 1 | a0001c0008t0002g0157 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.92-1419G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479464 | ||||||
| chr2:71479567
|
C | A | 105 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(102): Show | 105 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(102): Show |
intron_variant | MODIFIER | c.92-1316C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479567 | ||||||
| chr2:71479609
|
C | G | 58 | a0001c0001t0001g0135a0001c0001t0002g0168a0001c0001t0003g0059others(55): Show | 58 | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(55): Show |
intron_variant | MODIFIER | c.92-1274C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479609 | ||||||
| chr2:71479676
|
C | G | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.92-1207C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479676 | ||||||
| chr2:71479726
|
G | A | 164 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(161): Show | 164 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(161): Show |
intron_variant | MODIFIER | c.92-1157G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479726 | ||||||
| chr2:71479732
|
G | A | 2 | a0001c0010t0001g0041a0002c0023t0001g0036 | 2 | HG01261.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.92-1151G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479732 | ||||||
| chr2:71479843
|
C | T | 7 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0010t0001g0041others(4): Show | 7 | HG01261.hp1 HG02970.hp2 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.92-1040C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479843 | ||||||
| chr2:71479901
|
A | G | 1 | a0001c0006t0001g0072 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.92-982A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479901 | ||||||
| chr2:71479954
|
A | G | 1 | a0001c0001t0002g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.92-929A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71479954 | ||||||
| chr2:71480042
|
C | T | 172 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(169): Show | 172 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(169): Show |
intron_variant | MODIFIER | c.92-841C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480042 | ||||||
| chr2:71480078
|
T | C | 180 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(177): Show | 180 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(177): Show |
intron_variant | MODIFIER | c.92-805T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480078 | ||||||
| chr2:71480114
|
A | G | 3 | a0001c0007t0001g0139a0001c0042t0001g0141a0006c0063t0001g0140 | 3 | HG02717.hp1 HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.92-769A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480114 | ||||||
| chr2:71480273
|
T | G | 9 | a0001c0006t0002g0176a0001c0006t0003g0204a0001c0009t0008g0196others(6): Show | 9 | HG01123.hp2 HG01167.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.92-610T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480273 | ||||||
| chr2:71480276
|
G | A | 172 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(169): Show | 172 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(169): Show |
intron_variant | MODIFIER | c.92-607G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480276 | ||||||
| chr2:71480364
|
G | A | 4 | a0001c0001t0001g0078a0001c0001t0001g0119a0001c0006t0001g0121others(1): Show | 4 | HG00438.hp1 HG02040.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-519G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480364 | ||||||
| chr2:71480367
|
T | TAC | 82 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(79): Show | 82 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.92-501_92-500dupAC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71480367 | |||||
| chr2:71480367
|
T | TACAC | 4 | a0001c0007t0002g0148a0001c0077t0001g0050a0002c0021t0001g0042others(1): Show | 4 | HG01884.hp2 HG02723.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-503_92-500dupAC others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71480367 | |||||
| chr2:71480395
|
C | CACACAT | 2 | a0004c0011t0001g0081a0004c0011t0001g0146 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.92-485_92-484insCA others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71480395 | |||||
| chr2:71480395
|
C | CACAT | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0027c0059t0005g0117 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.92-484_92-481dupTA others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | 71480395 | |||||
| chr2:71480483
|
G | A | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0027c0059t0005g0117 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.92-400G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480483 | ||||||
| chr2:71480511
|
A | G | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0027c0059t0005g0117 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.92-372A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480511 | ||||||
| chr2:71480514
|
A | T | 1 | a0001c0002t0002g0173 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.92-369A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480514 | ||||||
| chr2:71480591
|
A | T | 5 | a0001c0004t0003g0112a0001c0004t0003g0113a0004c0011t0001g0081others(2): Show | 5 | HG01109.hp1 HG02109.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-292A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480591 | ||||||
| chr2:71480671
|
A | G | 1 | a0001c0061t0002g0001 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.92-212A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480671 | ||||||
| chr2:71480742
|
G | A | 1 | a0001c0002t0001g0048 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.92-141G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480742 | ||||||
| chr2:71480752
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.92-131G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | chr2 | 71480752 | ||||||
| chr2:71481071
|
T | C | 2 | a0001c0006t0002g0176a0001c0024t0001g0054 | 2 | HG01123.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.147+133T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481071 | ||||||
| chr2:71481103
|
G | A | 1 | a0013c0054t0002g0169 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.147+165G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481103 | ||||||
| chr2:71481112
|
G | T | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | HG00738.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.147+174G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481112 | ||||||
| chr2:71481424
|
T | A | 2 | a0001c0074t0001g0094a0024c0045t0001g0093 | 2 | HG03195.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.148-455T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481424 | ||||||
| chr2:71481494
|
G | A | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0027c0059t0005g0117 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.148-385G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481494 | ||||||
| chr2:71481559
|
C | T | 42 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(39): Show | 42 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.148-320C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481559 | ||||||
| chr2:71481602
|
T | C | 47 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(44): Show | 47 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.148-277T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481602 | ||||||
| chr2:71481680
|
T | G | 83 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0105others(80): Show | 83 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.148-199T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481680 | ||||||
| chr2:71481695
|
T | TATCC | 43 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(40): Show | 43 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.148-153_148-150dup others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481695 | |||||
| chr2:71481695
|
T | TATCCATC others(1): Show |
11 | a0001c0001t0001g0135a0001c0002t0002g0172a0001c0015t0001g0207others(8): Show | 11 | HG01981.hp1 HG02630.hp2 HG03130.hp1 others(8): Show |
intron_variant | MODIFIER | c.148-157_148-150dup others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481695 | |||||
| chr2:71481695
|
T | TATCCATC others(5): Show |
40 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(37): Show | 40 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(37): Show |
intron_variant | MODIFIER | c.148-161_148-150dup others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481695 | |||||
| chr2:71481695
|
T | TATCCATC others(9): Show |
1 | a0001c0002t0002g0180 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.148-165_148-150dup others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481695 | |||||
| chr2:71481722
|
C | CCATCCAT others(17): Show |
11 | a0001c0001t0001g0130a0001c0001t0001g0137a0001c0001t0002g0154others(8): Show | 11 | HG00735.hp1 HG02257.hp2 NA18948.hp1 others(8): Show |
intron_variant | MODIFIER | c.148-150_148-149ins others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481722 | |||||
| chr2:71481722
|
C | CCATCCAT others(13): Show |
54 | a0001c0001t0001g0078a0001c0001t0001g0105a0001c0001t0001g0106others(51): Show | 54 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.148-150_148-149ins others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481722 | |||||
| chr2:71481722
|
C | CCATCCAT others(9): Show |
17 | a0001c0001t0001g0005a0001c0003t0001g0006a0001c0003t0001g0007others(14): Show | 17 | HG00140.hp1 HG00642.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.148-150_148-149ins others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 71481722 | |||||
| chr2:71481788
|
C | T | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.148-91C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | chr2 | 71481788 | ||||||
| chr2:71481990
|
G | A | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+20G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71481990 | ||||||
| chr2:71482001
|
C | G | 9 | a0001c0006t0003g0204a0001c0007t0002g0148a0001c0009t0008g0196others(6): Show | 9 | HG01167.hp1 HG01884.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.239+31C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482001 | ||||||
| chr2:71482245
|
G | C | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.239+275G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482245 | ||||||
| chr2:71482342
|
C | T | 4 | a0001c0012t0001g0033a0001c0089t0001g0024a0003c0044t0001g0023others(1): Show | 4 | HG02109.hp2 HG02717.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.239+372C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482342 | ||||||
| chr2:71482592
|
G | A | 3 | a0001c0077t0001g0050a0002c0021t0001g0042a0002c0021t0002g0149 | 3 | HG01884.hp2 HG02723.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239+622G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482592 | ||||||
| chr2:71482602
|
C | G | 3 | a0001c0006t0002g0176a0001c0017t0001g0101a0001c0024t0001g0054 | 3 | HG01123.hp2 NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+632C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482602 | ||||||
| chr2:71482797
|
G | T | 13 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0006t0003g0204others(10): Show | 13 | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.239+827G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482797 | ||||||
| chr2:71482812
|
G | A | 4 | a0001c0012t0001g0033a0001c0089t0001g0024a0003c0044t0001g0023others(1): Show | 4 | HG02109.hp2 HG02717.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.239+842G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482812 | ||||||
| chr2:71482938
|
G | T | 49 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(46): Show | 49 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(46): Show |
intron_variant | MODIFIER | c.239+968G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71482938 | ||||||
| chr2:71483022
|
G | A | 10 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0006t0003g0204others(7): Show | 10 | HG01167.hp1 HG01884.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.239+1052G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483022 | ||||||
| chr2:71483023
|
G | A | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+1053G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483023 | ||||||
| chr2:71483039
|
G | A | 1 | a0001c0001t0001g0129 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.239+1069G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483039 | ||||||
| chr2:71483214
|
G | A | 50 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(47): Show | 50 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(47): Show |
intron_variant | MODIFIER | c.239+1244G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483214 | ||||||
| chr2:71483253
|
A | G | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.239+1283A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483253 | ||||||
| chr2:71483305
|
C | T | 4 | a0001c0012t0001g0033a0001c0089t0001g0024a0003c0044t0001g0023others(1): Show | 4 | HG02109.hp2 HG02717.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.239+1335C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483305 | ||||||
| chr2:71483365
|
A | G | 98 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(95): Show | 98 | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.239+1395A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483365 | ||||||
| chr2:71483485
|
G | A | 57 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(54): Show | 57 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.239+1515G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483485 | ||||||
| chr2:71483515
|
T | C | 67 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(64): Show | 67 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(64): Show |
intron_variant | MODIFIER | c.239+1545T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483515 | ||||||
| chr2:71483541
|
A | G | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+1571A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483541 | ||||||
| chr2:71483545
|
G | A | 39 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(36): Show | 39 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(36): Show |
intron_variant | MODIFIER | c.239+1575G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483545 | ||||||
| chr2:71483569
|
G | C | 113 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(110): Show | 113 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(110): Show |
intron_variant | MODIFIER | c.239+1599G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483569 | ||||||
| chr2:71483622
|
C | T | 3 | a0001c0077t0001g0050a0002c0021t0001g0042a0002c0021t0002g0149 | 3 | HG01884.hp2 HG02723.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239+1652C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483622 | ||||||
| chr2:71483711
|
G | A | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.239+1741G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483711 | ||||||
| chr2:71483733
|
G | A | 3 | a0001c0077t0001g0050a0002c0021t0001g0042a0002c0021t0002g0149 | 3 | HG01884.hp2 HG02723.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.239+1763G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483733 | ||||||
| chr2:71483823
|
C | T | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.239+1853C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483823 | ||||||
| chr2:71483946
|
G | A | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+1976G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71483946 | ||||||
| chr2:71484011
|
T | C | 142 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(139): Show | 142 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.239+2041T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484011 | ||||||
| chr2:71484045
|
C | CT | 46 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(43): Show | 46 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.239+2100dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484045
|
CT | C | 9 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(6): Show | 9 | HG00642.hp2 HG00735.hp2 HG01109.hp2 others(6): Show |
intron_variant | MODIFIER | c.239+2100delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484045
|
CTT | C | 22 | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0002g0194others(19): Show | 22 | HG00438.hp1 HG00438.hp2 HG01175.hp2 others(19): Show |
intron_variant | MODIFIER | c.239+2099_239+2100d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484045
|
CTTT | C | 97 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0105others(94): Show | 97 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(94): Show |
intron_variant | MODIFIER | c.239+2098_239+2100d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484045
|
CTTTT | C | 6 | a0001c0006t0002g0176a0001c0007t0004g0022a0001c0008t0002g0178others(3): Show | 6 | HG01109.hp1 HG03041.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.239+2097_239+2100d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484045
|
CTTTTT | C | 5 | a0001c0006t0003g0204a0001c0009t0008g0196a0001c0053t0001g0206others(2): Show | 5 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.239+2096_239+2100d others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484045 | |||||
| chr2:71484076
|
G | A | 1 | a0027c0059t0005g0117 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.239+2106G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484076 | ||||||
| chr2:71484166
|
C | T | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+2196C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484166 | ||||||
| chr2:71484368
|
A | G | 43 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(40): Show | 43 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(40): Show |
intron_variant | MODIFIER | c.239+2398A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484368 | ||||||
| chr2:71484397
|
T | C | 44 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(41): Show | 44 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.239+2427T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484397 | ||||||
| chr2:71484441
|
C | T | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+2471C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484441 | ||||||
| chr2:71484442
|
A | G | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.239+2472A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484442 | ||||||
| chr2:71484521
|
T | C | 97 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0124others(94): Show | 97 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(94): Show |
intron_variant | MODIFIER | c.239+2551T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484521 | ||||||
| chr2:71484658
|
C | G | 3 | a0001c0001t0001g0078a0001c0006t0001g0121a0002c0070t0001g0079 | 3 | HG00438.hp1 HG02040.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.239+2688C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484658 | ||||||
| chr2:71484761
|
G | A | 141 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0105others(138): Show | 141 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(138): Show |
intron_variant | MODIFIER | c.239+2791G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484761 | ||||||
| chr2:71484793
|
G | A | 128 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(125): Show | 128 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(125): Show |
intron_variant | MODIFIER | c.239+2823G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484793 | ||||||
| chr2:71484805
|
ACCAGG | A | 34 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(31): Show | 34 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.239+2837_239+2841d others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71484805 | |||||
| chr2:71484819
|
C | T | 39 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(36): Show | 39 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.239+2849C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484819 | ||||||
| chr2:71484898
|
C | T | 1 | a0001c0014t0002g0175 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.239+2928C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484898 | ||||||
| chr2:71484904
|
T | C | 2 | a0001c0032t0002g0193a0002c0075t0001g0138 | 2 | HG02258.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.239+2934T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484904 | ||||||
| chr2:71484929
|
G | A | 2 | a0001c0001t0002g0167a0001c0002t0002g0170 | 2 | NA18612.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.239+2959G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71484929 | ||||||
| chr2:71485148
|
G | T | 2 | a0004c0011t0001g0081a0004c0011t0001g0146 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.239+3178G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485148 | ||||||
| chr2:71485191
|
G | A | 94 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0082others(91): Show | 94 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.239+3221G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485191 | ||||||
| chr2:71485283
|
T | C | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.239+3313T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485283 | ||||||
| chr2:71485409
|
C | A | 38 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0203others(35): Show | 38 | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.239+3439C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485409 | ||||||
| chr2:71485481
|
G | A | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.239+3511G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485481 | ||||||
| chr2:71485572
|
C | T | 1 | a0001c0001t0002g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.239+3602C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485572 | ||||||
| chr2:71485738
|
T | C | 198 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(195): Show | 198 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(195): Show |
intron_variant | MODIFIER | c.239+3768T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485738 | ||||||
| chr2:71485787
|
A | C | 33 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(30): Show | 33 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.239+3817A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485787 | ||||||
| chr2:71485796
|
A | G | 25 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(22): Show | 25 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.239+3826A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485796 | ||||||
| chr2:71485878
|
T | A | 33 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(30): Show | 33 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.239+3908T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485878 | ||||||
| chr2:71485924
|
C | G | 33 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(30): Show | 33 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.239+3954C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71485924 | ||||||
| chr2:71486151
|
G | A | 1 | a0001c0024t0001g0054 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.239+4181G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486151 | ||||||
| chr2:71486297
|
C | T | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.239+4327C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486297 | ||||||
| chr2:71486421
|
T | C | 9 | a0001c0012t0001g0033a0001c0077t0001g0050a0001c0089t0001g0024others(6): Show | 9 | HG01099.hp1 HG01884.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.239+4451T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486421 | ||||||
| chr2:71486582
|
C | T | 1 | a0001c0002t0001g0067 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.239+4612C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486582 | ||||||
| chr2:71486608
|
T | C | 47 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0078others(44): Show | 47 | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(44): Show |
intron_variant | MODIFIER | c.239+4638T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486608 | ||||||
| chr2:71486632
|
A | T | 1 | a0014c0082t0002g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.239+4662A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486632 | ||||||
| chr2:71486916
|
C | G | 5 | a0001c0010t0001g0035a0001c0074t0001g0094a0024c0045t0001g0093others(2): Show | 5 | HG01884.hp1 HG01891.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.239+4946C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486916 | ||||||
| chr2:71486931
|
G | C | 176 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(173): Show | 176 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(173): Show |
intron_variant | MODIFIER | c.239+4961G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486931 | ||||||
| chr2:71486971
|
A | T | 1 | a0001c0001t0001g0002 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.239+5001A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71486971 | ||||||
| chr2:71487036
|
G | A | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.239+5066G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487036 | ||||||
| chr2:71487093
|
A | G | 172 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(169): Show | 172 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(169): Show |
intron_variant | MODIFIER | c.239+5123A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487093 | ||||||
| chr2:71487135
|
C | T | 4 | a0001c0001t0001g0130a0001c0003t0001g0127a0001c0017t0001g0133others(1): Show | 4 | NA18948.hp1 NA18952.hp1 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.239+5165C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487135 | ||||||
| chr2:71487242
|
G | T | 5 | a0001c0006t0003g0204a0001c0009t0008g0196a0001c0053t0001g0206others(2): Show | 5 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.239+5272G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487242 | ||||||
| chr2:71487398
|
A | G | 49 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(46): Show | 49 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(46): Show |
intron_variant | MODIFIER | c.239+5428A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487398 | ||||||
| chr2:71487587
|
C | T | 21 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0002g0167others(18): Show | 21 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.239+5617C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487587 | ||||||
| chr2:71487603
|
G | C | 39 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0203others(36): Show | 39 | HG01167.hp1 HG01167.hp2 HG01884.hp1 others(36): Show |
intron_variant | MODIFIER | c.239+5633G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487603 | ||||||
| chr2:71487607
|
C | G | 3 | a0001c0002t0001g0067a0001c0003t0001g0010a0001c0005t0001g0070 | 3 | HG02698.hp2 HG04199.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.239+5637C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487607 | ||||||
| chr2:71487631
|
C | T | 3 | a0001c0001t0001g0203a0001c0007t0004g0020a0001c0007t0004g0022 | 3 | HG01167.hp2 HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.239+5661C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487631 | ||||||
| chr2:71487633
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.239+5663C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487633 | ||||||
| chr2:71487683
|
G | A | 177 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(174): Show | 177 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(174): Show |
intron_variant | MODIFIER | c.239+5713G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487683 | ||||||
| chr2:71487796
|
A | G | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.239+5826A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487796 | ||||||
| chr2:71487804
|
T | C | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.239+5834T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487804 | ||||||
| chr2:71487851
|
T | C | 3 | a0001c0006t0002g0176a0001c0017t0001g0101a0001c0024t0001g0054 | 3 | HG01123.hp2 NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+5881T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71487851 | ||||||
| chr2:71488107
|
C | CA | 10 | a0001c0006t0003g0204a0001c0009t0008g0196a0001c0012t0001g0033others(7): Show | 10 | HG01099.hp1 HG01167.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.239+6148dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71488107 | |||||
| chr2:71488316
|
G | A | 3 | a0001c0006t0002g0176a0001c0017t0001g0101a0001c0024t0001g0054 | 3 | HG01123.hp2 NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+6346G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488316 | ||||||
| chr2:71488475
|
G | A | 53 | a0001c0001t0001g0037a0001c0001t0001g0105a0001c0001t0001g0106others(50): Show | 53 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(50): Show |
intron_variant | MODIFIER | c.239+6505G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488475 | ||||||
| chr2:71488535
|
A | G | 45 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(42): Show | 45 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(42): Show |
intron_variant | MODIFIER | c.239+6565A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488535 | ||||||
| chr2:71488550
|
C | T | 2 | a0001c0006t0002g0176a0001c0017t0001g0101 | 2 | NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+6580C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488550 | ||||||
| chr2:71488686
|
G | A | 170 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(167): Show | 170 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(167): Show |
intron_variant | MODIFIER | c.239+6716G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488686 | ||||||
| chr2:71488714
|
C | T | 1 | a0001c0001t0002g0184 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.239+6744C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488714 | ||||||
| chr2:71488820
|
G | A | 3 | a0001c0032t0002g0193a0002c0022t0001g0111a0002c0075t0001g0138 | 3 | HG02258.hp2 HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.239+6850G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488820 | ||||||
| chr2:71488938
|
G | T | 3 | a0001c0032t0002g0193a0002c0022t0001g0111a0002c0075t0001g0138 | 3 | HG02258.hp2 HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.239+6968G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488938 | ||||||
| chr2:71488944
|
A | G | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.239+6974A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488944 | ||||||
| chr2:71488949
|
CCTT | C | 19 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0010t0001g0035others(16): Show | 19 | HG01884.hp1 HG01891.hp2 HG02630.hp1 others(16): Show |
intron_variant | MODIFIER | c.239+6982_239+6984d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71488949 | |||||
| chr2:71488988
|
C | T | 170 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(167): Show | 170 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(167): Show |
intron_variant | MODIFIER | c.239+7018C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71488988 | ||||||
| chr2:71489364
|
C | T | 21 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0002g0167others(18): Show | 21 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.239+7394C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489364 | ||||||
| chr2:71489376
|
T | G | 44 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(41): Show | 44 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(41): Show |
intron_variant | MODIFIER | c.239+7406T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489376 | ||||||
| chr2:71489486
|
T | C | 2 | a0001c0006t0002g0176a0001c0017t0001g0101 | 2 | NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+7516T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489486 | ||||||
| chr2:71489520
|
T | G | 174 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(171): Show | 174 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(171): Show |
intron_variant | MODIFIER | c.239+7550T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489520 | ||||||
| chr2:71489553
|
T | C | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.239+7583T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489553 | ||||||
| chr2:71489610
|
T | C | 6 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(3): Show | 6 | HG00735.hp1 HG02717.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.239+7640T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489610 | ||||||
| chr2:71489646
|
C | A | 31 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0203others(28): Show | 31 | HG01109.hp1 HG01167.hp1 HG01167.hp2 others(28): Show |
intron_variant | MODIFIER | c.239+7676C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489646 | ||||||
| chr2:71489656
|
G | A | 33 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(30): Show | 33 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.239+7686G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489656 | ||||||
| chr2:71489715
|
G | T | 2 | a0001c0009t0001g0089a0016c0036t0001g0115 | 2 | HG01255.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.239+7745G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489715 | ||||||
| chr2:71489763
|
C | T | 11 | a0001c0015t0001g0034a0001c0015t0001g0207a0001c0016t0001g0026others(8): Show | 11 | HG02630.hp1 HG02647.hp1 HG02922.hp2 others(8): Show |
intron_variant | MODIFIER | c.239+7793C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489763 | ||||||
| chr2:71489816
|
G | A | 4 | a0001c0004t0003g0134a0001c0010t0005g0091a0011c0087t0001g0090others(1): Show | 4 | HG02615.hp1 HG02818.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.239+7846G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489816 | ||||||
| chr2:71489932
|
C | A | 174 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(171): Show | 174 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(171): Show |
intron_variant | MODIFIER | c.239+7962C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71489932 | ||||||
| chr2:71490092
|
C | T | 3 | a0001c0006t0002g0176a0001c0017t0001g0101a0001c0024t0001g0054 | 3 | HG01123.hp2 NA19064.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.239+8122C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490092 | ||||||
| chr2:71490159
|
A | T | 171 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(168): Show | 171 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(168): Show |
intron_variant | MODIFIER | c.239+8189A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490159 | ||||||
| chr2:71490200
|
A | T | 32 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(29): Show | 32 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.239+8230A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490200 | ||||||
| chr2:71490337
|
C | T | 11 | a0001c0001t0001g0037a0001c0004t0001g0080a0001c0012t0001g0147others(8): Show | 11 | HG01884.hp2 HG02280.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.239+8367C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490337 | ||||||
| chr2:71490402
|
C | T | 1 | a0001c0003t0001g0011 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.239+8432C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490402 | ||||||
| chr2:71490440
|
A | G | 39 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(36): Show | 39 | HG01167.hp2 HG01884.hp1 HG01884.hp2 others(36): Show |
intron_variant | MODIFIER | c.239+8470A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490440 | ||||||
| chr2:71490543
|
T | A | 76 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0105others(73): Show | 76 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(73): Show |
intron_variant | MODIFIER | c.239+8573T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490543 | ||||||
| chr2:71490544
|
C | G | 76 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0105others(73): Show | 76 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(73): Show |
intron_variant | MODIFIER | c.239+8574C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490544 | ||||||
| chr2:71490546
|
T | G | 32 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0002t0001g0067others(29): Show | 32 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.239+8576T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490546 | ||||||
| chr2:71490570
|
G | T | 49 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(46): Show | 49 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(46): Show |
intron_variant | MODIFIER | c.239+8600G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490570 | ||||||
| chr2:71490623
|
G | A | 49 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(46): Show | 49 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(46): Show |
intron_variant | MODIFIER | c.239+8653G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490623 | ||||||
| chr2:71490626
|
C | G | 1 | a0001c0003t0001g0114 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.239+8656C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490626 | ||||||
| chr2:71490667
|
G | A | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.239+8697G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490667 | ||||||
| chr2:71490765
|
C | G | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.239+8795C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490765 | ||||||
| chr2:71490831
|
G | A | 1 | a0001c0024t0001g0054 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.239+8861G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71490831 | ||||||
| chr2:71491196
|
T | G | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.239+9226T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491196 | ||||||
| chr2:71491238
|
G | A | 47 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(44): Show | 47 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(44): Show |
intron_variant | MODIFIER | c.239+9268G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491238 | ||||||
| chr2:71491269
|
A | G | 1 | a0001c0001t0002g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.239+9299A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491269 | ||||||
| chr2:71491486
|
T | A | 41 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(38): Show | 41 | HG01123.hp2 HG01167.hp2 HG01884.hp1 others(38): Show |
intron_variant | MODIFIER | c.239+9516T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491486 | ||||||
| chr2:71491725
|
C | T | 1 | a0001c0001t0002g0194 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.239+9755C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491725 | ||||||
| chr2:71491771
|
C | T | 1 | a0001c0006t0002g0176 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.239+9801C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491771 | ||||||
| chr2:71491790
|
C | T | 11 | a0001c0015t0001g0034a0001c0015t0001g0207a0001c0016t0001g0026others(8): Show | 11 | HG02630.hp1 HG02647.hp1 HG02922.hp2 others(8): Show |
intron_variant | MODIFIER | c.239+9820C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491790 | ||||||
| chr2:71491814
|
C | T | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.239+9844C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491814 | ||||||
| chr2:71491927
|
T | C | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.239+9957T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71491927 | ||||||
| chr2:71492102
|
T | C | 2 | a0001c0009t0001g0089a0016c0036t0001g0115 | 2 | HG01255.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.239+10132T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492102 | ||||||
| chr2:71492232
|
C | A | 5 | a0001c0004t0003g0112a0001c0004t0003g0113a0004c0011t0001g0081others(2): Show | 5 | HG01109.hp1 HG02109.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.239+10262C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492232 | ||||||
| chr2:71492232
|
C | T | 1 | a0001c0003t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.239+10262C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492232 | ||||||
| chr2:71492314
|
C | T | 2 | a0001c0006t0001g0121a0001c0081t0001g0018 | 2 | HG01071.hp1 NA18947.hp2 |
intron_variant | MODIFIER | c.239+10344C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492314 | ||||||
| chr2:71492315
|
G | C | 1 | a0001c0001t0001g0129 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.239+10345G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492315 | ||||||
| chr2:71492534
|
T | C | 4 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(1): Show | 4 | HG02717.hp1 HG03453.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.239+10564T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492534 | ||||||
| chr2:71492600
|
C | T | 1 | a0001c0002t0002g0173 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.240-10614C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492600 | ||||||
| chr2:71492675
|
CTTA | C | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.240-10528_240-1052 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71492675 | |||||
| chr2:71492698
|
T | TC | 11 | a0001c0001t0001g0203a0001c0001t0002g0168a0001c0002t0001g0003others(8): Show | 11 | HG00140.hp1 HG01081.hp2 HG01123.hp1 others(8): Show |
intron_variant | MODIFIER | c.240-10505dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71492698 | |||||
| chr2:71492698
|
TC | T | 79 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(76): Show | 79 | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(76): Show |
intron_variant | MODIFIER | c.240-10505delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71492698 | |||||
| chr2:71492698
|
TCC | T | 19 | a0001c0001t0001g0037a0001c0004t0001g0025a0001c0004t0001g0030others(16): Show | 19 | HG01884.hp2 HG02257.hp1 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.240-10506_240-1050 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71492698 | |||||
| chr2:71492706
|
C | T | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0086t0001g0198 | 3 | HG02109.hp1 HG02965.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.240-10508C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492706 | ||||||
| chr2:71492709
|
C | G | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0086t0001g0198 | 3 | HG02109.hp1 HG02965.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.240-10505C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492709 | ||||||
| chr2:71492723
|
G | A | 6 | a0001c0002t0002g0170a0001c0004t0003g0112a0001c0004t0003g0113others(3): Show | 6 | HG01123.hp2 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.240-10491G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492723 | ||||||
| chr2:71492956
|
A | G | 5 | a0001c0005t0001g0062a0001c0007t0002g0189a0001c0009t0001g0064others(2): Show | 5 | HG00140.hp2 HG01074.hp1 HG01081.hp1 others(2): Show |
intron_variant | MODIFIER | c.240-10258A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71492956 | ||||||
| chr2:71493059
|
A | G | 2 | a0001c0002t0001g0099a0001c0002t0002g0182 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.240-10155A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493059 | ||||||
| chr2:71493061
|
A | AT | 61 | a0001c0001t0001g0005a0001c0001t0001g0082a0001c0001t0001g0119others(58): Show | 61 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(58): Show |
intron_variant | MODIFIER | c.240-10145dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493061 | |||||
| chr2:71493062
|
T | TA | 2 | a0001c0050t0001g0028a0001c0085t0001g0029 | 2 | HG02809.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.240-10152_240-1015 others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493062 | ||||||
| chr2:71493063
|
T | A | 79 | a0001c0001t0001g0037a0001c0001t0001g0056a0001c0001t0001g0078others(76): Show | 79 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(76): Show |
intron_variant | MODIFIER | c.240-10151T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493063 | ||||||
| chr2:71493100
|
G | A | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-10114G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493100 | ||||||
| chr2:71493305
|
T | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.240-9909T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493305 | ||||||
| chr2:71493455
|
A | G | 2 | a0001c0010t0001g0142a0014c0082t0002g0150 | 2 | HG02055.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.240-9759A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493455 | ||||||
| chr2:71493494
|
G | C | 1 | a0002c0070t0001g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.240-9720G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493494 | ||||||
| chr2:71493532
|
A | G | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(200): Show | 203 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(200): Show |
intron_variant | MODIFIER | c.240-9682A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493532 | ||||||
| chr2:71493668
|
A | G | 97 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0082others(94): Show | 97 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(94): Show |
intron_variant | MODIFIER | c.240-9546A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493668 | ||||||
| chr2:71493711
|
G | A | 3 | a0001c0006t0002g0176a0001c0024t0001g0054a0001c0024t0001g0085 | 3 | HG01074.hp1 HG01123.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.240-9503G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493711 | ||||||
| chr2:71493724
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.240-9490C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493724 | ||||||
| chr2:71493775
|
C | A | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.240-9439C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71493775 | ||||||
| chr2:71493851
|
C | CA | 66 | a0001c0001t0001g0056a0001c0001t0001g0078a0001c0001t0001g0105others(63): Show | 66 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(63): Show |
intron_variant | MODIFIER | c.240-9340dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493851 | |||||
| chr2:71493851
|
C | CAA | 27 | a0001c0001t0001g0037a0001c0002t0002g0164a0001c0002t0002g0172others(24): Show | 27 | HG01099.hp1 HG01884.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.240-9341_240-9340d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493851 | |||||
| chr2:71493851
|
C | CAAA | 58 | a0001c0001t0001g0005a0001c0001t0001g0082a0001c0001t0001g0124others(55): Show | 58 | HG00438.hp1 HG00642.hp2 HG00735.hp1 others(55): Show |
intron_variant | MODIFIER | c.240-9342_240-9340d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493851 | |||||
| chr2:71493851
|
C | CAAAA | 26 | a0001c0001t0001g0002a0001c0001t0001g0119a0001c0001t0002g0167others(23): Show | 26 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.240-9343_240-9340d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493851 | |||||
| chr2:71493851
|
C | CAAAAA | 5 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0085t0001g0029others(2): Show | 5 | HG00738.hp2 HG02615.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.240-9344_240-9340d others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493851 | |||||
| chr2:71493853
|
AAAAAAAA others(15): Show |
A | 4 | a0001c0002t0002g0156a0001c0003t0001g0055a0001c0003t0001g0098others(1): Show | 4 | HG00673.hp1 HG02040.hp1 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.240-9357_240-9336d others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71493853 | |||||
| chr2:71494004
|
G | T | 1 | a0001c0001t0002g0194 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.240-9210G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494004 | ||||||
| chr2:71494039
|
T | G | 2 | a0001c0057t0001g0009a0012c0055t0001g0063 | 2 | HG00140.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.240-9175T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494039 | ||||||
| chr2:71494070
|
G | C | 21 | a0001c0001t0001g0002a0001c0001t0002g0167a0001c0001t0002g0168others(18): Show | 21 | HG00438.hp2 HG00558.hp2 HG00738.hp2 others(18): Show |
intron_variant | MODIFIER | c.240-9144G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494070 | ||||||
| chr2:71494326
|
A | G | 187 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(184): Show | 187 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(184): Show |
intron_variant | MODIFIER | c.240-8888A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494326 | ||||||
| chr2:71494475
|
A | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8739A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494475 | ||||||
| chr2:71494479
|
C | T | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8735C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494479 | ||||||
| chr2:71494601
|
T | C | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8613T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494601 | ||||||
| chr2:71494761
|
C | T | 5 | a0001c0003t0002g0161a0001c0015t0001g0207a0001c0031t0001g0120others(2): Show | 5 | HG01433.hp1 HG01981.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.240-8453C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494761 | ||||||
| chr2:71494897
|
A | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8317A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494897 | ||||||
| chr2:71494966
|
A | G | 186 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(183): Show | 186 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(183): Show |
intron_variant | MODIFIER | c.240-8248A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494966 | ||||||
| chr2:71494998
|
T | A | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.240-8216T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71494998 | ||||||
| chr2:71495087
|
G | C | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.240-8127G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495087 | ||||||
| chr2:71495087
|
G | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-8127G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495087 | ||||||
| chr2:71495093
|
T | C | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8121T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495093 | ||||||
| chr2:71495102
|
T | C | 119 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0082others(116): Show | 119 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
intron_variant | MODIFIER | c.240-8112T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495102 | ||||||
| chr2:71495138
|
T | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-8076T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495138 | ||||||
| chr2:71495151
|
C | G | 1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.240-8063C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495151 | ||||||
| chr2:71495160
|
A | G | 5 | a0001c0003t0001g0043a0001c0050t0001g0028a0002c0023t0001g0036others(2): Show | 5 | HG01891.hp1 HG02809.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.240-8054A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495160 | ||||||
| chr2:71495163
|
A | G | 205 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(202): Show | 205 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(202): Show |
intron_variant | MODIFIER | c.240-8051A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495163 | ||||||
| chr2:71495172
|
G | A | 1 | a0001c0086t0001g0198 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.240-8042G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495172 | ||||||
| chr2:71495180
|
C | T | 4 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(1): Show | 4 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-8034C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495180 | ||||||
| chr2:71495253
|
T | TTGAA | 10 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(7): Show | 10 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(7): Show |
intron_variant | MODIFIER | c.240-7945_240-7942d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71495253 | |||||
| chr2:71495259
|
G | T | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0084t0001g0038 | 3 | HG00735.hp1 HG02257.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.240-7955G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495259 | ||||||
| chr2:71495388
|
T | C | 4 | a0001c0006t0002g0151a0001c0006t0002g0176a0001c0024t0001g0054others(1): Show | 4 | HG01074.hp1 HG01123.hp2 HG02074.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-7826T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495388 | ||||||
| chr2:71495507
|
C | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-7707C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495507 | ||||||
| chr2:71495533
|
C | T | 1 | a0001c0007t0002g0189 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.240-7681C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495533 | ||||||
| chr2:71495571
|
C | G | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.240-7643C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495571 | ||||||
| chr2:71495715
|
G | A | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0084t0001g0038 | 3 | HG00735.hp1 HG02257.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.240-7499G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495715 | ||||||
| chr2:71495870
|
G | C | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.240-7344G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495870 | ||||||
| chr2:71495939
|
T | C | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-7275T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71495939 | ||||||
| chr2:71496412
|
C | T | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.240-6802C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496412 | ||||||
| chr2:71496456
|
C | T | 1 | a0001c0001t0001g0137 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.240-6758C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496456 | ||||||
| chr2:71496551
|
C | A | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-6663C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496551 | ||||||
| chr2:71496551
|
C | T | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.240-6663C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496551 | ||||||
| chr2:71496552
|
G | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-6662G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496552 | ||||||
| chr2:71496561
|
G | A | 113 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0082others(110): Show | 113 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(110): Show |
intron_variant | MODIFIER | c.240-6653G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496561 | ||||||
| chr2:71496608
|
G | A | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.240-6606G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496608 | ||||||
| chr2:71496720
|
C | T | 4 | a0001c0006t0002g0151a0001c0006t0002g0176a0001c0024t0001g0054others(1): Show | 4 | HG01074.hp1 HG01123.hp2 HG02074.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-6494C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496720 | ||||||
| chr2:71496722
|
A | G | 6 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0015t0001g0034others(3): Show | 6 | HG02615.hp2 HG03041.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.240-6492A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496722 | ||||||
| chr2:71496735
|
C | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-6479C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496735 | ||||||
| chr2:71496753
|
C | T | 54 | a0001c0001t0001g0056a0001c0001t0001g0078a0001c0001t0001g0105others(51): Show | 54 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.240-6461C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496753 | ||||||
| chr2:71496766
|
G | C | 36 | a0001c0001t0001g0002a0001c0001t0002g0167a0001c0001t0002g0168others(33): Show | 36 | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.240-6448G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496766 | ||||||
| chr2:71496851
|
T | G | 1 | a0001c0002t0002g0172 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.240-6363T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496851 | ||||||
| chr2:71496903
|
A | G | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-6311A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496903 | ||||||
| chr2:71496936
|
G | C | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-6278G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71496936 | ||||||
| chr2:71497058
|
T | C | 1 | a0001c0086t0001g0198 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.240-6156T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497058 | ||||||
| chr2:71497124
|
A | G | 106 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0082others(103): Show | 106 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(103): Show |
intron_variant | MODIFIER | c.240-6090A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497124 | ||||||
| chr2:71497232
|
T | C | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-5982T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497232 | ||||||
| chr2:71497266
|
G | A | 31 | a0001c0001t0001g0002a0001c0001t0002g0167a0001c0001t0002g0168others(28): Show | 31 | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.240-5948G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497266 | ||||||
| chr2:71497273
|
G | GT | 9 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0015t0001g0207others(6): Show | 9 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-5936dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71497273 | |||||
| chr2:71497300
|
C | T | 197 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(194): Show | 197 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(194): Show |
intron_variant | MODIFIER | c.240-5914C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497300 | ||||||
| chr2:71497413
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.240-5801C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497413 | ||||||
| chr2:71497417
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-5797C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497417 | ||||||
| chr2:71497502
|
T | G | 7 | a0001c0003t0002g0161a0001c0009t0008g0196a0001c0031t0001g0120others(4): Show | 7 | HG01167.hp1 HG01433.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.240-5712T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497502 | ||||||
| chr2:71497607
|
T | C | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.240-5607T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497607 | ||||||
| chr2:71497686
|
C | T | 4 | a0001c0003t0002g0161a0001c0031t0001g0120a0001c0074t0001g0094others(1): Show | 4 | HG01433.hp1 HG01981.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.240-5528C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497686 | ||||||
| chr2:71497786
|
C | A | 3 | a0001c0003t0002g0161a0001c0031t0001g0120a0002c0021t0002g0149 | 3 | HG01433.hp1 HG01981.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.240-5428C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497786 | ||||||
| chr2:71497831
|
T | C | 2 | a0001c0001t0001g0049a0001c0025t0002g0191 | 2 | HG01123.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.240-5383T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497831 | ||||||
| chr2:71497893
|
C | G | 4 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(1): Show | 4 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-5321C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497893 | ||||||
| chr2:71497988
|
C | T | 1 | a0001c0005t0001g0143 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.240-5226C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71497988 | ||||||
| chr2:71498043
|
A | C | 54 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(51): Show | 54 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(51): Show |
intron_variant | MODIFIER | c.240-5171A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498043 | ||||||
| chr2:71498121
|
G | A | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.240-5093G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498121 | ||||||
| chr2:71498161
|
A | G | 9 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0015t0001g0034others(6): Show | 9 | HG01109.hp1 HG02615.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.240-5053A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498161 | ||||||
| chr2:71498169
|
G | A | 4 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(1): Show | 4 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-5045G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498169 | ||||||
| chr2:71498322
|
A | T | 10 | a0001c0012t0001g0033a0001c0016t0001g0026a0001c0016t0001g0027others(7): Show | 10 | HG01884.hp2 HG02109.hp2 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.240-4892A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498322 | ||||||
| chr2:71498449
|
C | A | 2 | a0001c0003t0002g0161a0001c0031t0001g0120 | 2 | HG01433.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.240-4765C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498449 | ||||||
| chr2:71498468
|
G | A | 5 | a0001c0003t0002g0161a0001c0031t0001g0120a0001c0074t0001g0094others(2): Show | 5 | HG01433.hp1 HG01981.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.240-4746G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498468 | ||||||
| chr2:71498570
|
C | T | 1 | a0001c0003t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.240-4644C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498570 | ||||||
| chr2:71498579
|
T | C | 2 | a0004c0011t0001g0081a0004c0011t0001g0146 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.240-4635T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498579 | ||||||
| chr2:71498662
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.240-4552C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498662 | ||||||
| chr2:71498796
|
C | T | 52 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(49): Show | 52 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.240-4418C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498796 | ||||||
| chr2:71498821
|
T | A | 1 | a0001c0002t0001g0069 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.240-4393T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498821 | ||||||
| chr2:71498856
|
C | T | 2 | a0001c0015t0001g0207a0018c0041t0001g0118 | 2 | HG02922.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.240-4358C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71498856 | ||||||
| chr2:71499337
|
GT | G | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.240-3875delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71499337 | |||||
| chr2:71499340
|
C | A | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.240-3874C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499340 | ||||||
| chr2:71499475
|
T | A | 1 | a0001c0002t0001g0102 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.240-3739T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499475 | ||||||
| chr2:71499567
|
C | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.240-3647C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499567 | ||||||
| chr2:71499664
|
T | G | 36 | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0119others(33): Show | 36 | HG01071.hp1 HG01074.hp1 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.240-3550T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499664 | ||||||
| chr2:71499715
|
C | G | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-3499C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499715 | ||||||
| chr2:71499915
|
T | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.240-3299T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499915 | ||||||
| chr2:71499984
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.240-3230C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71499984 | ||||||
| chr2:71500173
|
T | C | 4 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(1): Show | 4 | HG02257.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-3041T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500173 | ||||||
| chr2:71500202
|
A | G | 1 | a0001c0013t0001g0057 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.240-3012A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500202 | ||||||
| chr2:71500229
|
G | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.240-2985G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500229 | ||||||
| chr2:71500242
|
G | A | 1 | a0001c0002t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.240-2972G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500242 | ||||||
| chr2:71500249
|
A | T | 4 | a0001c0012t0001g0033a0001c0016t0001g0026a0001c0016t0001g0027others(1): Show | 4 | HG02109.hp2 HG03098.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-2965A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500249 | ||||||
| chr2:71500268
|
T | C | 40 | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0119others(37): Show | 40 | HG01071.hp1 HG01074.hp1 HG01109.hp1 others(37): Show |
intron_variant | MODIFIER | c.240-2946T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500268 | ||||||
| chr2:71500340
|
A | G | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.240-2874A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500340 | ||||||
| chr2:71500353
|
C | G | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.240-2861C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500353 | ||||||
| chr2:71500631
|
C | G | 1 | a0002c0021t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.240-2583C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500631 | ||||||
| chr2:71500748
|
T | C | 6 | a0001c0001t0001g0002a0001c0005t0001g0087a0001c0009t0001g0089others(3): Show | 6 | HG00738.hp2 HG01255.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.240-2466T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500748 | ||||||
| chr2:71500764
|
C | A | 4 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(1): Show | 4 | HG02257.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.240-2450C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500764 | ||||||
| chr2:71500782
|
C | T | 3 | a0001c0078t0001g0199a0001c0079t0001g0068a0003c0043t0001g0116 | 3 | HG02055.hp2 HG03453.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.240-2432C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500782 | ||||||
| chr2:71500794
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.240-2420G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500794 | ||||||
| chr2:71500849
|
C | T | 11 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0010t0001g0041others(8): Show | 11 | HG00438.hp1 HG00735.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.240-2365C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500849 | ||||||
| chr2:71500872
|
C | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.240-2342C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500872 | ||||||
| chr2:71500887
|
A | G | 2 | a0001c0009t0008g0196a0001c0060t0001g0197 | 2 | HG01167.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.240-2327A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71500887 | ||||||
| chr2:71501056
|
C | T | 6 | a0001c0015t0001g0207a0003c0044t0001g0023a0004c0011t0001g0081others(3): Show | 6 | HG01109.hp1 HG02922.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.240-2158C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501056 | ||||||
| chr2:71501061
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0146a0009c0029t0005g0084 | 3 | HG01109.hp1 HG03139.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.240-2153C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501061 | ||||||
| chr2:71501320
|
G | A | 4 | a0001c0003t0002g0161a0001c0031t0001g0120a0001c0074t0001g0094others(1): Show | 4 | HG01433.hp1 HG01981.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.240-1894G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501320 | ||||||
| chr2:71501530
|
C | G | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.240-1684C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501530 | ||||||
| chr2:71501696
|
G | A | 11 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0010t0001g0041others(8): Show | 11 | HG00438.hp1 HG00735.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.240-1518G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501696 | ||||||
| chr2:71501790
|
G | A | 71 | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0119others(68): Show | 71 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(68): Show |
intron_variant | MODIFIER | c.240-1424G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501790 | ||||||
| chr2:71501873
|
T | C | 3 | a0001c0015t0001g0207a0003c0044t0001g0023a0018c0041t0001g0118 | 3 | HG02922.hp2 HG03225.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.240-1341T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501873 | ||||||
| chr2:71501876
|
A | G | 16 | a0001c0001t0001g0002a0001c0001t0002g0168a0001c0001t0002g0179others(13): Show | 16 | HG00438.hp2 HG00738.hp2 HG01255.hp2 others(13): Show |
intron_variant | MODIFIER | c.240-1338A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71501876 | ||||||
| chr2:71502003
|
G | A | 77 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0082others(74): Show | 77 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(74): Show |
intron_variant | MODIFIER | c.240-1211G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502003 | ||||||
| chr2:71502079
|
C | CTG | 5 | a0001c0009t0008g0196a0001c0050t0001g0028a0001c0053t0001g0206others(2): Show | 5 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.240-1093_240-1092d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
C | CTGTG | 10 | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0119others(7): Show | 10 | HG01071.hp1 HG01074.hp1 HG01123.hp1 others(7): Show |
intron_variant | MODIFIER | c.240-1095_240-1092d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
CTG | C | 22 | a0001c0001t0001g0056a0001c0002t0001g0040a0001c0004t0003g0112others(19): Show | 22 | HG00735.hp1 HG01109.hp1 HG01934.hp1 others(19): Show |
intron_variant | MODIFIER | c.240-1093_240-1092d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
CTGTG | C | 18 | a0001c0001t0001g0135a0001c0001t0002g0167a0001c0001t0002g0168others(15): Show | 18 | HG00738.hp2 HG01433.hp2 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.240-1095_240-1092d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
CTGTGTG | C | 18 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0002t0001g0052others(15): Show | 18 | HG00438.hp2 HG01099.hp1 HG01255.hp2 others(15): Show |
intron_variant | MODIFIER | c.240-1097_240-1092d others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
CTGTGTGT others(1): Show |
C | 56 | a0001c0001t0001g0005a0001c0001t0001g0124a0001c0001t0001g0125others(53): Show | 56 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(53): Show |
intron_variant | MODIFIER | c.240-1099_240-1092d others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502079
|
CTGTGTGT others(3): Show |
C | 7 | a0001c0003t0002g0161a0001c0005t0001g0074a0001c0005t0002g0177others(4): Show | 7 | HG00673.hp1 HG01433.hp1 HG01981.hp1 others(4): Show |
intron_variant | MODIFIER | c.240-1101_240-1092d others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 71502079 | |||||
| chr2:71502191
|
C | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.240-1023C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502191 | ||||||
| chr2:71502304
|
C | G | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.240-910C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502304 | ||||||
| chr2:71502538
|
C | G | 1 | a0001c0001t0001g0078 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.240-676C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502538 | ||||||
| chr2:71502550
|
G | A | 12 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(9): Show | 12 | HG01109.hp1 HG02257.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.240-664G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502550 | ||||||
| chr2:71502554
|
C | T | 5 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(2): Show | 5 | HG01167.hp1 HG02055.hp2 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.240-660C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502554 | ||||||
| chr2:71502656
|
A | G | 99 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0082others(96): Show | 99 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.240-558A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502656 | ||||||
| chr2:71502760
|
A | G | 2 | a0001c0006t0002g0151a0001c0006t0002g0176 | 2 | HG02074.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.240-454A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502760 | ||||||
| chr2:71502925
|
G | A | 74 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0082others(71): Show | 74 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(71): Show |
intron_variant | MODIFIER | c.240-289G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71502925 | ||||||
| chr2:71503019
|
C | T | 12 | a0001c0004t0003g0112a0001c0006t0002g0151a0001c0006t0002g0176others(9): Show | 12 | HG01074.hp1 HG01123.hp2 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.240-195C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71503019 | ||||||
| chr2:71503111
|
C | T | 1 | a0002c0070t0001g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.240-103C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 3/55 | chr2 | 71503111 | ||||||
| chr2:71503551
|
C | T | 10 | a0001c0007t0002g0148a0001c0008t0001g0109a0001c0010t0001g0041others(7): Show | 10 | HG00438.hp1 HG00735.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.345+232C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71503551 | ||||||
| chr2:71503607
|
C | T | 1 | a0001c0057t0001g0009 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.345+288C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71503607 | ||||||
| chr2:71503916
|
T | C | 203 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(200): Show | 203 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(200): Show |
intron_variant | MODIFIER | c.345+597T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71503916 | ||||||
| chr2:71503988
|
C | G | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.345+669C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71503988 | ||||||
| chr2:71504031
|
G | C | 98 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(95): Show | 98 | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(95): Show |
intron_variant | MODIFIER | c.345+712G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504031 | ||||||
| chr2:71504031
|
G | T | 5 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(2): Show | 5 | HG01167.hp1 HG02280.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.345+712G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504031 | ||||||
| chr2:71504047
|
T | C | 107 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(104): Show | 107 | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.345+728T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504047 | ||||||
| chr2:71504531
|
C | T | 6 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(3): Show | 6 | HG02717.hp1 HG03453.hp2 HG03579.hp2 others(3): Show |
intron_variant | MODIFIER | c.345+1212C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504531 | ||||||
| chr2:71504533
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.345+1214C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504533 | ||||||
| chr2:71504593
|
G | T | 1 | a0001c0001t0001g0105 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.345+1274G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504593 | ||||||
| chr2:71504659
|
G | A | 78 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0124others(75): Show | 78 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(75): Show |
intron_variant | MODIFIER | c.345+1340G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504659 | ||||||
| chr2:71504822
|
T | C | 104 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(101): Show | 104 | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(101): Show |
intron_variant | MODIFIER | c.345+1503T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71504822 | ||||||
| chr2:71505097
|
T | G | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.345+1778T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505097 | ||||||
| chr2:71505287
|
G | T | 77 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0124others(74): Show | 77 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(74): Show |
intron_variant | MODIFIER | c.345+1968G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505287 | ||||||
| chr2:71505340
|
G | C | 78 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0124others(75): Show | 78 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(75): Show |
intron_variant | MODIFIER | c.345+2021G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505340 | ||||||
| chr2:71505476
|
T | C | 6 | a0001c0009t0008g0196a0001c0053t0001g0206a0001c0060t0001g0197others(3): Show | 6 | HG01099.hp1 HG01167.hp1 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.345+2157T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505476 | ||||||
| chr2:71505519
|
T | C | 2 | a0004c0011t0001g0081a0004c0011t0001g0146 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.345+2200T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505519 | ||||||
| chr2:71505525
|
C | T | 3 | a0001c0004t0003g0134a0001c0010t0005g0091a0011c0087t0001g0090 | 3 | HG02818.hp1 HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.345+2206C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505525 | ||||||
| chr2:71505526
|
G | A | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.345+2207G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505526 | ||||||
| chr2:71505595
|
G | A | 4 | a0001c0006t0002g0151a0001c0006t0002g0176a0001c0024t0001g0054others(1): Show | 4 | HG01074.hp1 HG01123.hp2 HG02074.hp1 others(1): Show |
intron_variant | MODIFIER | c.345+2276G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505595 | ||||||
| chr2:71505610
|
A | G | 27 | a0001c0001t0001g0002a0001c0001t0002g0168a0001c0001t0002g0179others(24): Show | 27 | HG00438.hp2 HG00738.hp2 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.345+2291A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505610 | ||||||
| chr2:71505746
|
C | T | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.345+2427C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505746 | ||||||
| chr2:71505807
|
C | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.345+2488C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505807 | ||||||
| chr2:71505815
|
C | T | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.345+2496C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505815 | ||||||
| chr2:71505873
|
T | C | 130 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(127): Show | 130 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.345+2554T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505873 | ||||||
| chr2:71505925
|
C | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.345+2606C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71505925 | ||||||
| chr2:71506159
|
G | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.345+2840G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506159 | ||||||
| chr2:71506171
|
A | G | 2 | a0001c0025t0002g0191a0001c0081t0001g0018 | 2 | HG01071.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.345+2852A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506171 | ||||||
| chr2:71506186
|
G | A | 27 | a0001c0001t0001g0002a0001c0001t0002g0168a0001c0001t0002g0179others(24): Show | 27 | HG00438.hp2 HG00738.hp2 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.345+2867G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506186 | ||||||
| chr2:71506299
|
G | A | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.345+2980G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506299 | ||||||
| chr2:71506357
|
G | A | 1 | a0001c0002t0002g0181 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.345+3038G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506357 | ||||||
| chr2:71506401
|
G | C | 129 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(126): Show | 129 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.345+3082G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506401 | ||||||
| chr2:71506452
|
C | T | 52 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(49): Show | 52 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.345+3133C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506452 | ||||||
| chr2:71506490
|
A | G | 129 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(126): Show | 129 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.345+3171A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506490 | ||||||
| chr2:71506498
|
A | AC | 59 | a0001c0001t0001g0002a0001c0001t0002g0168a0001c0001t0002g0179others(56): Show | 59 | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(56): Show |
intron_variant | MODIFIER | c.345+3180dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 71506498 | |||||
| chr2:71506534
|
C | T | 122 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(119): Show | 122 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.345+3215C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506534 | ||||||
| chr2:71506634
|
T | C | 128 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(125): Show | 128 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(125): Show |
intron_variant | MODIFIER | c.345+3315T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506634 | ||||||
| chr2:71506721
|
T | A | 129 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(126): Show | 129 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(126): Show |
intron_variant | MODIFIER | c.345+3402T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506721 | ||||||
| chr2:71506811
|
A | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.345+3492A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506811 | ||||||
| chr2:71506846
|
C | T | 4 | a0001c0006t0002g0151a0001c0006t0002g0176a0001c0024t0001g0054others(1): Show | 4 | HG01074.hp1 HG01123.hp2 HG02074.hp1 others(1): Show |
intron_variant | MODIFIER | c.345+3527C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506846 | ||||||
| chr2:71506910
|
C | A | 1 | a0001c0001t0001g0056 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.345+3591C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506910 | ||||||
| chr2:71506999
|
C | T | 1 | a0027c0059t0005g0117 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.345+3680C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71506999 | ||||||
| chr2:71507086
|
C | T | 2 | a0003c0044t0001g0023a0028c0068t0001g0202 | 2 | HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.345+3767C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507086 | ||||||
| chr2:71507144
|
A | G | 113 | a0001c0001t0001g0002a0001c0001t0001g0082a0001c0001t0001g0119others(110): Show | 113 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(110): Show |
intron_variant | MODIFIER | c.345+3825A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507144 | ||||||
| chr2:71507178
|
G | T | 1 | a0001c0002t0002g0181 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.345+3859G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507178 | ||||||
| chr2:71507226
|
G | C | 1 | a0001c0001t0002g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.345+3907G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507226 | ||||||
| chr2:71507227
|
T | C | 102 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(99): Show | 102 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(99): Show |
intron_variant | MODIFIER | c.345+3908T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507227 | ||||||
| chr2:71507230
|
G | C | 1 | a0001c0002t0002g0172 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.345+3911G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507230 | ||||||
| chr2:71507301
|
G | T | 65 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(62): Show | 65 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(62): Show |
intron_variant | MODIFIER | c.345+3982G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507301 | ||||||
| chr2:71507343
|
A | C | 22 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(19): Show | 22 | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.345+4024A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507343 | ||||||
| chr2:71507354
|
T | A | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.345+4035T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507354 | ||||||
| chr2:71507360
|
C | T | 64 | a0001c0001t0001g0106a0001c0001t0001g0124a0001c0001t0001g0125others(61): Show | 64 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.345+4041C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507360 | ||||||
| chr2:71507405
|
T | C | 2 | a0001c0031t0001g0120a0001c0048t0002g0190 | 2 | HG01981.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.345+4086T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507405 | ||||||
| chr2:71507607
|
G | A | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.346-4200G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507607 | ||||||
| chr2:71507751
|
C | G | 14 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0005g0091others(11): Show | 14 | HG01071.hp1 HG01123.hp1 HG01261.hp1 others(11): Show |
intron_variant | MODIFIER | c.346-4056C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507751 | ||||||
| chr2:71507768
|
G | C | 77 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(74): Show | 77 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.346-4039G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507768 | ||||||
| chr2:71507824
|
T | A | 76 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(73): Show | 76 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(73): Show |
intron_variant | MODIFIER | c.346-3983T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507824 | ||||||
| chr2:71507885
|
G | C | 8 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0024t0001g0054others(5): Show | 8 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.346-3922G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507885 | ||||||
| chr2:71507917
|
A | G | 120 | a0001c0001t0001g0002a0001c0001t0001g0037a0001c0001t0001g0124others(117): Show | 120 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(117): Show |
intron_variant | MODIFIER | c.346-3890A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507917 | ||||||
| chr2:71507946
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.346-3861G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71507946 | ||||||
| chr2:71508258
|
C | T | 24 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0024t0001g0054others(21): Show | 24 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.346-3549C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508258 | ||||||
| chr2:71508294
|
A | C | 4 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0085t0001g0029others(1): Show | 4 | HG02615.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-3513A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508294 | ||||||
| chr2:71508347
|
C | T | 13 | a0001c0067t0001g0083a0001c0074t0001g0094a0002c0021t0001g0042others(10): Show | 13 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(10): Show |
intron_variant | MODIFIER | c.346-3460C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508347 | ||||||
| chr2:71508372
|
G | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.346-3435G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508372 | ||||||
| chr2:71508513
|
G | C | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.346-3294G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508513 | ||||||
| chr2:71508546
|
T | C | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(4): Show | 7 | HG01109.hp1 HG02717.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.346-3261T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508546 | ||||||
| chr2:71508633
|
T | C | 34 | a0001c0005t0001g0087a0001c0007t0001g0139a0001c0007t0002g0148others(31): Show | 34 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(31): Show |
intron_variant | MODIFIER | c.346-3174T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508633 | ||||||
| chr2:71508639
|
G | A | 21 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(18): Show | 21 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.346-3168G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508639 | ||||||
| chr2:71508681
|
G | A | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.346-3126G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508681 | ||||||
| chr2:71508801
|
T | C | 4 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0085t0001g0029others(1): Show | 4 | HG02615.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-3006T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508801 | ||||||
| chr2:71508876
|
G | A | 1 | a0001c0012t0001g0033 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.346-2931G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508876 | ||||||
| chr2:71508938
|
C | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.346-2869C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71508938 | ||||||
| chr2:71509117
|
A | G | 11 | a0002c0021t0001g0042a0002c0021t0002g0149a0002c0022t0001g0111others(8): Show | 11 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.346-2690A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509117 | ||||||
| chr2:71509205
|
C | T | 17 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(14): Show | 17 | HG00438.hp1 HG01255.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.346-2602C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509205 | ||||||
| chr2:71509329
|
A | T | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.346-2478A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509329 | ||||||
| chr2:71509456
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.346-2351C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509456 | ||||||
| chr2:71509500
|
G | C | 22 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(19): Show | 22 | HG01884.hp1 HG01981.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.346-2307G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509500 | ||||||
| chr2:71509541
|
TCA | T | 4 | a0001c0005t0001g0074a0001c0005t0002g0177a0001c0014t0002g0175others(1): Show | 4 | HG00140.hp2 HG00642.hp1 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-2265_346-2264d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509541 | ||||||
| chr2:71509585
|
G | A | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.346-2222G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509585 | ||||||
| chr2:71509676
|
T | C | 74 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(71): Show | 74 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(71): Show |
intron_variant | MODIFIER | c.346-2131T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509676 | ||||||
| chr2:71509734
|
C | T | 15 | a0001c0001t0002g0179a0001c0006t0001g0072a0001c0006t0001g0121others(12): Show | 15 | HG00438.hp2 HG00738.hp2 HG02074.hp1 others(12): Show |
intron_variant | MODIFIER | c.346-2073C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509734 | ||||||
| chr2:71509749
|
A | G | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.346-2058A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509749 | ||||||
| chr2:71509853
|
G | T | 18 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0006t0001g0072others(15): Show | 18 | HG00438.hp2 HG00738.hp2 HG02074.hp1 others(15): Show |
intron_variant | MODIFIER | c.346-1954G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509853 | ||||||
| chr2:71509880
|
A | G | 1 | a0001c0003t0001g0098 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.346-1927A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509880 | ||||||
| chr2:71509905
|
A | G | 2 | a0003c0043t0001g0116a0003c0044t0001g0023 | 2 | HG02055.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.346-1902A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509905 | ||||||
| chr2:71509932
|
C | T | 6 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(3): Show | 6 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.346-1875C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509932 | ||||||
| chr2:71509943
|
T | C | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.346-1864T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71509943 | ||||||
| chr2:71510015
|
A | G | 35 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0006t0001g0072others(32): Show | 35 | HG00438.hp2 HG00735.hp2 HG00738.hp2 others(32): Show |
intron_variant | MODIFIER | c.346-1792A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510015 | ||||||
| chr2:71510043
|
G | A | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(1): Show | 4 | HG01255.hp2 HG02258.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.346-1764G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510043 | ||||||
| chr2:71510065
|
G | A | 1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.346-1742G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510065 | ||||||
| chr2:71510107
|
T | G | 4 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0085t0001g0029others(1): Show | 4 | HG02615.hp2 HG03041.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-1700T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510107 | ||||||
| chr2:71510156
|
G | C | 3 | a0001c0001t0001g0056a0001c0002t0002g0155a0013c0054t0002g0169 | 3 | HG02083.hp2 HG03704.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.346-1651G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510156 | ||||||
| chr2:71510204
|
C | A | 68 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(65): Show | 68 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.346-1603C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510204 | ||||||
| chr2:71510259
|
A | G | 35 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0006t0001g0072others(32): Show | 35 | HG00438.hp2 HG00735.hp2 HG00738.hp2 others(32): Show |
intron_variant | MODIFIER | c.346-1548A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510259 | ||||||
| chr2:71510348
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.346-1459C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510348 | ||||||
| chr2:71510389
|
G | A | 23 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0006t0001g0072others(20): Show | 23 | HG00438.hp2 HG00738.hp2 HG02074.hp1 others(20): Show |
intron_variant | MODIFIER | c.346-1418G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510389 | ||||||
| chr2:71510900
|
C | T | 1 | a0008c0091t0002g0174 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.346-907C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510900 | ||||||
| chr2:71510908
|
T | C | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.346-899T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510908 | ||||||
| chr2:71510983
|
G | A | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.346-824G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71510983 | ||||||
| chr2:71511042
|
A | G | 51 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0005t0001g0087others(48): Show | 51 | HG00438.hp1 HG00438.hp2 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.346-765A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511042 | ||||||
| chr2:71511177
|
T | A | 1 | a0001c0051t0002g0195 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.346-630T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511177 | ||||||
| chr2:71511255
|
C | T | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(17): Show |
intron_variant | MODIFIER | c.346-552C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511255 | ||||||
| chr2:71511295
|
C | T | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.346-512C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511295 | ||||||
| chr2:71511400
|
A | G | 2 | a0001c0002t0001g0099a0001c0002t0002g0182 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.346-407A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511400 | ||||||
| chr2:71511407
|
G | A | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.346-400G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511407 | ||||||
| chr2:71511423
|
G | A | 1 | a0001c0047t0003g0145 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.346-384G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511423 | ||||||
| chr2:71511712
|
C | T | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG02109.hp1 HG02647.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.346-95C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511712 | ||||||
| chr2:71511765
|
G | GGGCAGTG others(7): Show |
8 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(5): Show | 8 | HG02280.hp1 HG02976.hp2 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.346-41_346-40insGC others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 71511765 | |||||
| chr2:71511778
|
A | G | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.346-29A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 4/55 | chr2 | 71511778 | ||||||
| chr2:71511938
|
G | C | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.460+17G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71511938 | ||||||
| chr2:71512003
|
C | T | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(1): Show | 4 | HG01255.hp2 HG02258.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.460+82C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512003 | ||||||
| chr2:71512071
|
A | G | 51 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0006t0001g0072others(48): Show | 51 | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.460+150A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512071 | ||||||
| chr2:71512143
|
G | A | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(17): Show |
intron_variant | MODIFIER | c.460+222G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512143 | ||||||
| chr2:71512164
|
G | A | 44 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0010t0001g0035others(41): Show | 44 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.460+243G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512164 | ||||||
| chr2:71512261
|
A | G | 44 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0010t0001g0035others(41): Show | 44 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.460+340A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512261 | ||||||
| chr2:71512324
|
C | T | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.460+403C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512324 | ||||||
| chr2:71512357
|
A | G | 1 | a0027c0059t0005g0117 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.460+436A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512357 | ||||||
| chr2:71512492
|
G | A | 1 | a0001c0003t0001g0065 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.460+571G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512492 | ||||||
| chr2:71512583
|
C | A | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0084t0001g0038 | 3 | HG00735.hp1 HG02257.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.461-657C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512583 | ||||||
| chr2:71512604
|
T | C | 76 | a0001c0001t0001g0002a0001c0001t0002g0179a0001c0004t0001g0025others(73): Show | 76 | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.461-636T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512604 | ||||||
| chr2:71512762
|
A | G | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.461-478A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512762 | ||||||
| chr2:71512781
|
T | C | 9 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(6): Show | 9 | HG02055.hp2 HG02615.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.461-459T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512781 | ||||||
| chr2:71512796
|
CCAGCACA others(5): Show |
C | 96 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(93): Show | 96 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(93): Show |
intron_variant | MODIFIER | c.461-442_461-431del others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | INFO_REALIGN_3_PRIME | chr2 | 71512796 | |||||
| chr2:71512824
|
C | T | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(1): Show | 4 | HG01255.hp2 HG02258.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.461-416C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512824 | ||||||
| chr2:71512955
|
C | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.461-285C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71512955 | ||||||
| chr2:71513012
|
G | A | 11 | a0002c0021t0001g0042a0002c0021t0002g0149a0002c0022t0001g0111others(8): Show | 11 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.461-228G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 5/55 | chr2 | 71513012 | ||||||
| chr2:71513414
|
C | T | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.553+82C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 6/55 | chr2 | 71513414 | ||||||
| chr2:71513972
|
C | T | 5 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(2): Show | 5 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.759+51C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71513972 | ||||||
| chr2:71514104
|
C | A | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.759+183C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514104 | ||||||
| chr2:71514127
|
G | A | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.759+206G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514127 | ||||||
| chr2:71514127
|
G | C | 46 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0010t0001g0035others(43): Show | 46 | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.759+206G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514127 | ||||||
| chr2:71514147
|
T | TA | 91 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(88): Show | 91 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(88): Show |
intron_variant | MODIFIER | c.759+247dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 71514147 | |||||
| chr2:71514147
|
T | TAA | 8 | a0001c0009t0008g0196a0001c0010t0001g0142a0001c0026t0001g0095others(5): Show | 8 | HG00735.hp1 HG01167.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.759+246_759+247dup others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 71514147 | |||||
| chr2:71514147
|
TA | T | 25 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0108others(22): Show | 25 | HG00438.hp2 HG00558.hp1 HG00738.hp2 others(22): Show |
intron_variant | MODIFIER | c.759+247delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 71514147 | |||||
| chr2:71514218
|
C | G | 21 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(18): Show | 21 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.759+297C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514218 | ||||||
| chr2:71514425
|
C | T | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG02109.hp1 HG02647.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.759+504C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514425 | ||||||
| chr2:71514502
|
T | C | 1 | a0001c0002t0002g0163 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.759+581T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514502 | ||||||
| chr2:71514511
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.759+590C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514511 | ||||||
| chr2:71514858
|
C | A | 22 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(19): Show | 22 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.760-765C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514858 | ||||||
| chr2:71514868
|
A | C | 22 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(19): Show | 22 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.760-755A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514868 | ||||||
| chr2:71514950
|
C | T | 22 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(19): Show | 22 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.760-673C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71514950 | ||||||
| chr2:71514971
|
C | CA | 7 | a0001c0001t0001g0135a0001c0001t0002g0167a0001c0005t0001g0087others(4): Show | 7 | HG01255.hp2 HG02258.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.760-641dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 71514971 | |||||
| chr2:71514971
|
C | CAA | 16 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(13): Show | 16 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.760-642_760-641dup others(2): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 71514971 | |||||
| chr2:71515017
|
G | A | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.760-606G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71515017 | ||||||
| chr2:71515162
|
T | C | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(17): Show |
intron_variant | MODIFIER | c.760-461T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71515162 | ||||||
| chr2:71515218
|
T | G | 1 | a0001c0001t0001g0078 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.760-405T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71515218 | ||||||
| chr2:71515606
|
C | T | 21 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(18): Show | 21 | HG00735.hp1 HG01071.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.760-17C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 7/55 | chr2 | 71515606 | ||||||
| chr2:71515762
|
T | C | 25 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(22): Show | 25 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(22): Show |
intron_variant | MODIFIER | c.888+11T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/55 | chr2 | 71515762 | ||||||
| chr2:71515848
|
T | C | 24 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(21): Show | 24 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.888+97T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/55 | chr2 | 71515848 | ||||||
| chr2:71516076
|
G | A | 21 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(18): Show | 21 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.889-104G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/55 | chr2 | 71516076 | ||||||
| chr2:71516112
|
G | A | 2 | a0001c0031t0001g0120a0001c0048t0002g0190 | 2 | HG01981.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.889-68G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/55 | chr2 | 71516112 | ||||||
| chr2:71516143
|
A | G | 1 | a0001c0032t0002g0193 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.889-37A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 8/55 | chr2 | 71516143 | ||||||
| chr2:71516246
|
T | C | 22 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(19): Show | 22 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(19): Show |
splice_region_variant&intron_variant | LOW | c.951+4T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516246 | ||||||
| chr2:71516281
|
T | C | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.951+39T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516281 | ||||||
| chr2:71516309
|
C | T | 3 | a0001c0007t0004g0020a0001c0007t0004g0022a0003c0065t0001g0110 | 3 | HG02615.hp2 HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.951+67C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516309 | ||||||
| chr2:71516324
|
A | G | 18 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(15): Show | 18 | HG00438.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
intron_variant | MODIFIER | c.951+82A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516324 | ||||||
| chr2:71516325
|
C | T | 18 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(15): Show | 18 | HG00438.hp1 HG01109.hp1 HG01255.hp2 others(15): Show |
intron_variant | MODIFIER | c.951+83C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516325 | ||||||
| chr2:71516341
|
C | T | 11 | a0002c0021t0001g0042a0002c0021t0002g0149a0002c0022t0001g0111others(8): Show | 11 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.951+99C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516341 | ||||||
| chr2:71516432
|
G | T | 2 | a0001c0005t0001g0143a0001c0039t0001g0061 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.951+190G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516432 | ||||||
| chr2:71516510
|
T | C | 110 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(107): Show | 110 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(107): Show |
intron_variant | MODIFIER | c.951+268T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516510 | ||||||
| chr2:71516535
|
C | T | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.951+293C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516535 | ||||||
| chr2:71516616
|
G | C | 20 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(17): Show | 20 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.952-373G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516616 | ||||||
| chr2:71516647
|
T | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.952-342T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516647 | ||||||
| chr2:71516683
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.952-306G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516683 | ||||||
| chr2:71516854
|
C | T | 19 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(16): Show | 19 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.952-135C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516854 | ||||||
| chr2:71516919
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.952-70G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 9/55 | chr2 | 71516919 | ||||||
| chr2:71517128
|
T | C | 15 | a0001c0001t0002g0179a0001c0006t0001g0072a0001c0006t0001g0121others(12): Show | 15 | HG00738.hp2 HG02074.hp1 HG02165.hp1 others(12): Show |
intron_variant | MODIFIER | c.1002+89T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517128 | ||||||
| chr2:71517255
|
C | T | 19 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(16): Show | 19 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.1002+216C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517255 | ||||||
| chr2:71517353
|
G | T | 15 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(12): Show | 15 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.1002+314G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517353 | ||||||
| chr2:71517376
|
A | T | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1002+337A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517376 | ||||||
| chr2:71517379
|
C | G | 89 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(86): Show | 89 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
intron_variant | MODIFIER | c.1002+340C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517379 | ||||||
| chr2:71517380
|
G | A | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1002+341G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517380 | ||||||
| chr2:71517501
|
T | C | 140 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1002+462T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517501 | ||||||
| chr2:71517653
|
C | T | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1002+614C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517653 | ||||||
| chr2:71517746
|
T | C | 4 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(1): Show | 4 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.1002+707T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71517746 | ||||||
| chr2:71518023
|
C | T | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1002+984C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518023 | ||||||
| chr2:71518092
|
G | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1002+1053G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518092 | ||||||
| chr2:71518135
|
C | T | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1002+1096C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518135 | ||||||
| chr2:71518157
|
T | C | 4 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(1): Show | 4 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.1002+1118T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518157 | ||||||
| chr2:71518187
|
A | G | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1002+1148A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518187 | ||||||
| chr2:71518206
|
G | C | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1002+1167G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518206 | ||||||
| chr2:71518255
|
A | AT | 8 | a0001c0002t0002g0172a0001c0003t0001g0065a0001c0010t0001g0142others(5): Show | 8 | HG01981.hp2 HG02055.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1002+1235dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71518255 | |||||
| chr2:71518255
|
AT | A | 18 | a0001c0001t0002g0179a0001c0003t0001g0043a0001c0006t0001g0072others(15): Show | 18 | HG00738.hp2 HG01167.hp1 HG02074.hp1 others(15): Show |
intron_variant | MODIFIER | c.1002+1235delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71518255 | |||||
| chr2:71518255
|
ATTT | A | 24 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(21): Show | 24 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(21): Show |
intron_variant | MODIFIER | c.1002+1233_1002+123 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71518255 | |||||
| chr2:71518262
|
T | G | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1002+1223T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518262 | ||||||
| chr2:71518389
|
T | C | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1002+1350T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518389 | ||||||
| chr2:71518413
|
C | T | 23 | a0001c0001t0002g0179a0001c0006t0001g0072a0001c0006t0001g0121others(20): Show | 23 | HG00738.hp2 HG02074.hp1 HG02165.hp1 others(20): Show |
intron_variant | MODIFIER | c.1002+1374C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518413 | ||||||
| chr2:71518422
|
G | GT | 16 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0002t0001g0003others(13): Show | 16 | HG00438.hp2 HG00738.hp1 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.1002+1398dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71518422 | |||||
| chr2:71518422
|
G | GTTTT | 20 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0032others(17): Show | 20 | HG00735.hp2 HG01074.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.1002+1395_1002+139 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71518422 | |||||
| chr2:71518469
|
C | G | 25 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(22): Show | 25 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(22): Show |
intron_variant | MODIFIER | c.1002+1430C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518469 | ||||||
| chr2:71518535
|
G | T | 17 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(14): Show | 17 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.1002+1496G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518535 | ||||||
| chr2:71518643
|
A | G | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1003-1535A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518643 | ||||||
| chr2:71518677
|
C | T | 7 | a0001c0006t0001g0121a0001c0006t0002g0151a0001c0006t0002g0176others(4): Show | 7 | HG02074.hp1 HG02165.hp1 NA18947.hp2 others(4): Show |
intron_variant | MODIFIER | c.1003-1501C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518677 | ||||||
| chr2:71518727
|
T | C | 140 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1003-1451T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518727 | ||||||
| chr2:71518741
|
G | A | 1 | a0001c0006t0001g0072 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.1003-1437G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71518741 | ||||||
| chr2:71519008
|
G | A | 1 | a0001c0013t0001g0057 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1003-1170G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519008 | ||||||
| chr2:71519076
|
G | C | 1 | a0014c0082t0002g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1003-1102G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519076 | ||||||
| chr2:71519079
|
C | T | 1 | a0001c0014t0002g0175 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1003-1099C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519079 | ||||||
| chr2:71519092
|
C | CA | 27 | a0001c0001t0001g0119a0001c0001t0001g0135a0001c0001t0002g0154others(24): Show | 27 | HG00438.hp2 HG01175.hp2 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.1003-1056dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
C | CAA | 50 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(47): Show | 50 | HG00140.hp2 HG00642.hp2 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.1003-1057_1003-105 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
C | CAAA | 24 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(21): Show | 24 | HG00642.hp1 HG00673.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.1003-1058_1003-105 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
CA | C | 5 | a0001c0001t0001g0002a0001c0017t0001g0101a0001c0073t0001g0128others(2): Show | 5 | HG03139.hp1 HG03209.hp1 NA18963.hp1 others(2): Show |
intron_variant | MODIFIER | c.1003-1056delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
CAAA | C | 12 | a0001c0010t0001g0041a0001c0010t0005g0091a0001c0025t0002g0191others(9): Show | 12 | HG00735.hp1 HG01071.hp1 HG01123.hp1 others(9): Show |
intron_variant | MODIFIER | c.1003-1058_1003-105 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
CAAAA | C | 11 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0010t0001g0142others(8): Show | 11 | HG01099.hp1 HG01255.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.1003-1059_1003-105 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
CAAAAAAA others(2): Show |
C | 15 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0032others(12): Show | 15 | HG00438.hp1 HG01891.hp1 HG01981.hp1 others(12): Show |
intron_variant | MODIFIER | c.1003-1064_1003-105 others(13): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519092
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0004t0001g0031 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1003-1065_1003-105 others(14): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519092 | |||||
| chr2:71519773
|
T | A | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1003-405T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519773 | ||||||
| chr2:71519790
|
A | G | 73 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(70): Show | 73 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(70): Show |
intron_variant | MODIFIER | c.1003-388A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519790 | ||||||
| chr2:71519811
|
G | GT | 16 | a0001c0001t0001g0119a0001c0001t0001g0203a0001c0001t0002g0160others(13): Show | 16 | HG01167.hp2 HG01175.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.1003-344dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519811 | |||||
| chr2:71519811
|
GT | G | 66 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(63): Show | 66 | HG00140.hp2 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.1003-344delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519811 | |||||
| chr2:71519811
|
GTT | G | 23 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0010t0001g0041others(20): Show | 23 | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.1003-345_1003-344d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 71519811 | |||||
| chr2:71519847
|
G | C | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1003-331G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71519847 | ||||||
| chr2:71520087
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1003-91A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71520087 | ||||||
| chr2:71520105
|
A | G | 139 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1003-73A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 10/55 | chr2 | 71520105 | ||||||
| chr2:71520250
|
CT | C | 5 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(2): Show | 5 | HG01255.hp2 HG02258.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.1033+43delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520250 | ||||||
| chr2:71520261
|
T | C | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1033+53T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520261 | ||||||
| chr2:71520270
|
C | G | 1 | a0001c0006t0001g0121 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1033+62C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520270 | ||||||
| chr2:71520302
|
G | T | 118 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(115): Show |
intron_variant | MODIFIER | c.1033+94G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520302 | ||||||
| chr2:71520377
|
C | T | 2 | a0001c0003t0001g0014a0013c0054t0002g0169 | 2 | HG01175.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.1033+169C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520377 | ||||||
| chr2:71520438
|
G | T | 118 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(115): Show |
intron_variant | MODIFIER | c.1033+230G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520438 | ||||||
| chr2:71520464
|
C | T | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1033+256C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520464 | ||||||
| chr2:71520520
|
TTCCATTC others(12): Show |
T | 1 | a0001c0013t0001g0057 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1034-267_1034-249d others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | INFO_REALIGN_3_PRIME | chr2 | 71520520 | |||||
| chr2:71520593
|
C | G | 118 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(115): Show |
intron_variant | MODIFIER | c.1034-196C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520593 | ||||||
| chr2:71520710
|
T | G | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1034-79T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520710 | ||||||
| chr2:71520721
|
T | C | 139 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1034-68T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520721 | ||||||
| chr2:71520725
|
C | T | 21 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(18): Show | 21 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1034-64C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520725 | ||||||
| chr2:71520760
|
G | T | 1 | a0010c0046t0001g0066 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1034-29G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520760 | ||||||
| chr2:71520762
|
A | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1034-27A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520762 | ||||||
| chr2:71520769
|
G | A | 70 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(67): Show | 70 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(67): Show |
intron_variant | MODIFIER | c.1034-20G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 11/55 | chr2 | 71520769 | ||||||
| chr2:71520958
|
C | T | 18 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0031t0001g0120others(15): Show | 18 | HG00438.hp1 HG01255.hp2 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.1149+54C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71520958 | ||||||
| chr2:71520959
|
G | A | 3 | a0001c0007t0004g0020a0001c0007t0004g0022a0003c0065t0001g0110 | 3 | HG02615.hp2 HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1149+55G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71520959 | ||||||
| chr2:71521205
|
C | T | 3 | a0001c0077t0001g0050a0001c0089t0001g0024a0011c0087t0001g0090 | 3 | HG01884.hp2 HG02109.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1149+301C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521205 | ||||||
| chr2:71521209
|
A | G | 2 | a0001c0016t0001g0026a0001c0016t0001g0027 | 2 | HG03098.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1149+305A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521209 | ||||||
| chr2:71521581
|
T | G | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1149+677T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521581 | ||||||
| chr2:71521725
|
C | T | 2 | a0003c0043t0001g0116a0003c0044t0001g0023 | 2 | HG02055.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1149+821C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521725 | ||||||
| chr2:71521757
|
C | T | 2 | a0001c0013t0002g0186a0007c0027t0007g0159 | 2 | HG02523.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.1149+853C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521757 | ||||||
| chr2:71521800
|
C | T | 5 | a0001c0010t0001g0142a0001c0026t0001g0095a0001c0026t0001g0097others(2): Show | 5 | HG00735.hp1 HG02055.hp1 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.1149+896C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521800 | ||||||
| chr2:71521867
|
C | G | 30 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(27): Show | 30 | HG00738.hp2 HG02074.hp1 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.1149+963C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71521867 | ||||||
| chr2:71522019
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1149+1115C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522019 | ||||||
| chr2:71522027
|
T | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1149+1123T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522027 | ||||||
| chr2:71522076
|
T | C | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1149+1172T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522076 | ||||||
| chr2:71522273
|
C | G | 113 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(110): Show | 113 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1149+1369C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522273 | ||||||
| chr2:71522289
|
G | A | 139 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1149+1385G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522289 | ||||||
| chr2:71522394
|
CTGT | C | 6 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(3): Show | 6 | HG01255.hp2 HG02258.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.1149+1495_1149+149 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 71522394 | |||||
| chr2:71522404
|
A | T | 139 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1149+1500A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522404 | ||||||
| chr2:71522424
|
C | CA | 2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1520_1149+152 others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522424 | ||||||
| chr2:71522424
|
C | T | 117 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1149+1520C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522424 | ||||||
| chr2:71522426
|
T | C | 2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1522T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522426 | ||||||
| chr2:71522427
|
T | A | 2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1523T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522427 | ||||||
| chr2:71522429
|
G | C | 2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1525G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522429 | ||||||
| chr2:71522431
|
T | TACAGACA others(25): Show |
2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1527_1149+152 others(36): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522431 | ||||||
| chr2:71522432
|
T | G | 2 | a0001c0002t0002g0164a0001c0002t0002g0165 | 2 | NA18947.hp1 NA18952.hp2 |
intron_variant | MODIFIER | c.1149+1528T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522432 | ||||||
| chr2:71522455
|
A | C | 72 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(69): Show | 72 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(69): Show |
intron_variant | MODIFIER | c.1149+1551A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522455 | ||||||
| chr2:71522471
|
A | T | 117 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1149+1567A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522471 | ||||||
| chr2:71522525
|
G | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1149+1621G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522525 | ||||||
| chr2:71522731
|
T | A | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1149+1827T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522731 | ||||||
| chr2:71522785
|
G | A | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1149+1881G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522785 | ||||||
| chr2:71522847
|
G | A | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1149+1943G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522847 | ||||||
| chr2:71522864
|
C | T | 3 | a0001c0001t0001g0108a0001c0001t0002g0184a0001c0002t0002g0163 | 3 | NA18971.hp1 NA19074.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.1149+1960C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522864 | ||||||
| chr2:71522946
|
A | C | 117 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1149+2042A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522946 | ||||||
| chr2:71522947
|
G | C | 117 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1149+2043G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71522947 | ||||||
| chr2:71523032
|
C | T | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1149+2128C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523032 | ||||||
| chr2:71523039
|
A | C | 1 | a0001c0003t0001g0013 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1149+2135A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523039 | ||||||
| chr2:71523078
|
T | C | 11 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0024t0001g0054others(8): Show | 11 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.1149+2174T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523078 | ||||||
| chr2:71523265
|
T | G | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1149+2361T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523265 | ||||||
| chr2:71523354
|
C | T | 3 | a0001c0031t0001g0120a0001c0048t0002g0190a0024c0045t0001g0093 | 3 | HG01981.hp1 HG03195.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1149+2450C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523354 | ||||||
| chr2:71523377
|
C | T | 5 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0032t0002g0193others(2): Show | 5 | HG01255.hp2 HG02258.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.1149+2473C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523377 | ||||||
| chr2:71523418
|
G | A | 139 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1149+2514G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523418 | ||||||
| chr2:71523472
|
C | T | 117 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1149+2568C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523472 | ||||||
| chr2:71523525
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1149+2621C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523525 | ||||||
| chr2:71523543
|
CT | C | 105 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(102): Show | 105 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(102): Show |
intron_variant | MODIFIER | c.1150-2656delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 71523543 | |||||
| chr2:71523543
|
CTT | C | 17 | a0001c0003t0001g0127a0001c0005t0001g0087a0001c0007t0004g0020others(14): Show | 17 | HG01074.hp1 HG01109.hp1 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1150-2657_1150-265 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 71523543 | |||||
| chr2:71523637
|
C | T | 1 | a0001c0001t0003g0059 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1150-2583C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523637 | ||||||
| chr2:71523692
|
G | C | 67 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(64): Show | 67 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(64): Show |
intron_variant | MODIFIER | c.1150-2528G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523692 | ||||||
| chr2:71523694
|
G | T | 67 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(64): Show | 67 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(64): Show |
intron_variant | MODIFIER | c.1150-2526G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523694 | ||||||
| chr2:71523890
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1150-2330C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71523890 | ||||||
| chr2:71524319
|
A | G | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1150-1901A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524319 | ||||||
| chr2:71524367
|
T | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1150-1853T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524367 | ||||||
| chr2:71524399
|
A | G | 2 | a0001c0005t0001g0074a0001c0005t0002g0177 | 2 | HG04204.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1150-1821A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524399 | ||||||
| chr2:71524461
|
T | C | 1 | a0027c0059t0005g0117 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1150-1759T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524461 | ||||||
| chr2:71524486
|
C | T | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1150-1734C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524486 | ||||||
| chr2:71524627
|
A | G | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1150-1593A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524627 | ||||||
| chr2:71524670
|
C | G | 118 | a0001c0001t0001g0037a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(115): Show |
intron_variant | MODIFIER | c.1150-1550C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524670 | ||||||
| chr2:71524750
|
T | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1150-1470T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71524750 | ||||||
| chr2:71525130
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1150-1090C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525130 | ||||||
| chr2:71525131
|
T | A | 69 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(66): Show | 69 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(66): Show |
intron_variant | MODIFIER | c.1150-1089T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525131 | ||||||
| chr2:71525250
|
G | A | 1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1150-970G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525250 | ||||||
| chr2:71525338
|
T | C | 51 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(48): Show | 51 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.1150-882T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525338 | ||||||
| chr2:71525522
|
G | C | 138 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(135): Show | 138 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(135): Show |
intron_variant | MODIFIER | c.1150-698G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525522 | ||||||
| chr2:71525711
|
TAGTC | T | 63 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(60): Show | 63 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(60): Show |
intron_variant | MODIFIER | c.1150-506_1150-503d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 71525711 | |||||
| chr2:71525864
|
C | T | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1150-356C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525864 | ||||||
| chr2:71525869
|
T | A | 11 | a0002c0021t0001g0042a0002c0021t0002g0149a0002c0022t0001g0111others(8): Show | 11 | HG00438.hp1 HG01891.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.1150-351T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525869 | ||||||
| chr2:71525929
|
G | A | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1150-291G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71525929 | ||||||
| chr2:71526081
|
G | A | 4 | a0001c0060t0001g0197a0001c0078t0001g0199a0020c0062t0001g0045others(1): Show | 4 | HG02280.hp2 HG02630.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1150-139G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 12/55 | chr2 | 71526081 | ||||||
| chr2:71526357
|
C | T | 23 | a0001c0005t0001g0092a0001c0010t0001g0035a0001c0010t0001g0041others(20): Show | 23 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.1276+11C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526357 | ||||||
| chr2:71526360
|
G | A | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1276+14G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526360 | ||||||
| chr2:71526385
|
G | T | 1 | a0001c0002t0001g0069 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1276+39G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526385 | ||||||
| chr2:71526471
|
A | C | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1276+125A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526471 | ||||||
| chr2:71526472
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1276+126G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526472 | ||||||
| chr2:71526516
|
C | A | 1 | a0001c0005t0001g0143 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1276+170C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526516 | ||||||
| chr2:71526518
|
A | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1276+172A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526518 | ||||||
| chr2:71526649
|
A | G | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+303A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526649 | ||||||
| chr2:71526703
|
C | T | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1276+357C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526703 | ||||||
| chr2:71526806
|
C | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1276+460C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71526806 | ||||||
| chr2:71527079
|
G | C | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1276+733G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527079 | ||||||
| chr2:71527106
|
G | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1276+760G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527106 | ||||||
| chr2:71527129
|
T | A | 32 | a0001c0001t0001g0002a0001c0005t0001g0087a0001c0006t0001g0072others(29): Show | 32 | HG01255.hp2 HG02074.hp1 HG02165.hp1 others(29): Show |
intron_variant | MODIFIER | c.1276+783T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527129 | ||||||
| chr2:71527217
|
G | A | 1 | a0001c0002t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1276+871G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527217 | ||||||
| chr2:71527230
|
A | G | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1276+884A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527230 | ||||||
| chr2:71527300
|
G | A | 51 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(48): Show | 51 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+954G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527300 | ||||||
| chr2:71527352
|
C | T | 1 | a0001c0056t0002g0162 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1277-946C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527352 | ||||||
| chr2:71527362
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-936C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527362 | ||||||
| chr2:71527384
|
G | A | 2 | a0001c0003t0001g0043a0001c0009t0008g0196 | 2 | HG01167.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1277-914G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527384 | ||||||
| chr2:71527567
|
G | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1277-731G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527567 | ||||||
| chr2:71527591
|
G | GA | 139 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1277-700dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | INFO_REALIGN_3_PRIME | chr2 | 71527591 | |||||
| chr2:71527599
|
C | A | 2 | a0001c0005t0001g0143a0001c0039t0001g0061 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.1277-699C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527599 | ||||||
| chr2:71527820
|
A | C | 23 | a0001c0005t0001g0092a0001c0010t0001g0035a0001c0010t0001g0041others(20): Show | 23 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.1277-478A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527820 | ||||||
| chr2:71527863
|
A | C | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1277-435A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71527863 | ||||||
| chr2:71528095
|
T | G | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277-203T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71528095 | ||||||
| chr2:71528186
|
C | G | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1277-112C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71528186 | ||||||
| chr2:71528218
|
C | T | 2 | a0001c0003t0001g0043a0001c0009t0008g0196 | 2 | HG01167.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1277-80C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71528218 | ||||||
| chr2:71528219
|
C | T | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1277-79C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71528219 | ||||||
| chr2:71528250
|
A | G | 141 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(138): Show | 141 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(138): Show |
intron_variant | MODIFIER | c.1277-48A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 13/55 | chr2 | 71528250 | ||||||
| chr2:71528407
|
G | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | splice_region_variant&intron_variant | LOW | c.1380+6G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528407 | ||||||
| chr2:71528468
|
G | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1380+67G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528468 | ||||||
| chr2:71528537
|
C | T | 14 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(11): Show | 14 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.1380+136C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528537 | ||||||
| chr2:71528625
|
C | T | 2 | a0003c0043t0001g0116a0003c0044t0001g0023 | 2 | HG02055.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1380+224C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528625 | ||||||
| chr2:71528934
|
C | T | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1380+533C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528934 | ||||||
| chr2:71528959
|
C | A | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1380+558C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71528959 | ||||||
| chr2:71529032
|
C | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1380+631C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529032 | ||||||
| chr2:71529080
|
C | T | 2 | a0001c0032t0002g0193a0027c0059t0005g0117 | 2 | HG02258.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1380+679C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529080 | ||||||
| chr2:71529208
|
C | T | 1 | a0001c0056t0002g0162 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1380+807C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529208 | ||||||
| chr2:71529261
|
A | T | 1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1380+860A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529261 | ||||||
| chr2:71529317
|
C | T | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1380+916C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529317 | ||||||
| chr2:71529364
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1380+963C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529364 | ||||||
| chr2:71529385
|
G | A | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1380+984G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529385 | ||||||
| chr2:71529515
|
A | C | 117 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(114): Show | 117 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(114): Show |
intron_variant | MODIFIER | c.1380+1114A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529515 | ||||||
| chr2:71529520
|
T | C | 3 | a0001c0007t0004g0020a0001c0007t0004g0022a0003c0065t0001g0110 | 3 | HG02615.hp2 HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1380+1119T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529520 | ||||||
| chr2:71529569
|
G | A | 3 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0032 | 3 | HG02257.hp1 HG02922.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.1380+1168G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529569 | ||||||
| chr2:71529695
|
C | T | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1380+1294C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529695 | ||||||
| chr2:71529811
|
T | C | 34 | a0001c0001t0001g0002a0001c0004t0003g0112a0001c0004t0003g0113others(31): Show | 34 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(31): Show |
intron_variant | MODIFIER | c.1380+1410T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71529811 | ||||||
| chr2:71530040
|
A | ATGCAGAT others(35): Show |
4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1380+1647_1380+168 others(46): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71530040 | |||||
| chr2:71530138
|
G | A | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1380+1737G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530138 | ||||||
| chr2:71530174
|
G | A | 1 | a0001c0001t0001g0129 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1380+1773G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530174 | ||||||
| chr2:71530302
|
G | A | 33 | a0001c0001t0001g0002a0001c0004t0003g0112a0001c0004t0003g0113others(30): Show | 33 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.1380+1901G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530302 | ||||||
| chr2:71530313
|
A | G | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1380+1912A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530313 | ||||||
| chr2:71530348
|
C | T | 53 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(50): Show | 53 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(50): Show |
intron_variant | MODIFIER | c.1380+1947C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530348 | ||||||
| chr2:71530387
|
T | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1380+1986T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530387 | ||||||
| chr2:71530475
|
G | A | 6 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(3): Show | 6 | HG02055.hp2 HG02280.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1380+2074G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530475 | ||||||
| chr2:71530541
|
A | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1380+2140A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530541 | ||||||
| chr2:71530650
|
A | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1380+2249A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530650 | ||||||
| chr2:71530701
|
A | G | 34 | a0001c0001t0001g0002a0001c0004t0003g0112a0001c0004t0003g0113others(31): Show | 34 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(31): Show |
intron_variant | MODIFIER | c.1380+2300A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530701 | ||||||
| chr2:71530730
|
A | G | 37 | a0001c0001t0001g0002a0001c0004t0003g0112a0001c0004t0003g0113others(34): Show | 37 | HG00438.hp1 HG01099.hp1 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.1380+2329A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530730 | ||||||
| chr2:71530754
|
G | T | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1380+2353G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530754 | ||||||
| chr2:71530774
|
G | A | 3 | a0001c0012t0001g0147a0001c0012t0001g0208a0003c0088t0006g0192 | 3 | HG01099.hp1 HG02976.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1380+2373G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530774 | ||||||
| chr2:71530792
|
C | G | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1380+2391C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530792 | ||||||
| chr2:71530794
|
C | G | 34 | a0001c0001t0001g0002a0001c0004t0003g0112a0001c0004t0003g0113others(31): Show | 34 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(31): Show |
intron_variant | MODIFIER | c.1380+2393C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530794 | ||||||
| chr2:71530919
|
C | T | 1 | a0001c0003t0001g0006 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1380+2518C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530919 | ||||||
| chr2:71530995
|
T | G | 1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1380+2594T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71530995 | ||||||
| chr2:71531068
|
A | T | 141 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(138): Show | 141 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(138): Show |
intron_variant | MODIFIER | c.1380+2667A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531068 | ||||||
| chr2:71531079
|
C | A | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1380+2678C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531079 | ||||||
| chr2:71531199
|
G | C | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1380+2798G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531199 | ||||||
| chr2:71531244
|
C | G | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1380+2843C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531244 | ||||||
| chr2:71531244
|
C | T | 65 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(62): Show | 65 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(62): Show |
intron_variant | MODIFIER | c.1380+2843C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531244 | ||||||
| chr2:71531248
|
C | A | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1380+2847C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531248 | ||||||
| chr2:71531248
|
C | G | 19 | a0001c0010t0001g0041a0001c0010t0001g0142a0001c0010t0005g0091others(16): Show | 19 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.1380+2847C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531248 | ||||||
| chr2:71531340
|
T | C | 1 | a0001c0006t0001g0121 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1380+2939T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531340 | ||||||
| chr2:71531426
|
G | A | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1380+3025G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531426 | ||||||
| chr2:71531450
|
G | T | 28 | a0001c0006t0001g0072a0001c0006t0001g0121a0001c0006t0002g0151others(25): Show | 28 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.1380+3049G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531450 | ||||||
| chr2:71531704
|
A | G | 86 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(83): Show | 86 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(83): Show |
intron_variant | MODIFIER | c.1380+3303A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71531704 | ||||||
| chr2:71532013
|
C | A | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1381-3008C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532013 | ||||||
| chr2:71532220
|
A | C | 1 | a0005c0034t0002g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1381-2801A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532220 | ||||||
| chr2:71532547
|
G | A | 28 | a0001c0001t0001g0002a0001c0006t0001g0072a0001c0006t0001g0121others(25): Show | 28 | HG00438.hp1 HG01891.hp1 HG02074.hp1 others(25): Show |
intron_variant | MODIFIER | c.1381-2474G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532547 | ||||||
| chr2:71532572
|
C | T | 17 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(14): Show | 17 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(14): Show |
intron_variant | MODIFIER | c.1381-2449C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532572 | ||||||
| chr2:71532659
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1381-2362G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532659 | ||||||
| chr2:71532732
|
TG | T | 8 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(5): Show | 8 | HG01167.hp2 HG02809.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1381-2285delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532732 | |||||
| chr2:71532751
|
A | G | 140 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1381-2270A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532751 | ||||||
| chr2:71532830
|
T | TTCTA | 65 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0056others(62): Show | 65 | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(62): Show |
intron_variant | MODIFIER | c.1381-2144_1381-214 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
T | TTCTATCT others(1): Show |
20 | a0001c0001t0001g0078a0001c0001t0001g0105a0001c0002t0001g0017others(17): Show | 20 | HG00642.hp2 HG00673.hp1 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.1381-2148_1381-214 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
T | TTCTATCT others(5): Show |
1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1381-2152_1381-214 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
T | TTCTATCT others(9): Show |
2 | a0001c0074t0001g0094a0016c0036t0001g0115 | 2 | HG03017.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1381-2176_1381-217 others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
TTCTA | T | 27 | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0001g0137others(24): Show | 27 | HG00438.hp1 HG00735.hp2 HG01123.hp1 others(24): Show |
intron_variant | MODIFIER | c.1381-2144_1381-214 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
TTCTATCT others(1): Show |
T | 5 | a0001c0001t0001g0002a0001c0005t0001g0143a0001c0039t0001g0061others(2): Show | 5 | HG03017.hp2 HG03195.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.1381-2148_1381-214 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532830
|
TTCTATCT others(5): Show |
T | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1381-2152_1381-214 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532830 | |||||
| chr2:71532834
|
A | ATCTATCT others(5): Show |
1 | a0001c0009t0001g0089 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1381-2176_1381-217 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71532834 | |||||
| chr2:71532889
|
T | G | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1381-2132T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532889 | ||||||
| chr2:71532893
|
C | T | 1 | a0004c0011t0001g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1381-2128C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532893 | ||||||
| chr2:71532972
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1381-2049A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71532972 | ||||||
| chr2:71533101
|
C | T | 15 | a0001c0001t0001g0002a0001c0006t0001g0072a0001c0006t0001g0121others(12): Show | 15 | HG02074.hp1 HG02165.hp1 HG02647.hp1 others(12): Show |
intron_variant | MODIFIER | c.1381-1920C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533101 | ||||||
| chr2:71533144
|
T | C | 119 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(116): Show | 119 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(116): Show |
intron_variant | MODIFIER | c.1381-1877T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533144 | ||||||
| chr2:71533423
|
C | T | 4 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(1): Show | 4 | HG02717.hp1 HG03453.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1381-1598C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533423 | ||||||
| chr2:71533424
|
G | A | 17 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(14): Show | 17 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(14): Show |
intron_variant | MODIFIER | c.1381-1597G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533424 | ||||||
| chr2:71533558
|
A | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1381-1463A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533558 | ||||||
| chr2:71533593
|
C | T | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1381-1428C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533593 | ||||||
| chr2:71533952
|
C | T | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1381-1069C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71533952 | ||||||
| chr2:71534005
|
AAATCCTG others(6): Show |
A | 12 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(9): Show | 12 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1381-1014_1381-100 others(17): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71534005 | |||||
| chr2:71534021
|
CCCCACA | C | 12 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(9): Show | 12 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1381-995_1381-990d others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 71534021 | |||||
| chr2:71534067
|
G | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1381-954G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534067 | ||||||
| chr2:71534373
|
C | T | 2 | a0001c0031t0001g0120a0001c0048t0002g0190 | 2 | HG01981.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1381-648C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534373 | ||||||
| chr2:71534470
|
A | C | 12 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(9): Show | 12 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1381-551A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534470 | ||||||
| chr2:71534586
|
G | A | 1 | a0001c0010t0005g0091 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1381-435G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534586 | ||||||
| chr2:71534624
|
T | C | 95 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(92): Show | 95 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(92): Show |
intron_variant | MODIFIER | c.1381-397T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534624 | ||||||
| chr2:71534636
|
C | G | 1 | a0001c0001t0001g0105 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1381-385C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | chr2 | 71534636 | ||||||
| chr2:71535096
|
C | T | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | splice_region_variant&intron_variant | LOW | c.1449+7C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535096 | ||||||
| chr2:71535102
|
C | T | 93 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(90): Show | 93 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(90): Show |
intron_variant | MODIFIER | c.1449+13C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535102 | ||||||
| chr2:71535142
|
C | T | 4 | a0001c0010t0001g0035a0001c0010t0005g0091a0001c0085t0001g0029others(1): Show | 4 | HG01891.hp2 HG02818.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1449+53C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535142 | ||||||
| chr2:71535158
|
C | G | 3 | a0001c0001t0002g0167a0001c0017t0001g0101a0001c0017t0001g0133 | 3 | NA18946.hp1 NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.1449+69C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535158 | ||||||
| chr2:71535165
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1449+76C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535165 | ||||||
| chr2:71535180
|
A | G | 118 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(115): Show |
intron_variant | MODIFIER | c.1450-88A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535180 | ||||||
| chr2:71535253
|
C | T | 1 | a0001c0006t0003g0204 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1450-15C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 15/55 | chr2 | 71535253 | ||||||
| chr2:71535359
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1493+48C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535359 | ||||||
| chr2:71535480
|
G | A | 1 | a0013c0054t0002g0169 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1493+169G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535480 | ||||||
| chr2:71535640
|
G | A | 1 | a0004c0011t0001g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1493+329G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535640 | ||||||
| chr2:71535669
|
T | G | 118 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(115): Show | 118 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(115): Show |
intron_variant | MODIFIER | c.1493+358T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535669 | ||||||
| chr2:71535794
|
C | T | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1493+483C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535794 | ||||||
| chr2:71535827
|
G | A | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1493+516G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535827 | ||||||
| chr2:71535893
|
C | T | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1493+582C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535893 | ||||||
| chr2:71535963
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1493+652G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71535963 | ||||||
| chr2:71536065
|
A | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1493+754A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536065 | ||||||
| chr2:71536158
|
T | C | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1493+847T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536158 | ||||||
| chr2:71536228
|
C | T | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1493+917C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536228 | ||||||
| chr2:71536317
|
A | C | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1493+1006A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536317 | ||||||
| chr2:71536423
|
C | T | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1493+1112C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536423 | ||||||
| chr2:71536464
|
G | A | 13 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(10): Show | 13 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.1493+1153G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536464 | ||||||
| chr2:71536689
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1493+1378C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71536689 | ||||||
| chr2:71537217
|
A | AGTTTT | 38 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(35): Show | 38 | HG00140.hp2 HG00642.hp2 HG00738.hp1 others(35): Show |
intron_variant | MODIFIER | c.1493+1912_1493+191 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537217 | |||||
| chr2:71537218
|
G | GTT | 8 | a0001c0010t0001g0041a0001c0025t0001g0012a0001c0077t0001g0050others(5): Show | 8 | HG00735.hp2 HG01099.hp1 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.1493+1910_1493+191 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537218 | |||||
| chr2:71537218
|
G | GTTT | 8 | a0001c0010t0001g0035a0001c0010t0005g0091a0001c0025t0002g0191others(5): Show | 8 | HG00738.hp2 HG01123.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1493+1909_1493+191 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537218 | |||||
| chr2:71537218
|
GTTTTGTT others(3): Show |
G | 4 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(1): Show | 4 | HG02717.hp1 HG03453.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1493+1912_1493+192 others(14): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537218 | |||||
| chr2:71537219
|
TTTTG | T | 5 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0022t0001g0201others(2): Show | 5 | HG00438.hp1 HG02523.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1493+1912_1493+191 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537219 | |||||
| chr2:71537220
|
TTTG | T | 5 | a0002c0022t0001g0111a0002c0023t0001g0036a0002c0023t0001g0123others(2): Show | 5 | HG02965.hp2 HG03486.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.1493+1912_1493+191 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537220 | |||||
| chr2:71537223
|
G | GT | 19 | a0001c0001t0001g0108a0001c0001t0001g0135a0001c0001t0001g0137others(16): Show | 19 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(16): Show |
intron_variant | MODIFIER | c.1494-1911dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | GTT | 5 | a0001c0002t0001g0017a0001c0002t0001g0040a0001c0002t0001g0048others(2): Show | 5 | HG01433.hp2 HG01934.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.1494-1912_1494-191 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | GTTT | 6 | a0001c0007t0004g0020a0001c0009t0001g0089a0001c0032t0002g0193others(3): Show | 6 | HG01255.hp2 HG02258.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1494-1913_1494-191 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | GTTTT | 5 | a0001c0005t0001g0087a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02280.hp2 HG02630.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1494-1914_1494-191 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | GTTTTGT | 24 | a0001c0003t0001g0007a0001c0003t0001g0013a0001c0003t0001g0047others(21): Show | 24 | HG01167.hp1 HG01261.hp2 HG01978.hp1 others(21): Show |
intron_variant | MODIFIER | c.1493+1916_1493+191 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | GTTTTGTT | 6 | a0001c0003t0001g0014a0001c0003t0001g0043a0001c0004t0001g0030others(3): Show | 6 | HG00642.hp1 HG01175.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.1493+1916_1493+191 others(11): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537223
|
G | T | 27 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(24): Show | 27 | HG00673.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1493+1912G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537223 | ||||||
| chr2:71537223
|
GTTTTT | G | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1494-1915_1494-191 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | 71537223 | |||||
| chr2:71537228
|
T | G | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1493+1917T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537228 | ||||||
| chr2:71537229
|
T | G | 7 | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0119others(4): Show | 7 | HG01167.hp2 HG02809.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1493+1918T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537229 | ||||||
| chr2:71537233
|
T | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1493+1922T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537233 | ||||||
| chr2:71537277
|
G | T | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1494-1880G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537277 | ||||||
| chr2:71537303
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1494-1854A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537303 | ||||||
| chr2:71537348
|
C | T | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1494-1809C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537348 | ||||||
| chr2:71537454
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1494-1703C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537454 | ||||||
| chr2:71537457
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1494-1700G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537457 | ||||||
| chr2:71537517
|
A | T | 1 | a0001c0006t0003g0204 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1494-1640A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537517 | ||||||
| chr2:71537626
|
T | C | 114 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(111): Show | 114 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(111): Show |
intron_variant | MODIFIER | c.1494-1531T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537626 | ||||||
| chr2:71537630
|
G | A | 19 | a0001c0013t0002g0186a0001c0016t0001g0026a0001c0016t0001g0027others(16): Show | 19 | HG00438.hp1 HG01099.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.1494-1527G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537630 | ||||||
| chr2:71537680
|
C | G | 2 | a0001c0003t0001g0043a0001c0009t0008g0196 | 2 | HG01167.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1494-1477C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537680 | ||||||
| chr2:71537755
|
T | C | 113 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(110): Show | 113 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(110): Show |
intron_variant | MODIFIER | c.1494-1402T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537755 | ||||||
| chr2:71537855
|
G | A | 2 | a0001c0003t0001g0043a0001c0009t0008g0196 | 2 | HG01167.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1494-1302G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537855 | ||||||
| chr2:71537935
|
T | C | 113 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(110): Show | 113 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(110): Show |
intron_variant | MODIFIER | c.1494-1222T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71537935 | ||||||
| chr2:71538005
|
G | C | 113 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(110): Show | 113 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(110): Show |
intron_variant | MODIFIER | c.1494-1152G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538005 | ||||||
| chr2:71538095
|
C | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1494-1062C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538095 | ||||||
| chr2:71538151
|
G | C | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1494-1006G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538151 | ||||||
| chr2:71538194
|
T | A | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1494-963T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538194 | ||||||
| chr2:71538232
|
C | T | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1494-925C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538232 | ||||||
| chr2:71538272
|
A | T | 3 | a0001c0005t0001g0087a0001c0009t0001g0089a0016c0036t0001g0115 | 3 | HG01255.hp2 HG03017.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.1494-885A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538272 | ||||||
| chr2:71538416
|
C | A | 1 | a0001c0086t0001g0198 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1494-741C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538416 | ||||||
| chr2:71538421
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1494-736A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538421 | ||||||
| chr2:71538589
|
C | T | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1494-568C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538589 | ||||||
| chr2:71538620
|
G | A | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1494-537G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538620 | ||||||
| chr2:71538655
|
A | G | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1494-502A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538655 | ||||||
| chr2:71538709
|
G | A | 12 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(9): Show | 12 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1494-448G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538709 | ||||||
| chr2:71538984
|
C | G | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1494-173C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538984 | ||||||
| chr2:71538994
|
G | T | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1494-163G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71538994 | ||||||
| chr2:71539042
|
C | G | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1494-115C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71539042 | ||||||
| chr2:71539077
|
C | T | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1494-80C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | chr2 | 71539077 | ||||||
| chr2:71539357
|
G | A | 93 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(90): Show | 93 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(90): Show |
intron_variant | MODIFIER | c.1576+118G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539357 | ||||||
| chr2:71539369
|
C | G | 19 | a0001c0013t0002g0186a0001c0016t0001g0026a0001c0016t0001g0027others(16): Show | 19 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(16): Show |
intron_variant | MODIFIER | c.1576+130C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539369 | ||||||
| chr2:71539492
|
T | A | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1576+253T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539492 | ||||||
| chr2:71539685
|
C | T | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1576+446C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539685 | ||||||
| chr2:71539766
|
G | A | 1 | a0001c0001t0002g0179 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1576+527G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539766 | ||||||
| chr2:71539781
|
A | G | 4 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(1): Show | 4 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.1576+542A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539781 | ||||||
| chr2:71539801
|
A | C | 3 | a0001c0005t0001g0074a0001c0005t0002g0177a0001c0014t0002g0175 | 3 | HG00642.hp1 HG04204.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1576+562A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539801 | ||||||
| chr2:71539928
|
G | T | 8 | a0002c0021t0002g0149a0002c0022t0001g0111a0002c0022t0001g0201others(5): Show | 8 | HG01891.hp1 HG02965.hp2 HG03139.hp2 others(5): Show |
intron_variant | MODIFIER | c.1576+689G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71539928 | ||||||
| chr2:71540087
|
G | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1576+848G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540087 | ||||||
| chr2:71540113
|
TC | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0022others(4): Show | 7 | HG02717.hp1 HG03041.hp2 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.1576+875delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540113 | ||||||
| chr2:71540114
|
C | T | 7 | a0001c0007t0004g0020a0001c0032t0002g0193a0001c0060t0001g0197others(4): Show | 7 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.1576+875C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540114 | ||||||
| chr2:71540114
|
CT | C | 20 | a0001c0001t0001g0203a0001c0013t0002g0186a0001c0016t0001g0026others(17): Show | 20 | HG00438.hp1 HG01099.hp1 HG01167.hp2 others(17): Show |
intron_variant | MODIFIER | c.1576+890delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71540114 | |||||
| chr2:71540145
|
C | A | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1576+906C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540145 | ||||||
| chr2:71540192
|
T | C | 140 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1576+953T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540192 | ||||||
| chr2:71540257
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1576+1018C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540257 | ||||||
| chr2:71540259
|
C | T | 2 | a0001c0031t0001g0120a0001c0048t0002g0190 | 2 | HG01981.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1576+1020C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540259 | ||||||
| chr2:71540271
|
C | T | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1576+1032C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540271 | ||||||
| chr2:71540352
|
G | A | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1576+1113G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540352 | ||||||
| chr2:71540398
|
T | C | 116 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(113): Show | 116 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(113): Show |
intron_variant | MODIFIER | c.1576+1159T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540398 | ||||||
| chr2:71540541
|
A | T | 1 | a0001c0001t0002g0168 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1576+1302A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540541 | ||||||
| chr2:71540633
|
C | T | 80 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(77): Show | 80 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(77): Show |
intron_variant | MODIFIER | c.1576+1394C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540633 | ||||||
| chr2:71540634
|
G | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1576+1395G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540634 | ||||||
| chr2:71540672
|
TTA | T | 2 | a0001c0001t0001g0130a0001c0002t0002g0181 | 2 | NA18948.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.1576+1440_1576+144 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71540672 | |||||
| chr2:71540682
|
C | A | 2 | a0001c0001t0001g0130a0001c0002t0002g0181 | 2 | NA18948.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.1576+1443C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540682 | ||||||
| chr2:71540786
|
G | GTA | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+1555_1576+155 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71540786 | |||||
| chr2:71540837
|
CTTG | C | 4 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(1): Show | 4 | HG02257.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+1602_1576+160 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71540837 | |||||
| chr2:71540893
|
T | G | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1576+1654T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71540893 | ||||||
| chr2:71541200
|
C | T | 117 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(114): Show | 117 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(114): Show |
intron_variant | MODIFIER | c.1576+1961C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541200 | ||||||
| chr2:71541224
|
T | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1576+1985T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541224 | ||||||
| chr2:71541240
|
T | C | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1576+2001T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541240 | ||||||
| chr2:71541339
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+2100C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541339 | ||||||
| chr2:71541340
|
A | G | 140 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1576+2101A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541340 | ||||||
| chr2:71541362
|
A | G | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+2123A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541362 | ||||||
| chr2:71541395
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1576+2156C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541395 | ||||||
| chr2:71541401
|
G | A | 2 | a0001c0016t0001g0026a0001c0016t0001g0027 | 2 | HG03098.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1576+2162G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541401 | ||||||
| chr2:71541448
|
T | G | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208 | 3 | HG02976.hp2 HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1576+2209T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541448 | ||||||
| chr2:71541509
|
G | GT | 115 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(112): Show | 115 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(112): Show |
intron_variant | MODIFIER | c.1576+2279dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71541509 | |||||
| chr2:71541671
|
G | A | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1576+2432G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541671 | ||||||
| chr2:71541687
|
C | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+2448C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541687 | ||||||
| chr2:71541880
|
C | G | 5 | a0001c0004t0001g0080a0001c0015t0001g0034a0001c0015t0001g0207others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1576+2641C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71541880 | ||||||
| chr2:71542073
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1576+2834C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542073 | ||||||
| chr2:71542174
|
T | C | 1 | a0001c0001t0001g0078 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1576+2935T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542174 | ||||||
| chr2:71542189
|
G | A | 12 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(9): Show | 12 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(9): Show |
intron_variant | MODIFIER | c.1576+2950G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542189 | ||||||
| chr2:71542194
|
T | C | 8 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0024t0001g0054others(5): Show | 8 | HG00735.hp2 HG01074.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.1576+2955T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542194 | ||||||
| chr2:71542377
|
CT | C | 8 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0025t0001g0012others(5): Show | 8 | HG00735.hp2 HG01099.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1576+3153delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71542377 | |||||
| chr2:71542377
|
CTT | C | 109 | a0001c0001t0001g0002a0001c0001t0001g0124a0001c0001t0001g0125others(106): Show | 109 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(106): Show |
intron_variant | MODIFIER | c.1576+3152_1576+315 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71542377 | |||||
| chr2:71542393
|
A | G | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+3154A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542393 | ||||||
| chr2:71542487
|
G | A | 15 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0005g0091others(12): Show | 15 | HG00673.hp1 HG00738.hp2 HG01071.hp1 others(12): Show |
intron_variant | MODIFIER | c.1576+3248G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542487 | ||||||
| chr2:71542587
|
G | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+3348G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542587 | ||||||
| chr2:71542598
|
G | A | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1576+3359G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542598 | ||||||
| chr2:71542601
|
T | A | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+3362T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542601 | ||||||
| chr2:71542628
|
G | A | 7 | a0001c0005t0001g0092a0001c0016t0001g0026a0001c0016t0001g0027others(4): Show | 7 | HG01099.hp1 HG02300.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.1576+3389G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542628 | ||||||
| chr2:71542681
|
G | A | 14 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(11): Show | 14 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(11): Show |
intron_variant | MODIFIER | c.1576+3442G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542681 | ||||||
| chr2:71542841
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1576+3602C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542841 | ||||||
| chr2:71542900
|
T | TG | 4 | a0001c0003t0001g0007a0001c0057t0001g0009a0004c0011t0001g0146others(1): Show | 4 | HG01099.hp2 HG01109.hp1 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.1576+3665dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71542900 | |||||
| chr2:71542990
|
C | T | 2 | a0001c0002t0001g0099a0001c0002t0002g0182 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.1576+3751C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71542990 | ||||||
| chr2:71543054
|
C | T | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+3815C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543054 | ||||||
| chr2:71543056
|
C | T | 4 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0019t0002g0187others(1): Show | 4 | HG02717.hp1 HG03453.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1576+3817C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543056 | ||||||
| chr2:71543061
|
C | T | 1 | a0007c0027t0007g0159 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1576+3822C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543061 | ||||||
| chr2:71543077
|
C | T | 1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1576+3838C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543077 | ||||||
| chr2:71543082
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+3843G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543082 | ||||||
| chr2:71543087
|
CGCTCCTC others(32): Show |
C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+3862_1576+390 others(43): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543087 | |||||
| chr2:71543098
|
T | TC | 139 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1576+3861dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543098 | |||||
| chr2:71543117
|
G | T | 2 | a0003c0043t0001g0116a0003c0044t0001g0023 | 2 | HG02055.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1576+3878G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543117 | ||||||
| chr2:71543145
|
G | A | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1576+3906G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543145 | ||||||
| chr2:71543149
|
T | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+3910T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543149 | ||||||
| chr2:71543202
|
ACGCTCCT others(33): Show |
A | 75 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(72): Show | 75 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(72): Show |
intron_variant | MODIFIER | c.1576+3974_1576+401 others(44): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543202 | |||||
| chr2:71543221
|
C | T | 3 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145 | 3 | HG02647.hp1 HG03098.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1576+3982C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543221 | ||||||
| chr2:71543266
|
C | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1576+4027C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543266 | ||||||
| chr2:71543284
|
C | G | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1576+4045C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543284 | ||||||
| chr2:71543309
|
C | T | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0009c0029t0005g0084others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+4070C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543309 | ||||||
| chr2:71543320
|
A | G | 140 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1576+4081A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543320 | ||||||
| chr2:71543338
|
G | C | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1576+4099G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543338 | ||||||
| chr2:71543346
|
G | A | 1 | a0001c0002t0001g0040 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1576+4107G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543346 | ||||||
| chr2:71543352
|
G | A | 13 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(10): Show | 13 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.1576+4113G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543352 | ||||||
| chr2:71543421
|
C | T | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1576+4182C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543421 | ||||||
| chr2:71543423
|
G | A | 1 | a0001c0001t0002g0160 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1576+4184G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543423 | ||||||
| chr2:71543479
|
G | A | 3 | a0001c0005t0001g0143a0001c0013t0001g0057a0001c0039t0001g0061 | 3 | HG01978.hp1 HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.1576+4240G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543479 | ||||||
| chr2:71543537
|
C | T | 65 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(62): Show | 65 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(62): Show |
intron_variant | MODIFIER | c.1576+4298C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543537 | ||||||
| chr2:71543589
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+4350C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543589 | ||||||
| chr2:71543617
|
C | G | 13 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(10): Show | 13 | HG02258.hp2 HG02280.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1576+4378C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543617 | ||||||
| chr2:71543689
|
A | G | 1 | a0001c0002t0001g0017 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1576+4450A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543689 | ||||||
| chr2:71543693
|
C | G | 19 | a0001c0013t0002g0186a0001c0016t0001g0026a0001c0016t0001g0027others(16): Show | 19 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(16): Show |
intron_variant | MODIFIER | c.1576+4454C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543693 | ||||||
| chr2:71543723
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+4484G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543723 | ||||||
| chr2:71543807
|
C | T | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1576+4568C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543807 | ||||||
| chr2:71543812
|
G | C | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1576+4573G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543812 | ||||||
| chr2:71543832
|
G | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+4593G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543832 | ||||||
| chr2:71543837
|
CAGAGGGA others(18): Show |
C | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1576+4614_1576+463 others(29): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543837 | |||||
| chr2:71543851
|
GGAAAGAG others(1): Show |
G | 3 | a0001c0032t0002g0193a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02258.hp2 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1576+4614_1576+462 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543851 | |||||
| chr2:71543855
|
AGAGAGGG others(16): Show |
A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1576+4633_1576+465 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543855 | |||||
| chr2:71543859
|
A | AGGGAGAG others(10): Show |
9 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(6): Show | 9 | HG02280.hp2 HG02615.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1576+4633_1576+464 others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543859 | |||||
| chr2:71543870
|
G | T | 51 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(48): Show | 51 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.1576+4631G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543870 | ||||||
| chr2:71543924
|
AGGAGAG | A | 4 | a0001c0005t0001g0087a0001c0009t0001g0089a0001c0074t0001g0094others(1): Show | 4 | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.1576+4703_1576+470 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543924 | |||||
| chr2:71543930
|
G | GGGAGAGG others(11): Show |
1 | a0001c0084t0001g0038 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1576+4727_1576+474 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543930 | |||||
| chr2:71543948
|
C | CGGAGAGG others(5): Show |
2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1576+4715_1576+472 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71543948 | |||||
| chr2:71543972
|
G | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1576+4733G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71543972 | ||||||
| chr2:71544003
|
T | C | 139 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(136): Show | 139 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(136): Show |
intron_variant | MODIFIER | c.1576+4764T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544003 | ||||||
| chr2:71544007
|
T | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+4768T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544007 | ||||||
| chr2:71544101
|
A | C | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1576+4862A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544101 | ||||||
| chr2:71544169
|
T | C | 140 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(137): Show | 140 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(137): Show |
intron_variant | MODIFIER | c.1576+4930T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544169 | ||||||
| chr2:71544170
|
G | C | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1576+4931G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544170 | ||||||
| chr2:71544340
|
G | A | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1576+5101G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544340 | ||||||
| chr2:71544459
|
C | CT | 40 | a0001c0002t0002g0166a0001c0004t0001g0025a0001c0004t0001g0030others(37): Show | 40 | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(37): Show |
intron_variant | MODIFIER | c.1576+5237dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71544459 | |||||
| chr2:71544459
|
C | CTT | 69 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(66): Show | 69 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(66): Show |
intron_variant | MODIFIER | c.1576+5236_1576+523 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71544459 | |||||
| chr2:71544459
|
C | CTTT | 7 | a0001c0003t0001g0076a0001c0006t0001g0072a0001c0012t0001g0033others(4): Show | 7 | HG02148.hp1 HG02280.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1576+5235_1576+523 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71544459 | |||||
| chr2:71544459
|
CT | C | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1576+5237delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71544459 | |||||
| chr2:71544479
|
G | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+5240G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544479 | ||||||
| chr2:71544511
|
G | C | 14 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(11): Show | 14 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(11): Show |
intron_variant | MODIFIER | c.1576+5272G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544511 | ||||||
| chr2:71544547
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1576+5308C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544547 | ||||||
| chr2:71544662
|
T | C | 116 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(113): Show | 116 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(113): Show |
intron_variant | MODIFIER | c.1576+5423T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544662 | ||||||
| chr2:71544795
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1576+5556G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544795 | ||||||
| chr2:71544822
|
G | A | 115 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(112): Show | 115 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(112): Show |
intron_variant | MODIFIER | c.1576+5583G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544822 | ||||||
| chr2:71544849
|
C | T | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1576+5610C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544849 | ||||||
| chr2:71544886
|
T | C | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1576+5647T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71544886 | ||||||
| chr2:71545135
|
G | A | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1576+5896G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545135 | ||||||
| chr2:71545169
|
G | A | 1 | a0001c0001t0001g0137 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.1577-5872G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545169 | ||||||
| chr2:71545282
|
C | G | 1 | a0001c0050t0001g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1577-5759C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545282 | ||||||
| chr2:71545294
|
G | A | 1 | a0029c0072t0001g0144 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1577-5747G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545294 | ||||||
| chr2:71545419
|
C | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1577-5622C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545419 | ||||||
| chr2:71545462
|
C | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1577-5579C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545462 | ||||||
| chr2:71545644
|
A | C | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(2): Show | 5 | HG02647.hp1 HG02809.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1577-5397A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545644 | ||||||
| chr2:71545816
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1577-5225C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545816 | ||||||
| chr2:71545823
|
C | T | 2 | a0001c0013t0001g0057a0001c0067t0001g0083 | 2 | HG01978.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1577-5218C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545823 | ||||||
| chr2:71545926
|
G | A | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1577-5115G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545926 | ||||||
| chr2:71545954
|
G | C | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.1577-5087G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71545954 | ||||||
| chr2:71546029
|
A | G | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1577-5012A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546029 | ||||||
| chr2:71546047
|
GT | G | 13 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(10): Show | 13 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.1577-4993delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546047 | ||||||
| chr2:71546097
|
T | G | 2 | a0001c0005t0001g0092a0017c0038t0001g0015 | 2 | HG02300.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1577-4944T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546097 | ||||||
| chr2:71546191
|
C | G | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1577-4850C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546191 | ||||||
| chr2:71546406
|
A | T | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1577-4635A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546406 | ||||||
| chr2:71546610
|
C | T | 94 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(91): Show | 94 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(91): Show |
intron_variant | MODIFIER | c.1577-4431C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546610 | ||||||
| chr2:71546881
|
T | C | 136 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(133): Show | 136 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(133): Show |
intron_variant | MODIFIER | c.1577-4160T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546881 | ||||||
| chr2:71546966
|
A | G | 2 | a0001c0002t0002g0172a0001c0002t0002g0173 | 2 | HG04204.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1577-4075A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71546966 | ||||||
| chr2:71547192
|
G | A | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1577-3849G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547192 | ||||||
| chr2:71547204
|
G | A | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1577-3837G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547204 | ||||||
| chr2:71547251
|
A | G | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1577-3790A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547251 | ||||||
| chr2:71547376
|
T | A | 114 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(111): Show | 114 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(111): Show |
intron_variant | MODIFIER | c.1577-3665T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547376 | ||||||
| chr2:71547397
|
C | T | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1577-3644C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547397 | ||||||
| chr2:71547465
|
T | C | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1577-3576T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547465 | ||||||
| chr2:71547483
|
A | C | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1577-3558A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547483 | ||||||
| chr2:71547587
|
C | T | 4 | a0001c0006t0003g0204a0001c0037t0001g0044a0004c0011t0001g0081others(1): Show | 4 | HG01109.hp1 HG02818.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1577-3454C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547587 | ||||||
| chr2:71547639
|
C | CAATA | 3 | a0001c0013t0002g0186a0002c0070t0001g0079a0006c0076t0004g0019 | 3 | HG00438.hp1 HG02523.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1577-3387_1577-338 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71547639 | |||||
| chr2:71547699
|
C | G | 94 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(91): Show | 94 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(91): Show |
intron_variant | MODIFIER | c.1577-3342C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547699 | ||||||
| chr2:71547772
|
T | C | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1577-3269T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547772 | ||||||
| chr2:71547879
|
G | T | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1577-3162G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547879 | ||||||
| chr2:71547909
|
C | T | 3 | a0001c0003t0001g0043a0001c0009t0008g0196a0001c0085t0001g0029 | 3 | HG01167.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1577-3132C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547909 | ||||||
| chr2:71547929
|
G | C | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1577-3112G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547929 | ||||||
| chr2:71547977
|
G | A | 4 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(1): Show | 4 | HG02280.hp1 HG02976.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1577-3064G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71547977 | ||||||
| chr2:71548002
|
G | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1577-3039G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548002 | ||||||
| chr2:71548010
|
A | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1577-3031A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548010 | ||||||
| chr2:71548046
|
A | T | 20 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1577-2995A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548046 | ||||||
| chr2:71548174
|
G | A | 3 | a0001c0002t0002g0170a0001c0002t0002g0185a0001c0028t0001g0060 | 3 | HG02165.hp2 NA18612.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.1577-2867G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548174 | ||||||
| chr2:71548215
|
T | C | 136 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(133): Show | 136 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(133): Show |
intron_variant | MODIFIER | c.1577-2826T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548215 | ||||||
| chr2:71548310
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1577-2731C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548310 | ||||||
| chr2:71548360
|
T | C | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1577-2681T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548360 | ||||||
| chr2:71548386
|
G | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1577-2655G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548386 | ||||||
| chr2:71548391
|
C | T | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1577-2650C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548391 | ||||||
| chr2:71548414
|
G | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1577-2627G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548414 | ||||||
| chr2:71548422
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1577-2619A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548422 | ||||||
| chr2:71548440
|
A | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1577-2601A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548440 | ||||||
| chr2:71548457
|
G | A | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1577-2584G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548457 | ||||||
| chr2:71548574
|
CT | C | 51 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(48): Show | 51 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.1577-2466delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548574 | ||||||
| chr2:71548605
|
C | T | 4 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(1): Show | 4 | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.1577-2436C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548605 | ||||||
| chr2:71548609
|
C | T | 15 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(12): Show | 15 | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(12): Show |
intron_variant | MODIFIER | c.1577-2432C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548609 | ||||||
| chr2:71548631
|
C | T | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1577-2410C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548631 | ||||||
| chr2:71548800
|
AG | A | 12 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(9): Show | 12 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(9): Show |
intron_variant | MODIFIER | c.1577-2235delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 71548800 | |||||
| chr2:71548882
|
C | T | 8 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(5): Show | 8 | HG01167.hp2 HG02809.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1577-2159C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548882 | ||||||
| chr2:71548890
|
C | T | 9 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(6): Show | 9 | HG02257.hp1 HG02486.hp1 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1577-2151C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71548890 | ||||||
| chr2:71549040
|
T | C | 1 | a0004c0011t0001g0081 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1577-2001T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549040 | ||||||
| chr2:71549189
|
G | A | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1577-1852G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549189 | ||||||
| chr2:71549215
|
C | T | 93 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(90): Show | 93 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.1577-1826C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549215 | ||||||
| chr2:71549216
|
A | G | 137 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(134): Show | 137 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(134): Show |
intron_variant | MODIFIER | c.1577-1825A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549216 | ||||||
| chr2:71549236
|
A | G | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1577-1805A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549236 | ||||||
| chr2:71549406
|
C | G | 5 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012others(2): Show | 5 | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(2): Show |
intron_variant | MODIFIER | c.1577-1635C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549406 | ||||||
| chr2:71549519
|
T | G | 2 | a0001c0024t0001g0054a0001c0024t0001g0085 | 2 | HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1577-1522T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549519 | ||||||
| chr2:71549570
|
T | A | 1 | a0010c0046t0001g0066 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1577-1471T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549570 | ||||||
| chr2:71549980
|
C | A | 92 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(89): Show | 92 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(89): Show |
intron_variant | MODIFIER | c.1577-1061C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71549980 | ||||||
| chr2:71550062
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1577-979C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550062 | ||||||
| chr2:71550272
|
C | G | 1 | a0004c0011t0001g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1577-769C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550272 | ||||||
| chr2:71550450
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1577-591G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550450 | ||||||
| chr2:71550842
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1577-199G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550842 | ||||||
| chr2:71550934
|
G | A | 1 | a0001c0002t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1577-107G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550934 | ||||||
| chr2:71550938
|
G | A | 17 | a0001c0013t0002g0186a0001c0016t0001g0026a0001c0016t0001g0027others(14): Show | 17 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(14): Show |
intron_variant | MODIFIER | c.1577-103G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550938 | ||||||
| chr2:71550942
|
A | T | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1577-99A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71550942 | ||||||
| chr2:71551009
|
C | T | 1 | a0002c0022t0001g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1577-32C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 17/55 | chr2 | 71551009 | ||||||
| chr2:71551222
|
C | T | 2 | a0001c0001t0002g0194a0001c0073t0001g0128 | 2 | NA18963.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.1692+66C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551222 | ||||||
| chr2:71551362
|
C | T | 3 | a0001c0024t0001g0054a0001c0024t0001g0085a0001c0025t0001g0012 | 3 | HG00735.hp2 HG01074.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.1692+206C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551362 | ||||||
| chr2:71551443
|
G | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1693-164G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551443 | ||||||
| chr2:71551447
|
T | A | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1693-160T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551447 | ||||||
| chr2:71551521
|
A | G | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1693-86A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551521 | ||||||
| chr2:71551545
|
C | T | 23 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(20): Show | 23 | HG00438.hp1 HG01891.hp1 HG02258.hp2 others(20): Show |
intron_variant | MODIFIER | c.1693-62C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551545 | ||||||
| chr2:71551558
|
C | T | 12 | a0001c0013t0002g0186a0002c0021t0001g0042a0002c0021t0002g0149others(9): Show | 12 | HG00438.hp1 HG01891.hp1 HG02523.hp1 others(9): Show |
intron_variant | MODIFIER | c.1693-49C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 18/55 | chr2 | 71551558 | ||||||
| chr2:71551749
|
G | A | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1806+29G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551749 | ||||||
| chr2:71551751
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1806+31G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551751 | ||||||
| chr2:71551853
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1806+133C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551853 | ||||||
| chr2:71551854
|
G | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1806+134G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551854 | ||||||
| chr2:71551902
|
G | A | 93 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(90): Show | 93 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(90): Show |
intron_variant | MODIFIER | c.1806+182G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551902 | ||||||
| chr2:71551985
|
C | T | 23 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(20): Show | 23 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.1806+265C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71551985 | ||||||
| chr2:71552060
|
T | C | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1806+340T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552060 | ||||||
| chr2:71552204
|
T | C | 95 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(92): Show | 95 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(92): Show |
intron_variant | MODIFIER | c.1806+484T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552204 | ||||||
| chr2:71552379
|
C | T | 1 | a0002c0070t0001g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1807-632C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552379 | ||||||
| chr2:71552626
|
T | G | 126 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(123): Show | 126 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(123): Show |
intron_variant | MODIFIER | c.1807-385T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552626 | ||||||
| chr2:71552693
|
C | T | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1807-318C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552693 | ||||||
| chr2:71552723
|
T | C | 135 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(132): Show | 135 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(132): Show |
intron_variant | MODIFIER | c.1807-288T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552723 | ||||||
| chr2:71552987
|
C | G | 28 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(25): Show | 28 | HG00438.hp1 HG01891.hp1 HG02258.hp2 others(25): Show |
intron_variant | MODIFIER | c.1807-24C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 19/55 | chr2 | 71552987 | ||||||
| chr2:71553359
|
T | C | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1984+171T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/55 | chr2 | 71553359 | ||||||
| chr2:71553612
|
C | T | 4 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(1): Show | 4 | HG02280.hp1 HG02976.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1985-195C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/55 | chr2 | 71553612 | ||||||
| chr2:71553691
|
T | C | 126 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(123): Show | 126 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(123): Show |
intron_variant | MODIFIER | c.1985-116T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/55 | chr2 | 71553691 | ||||||
| chr2:71553769
|
C | T | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1985-38C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/55 | chr2 | 71553769 | ||||||
| chr2:71553776
|
C | A | 7 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(4): Show | 7 | HG01255.hp2 HG02109.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1985-31C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 20/55 | chr2 | 71553776 | ||||||
| chr2:71553981
|
A | G | 4 | a0001c0002t0001g0017a0001c0002t0001g0040a0001c0002t0001g0048others(1): Show | 4 | HG01433.hp2 HG01934.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.2109+50A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71553981 | ||||||
| chr2:71554031
|
GAC | G | 22 | a0001c0010t0001g0035a0001c0010t0001g0142a0001c0010t0005g0091others(19): Show | 22 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(19): Show |
intron_variant | MODIFIER | c.2109+105_2109+106d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | INFO_REALIGN_3_PRIME | chr2 | 71554031 | |||||
| chr2:71554108
|
T | C | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2109+177T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554108 | ||||||
| chr2:71554239
|
TACTC | T | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2109+314_2109+317d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | INFO_REALIGN_3_PRIME | chr2 | 71554239 | |||||
| chr2:71554280
|
G | A | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2109+349G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554280 | ||||||
| chr2:71554403
|
G | C | 1 | a0005c0034t0002g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2109+472G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554403 | ||||||
| chr2:71554588
|
A | G | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2109+657A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554588 | ||||||
| chr2:71554912
|
G | T | 1 | a0019c0049t0001g0104 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2109+981G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554912 | ||||||
| chr2:71554931
|
G | A | 1 | a0001c0003t0001g0013 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2109+1000G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554931 | ||||||
| chr2:71554933
|
ATGGATGG others(18): Show |
A | 1 | a0001c0003t0001g0013 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2109+1007_2110-100 others(29): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | INFO_REALIGN_3_PRIME | chr2 | 71554933 | |||||
| chr2:71554937
|
A | G | 97 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(94): Show | 97 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(94): Show |
intron_variant | MODIFIER | c.2109+1006A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71554937 | ||||||
| chr2:71555062
|
A | AGCATGGC | 7 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(4): Show | 7 | HG01255.hp2 HG02109.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.2110-902_2110-896d others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | INFO_REALIGN_3_PRIME | chr2 | 71555062 | |||||
| chr2:71555101
|
G | T | 2 | a0002c0021t0001g0042a0002c0023t0001g0123 | 2 | HG02723.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2110-864G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555101 | ||||||
| chr2:71555112
|
T | C | 124 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(121): Show | 124 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(121): Show |
intron_variant | MODIFIER | c.2110-853T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555112 | ||||||
| chr2:71555288
|
A | G | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2110-677A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555288 | ||||||
| chr2:71555317
|
G | A | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2110-648G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555317 | ||||||
| chr2:71555360
|
G | C | 4 | a0001c0002t0001g0017a0001c0002t0001g0040a0001c0002t0001g0048others(1): Show | 4 | HG01433.hp2 HG01934.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.2110-605G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555360 | ||||||
| chr2:71555421
|
G | A | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2110-544G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555421 | ||||||
| chr2:71555612
|
C | G | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2110-353C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555612 | ||||||
| chr2:71555634
|
C | G | 86 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(83): Show | 86 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(83): Show |
intron_variant | MODIFIER | c.2110-331C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555634 | ||||||
| chr2:71555659
|
A | C | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2110-306A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555659 | ||||||
| chr2:71555922
|
G | T | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2110-43G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | chr2 | 71555922 | ||||||
| chr2:71556087
|
C | T | 2 | a0001c0080t0001g0086a0001c0086t0001g0198 | 2 | HG04199.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2216+16C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71556087 | ||||||
| chr2:71556130
|
G | A | 3 | a0001c0032t0002g0193a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02258.hp2 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2216+59G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71556130 | ||||||
| chr2:71556655
|
C | A | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0084t0001g0038 | 3 | HG00735.hp1 HG02257.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2216+584C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71556655 | ||||||
| chr2:71556710
|
T | C | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2216+639T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71556710 | ||||||
| chr2:71557064
|
C | G | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2216+993C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557064 | ||||||
| chr2:71557089
|
C | T | 2 | a0001c0048t0002g0190a0019c0049t0001g0104 | 2 | HG03669.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.2216+1018C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557089 | ||||||
| chr2:71557253
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2216+1182C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557253 | ||||||
| chr2:71557320
|
G | T | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2216+1249G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557320 | ||||||
| chr2:71557410
|
A | C | 1 | a0004c0011t0001g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2216+1339A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557410 | ||||||
| chr2:71557483
|
G | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2216+1412G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557483 | ||||||
| chr2:71557515
|
C | A | 1 | a0001c0024t0001g0085 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2216+1444C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557515 | ||||||
| chr2:71557527
|
T | A | 107 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(104): Show | 107 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.2216+1456T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557527 | ||||||
| chr2:71557544
|
C | T | 1 | a0001c0012t0001g0033 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2216+1473C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557544 | ||||||
| chr2:71557592
|
G | A | 11 | a0001c0003t0001g0114a0001c0003t0001g0127a0001c0003t0002g0161others(8): Show | 11 | HG01433.hp1 HG01978.hp1 HG02300.hp1 others(8): Show |
intron_variant | MODIFIER | c.2216+1521G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557592 | ||||||
| chr2:71557657
|
G | A | 23 | a0001c0010t0001g0035a0001c0010t0001g0041a0001c0010t0001g0142others(20): Show | 23 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(20): Show |
intron_variant | MODIFIER | c.2216+1586G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557657 | ||||||
| chr2:71557878
|
A | G | 1 | a0001c0002t0001g0017 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2216+1807A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557878 | ||||||
| chr2:71557948
|
C | T | 1 | a0001c0081t0001g0018 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2216+1877C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71557948 | ||||||
| chr2:71558031
|
C | CA | 13 | a0001c0004t0001g0080a0001c0004t0003g0112a0001c0004t0003g0113others(10): Show | 13 | HG00735.hp2 HG01255.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.2216+1973dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71558031 | |||||
| chr2:71558057
|
C | T | 2 | a0005c0034t0002g0153a0005c0035t0001g0122 | 2 | HG01081.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.2216+1986C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558057 | ||||||
| chr2:71558121
|
G | A | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2216+2050G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558121 | ||||||
| chr2:71558150
|
G | A | 11 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(8): Show | 11 | HG02258.hp2 HG02615.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.2216+2079G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558150 | ||||||
| chr2:71558370
|
A | AG | 3 | a0001c0007t0004g0020a0001c0007t0004g0022a0003c0065t0001g0110 | 3 | HG02615.hp2 HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2216+2300dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71558370 | |||||
| chr2:71558663
|
C | T | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(2): Show | 5 | HG01981.hp1 HG02280.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.2216+2592C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558663 | ||||||
| chr2:71558753
|
G | A | 2 | a0001c0015t0001g0034a0001c0015t0001g0207 | 2 | HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2216+2682G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558753 | ||||||
| chr2:71558784
|
G | C | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.2216+2713G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558784 | ||||||
| chr2:71558813
|
C | G | 118 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(115): Show | 118 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(115): Show |
intron_variant | MODIFIER | c.2216+2742C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558813 | ||||||
| chr2:71558873
|
T | C | 1 | a0001c0001t0001g0002 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.2216+2802T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71558873 | ||||||
| chr2:71559023
|
T | C | 135 | a0001c0002t0002g0181a0001c0003t0001g0006a0001c0003t0001g0007others(132): Show | 135 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(132): Show |
intron_variant | MODIFIER | c.2217-2729T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559023 | ||||||
| chr2:71559044
|
G | C | 2 | a0001c0015t0001g0034a0001c0015t0001g0207 | 2 | HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2217-2708G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559044 | ||||||
| chr2:71559092
|
C | T | 20 | a0001c0010t0001g0041a0001c0010t0001g0142a0001c0010t0005g0091others(17): Show | 20 | HG00673.hp1 HG00735.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.2217-2660C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559092 | ||||||
| chr2:71559191
|
C | T | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2217-2561C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559191 | ||||||
| chr2:71559194
|
G | A | 4 | a0001c0037t0001g0044a0003c0088t0006g0192a0004c0011t0001g0081others(1): Show | 4 | HG01099.hp1 HG01109.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2217-2558G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559194 | ||||||
| chr2:71559404
|
C | T | 2 | a0001c0024t0001g0054a0021c0064t0001g0058 | 2 | HG00738.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.2217-2348C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559404 | ||||||
| chr2:71559429
|
C | T | 6 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(3): Show | 6 | HG01981.hp1 HG02280.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.2217-2323C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559429 | ||||||
| chr2:71559777
|
T | A | 4 | a0001c0037t0001g0044a0003c0088t0006g0192a0004c0011t0001g0081others(1): Show | 4 | HG01099.hp1 HG01109.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2217-1975T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559777 | ||||||
| chr2:71559804
|
C | T | 7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.2217-1948C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559804 | ||||||
| chr2:71559856
|
C | T | 7 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(4): Show | 7 | HG01255.hp2 HG02109.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.2217-1896C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71559856 | ||||||
| chr2:71560059
|
G | A | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2217-1693G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560059 | ||||||
| chr2:71560181
|
G | C | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2217-1571G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560181 | ||||||
| chr2:71560251
|
T | C | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0001c0078t0001g0199others(2): Show | 5 | HG02258.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.2217-1501T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560251 | ||||||
| chr2:71560301
|
C | T | 71 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(68): Show | 71 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(68): Show |
intron_variant | MODIFIER | c.2217-1451C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560301 | ||||||
| chr2:71560322
|
C | T | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2217-1430C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560322 | ||||||
| chr2:71560358
|
C | T | 1 | a0001c0009t0001g0053 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2217-1394C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560358 | ||||||
| chr2:71560380
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2217-1372C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560380 | ||||||
| chr2:71560389
|
G | C | 1 | a0001c0014t0002g0175 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2217-1363G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560389 | ||||||
| chr2:71560417
|
G | GCCCCAGC others(22): Show |
88 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(85): Show | 88 | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(85): Show |
intron_variant | MODIFIER | c.2217-1331_2217-133 others(33): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71560417 | |||||
| chr2:71560417
|
G | GCCCCAGC others(23): Show |
20 | a0001c0004t0001g0032a0001c0004t0003g0112a0001c0004t0003g0113others(17): Show | 20 | HG01099.hp1 HG01261.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.2217-1331_2217-133 others(34): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71560417 | |||||
| chr2:71560417
|
G | GCCCCAGC others(24): Show |
12 | a0001c0003t0001g0114a0001c0003t0001g0127a0001c0008t0001g0109others(9): Show | 12 | HG01109.hp1 HG01255.hp2 HG02523.hp1 others(9): Show |
intron_variant | MODIFIER | c.2217-1331_2217-133 others(35): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71560417 | |||||
| chr2:71560417
|
G | GCCCCAGC others(25): Show |
3 | a0002c0022t0001g0201a0002c0023t0001g0036a0002c0070t0001g0079 | 3 | HG00438.hp1 HG03139.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.2217-1331_2217-133 others(36): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71560417 | |||||
| chr2:71560421
|
C | CAGCACAG others(23): Show |
7 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(4): Show | 7 | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.2217-1331_2217-133 others(34): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560421 | ||||||
| chr2:71560595
|
C | A | 4 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(1): Show | 4 | HG02280.hp1 HG02976.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.2217-1157C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560595 | ||||||
| chr2:71560674
|
GCGGCGGT others(12): Show |
G | 1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2217-1070_2217-105 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71560674 | |||||
| chr2:71560817
|
G | C | 12 | a0001c0003t0001g0127a0001c0008t0001g0109a0001c0008t0002g0157others(9): Show | 12 | HG00438.hp1 HG02523.hp1 HG03139.hp2 others(9): Show |
intron_variant | MODIFIER | c.2217-935G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560817 | ||||||
| chr2:71560965
|
T | C | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2217-787T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71560965 | ||||||
| chr2:71561004
|
C | T | 5 | a0001c0004t0001g0080a0001c0015t0001g0034a0001c0015t0001g0207others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.2217-748C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561004 | ||||||
| chr2:71561105
|
G | A | 70 | a0001c0001t0001g0108a0001c0001t0001g0137a0001c0001t0002g0184others(67): Show | 70 | HG00438.hp2 HG00642.hp1 HG00642.hp2 others(67): Show |
intron_variant | MODIFIER | c.2217-647G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561105 | ||||||
| chr2:71561396
|
A | AC | 9 | a0001c0007t0001g0139a0001c0007t0002g0148a0001c0007t0004g0020others(6): Show | 9 | HG02055.hp2 HG02615.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.2217-351dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | 71561396 | |||||
| chr2:71561536
|
C | T | 1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2217-216C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561536 | ||||||
| chr2:71561649
|
C | T | 17 | a0001c0004t0001g0080a0001c0007t0001g0139a0001c0007t0002g0148others(14): Show | 17 | HG00735.hp1 HG00738.hp2 HG01123.hp2 others(14): Show |
intron_variant | MODIFIER | c.2217-103C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561649 | ||||||
| chr2:71561726
|
G | A | 1 | a0001c0018t0001g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.2217-26G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561726 | ||||||
| chr2:71561741
|
G | A | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2217-11G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | chr2 | 71561741 | ||||||
| chr2:71562097
|
A | G | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2409+153A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562097 | ||||||
| chr2:71562181
|
G | A | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2409+237G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562181 | ||||||
| chr2:71562218
|
C | T | 1 | a0001c0031t0001g0120 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2409+274C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562218 | ||||||
| chr2:71562301
|
A | G | 4 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(1): Show | 4 | HG02109.hp1 HG02965.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2409+357A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562301 | ||||||
| chr2:71562340
|
AC | A | 4 | a0003c0043t0001g0116a0003c0044t0001g0023a0003c0090t0001g0136others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2409+398delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | INFO_REALIGN_3_PRIME | chr2 | 71562340 | |||||
| chr2:71562487
|
C | T | 5 | a0002c0022t0001g0111a0002c0022t0001g0201a0002c0023t0001g0036others(2): Show | 5 | HG03139.hp2 HG03486.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.2409+543C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562487 | ||||||
| chr2:71562505
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2409+561C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562505 | ||||||
| chr2:71562671
|
C | T | 2 | a0001c0005t0001g0074a0001c0005t0002g0177 | 2 | HG04204.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2409+727C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562671 | ||||||
| chr2:71562705
|
C | T | 2 | a0001c0009t0008g0196a0027c0059t0005g0117 | 2 | HG01167.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2409+761C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562705 | ||||||
| chr2:71562814
|
T | G | 4 | a0003c0043t0001g0116a0003c0044t0001g0023a0003c0090t0001g0136others(1): Show | 4 | HG02055.hp2 HG02717.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2409+870T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562814 | ||||||
| chr2:71562879
|
G | A | 3 | a0001c0010t0001g0035a0001c0067t0001g0083a0002c0023t0001g0123 | 3 | HG01891.hp2 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2409+935G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71562879 | ||||||
| chr2:71563309
|
C | T | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208 | 3 | HG02976.hp2 HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2410-749C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563309 | ||||||
| chr2:71563439
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2410-619C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563439 | ||||||
| chr2:71563627
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2410-431C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563627 | ||||||
| chr2:71563665
|
G | A | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2410-393G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563665 | ||||||
| chr2:71563837
|
C | A | 1 | a0001c0002t0002g0163 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.2410-221C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563837 | ||||||
| chr2:71563941
|
A | G | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2410-117A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563941 | ||||||
| chr2:71563991
|
C | T | 1 | a0010c0046t0001g0066 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2410-67C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71563991 | ||||||
| chr2:71564007
|
C | T | 4 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(1): Show | 4 | HG02109.hp1 HG02965.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.2410-51C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 23/55 | chr2 | 71564007 | ||||||
| chr2:71564447
|
G | T | 21 | a0001c0003t0001g0013a0001c0005t0001g0070a0001c0005t0001g0143others(18): Show | 21 | HG00140.hp2 HG00673.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2565+234G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71564447 | ||||||
| chr2:71564630
|
C | T | 3 | a0001c0005t0001g0087a0016c0036t0001g0115a0020c0062t0001g0045 | 3 | HG02630.hp1 HG03017.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.2565+417C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71564630 | ||||||
| chr2:71564640
|
G | A | 4 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0047t0003g0145others(1): Show | 4 | HG02280.hp2 HG02647.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2565+427G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71564640 | ||||||
| chr2:71565008
|
G | T | 5 | a0002c0022t0001g0111a0002c0022t0001g0201a0002c0023t0001g0036others(2): Show | 5 | HG03139.hp2 HG03486.hp2 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.2565+795G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565008 | ||||||
| chr2:71565054
|
G | A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2565+841G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565054 | ||||||
| chr2:71565054
|
G | C | 3 | a0001c0010t0001g0035a0001c0067t0001g0083a0002c0023t0001g0123 | 3 | HG01891.hp2 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2565+841G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565054 | ||||||
| chr2:71565166
|
C | T | 45 | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0008others(42): Show | 45 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.2565+953C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565166 | ||||||
| chr2:71565246
|
C | CT | 30 | a0001c0001t0001g0002a0001c0003t0001g0013a0001c0003t0001g0043others(27): Show | 30 | HG00140.hp2 HG00673.hp1 HG00738.hp2 others(27): Show |
intron_variant | MODIFIER | c.2565+1051dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
C | CTT | 6 | a0001c0010t0001g0035a0001c0026t0001g0095a0001c0026t0001g0097others(3): Show | 6 | HG00735.hp1 HG01891.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.2565+1050_2565+105 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
C | CTTTTTTT others(1): Show |
6 | a0001c0005t0001g0087a0001c0010t0005g0091a0003c0088t0006g0192others(3): Show | 6 | HG01099.hp1 HG02630.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.2565+1044_2565+105 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
C | CTTTTTTT others(6): Show |
1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2565+1039_2565+105 others(17): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
C | CTTTTTTT others(14): Show |
3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2565+1051_2565+105 others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
C | CTTTTTTT others(15): Show |
1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2565+1051_2565+105 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565246
|
CTTTT | C | 6 | a0001c0006t0003g0204a0001c0007t0002g0189a0003c0043t0001g0116others(3): Show | 6 | HG02055.hp2 HG02647.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.2565+1048_2565+105 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71565246 | |||||
| chr2:71565442
|
C | T | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208 | 3 | HG02976.hp2 HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2565+1229C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565442 | ||||||
| chr2:71565452
|
G | A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2565+1239G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565452 | ||||||
| chr2:71565518
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2565+1305C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565518 | ||||||
| chr2:71565609
|
C | A | 13 | a0001c0005t0001g0087a0001c0006t0003g0204a0001c0007t0002g0189others(10): Show | 13 | HG01099.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2565+1396C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565609 | ||||||
| chr2:71565611
|
G | C | 13 | a0001c0005t0001g0087a0001c0006t0003g0204a0001c0007t0002g0189others(10): Show | 13 | HG01099.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2565+1398G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565611 | ||||||
| chr2:71565612
|
A | C | 13 | a0001c0005t0001g0087a0001c0006t0003g0204a0001c0007t0002g0189others(10): Show | 13 | HG01099.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2565+1399A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565612 | ||||||
| chr2:71565613
|
TG | T | 13 | a0001c0005t0001g0087a0001c0006t0003g0204a0001c0007t0002g0189others(10): Show | 13 | HG01099.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2565+1401delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565613 | ||||||
| chr2:71565615
|
C | A | 13 | a0001c0005t0001g0087a0001c0006t0003g0204a0001c0007t0002g0189others(10): Show | 13 | HG01099.hp1 HG02055.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.2565+1402C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565615 | ||||||
| chr2:71565675
|
A | C | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208 | 3 | HG02976.hp2 HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2565+1462A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565675 | ||||||
| chr2:71565892
|
C | G | 1 | a0001c0002t0002g0164 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2565+1679C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565892 | ||||||
| chr2:71565939
|
G | A | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2565+1726G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565939 | ||||||
| chr2:71565999
|
G | A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2565+1786G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71565999 | ||||||
| chr2:71566021
|
A | C | 1 | a0002c0021t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2565+1808A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566021 | ||||||
| chr2:71566022
|
G | T | 1 | a0002c0021t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2565+1809G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566022 | ||||||
| chr2:71566079
|
A | G | 3 | a0001c0010t0001g0035a0001c0067t0001g0083a0002c0023t0001g0123 | 3 | HG01891.hp2 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2565+1866A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566079 | ||||||
| chr2:71566214
|
G | A | 1 | a0029c0072t0001g0144 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2566-1737G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566214 | ||||||
| chr2:71566229
|
G | A | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208 | 3 | HG02976.hp2 HG03579.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2566-1722G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566229 | ||||||
| chr2:71566233
|
C | T | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2566-1718C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566233 | ||||||
| chr2:71566235
|
G | A | 1 | a0001c0003t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2566-1716G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566235 | ||||||
| chr2:71566353
|
C | CA | 31 | a0001c0001t0002g0194a0001c0002t0001g0048a0001c0002t0001g0051others(28): Show | 31 | HG00438.hp2 HG00673.hp1 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.2566-1574dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71566353 | |||||
| chr2:71566353
|
CA | C | 20 | a0001c0001t0001g0002a0001c0001t0001g0037a0001c0001t0001g0082others(17): Show | 20 | HG02055.hp2 HG02970.hp2 HG02976.hp2 others(17): Show |
intron_variant | MODIFIER | c.2566-1574delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71566353 | |||||
| chr2:71566533
|
CAG | C | 2 | a0001c0014t0001g0004a0019c0049t0001g0104 | 2 | HG03669.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.2566-1407_2566-140 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 71566533 | |||||
| chr2:71566577
|
G | C | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2566-1374G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566577 | ||||||
| chr2:71566636
|
G | A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2566-1315G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566636 | ||||||
| chr2:71566737
|
G | C | 4 | a0001c0009t0001g0064a0001c0018t0001g0088a0001c0079t0001g0068others(1): Show | 4 | HG01081.hp1 HG02683.hp2 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.2566-1214G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566737 | ||||||
| chr2:71566839
|
C | T | 2 | a0001c0048t0002g0190a0003c0088t0006g0192 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.2566-1112C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71566839 | ||||||
| chr2:71567018
|
C | T | 3 | a0001c0010t0001g0035a0001c0067t0001g0083a0002c0023t0001g0123 | 3 | HG01891.hp2 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2566-933C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567018 | ||||||
| chr2:71567071
|
G | A | 3 | a0001c0010t0001g0035a0001c0067t0001g0083a0002c0023t0001g0123 | 3 | HG01891.hp2 HG02723.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2566-880G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567071 | ||||||
| chr2:71567193
|
A | C | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2566-758A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567193 | ||||||
| chr2:71567236
|
G | C | 8 | a0001c0009t0008g0196a0001c0010t0001g0142a0001c0032t0002g0193others(5): Show | 8 | HG01167.hp1 HG02055.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2566-715G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567236 | ||||||
| chr2:71567258
|
T | C | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2566-693T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567258 | ||||||
| chr2:71567905
|
G | A | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0084t0001g0038 | 3 | HG00735.hp1 HG02257.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2566-46G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | chr2 | 71567905 | ||||||
| chr2:71568422
|
G | C | 13 | a0001c0003t0001g0013a0001c0005t0001g0070a0001c0005t0001g0143others(10): Show | 13 | HG00673.hp1 HG01074.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.2864+84G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568422 | ||||||
| chr2:71568450
|
C | T | 2 | a0003c0043t0001g0116a0024c0045t0001g0093 | 2 | HG02055.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2864+112C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568450 | ||||||
| chr2:71568564
|
A | AT | 28 | a0001c0003t0001g0013a0001c0005t0001g0070a0001c0005t0001g0143others(25): Show | 28 | HG00673.hp1 HG01074.hp1 HG01099.hp1 others(25): Show |
intron_variant | MODIFIER | c.2864+241dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | INFO_REALIGN_3_PRIME | chr2 | 71568564 | |||||
| chr2:71568564
|
A | T | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2864+226A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568564 | ||||||
| chr2:71568565
|
T | A | 2 | a0001c0005t0001g0092a0001c0006t0001g0072 | 2 | HG02300.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.2864+227T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568565 | ||||||
| chr2:71568582
|
G | C | 22 | a0001c0003t0001g0013a0001c0005t0001g0070a0001c0005t0001g0143others(19): Show | 22 | HG00673.hp1 HG01074.hp1 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.2864+244G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568582 | ||||||
| chr2:71568826
|
G | T | 5 | a0001c0006t0001g0121a0001c0020t0001g0131a0001c0020t0001g0132others(2): Show | 5 | NA18947.hp2 NA18962.hp1 NA18962.hp2 others(2): Show |
intron_variant | MODIFIER | c.2864+488G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568826 | ||||||
| chr2:71568851
|
A | G | 11 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(8): Show | 11 | HG01167.hp2 HG01891.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.2864+513A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568851 | ||||||
| chr2:71568872
|
C | G | 3 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134 | 3 | HG02109.hp1 HG02965.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2864+534C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568872 | ||||||
| chr2:71568880
|
T | C | 6 | a0001c0009t0008g0196a0001c0010t0001g0142a0001c0032t0002g0193others(3): Show | 6 | HG01167.hp1 HG02055.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2864+542T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568880 | ||||||
| chr2:71568904
|
G | A | 1 | a0004c0011t0001g0103 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2864+566G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568904 | ||||||
| chr2:71568962
|
TC | T | 3 | a0001c0037t0001g0044a0004c0011t0001g0081a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2864+627delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | INFO_REALIGN_3_PRIME | chr2 | 71568962 | |||||
| chr2:71568965
|
C | T | 2 | a0003c0088t0006g0192a0028c0068t0001g0202 | 2 | HG01099.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.2864+627C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71568965 | ||||||
| chr2:71569126
|
G | A | 4 | a0001c0032t0002g0193a0001c0042t0001g0141a0001c0078t0001g0199others(1): Show | 4 | HG02258.hp2 HG03130.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.2865-694G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71569126 | ||||||
| chr2:71569404
|
T | C | 4 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(1): Show | 4 | HG02976.hp2 HG03225.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.2865-416T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71569404 | ||||||
| chr2:71569735
|
C | G | 150 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0105others(147): Show | 150 | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.2865-85C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 26/55 | chr2 | 71569735 | ||||||
| chr2:71570046
|
A | C | 109 | a0001c0001t0001g0078a0001c0001t0001g0135a0001c0001t0002g0160others(106): Show | 109 | HG00140.hp2 HG00438.hp2 HG00642.hp1 others(106): Show |
intron_variant | MODIFIER | c.2979+112A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 27/55 | chr2 | 71570046 | ||||||
| chr2:71570214
|
C | T | 2 | a0001c0074t0001g0094a0009c0029t0005g0084 | 2 | NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2980-15C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 27/55 | chr2 | 71570214 | ||||||
| chr2:71570582
|
G | A | 44 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(41): Show | 44 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(41): Show |
intron_variant | MODIFIER | c.3086-17G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 28/55 | chr2 | 71570582 | ||||||
| chr2:71570883
|
C | CAGATCAC others(15): Show |
3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3228+161_3228+182d others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71570883 | |||||
| chr2:71570902
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+161C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570902 | ||||||
| chr2:71570905
|
A | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+164A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570905 | ||||||
| chr2:71570915
|
C | T | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3228+174C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570915 | ||||||
| chr2:71570927
|
CAGATCAC others(15): Show |
C | 18 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(15): Show | 18 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.3228+205_3228+226d others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71570927 | |||||
| chr2:71570937
|
C | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+196C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570937 | ||||||
| chr2:71570938
|
C | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+197C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570938 | ||||||
| chr2:71570939
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+198A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570939 | ||||||
| chr2:71570941
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+200C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570941 | ||||||
| chr2:71570942
|
ATACC | A | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+202_3228+205d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570942 | ||||||
| chr2:71570943
|
T | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+202T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570943 | ||||||
| chr2:71570949
|
A | C | 5 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(2): Show | 5 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+208A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570949 | ||||||
| chr2:71570959
|
C | T | 5 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(2): Show | 5 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+218C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570959 | ||||||
| chr2:71570960
|
C | G | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+219C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570960 | ||||||
| chr2:71570961
|
A | G | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+220A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570961 | ||||||
| chr2:71570963
|
C | A | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+222C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570963 | ||||||
| chr2:71570965
|
T | C | 5 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(2): Show | 5 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+224T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570965 | ||||||
| chr2:71570968
|
A | C | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+227A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570968 | ||||||
| chr2:71570981
|
C | T | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+240C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570981 | ||||||
| chr2:71570984
|
GCACACAG others(37): Show |
G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+253_3228+296d others(46): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71570984 | |||||
| chr2:71570990
|
AGATCACA others(11): Show |
A | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+250_3228+267d others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71570990 | ||||||
| chr2:71571021
|
T | C | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+280T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571021 | ||||||
| chr2:71571021
|
TCAGCACA others(15): Show |
T | 5 | a0001c0002t0001g0052a0001c0010t0001g0035a0001c0042t0001g0141others(2): Show | 5 | HG01891.hp2 HG02630.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+297_3228+318d others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571021 | |||||
| chr2:71571024
|
GCACA | G | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0009c0029t0005g0084others(1): Show | 4 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+290_3228+293d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571024 | |||||
| chr2:71571028
|
A | ACACACAG others(11): Show |
4 | a0001c0006t0003g0204a0004c0011t0001g0081a0004c0011t0001g0103others(1): Show | 4 | HG01109.hp1 HG02818.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.3228+296_3228+297i others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571028 | |||||
| chr2:71571028
|
ACACACAG others(73): Show |
A | 13 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(10): Show | 13 | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.3228+297_3228+376d others(82): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571028 | |||||
| chr2:71571038
|
T | C | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3228+297T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571038 | ||||||
| chr2:71571305
|
T | C | 18 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(15): Show | 18 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.3228+564T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571305 | ||||||
| chr2:71571372
|
G | GCACAGAT others(33): Show |
1 | a0001c0006t0003g0204 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3228+676_3228+715d others(42): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571372 | |||||
| chr2:71571385
|
TCAGCACA others(13): Show |
T | 3 | a0002c0021t0002g0149a0030c0069t0001g0200a0031c0071t0005g0077 | 3 | HG01891.hp1 HG02965.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3228+663_3228+682d others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571385 | |||||
| chr2:71571410
|
ACACACAG others(11): Show |
A | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(1): Show | 4 | HG03471.hp1 NA18906.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+676_3228+693d others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571410 | |||||
| chr2:71571428
|
GCACACAC others(15): Show |
G | 43 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(40): Show | 43 | HG00438.hp1 HG00544.hp1 HG01074.hp2 others(40): Show |
intron_variant | MODIFIER | c.3228+718_3228+739d others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571428 | |||||
| chr2:71571431
|
C | G | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3228+690C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571431 | ||||||
| chr2:71571438
|
A | C | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(1): Show | 4 | HG03471.hp1 NA18906.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+697A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571438 | ||||||
| chr2:71571448
|
GCA | G | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(1): Show | 4 | HG03471.hp1 NA18906.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+716_3228+717d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571448 | |||||
| chr2:71571450
|
A | ACACACAC others(13): Show |
13 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(10): Show | 13 | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.3228+718_3228+719i others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571450 | |||||
| chr2:71571460
|
A | ATCACACC others(13): Show |
7 | a0001c0010t0001g0035a0001c0042t0001g0141a0001c0078t0001g0199others(4): Show | 7 | HG01109.hp1 HG01891.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.3228+737_3228+738i others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571460 | |||||
| chr2:71571460
|
A | C | 19 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(16): Show | 19 | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(16): Show |
intron_variant | MODIFIER | c.3228+719A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571460 | ||||||
| chr2:71571470
|
GCACACAC others(33): Show |
G | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3228+738_3228+777d others(42): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571470 | |||||
| chr2:71571479
|
C | G | 1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3228+738C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571479 | ||||||
| chr2:71571480
|
A | C | 1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3228+739A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571480 | ||||||
| chr2:71571488
|
C | T | 11 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(8): Show | 11 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.3228+747C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571488 | ||||||
| chr2:71571493
|
C | CACACATA others(15): Show |
1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3228+752_3228+753i others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571493 | ||||||
| chr2:71571493
|
C | CAT | 24 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(21): Show | 24 | HG01099.hp1 HG01109.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.3228+752_3228+753i others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571493 | ||||||
| chr2:71571493
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3228+752C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571493 | ||||||
| chr2:71571510
|
C | G | 5 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(2): Show | 5 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+769C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571510 | ||||||
| chr2:71571530
|
GCA | G | 22 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(19): Show | 22 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(19): Show |
intron_variant | MODIFIER | c.3228+798_3228+799d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571530 | |||||
| chr2:71571539
|
C | T | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3228+798C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571539 | ||||||
| chr2:71571555
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3228+814C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571555 | ||||||
| chr2:71571556
|
G | A | 3 | a0001c0003t0001g0098a0002c0023t0001g0123a0003c0088t0006g0192 | 3 | HG01099.hp1 HG02523.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+815G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571556 | ||||||
| chr2:71571572
|
C | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3228+831C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571572 | ||||||
| chr2:71571582
|
A | C | 13 | a0001c0003t0001g0043a0001c0009t0008g0196a0001c0026t0001g0095others(10): Show | 13 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.3228+841A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571582 | ||||||
| chr2:71571602
|
C | A | 7 | a0001c0001t0002g0167a0001c0002t0002g0165a0001c0002t0002g0185others(4): Show | 7 | HG00438.hp1 HG02165.hp2 HG03710.hp1 others(4): Show |
intron_variant | MODIFIER | c.3228+861C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571602 | ||||||
| chr2:71571617
|
C | T | 7 | a0001c0001t0002g0167a0001c0002t0002g0165a0001c0002t0002g0185others(4): Show | 7 | HG00438.hp1 HG02165.hp2 HG03710.hp1 others(4): Show |
intron_variant | MODIFIER | c.3228+876C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571617 | ||||||
| chr2:71571618
|
A | G | 7 | a0001c0001t0002g0167a0001c0002t0002g0165a0001c0002t0002g0185others(4): Show | 7 | HG00438.hp1 HG02165.hp2 HG03710.hp1 others(4): Show |
intron_variant | MODIFIER | c.3228+877A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571618 | ||||||
| chr2:71571618
|
ACACAGAT others(216): Show |
A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3228+893_3228+1115 others(3): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571618 | |||||
| chr2:71571621
|
C | G | 7 | a0001c0001t0002g0167a0001c0002t0002g0165a0001c0002t0002g0185others(4): Show | 7 | HG00438.hp1 HG02165.hp2 HG03710.hp1 others(4): Show |
intron_variant | MODIFIER | c.3228+880C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571621 | ||||||
| chr2:71571635
|
C | T | 1 | a0001c0006t0003g0204 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3228+894C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571635 | ||||||
| chr2:71571643
|
G | C | 26 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(23): Show | 26 | HG01099.hp1 HG01109.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.3228+902G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571643 | ||||||
| chr2:71571727
|
C | G | 22 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(19): Show | 22 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(19): Show |
intron_variant | MODIFIER | c.3228+986C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571727 | ||||||
| chr2:71571728
|
C | T | 22 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(19): Show | 22 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(19): Show |
intron_variant | MODIFIER | c.3228+987C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571728 | ||||||
| chr2:71571762
|
G | C | 5 | a0001c0001t0001g0108a0001c0001t0001g0130a0001c0001t0002g0154others(2): Show | 5 | NA18948.hp1 NA18971.hp1 NA18973.hp2 others(2): Show |
intron_variant | MODIFIER | c.3228+1021G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571762 | ||||||
| chr2:71571810
|
A | G | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3228+1069A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571810 | ||||||
| chr2:71571840
|
T | C | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3228+1099T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571840 | ||||||
| chr2:71571857
|
C | G | 18 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(15): Show | 18 | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(15): Show |
intron_variant | MODIFIER | c.3228+1116C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571857 | ||||||
| chr2:71571867
|
A | ATCACACC others(13): Show |
1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3228+1145_3228+116 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71571867 | |||||
| chr2:71571903
|
A | G | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.3228+1162A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571903 | ||||||
| chr2:71571972
|
G | C | 46 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(43): Show | 46 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.3228+1231G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571972 | ||||||
| chr2:71571989
|
A | T | 11 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(8): Show | 11 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.3228+1248A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71571989 | ||||||
| chr2:71572027
|
T | TACACCTA others(15): Show |
21 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(18): Show | 21 | HG01891.hp2 HG02615.hp2 HG02630.hp1 others(18): Show |
intron_variant | MODIFIER | c.3228+1292_3228+131 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71572027 | |||||
| chr2:71572055
|
C | T | 2 | a0002c0023t0001g0123a0003c0088t0006g0192 | 2 | HG01099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+1314C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572055 | ||||||
| chr2:71572063
|
A | C | 2 | a0002c0023t0001g0123a0003c0088t0006g0192 | 2 | HG01099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+1322A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572063 | ||||||
| chr2:71572073
|
CACCCAGC others(15): Show |
C | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3228+1365_3228+138 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71572073 | |||||
| chr2:71572085
|
C | A | 2 | a0002c0023t0001g0123a0003c0088t0006g0192 | 2 | HG01099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+1344C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572085 | ||||||
| chr2:71572095
|
T | C | 2 | a0002c0023t0001g0123a0003c0088t0006g0192 | 2 | HG01099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+1354T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572095 | ||||||
| chr2:71572112
|
GATC | G | 11 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(8): Show | 11 | HG02615.hp2 HG02717.hp1 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.3228+1374_3228+137 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71572112 | |||||
| chr2:71572115
|
C | CATACCTA others(12): Show |
2 | a0002c0023t0001g0123a0003c0088t0006g0192 | 2 | HG01099.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3228+1379_3228+138 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71572115 | |||||
| chr2:71572171
|
C | G | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3228+1430C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572171 | ||||||
| chr2:71572231
|
A | ACACAGAT others(7): Show |
23 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(20): Show | 23 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show |
intron_variant | MODIFIER | c.3228+1490_3228+149 others(18): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572231 | ||||||
| chr2:71572232
|
T | A | 23 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(20): Show | 23 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show |
intron_variant | MODIFIER | c.3228+1491T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572232 | ||||||
| chr2:71572232
|
T | TGCACAGA others(9): Show |
184 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(181): Show | 184 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(181): Show |
intron_variant | MODIFIER | c.3228+1503_3228+150 others(20): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 71572232 | |||||
| chr2:71572247
|
T | C | 23 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(20): Show | 23 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show |
intron_variant | MODIFIER | c.3228+1506T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572247 | ||||||
| chr2:71572254
|
C | T | 23 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(20): Show | 23 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show |
intron_variant | MODIFIER | c.3228+1513C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572254 | ||||||
| chr2:71572255
|
C | G | 23 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(20): Show | 23 | HG01099.hp1 HG01891.hp2 HG02615.hp2 others(20): Show |
intron_variant | MODIFIER | c.3228+1514C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572255 | ||||||
| chr2:71572319
|
A | C | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3228+1578A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572319 | ||||||
| chr2:71572386
|
T | C | 14 | a0001c0004t0001g0080a0001c0004t0003g0112a0001c0004t0003g0113others(11): Show | 14 | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.3228+1645T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572386 | ||||||
| chr2:71572408
|
C | T | 1 | a0001c0003t0001g0039 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3228+1667C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572408 | ||||||
| chr2:71572456
|
T | C | 4 | a0001c0010t0001g0035a0001c0042t0001g0141a0001c0078t0001g0199others(1): Show | 4 | HG01891.hp2 HG02630.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3228+1715T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572456 | ||||||
| chr2:71572502
|
C | T | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3229-1696C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572502 | ||||||
| chr2:71572517
|
A | G | 161 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(158): Show | 161 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(158): Show |
intron_variant | MODIFIER | c.3229-1681A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572517 | ||||||
| chr2:71572525
|
C | T | 1 | a0001c0002t0001g0102 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3229-1673C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572525 | ||||||
| chr2:71572614
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3229-1584G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572614 | ||||||
| chr2:71572623
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3229-1575C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572623 | ||||||
| chr2:71572841
|
G | A | 4 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0012t0001g0208others(1): Show | 4 | HG02976.hp2 HG03225.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.3229-1357G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572841 | ||||||
| chr2:71572893
|
A | G | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3229-1305A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572893 | ||||||
| chr2:71572899
|
G | A | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3229-1299G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572899 | ||||||
| chr2:71572930
|
A | C | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3229-1268A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71572930 | ||||||
| chr2:71573035
|
G | C | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3229-1163G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573035 | ||||||
| chr2:71573061
|
G | A | 1 | a0001c0009t0001g0064 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3229-1137G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573061 | ||||||
| chr2:71573095
|
C | G | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3229-1103C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573095 | ||||||
| chr2:71573176
|
C | A | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3229-1022C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573176 | ||||||
| chr2:71573379
|
G | A | 2 | a0001c0005t0001g0074a0001c0005t0002g0177 | 2 | HG04204.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.3229-819G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573379 | ||||||
| chr2:71573430
|
A | G | 14 | a0001c0004t0001g0080a0001c0004t0003g0112a0001c0004t0003g0113others(11): Show | 14 | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.3229-768A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573430 | ||||||
| chr2:71573479
|
C | T | 5 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(2): Show | 5 | HG03471.hp1 NA18906.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.3229-719C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573479 | ||||||
| chr2:71573480
|
G | A | 14 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(11): Show | 14 | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.3229-718G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573480 | ||||||
| chr2:71573549
|
G | A | 1 | a0001c0017t0001g0101 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.3229-649G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573549 | ||||||
| chr2:71573726
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3229-472C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573726 | ||||||
| chr2:71573727
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3229-471G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573727 | ||||||
| chr2:71573883
|
C | T | 1 | a0001c0004t0003g0112 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3229-315C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573883 | ||||||
| chr2:71573892
|
G | A | 103 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(100): Show | 103 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(100): Show |
intron_variant | MODIFIER | c.3229-306G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573892 | ||||||
| chr2:71573904
|
C | T | 1 | a0001c0001t0001g0106 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3229-294C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573904 | ||||||
| chr2:71573969
|
T | C | 1 | a0001c0024t0001g0085 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3229-229T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71573969 | ||||||
| chr2:71574137
|
G | C | 50 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(47): Show | 50 | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.3229-61G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71574137 | ||||||
| chr2:71574167
|
G | A | 11 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(8): Show | 11 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.3229-31G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | chr2 | 71574167 | ||||||
| chr2:71574434
|
G | A | 34 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(31): Show | 34 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.3402+63G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71574434 | ||||||
| chr2:71574644
|
G | A | 1 | a0001c0028t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3402+273G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71574644 | ||||||
| chr2:71574718
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3402+347A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71574718 | ||||||
| chr2:71574919
|
C | T | 9 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(6): Show | 9 | HG02615.hp2 HG02717.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.3402+548C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71574919 | ||||||
| chr2:71574966
|
G | A | 1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3402+595G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71574966 | ||||||
| chr2:71575102
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3402+731G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575102 | ||||||
| chr2:71575283
|
G | C | 1 | a0001c0056t0002g0162 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.3402+912G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575283 | ||||||
| chr2:71575304
|
G | A | 1 | a0016c0036t0001g0115 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3402+933G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575304 | ||||||
| chr2:71575410
|
C | T | 158 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(155): Show | 158 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(155): Show |
intron_variant | MODIFIER | c.3402+1039C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575410 | ||||||
| chr2:71575411
|
C | G | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3402+1040C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575411 | ||||||
| chr2:71575467
|
G | A | 4 | a0001c0019t0002g0187a0001c0048t0002g0190a0001c0074t0001g0094others(1): Show | 4 | HG03471.hp1 NA18906.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.3402+1096G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575467 | ||||||
| chr2:71575495
|
C | G | 162 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(159): Show | 162 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(159): Show |
intron_variant | MODIFIER | c.3402+1124C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575495 | ||||||
| chr2:71575607
|
A | G | 207 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(204): Show |
intron_variant | MODIFIER | c.3402+1236A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575607 | ||||||
| chr2:71575645
|
G | C | 3 | a0001c0003t0001g0043a0002c0023t0001g0123a0003c0088t0006g0192 | 3 | HG01099.hp1 NA18522.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.3402+1274G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575645 | ||||||
| chr2:71575714
|
G | A | 1 | a0022c0066t0001g0075 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3402+1343G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575714 | ||||||
| chr2:71575756
|
T | C | 141 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(138): Show | 141 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(138): Show |
intron_variant | MODIFIER | c.3402+1385T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575756 | ||||||
| chr2:71575816
|
G | C | 3 | a0001c0042t0001g0141a0001c0078t0001g0199a0020c0062t0001g0045 | 3 | HG02630.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3402+1445G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575816 | ||||||
| chr2:71575821
|
G | A | 36 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(33): Show | 36 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.3402+1450G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575821 | ||||||
| chr2:71575838
|
T | TG | 54 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(51): Show | 54 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(51): Show |
intron_variant | MODIFIER | c.3402+1469dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71575838 | |||||
| chr2:71575848
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3402+1477C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575848 | ||||||
| chr2:71575902
|
C | T | 16 | a0001c0004t0001g0080a0001c0016t0001g0026a0001c0016t0001g0027others(13): Show | 16 | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.3402+1531C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575902 | ||||||
| chr2:71575999
|
C | G | 57 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(54): Show | 57 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.3402+1628C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71575999 | ||||||
| chr2:71576005
|
C | T | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3402+1634C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576005 | ||||||
| chr2:71576050
|
C | T | 101 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(98): Show | 101 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.3402+1679C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576050 | ||||||
| chr2:71576421
|
T | G | 8 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(5): Show | 8 | HG02717.hp1 HG02970.hp2 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.3402+2050T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576421 | ||||||
| chr2:71576559
|
G | A | 93 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(90): Show | 93 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.3402+2188G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576559 | ||||||
| chr2:71576640
|
C | T | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3402+2269C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576640 | ||||||
| chr2:71576687
|
G | T | 100 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(97): Show | 100 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(97): Show |
intron_variant | MODIFIER | c.3402+2316G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576687 | ||||||
| chr2:71576696
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3402+2325C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576696 | ||||||
| chr2:71576846
|
G | T | 1 | a0001c0001t0002g0179 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.3402+2475G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576846 | ||||||
| chr2:71576874
|
G | A | 2 | a0001c0067t0001g0083a0015c0083t0002g0188 | 2 | HG02723.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.3402+2503G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576874 | ||||||
| chr2:71576937
|
C | T | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3402+2566C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576937 | ||||||
| chr2:71576947
|
G | A | 2 | a0001c0002t0002g0165a0001c0017t0001g0101 | 2 | NA18952.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.3402+2576G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71576947 | ||||||
| chr2:71577268
|
A | T | 1 | a0001c0001t0001g0056 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.3402+2897A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577268 | ||||||
| chr2:71577286
|
C | T | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3402+2915C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577286 | ||||||
| chr2:71577287
|
A | G | 1 | a0001c0003t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3402+2916A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577287 | ||||||
| chr2:71577522
|
GC | G | 43 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(40): Show | 43 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.3402+3158delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71577522 | |||||
| chr2:71577524
|
C | A | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3402+3153C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577524 | ||||||
| chr2:71577528
|
C | CTA | 101 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(98): Show | 101 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.3402+3157_3402+315 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577528 | ||||||
| chr2:71577530
|
A | T | 102 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0106others(99): Show | 102 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.3402+3159A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577530 | ||||||
| chr2:71577576
|
AC | A | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3402+3207delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71577576 | |||||
| chr2:71577607
|
C | A | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.3402+3236C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577607 | ||||||
| chr2:71577666
|
G | A | 144 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(141): Show | 144 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(141): Show |
intron_variant | MODIFIER | c.3402+3295G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577666 | ||||||
| chr2:71577670
|
CCA | C | 40 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(37): Show | 40 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(37): Show |
intron_variant | MODIFIER | c.3402+3307_3402+330 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71577670 | |||||
| chr2:71577672
|
A | C | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3402+3301A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577672 | ||||||
| chr2:71577695
|
C | T | 2 | a0005c0034t0002g0153a0005c0035t0001g0122 | 2 | HG01081.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.3402+3324C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577695 | ||||||
| chr2:71577902
|
G | A | 1 | a0001c0018t0001g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.3402+3531G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71577902 | ||||||
| chr2:71578168
|
G | A | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3402+3797G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578168 | ||||||
| chr2:71578260
|
C | T | 5 | a0001c0078t0001g0199a0004c0011t0001g0081a0004c0011t0001g0103others(2): Show | 5 | HG01109.hp1 HG02630.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.3402+3889C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578260 | ||||||
| chr2:71578392
|
C | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(134): Show | 137 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(134): Show |
intron_variant | MODIFIER | c.3402+4021C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578392 | ||||||
| chr2:71578420
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3402+4049C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578420 | ||||||
| chr2:71578544
|
G | A | 2 | a0001c0015t0001g0034a0001c0015t0001g0207 | 2 | HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3402+4173G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578544 | ||||||
| chr2:71578644
|
G | A | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3402+4273G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578644 | ||||||
| chr2:71578784
|
C | T | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3402+4413C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578784 | ||||||
| chr2:71578982
|
T | C | 138 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0056others(135): Show | 138 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(135): Show |
intron_variant | MODIFIER | c.3402+4611T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71578982 | ||||||
| chr2:71579002
|
G | A | 4 | a0001c0003t0001g0013a0001c0005t0001g0070a0001c0005t0001g0143others(1): Show | 4 | HG00642.hp1 HG03017.hp2 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.3402+4631G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579002 | ||||||
| chr2:71579390
|
G | C | 1 | a0001c0002t0001g0069 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.3402+5019G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579390 | ||||||
| chr2:71579400
|
T | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3402+5029T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579400 | ||||||
| chr2:71579485
|
G | A | 1 | a0001c0005t0001g0092 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.3402+5114G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579485 | ||||||
| chr2:71579589
|
A | G | 19 | a0001c0004t0001g0080a0001c0016t0001g0026a0001c0016t0001g0027others(16): Show | 19 | HG00735.hp1 HG02055.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.3402+5218A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579589 | ||||||
| chr2:71579817
|
C | T | 10 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0002g0179others(7): Show | 10 | HG02083.hp2 HG03490.hp2 HG03654.hp1 others(7): Show |
intron_variant | MODIFIER | c.3402+5446C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579817 | ||||||
| chr2:71579966
|
G | A | 114 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0106others(111): Show | 114 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3402+5595G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71579966 | ||||||
| chr2:71580349
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3402+5978C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580349 | ||||||
| chr2:71580470
|
G | A | 50 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(47): Show | 50 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(47): Show |
intron_variant | MODIFIER | c.3402+6099G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580470 | ||||||
| chr2:71580595
|
CAA | C | 3 | a0001c0042t0001g0141a0001c0078t0001g0199a0020c0062t0001g0045 | 3 | HG02630.hp1 HG03209.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.3402+6225_3402+622 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580595 | ||||||
| chr2:71580827
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3402+6456C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580827 | ||||||
| chr2:71580880
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3402+6509C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580880 | ||||||
| chr2:71580954
|
C | G | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3402+6583C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71580954 | ||||||
| chr2:71581068
|
C | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3402+6697C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71581068 | ||||||
| chr2:71581268
|
T | G | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.3402+6897T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71581268 | ||||||
| chr2:71581369
|
C | G | 18 | a0001c0004t0001g0080a0001c0016t0001g0026a0001c0016t0001g0027others(15): Show | 18 | HG00735.hp1 HG02055.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.3402+6998C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71581369 | ||||||
| chr2:71581499
|
C | T | 3 | a0001c0079t0001g0068a0001c0086t0001g0198a0016c0036t0001g0115 | 3 | HG03017.hp1 HG04199.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.3402+7128C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71581499 | ||||||
| chr2:71581789
|
T | G | 10 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(7): Show | 10 | HG02615.hp2 HG02717.hp1 HG02970.hp2 others(7): Show |
intron_variant | MODIFIER | c.3402+7418T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71581789 | ||||||
| chr2:71582047
|
C | T | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3403-7546C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71582047 | ||||||
| chr2:71582106
|
C | CA | 29 | a0001c0003t0001g0007a0001c0003t0001g0013a0001c0003t0001g0047others(26): Show | 29 | HG00642.hp1 HG00673.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.3403-7460dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582106
|
C | CAAAAA | 23 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0108others(20): Show | 23 | HG00558.hp1 HG00558.hp2 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.3403-7464_3403-746 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582106
|
C | CAAAAAA | 10 | a0001c0001t0002g0158a0001c0001t0002g0194a0001c0002t0001g0099others(7): Show | 10 | HG00544.hp2 HG00673.hp2 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.3403-7465_3403-746 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582106
|
CA | C | 36 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0002g0167others(33): Show | 36 | HG00438.hp1 HG01099.hp2 HG01261.hp1 others(33): Show |
intron_variant | MODIFIER | c.3403-7460delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582106
|
CAA | C | 5 | a0001c0006t0003g0204a0001c0019t0002g0187a0001c0060t0001g0197others(2): Show | 5 | HG02280.hp2 HG02717.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.3403-7461_3403-746 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582106
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3403-7470_3403-746 others(15): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71582106 | |||||
| chr2:71582305
|
T | A | 1 | a0001c0047t0003g0145 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3403-7288T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71582305 | ||||||
| chr2:71582493
|
T | A | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3403-7100T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71582493 | ||||||
| chr2:71582506
|
T | C | 1 | a0001c0047t0003g0145 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3403-7087T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71582506 | ||||||
| chr2:71582756
|
A | G | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3403-6837A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71582756 | ||||||
| chr2:71583043
|
C | CA | 31 | a0001c0001t0001g0078a0001c0001t0001g0124a0001c0001t0002g0160others(28): Show | 31 | HG00140.hp2 HG00642.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.3403-6524dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71583043 | |||||
| chr2:71583043
|
C | CAA | 6 | a0001c0003t0001g0007a0001c0003t0001g0076a0001c0005t0001g0092others(3): Show | 6 | HG00438.hp2 HG01123.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.3403-6525_3403-652 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71583043 | |||||
| chr2:71583043
|
C | CAAA | 15 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0002g0179others(12): Show | 15 | HG01433.hp2 HG01934.hp1 HG02083.hp2 others(12): Show |
intron_variant | MODIFIER | c.3403-6526_3403-652 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71583043 | |||||
| chr2:71583043
|
CA | C | 55 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(52): Show | 55 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.3403-6524delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71583043 | |||||
| chr2:71583043
|
CAAAAAA | C | 8 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(5): Show | 8 | HG02109.hp1 HG02809.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3403-6529_3403-652 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71583043 | |||||
| chr2:71583491
|
C | G | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3403-6102C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71583491 | ||||||
| chr2:71583761
|
G | A | 14 | a0001c0003t0001g0013a0001c0004t0001g0025a0001c0004t0001g0030others(11): Show | 14 | HG00642.hp1 HG01884.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.3403-5832G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71583761 | ||||||
| chr2:71583925
|
A | G | 1 | a0003c0088t0006g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3403-5668A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71583925 | ||||||
| chr2:71584068
|
T | G | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.3403-5525T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584068 | ||||||
| chr2:71584075
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3403-5518C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584075 | ||||||
| chr2:71584091
|
C | T | 5 | a0001c0037t0001g0044a0003c0043t0001g0116a0003c0044t0001g0023others(2): Show | 5 | HG02055.hp2 HG02280.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.3403-5502C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584091 | ||||||
| chr2:71584169
|
AGT | A | 140 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(137): Show | 140 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(137): Show |
intron_variant | MODIFIER | c.3403-5406_3403-540 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71584169 | |||||
| chr2:71584350
|
C | T | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3403-5243C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584350 | ||||||
| chr2:71584460
|
G | T | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3403-5133G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584460 | ||||||
| chr2:71584474
|
A | G | 84 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0001t0001g0106others(81): Show | 84 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(81): Show |
intron_variant | MODIFIER | c.3403-5119A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584474 | ||||||
| chr2:71584476
|
A | G | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3403-5117A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584476 | ||||||
| chr2:71584494
|
A | G | 2 | a0001c0019t0002g0187a0029c0072t0001g0144 | 2 | HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3403-5099A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584494 | ||||||
| chr2:71584546
|
T | G | 6 | a0001c0006t0003g0204a0001c0007t0002g0189a0003c0088t0006g0192others(3): Show | 6 | HG01099.hp1 HG01109.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.3403-5047T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584546 | ||||||
| chr2:71584557
|
T | C | 12 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(9): Show | 12 | HG02615.hp2 HG02717.hp1 HG02970.hp2 others(9): Show |
intron_variant | MODIFIER | c.3403-5036T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584557 | ||||||
| chr2:71584649
|
T | C | 2 | a0001c0019t0002g0187a0029c0072t0001g0144 | 2 | HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3403-4944T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584649 | ||||||
| chr2:71584750
|
G | A | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3403-4843G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584750 | ||||||
| chr2:71584791
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0203 | 2 | HG01167.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.3403-4802C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71584791 | ||||||
| chr2:71585112
|
A | G | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3403-4481A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585112 | ||||||
| chr2:71585191
|
G | A | 2 | a0012c0055t0001g0063a0023c0058t0001g0205 | 2 | HG00140.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.3403-4402G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585191 | ||||||
| chr2:71585297
|
G | A | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3403-4296G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585297 | ||||||
| chr2:71585308
|
T | C | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3403-4285T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585308 | ||||||
| chr2:71585325
|
C | T | 151 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(148): Show | 151 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(148): Show |
intron_variant | MODIFIER | c.3403-4268C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585325 | ||||||
| chr2:71585459
|
C | T | 4 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0042t0001g0141others(1): Show | 4 | HG02630.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3403-4134C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585459 | ||||||
| chr2:71585620
|
C | A | 32 | a0001c0001t0001g0106a0001c0002t0001g0003a0001c0002t0001g0017others(29): Show | 32 | HG00438.hp1 HG00544.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.3403-3973C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585620 | ||||||
| chr2:71585620
|
C | T | 4 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0042t0001g0141others(1): Show | 4 | HG02630.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3403-3973C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585620 | ||||||
| chr2:71585621
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | HG00738.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.3403-3972G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585621 | ||||||
| chr2:71585626
|
G | A | 12 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(9): Show | 12 | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.3403-3967G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585626 | ||||||
| chr2:71585630
|
T | A | 1 | a0001c0009t0001g0053 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3403-3963T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585630 | ||||||
| chr2:71585773
|
G | A | 4 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0042t0001g0141others(1): Show | 4 | HG02630.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3403-3820G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585773 | ||||||
| chr2:71585786
|
C | T | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3403-3807C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585786 | ||||||
| chr2:71585807
|
C | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3403-3786C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585807 | ||||||
| chr2:71585889
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3403-3704C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585889 | ||||||
| chr2:71585925
|
C | T | 22 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(19): Show | 22 | HG00735.hp1 HG01167.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.3403-3668C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71585925 | ||||||
| chr2:71586006
|
G | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3403-3587G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586006 | ||||||
| chr2:71586057
|
A | G | 6 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0042t0001g0141others(3): Show | 6 | HG02630.hp1 HG02647.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.3403-3536A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586057 | ||||||
| chr2:71586057
|
A | T | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3403-3536A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586057 | ||||||
| chr2:71586292
|
G | A | 7 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(4): Show | 7 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.3403-3301G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586292 | ||||||
| chr2:71586345
|
G | C | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3403-3248G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586345 | ||||||
| chr2:71586362
|
G | T | 12 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(9): Show | 12 | HG02615.hp2 HG02717.hp1 HG02970.hp2 others(9): Show |
intron_variant | MODIFIER | c.3403-3231G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586362 | ||||||
| chr2:71586416
|
G | T | 2 | a0001c0015t0001g0034a0001c0015t0001g0207 | 2 | HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3403-3177G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586416 | ||||||
| chr2:71586517
|
C | T | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3403-3076C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586517 | ||||||
| chr2:71586771
|
C | A | 8 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(5): Show | 8 | HG02109.hp1 HG02809.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3403-2822C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586771 | ||||||
| chr2:71586796
|
G | A | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3403-2797G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586796 | ||||||
| chr2:71586819
|
G | A | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3403-2774G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586819 | ||||||
| chr2:71586994
|
G | A | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3403-2599G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71586994 | ||||||
| chr2:71587012
|
C | T | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3403-2581C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587012 | ||||||
| chr2:71587016
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3403-2577C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587016 | ||||||
| chr2:71587029
|
G | A | 4 | a0001c0040t0001g0096a0001c0050t0001g0028a0001c0085t0001g0029others(1): Show | 4 | HG02809.hp2 HG02922.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3403-2564G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587029 | ||||||
| chr2:71587053
|
C | T | 4 | a0003c0043t0001g0116a0003c0044t0001g0023a0003c0090t0001g0136others(1): Show | 4 | HG02055.hp2 HG02280.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.3403-2540C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587053 | ||||||
| chr2:71587082
|
G | C | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3403-2511G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587082 | ||||||
| chr2:71587104
|
G | T | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.3403-2489G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587104 | ||||||
| chr2:71587158
|
G | C | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3403-2435G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587158 | ||||||
| chr2:71587159
|
G | T | 18 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(15): Show | 18 | HG00140.hp1 HG01109.hp1 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.3403-2434G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587159 | ||||||
| chr2:71587291
|
C | G | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3403-2302C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587291 | ||||||
| chr2:71587313
|
C | T | 4 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0042t0001g0141others(1): Show | 4 | HG02630.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3403-2280C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587313 | ||||||
| chr2:71587531
|
G | T | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3403-2062G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587531 | ||||||
| chr2:71587630
|
C | T | 26 | a0001c0001t0001g0106a0001c0002t0001g0003a0001c0002t0001g0046others(23): Show | 26 | HG00438.hp1 HG00544.hp1 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.3403-1963C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587630 | ||||||
| chr2:71587973
|
T | G | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3403-1620T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71587973 | ||||||
| chr2:71588015
|
C | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3403-1578C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588015 | ||||||
| chr2:71588053
|
G | A | 2 | a0001c0001t0002g0183a0001c0048t0002g0190 | 2 | HG02698.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3403-1540G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588053 | ||||||
| chr2:71588163
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3403-1430C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588163 | ||||||
| chr2:71588232
|
G | A | 2 | a0001c0001t0002g0183a0001c0048t0002g0190 | 2 | HG02698.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3403-1361G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588232 | ||||||
| chr2:71588250
|
C | T | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3403-1343C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588250 | ||||||
| chr2:71588274
|
G | A | 2 | a0001c0024t0001g0054a0021c0064t0001g0058 | 2 | HG00738.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.3403-1319G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588274 | ||||||
| chr2:71588277
|
C | T | 3 | a0001c0001t0002g0183a0001c0048t0002g0190a0002c0023t0001g0123 | 3 | HG02698.hp1 NA20805.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3403-1316C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588277 | ||||||
| chr2:71588488
|
C | G | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3403-1105C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588488 | ||||||
| chr2:71588558
|
T | C | 1 | a0001c0006t0001g0121 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.3403-1035T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588558 | ||||||
| chr2:71588593
|
G | A | 1 | a0007c0027t0007g0159 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.3403-1000G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588593 | ||||||
| chr2:71588636
|
G | A | 92 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(89): Show | 92 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.3403-957G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588636 | ||||||
| chr2:71588696
|
C | T | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3403-897C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588696 | ||||||
| chr2:71588700
|
C | A | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3403-893C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588700 | ||||||
| chr2:71588767
|
A | C | 1 | a0001c0081t0001g0018 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3403-826A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588767 | ||||||
| chr2:71588887
|
G | A | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3403-706G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588887 | ||||||
| chr2:71588943
|
G | A | 2 | a0001c0016t0001g0026a0001c0016t0001g0027 | 2 | HG03098.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3403-650G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588943 | ||||||
| chr2:71588982
|
C | T | 2 | a0012c0055t0001g0063a0023c0058t0001g0205 | 2 | HG00140.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.3403-611C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71588982 | ||||||
| chr2:71589128
|
TGGTG | T | 3 | a0001c0007t0002g0148a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG03225.hp2 HG03453.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3403-460_3403-457d others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | INFO_REALIGN_3_PRIME | chr2 | 71589128 | |||||
| chr2:71589289
|
G | A | 3 | a0001c0010t0001g0035a0012c0055t0001g0063a0023c0058t0001g0205 | 3 | HG00140.hp1 HG01891.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.3403-304G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589289 | ||||||
| chr2:71589441
|
T | A | 2 | a0001c0016t0001g0026a0001c0016t0001g0027 | 2 | HG03098.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3403-152T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589441 | ||||||
| chr2:71589472
|
G | C | 132 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(129): Show | 132 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(129): Show |
intron_variant | MODIFIER | c.3403-121G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589472 | ||||||
| chr2:71589481
|
T | C | 5 | a0001c0006t0003g0204a0001c0007t0002g0189a0002c0023t0001g0123others(2): Show | 5 | HG00140.hp1 HG02647.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.3403-112T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589481 | ||||||
| chr2:71589484
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3403-109C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589484 | ||||||
| chr2:71589539
|
T | G | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3403-54T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 30/55 | chr2 | 71589539 | ||||||
| chr2:71589700
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3496+14C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589700 | ||||||
| chr2:71589752
|
G | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3496+66G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589752 | ||||||
| chr2:71589831
|
A | G | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3496+145A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589831 | ||||||
| chr2:71589847
|
G | A | 10 | a0001c0001t0001g0056a0001c0002t0001g0051a0001c0002t0001g0052others(7): Show | 10 | HG02083.hp2 HG03490.hp2 HG03654.hp1 others(7): Show |
intron_variant | MODIFIER | c.3496+161G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589847 | ||||||
| chr2:71589860
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3496+174C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589860 | ||||||
| chr2:71589873
|
A | G | 156 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(153): Show | 156 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(153): Show |
intron_variant | MODIFIER | c.3496+187A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 31/55 | chr2 | 71589873 | ||||||
| chr2:71590314
|
C | G | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3574+26C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590314 | ||||||
| chr2:71590324
|
G | C | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3574+36G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590324 | ||||||
| chr2:71590441
|
A | T | 39 | a0001c0001t0001g0106a0001c0002t0001g0003a0001c0002t0001g0017others(36): Show | 39 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(36): Show |
intron_variant | MODIFIER | c.3574+153A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590441 | ||||||
| chr2:71590481
|
A | C | 1 | a0001c0004t0001g0080 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3574+193A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590481 | ||||||
| chr2:71590570
|
C | T | 5 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(2): Show | 5 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3574+282C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590570 | ||||||
| chr2:71590623
|
G | T | 2 | a0003c0043t0001g0116a0028c0068t0001g0202 | 2 | HG02055.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3574+335G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590623 | ||||||
| chr2:71590804
|
G | A | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3574+516G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71590804 | ||||||
| chr2:71591246
|
C | T | 12 | a0001c0001t0002g0183a0001c0004t0003g0112a0001c0004t0003g0113others(9): Show | 12 | HG02109.hp1 HG02698.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.3574+958C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591246 | ||||||
| chr2:71591292
|
C | T | 1 | a0001c0019t0002g0171 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.3574+1004C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591292 | ||||||
| chr2:71591383
|
C | T | 10 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(7): Show | 10 | HG02109.hp1 HG02809.hp2 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.3574+1095C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591383 | ||||||
| chr2:71591419
|
G | C | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3574+1131G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591419 | ||||||
| chr2:71591492
|
G | A | 1 | a0001c0009t0001g0089 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3574+1204G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591492 | ||||||
| chr2:71591532
|
T | C | 5 | a0001c0019t0002g0187a0001c0037t0001g0044a0001c0067t0001g0083others(2): Show | 5 | HG01099.hp1 HG02723.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.3574+1244T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591532 | ||||||
| chr2:71591645
|
C | T | 6 | a0001c0005t0001g0062a0001c0007t0001g0139a0001c0007t0004g0020others(3): Show | 6 | HG01261.hp2 HG02615.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.3574+1357C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591645 | ||||||
| chr2:71591690
|
A | C | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(69): Show | 72 | HG00558.hp1 HG00558.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.3574+1402A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591690 | ||||||
| chr2:71591752
|
C | T | 10 | a0001c0001t0001g0056a0001c0002t0001g0051a0001c0002t0001g0052others(7): Show | 10 | HG02083.hp2 HG03490.hp2 HG03654.hp1 others(7): Show |
intron_variant | MODIFIER | c.3574+1464C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591752 | ||||||
| chr2:71591797
|
C | G | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3574+1509C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591797 | ||||||
| chr2:71591825
|
C | T | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3574+1537C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591825 | ||||||
| chr2:71591887
|
C | T | 37 | a0001c0001t0001g0106a0001c0002t0001g0003a0001c0002t0001g0017others(34): Show | 37 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(34): Show |
intron_variant | MODIFIER | c.3574+1599C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71591887 | ||||||
| chr2:71592026
|
C | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3574+1738C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592026 | ||||||
| chr2:71592027
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3574+1739G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592027 | ||||||
| chr2:71592091
|
C | T | 2 | a0002c0022t0001g0111a0002c0075t0001g0138 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3574+1803C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592091 | ||||||
| chr2:71592099
|
C | T | 4 | a0001c0001t0002g0167a0001c0003t0001g0047a0001c0003t0001g0114others(1): Show | 4 | HG02165.hp2 NA18946.hp1 NA18946.hp2 others(1): Show |
intron_variant | MODIFIER | c.3574+1811C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592099 | ||||||
| chr2:71592117
|
C | T | 5 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(2): Show | 5 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3574+1829C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592117 | ||||||
| chr2:71592149
|
G | T | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3574+1861G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592149 | ||||||
| chr2:71592154
|
G | T | 3 | a0001c0007t0002g0148a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG03225.hp2 HG03453.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3574+1866G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592154 | ||||||
| chr2:71592213
|
G | C | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3574+1925G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592213 | ||||||
| chr2:71592341
|
A | G | 59 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(56): Show | 59 | HG00558.hp1 HG00558.hp2 HG00738.hp1 others(56): Show |
intron_variant | MODIFIER | c.3574+2053A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592341 | ||||||
| chr2:71592572
|
C | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3574+2284C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592572 | ||||||
| chr2:71592597
|
CAT | C | 2 | a0001c0077t0001g0050a0001c0089t0001g0024 | 2 | HG01884.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.3574+2310_3574+231 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592597 | ||||||
| chr2:71592748
|
C | G | 1 | a0001c0003t0001g0127 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.3574+2460C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592748 | ||||||
| chr2:71592794
|
C | G | 8 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(5): Show | 8 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.3574+2506C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592794 | ||||||
| chr2:71592798
|
A | G | 1 | a0001c0010t0005g0091 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3574+2510A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592798 | ||||||
| chr2:71592803
|
G | A | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3574+2515G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592803 | ||||||
| chr2:71592872
|
A | T | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.3574+2584A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592872 | ||||||
| chr2:71592880
|
G | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3574+2592G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592880 | ||||||
| chr2:71592889
|
A | G | 4 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(1): Show | 4 | HG02257.hp1 HG02486.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.3574+2601A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71592889 | ||||||
| chr2:71593125
|
C | CT | 62 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(59): Show | 62 | HG00558.hp1 HG00558.hp2 HG00738.hp1 others(59): Show |
intron_variant | MODIFIER | c.3574+2861dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593125
|
C | CTT | 6 | a0001c0001t0001g0002a0001c0001t0001g0119a0001c0001t0001g0129others(3): Show | 6 | HG02258.hp1 HG02970.hp2 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.3574+2860_3574+286 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593125
|
CT | C | 10 | a0001c0001t0001g0106a0001c0001t0001g0203a0001c0002t0001g0046others(7): Show | 10 | HG01074.hp2 HG01109.hp1 HG01167.hp2 others(7): Show |
intron_variant | MODIFIER | c.3574+2861delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593125
|
CTT | C | 12 | a0001c0001t0002g0183a0001c0004t0003g0112a0001c0004t0003g0113others(9): Show | 12 | HG02109.hp1 HG02698.hp1 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.3574+2860_3574+286 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593125
|
CTTT | C | 12 | a0001c0007t0001g0139a0001c0026t0001g0095a0001c0026t0001g0097others(9): Show | 12 | HG00735.hp1 HG02257.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.3574+2859_3574+286 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593125
|
CTTTT | C | 8 | a0001c0006t0003g0204a0001c0007t0002g0189a0001c0007t0004g0020others(5): Show | 8 | HG00140.hp1 HG01167.hp1 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.3574+2858_3574+286 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71593125 | |||||
| chr2:71593173
|
C | T | 1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.3574+2885C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593173 | ||||||
| chr2:71593266
|
A | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(136): Show | 139 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(136): Show |
intron_variant | MODIFIER | c.3574+2978A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593266 | ||||||
| chr2:71593278
|
A | G | 2 | a0001c0006t0003g0204a0001c0007t0002g0189 | 2 | HG02647.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.3574+2990A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593278 | ||||||
| chr2:71593294
|
A | G | 159 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(156): Show | 159 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(156): Show |
intron_variant | MODIFIER | c.3574+3006A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593294 | ||||||
| chr2:71593396
|
G | C | 3 | a0001c0007t0002g0148a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG03225.hp2 HG03453.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3574+3108G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593396 | ||||||
| chr2:71593426
|
C | T | 3 | a0001c0007t0002g0148a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG03225.hp2 HG03453.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3574+3138C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593426 | ||||||
| chr2:71593463
|
G | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3574+3175G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593463 | ||||||
| chr2:71593658
|
T | C | 7 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(4): Show | 7 | HG00735.hp1 HG01167.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.3574+3370T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593658 | ||||||
| chr2:71593798
|
A | C | 3 | a0001c0007t0001g0139a0001c0053t0001g0206a0006c0063t0001g0140 | 3 | HG02717.hp1 HG02976.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3574+3510A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593798 | ||||||
| chr2:71593800
|
G | C | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.3574+3512G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71593800 | ||||||
| chr2:71594021
|
C | CA | 3 | a0001c0037t0001g0044a0003c0088t0006g0192a0009c0029t0005g0084 | 3 | HG01099.hp1 HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3574+3734dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71594021 | |||||
| chr2:71594078
|
G | T | 5 | a0001c0032t0002g0193a0001c0060t0001g0197a0004c0011t0001g0081others(2): Show | 5 | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.3574+3790G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594078 | ||||||
| chr2:71594408
|
G | A | 207 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(204): Show |
intron_variant | MODIFIER | c.3574+4120G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594408 | ||||||
| chr2:71594447
|
C | T | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3575-4117C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594447 | ||||||
| chr2:71594612
|
G | A | 1 | a0001c0001t0002g0179 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.3575-3952G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594612 | ||||||
| chr2:71594716
|
C | T | 1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.3575-3848C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594716 | ||||||
| chr2:71594717
|
A | G | 44 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(41): Show | 44 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.3575-3847A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594717 | ||||||
| chr2:71594725
|
G | A | 2 | a0001c0015t0001g0034a0001c0015t0001g0207 | 2 | HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3575-3839G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594725 | ||||||
| chr2:71594756
|
C | T | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3575-3808C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594756 | ||||||
| chr2:71594947
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3575-3617C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71594947 | ||||||
| chr2:71595029
|
C | T | 11 | a0001c0001t0002g0183a0001c0004t0001g0025a0001c0004t0001g0030others(8): Show | 11 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.3575-3535C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595029 | ||||||
| chr2:71595143
|
A | G | 1 | a0001c0001t0001g0137 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3575-3421A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595143 | ||||||
| chr2:71595275
|
G | C | 11 | a0001c0001t0002g0183a0001c0004t0001g0025a0001c0004t0001g0030others(8): Show | 11 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.3575-3289G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595275 | ||||||
| chr2:71595544
|
C | T | 2 | a0001c0010t0001g0035a0024c0045t0001g0093 | 2 | HG01891.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3575-3020C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595544 | ||||||
| chr2:71595598
|
G | C | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3575-2966G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595598 | ||||||
| chr2:71595995
|
C | T | 1 | a0001c0042t0001g0141 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3575-2569C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71595995 | ||||||
| chr2:71596002
|
C | CT | 33 | a0001c0001t0002g0167a0001c0001t0002g0183a0001c0003t0001g0006others(30): Show | 33 | HG00642.hp2 HG01109.hp2 HG01261.hp1 others(30): Show |
intron_variant | MODIFIER | c.3575-2545dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71596002 | |||||
| chr2:71596002
|
CT | C | 46 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(43): Show | 46 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.3575-2545delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | INFO_REALIGN_3_PRIME | chr2 | 71596002 | |||||
| chr2:71596026
|
T | C | 8 | a0001c0003t0001g0043a0001c0074t0001g0094a0002c0022t0001g0111others(5): Show | 8 | HG02055.hp2 HG02717.hp2 HG03209.hp1 others(5): Show |
intron_variant | MODIFIER | c.3575-2538T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596026 | ||||||
| chr2:71596038
|
C | G | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3575-2526C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596038 | ||||||
| chr2:71596066
|
T | G | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3575-2498T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596066 | ||||||
| chr2:71596267
|
G | A | 11 | a0001c0001t0002g0183a0001c0004t0001g0025a0001c0004t0001g0030others(8): Show | 11 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.3575-2297G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596267 | ||||||
| chr2:71596538
|
G | A | 2 | a0001c0002t0002g0172a0001c0014t0001g0004 | 2 | HG03704.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.3575-2026G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596538 | ||||||
| chr2:71596586
|
G | A | 39 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(36): Show | 39 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.3575-1978G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596586 | ||||||
| chr2:71596632
|
A | G | 150 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(147): Show | 150 | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(147): Show |
intron_variant | MODIFIER | c.3575-1932A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596632 | ||||||
| chr2:71596711
|
A | G | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3575-1853A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596711 | ||||||
| chr2:71596798
|
T | C | 1 | a0001c0009t0001g0089 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.3575-1766T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596798 | ||||||
| chr2:71596832
|
G | A | 4 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(1): Show | 4 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3575-1732G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71596832 | ||||||
| chr2:71597221
|
G | A | 2 | a0001c0037t0001g0044a0009c0029t0005g0084 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3575-1343G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597221 | ||||||
| chr2:71597335
|
G | A | 10 | a0001c0001t0002g0183a0001c0004t0001g0025a0001c0004t0001g0031others(7): Show | 10 | HG02109.hp1 HG02486.hp1 HG02698.hp1 others(7): Show |
intron_variant | MODIFIER | c.3575-1229G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597335 | ||||||
| chr2:71597438
|
T | G | 4 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3575-1126T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597438 | ||||||
| chr2:71597494
|
C | T | 2 | a0001c0007t0001g0139a0001c0053t0001g0206 | 2 | HG02717.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3575-1070C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597494 | ||||||
| chr2:71597521
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3575-1043C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597521 | ||||||
| chr2:71597525
|
C | G | 5 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(2): Show | 5 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3575-1039C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597525 | ||||||
| chr2:71597681
|
T | A | 1 | a0008c0091t0002g0174 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.3575-883T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597681 | ||||||
| chr2:71597913
|
GT | G | 9 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(6): Show | 9 | HG01884.hp1 HG02055.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.3575-650delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71597913 | ||||||
| chr2:71598238
|
A | G | 2 | a0001c0037t0001g0044a0009c0029t0005g0084 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3575-326A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598238 | ||||||
| chr2:71598274
|
C | T | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3575-290C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598274 | ||||||
| chr2:71598308
|
G | C | 149 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(146): Show | 149 | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(146): Show |
intron_variant | MODIFIER | c.3575-256G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598308 | ||||||
| chr2:71598448
|
C | T | 1 | a0001c0003t0002g0161 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3575-116C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598448 | ||||||
| chr2:71598494
|
G | A | 5 | a0001c0010t0001g0035a0001c0012t0001g0033a0001c0012t0001g0147others(2): Show | 5 | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.3575-70G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598494 | ||||||
| chr2:71598547
|
C | T | 11 | a0001c0001t0002g0183a0001c0004t0001g0025a0001c0004t0001g0031others(8): Show | 11 | HG02109.hp1 HG02486.hp1 HG02698.hp1 others(8): Show |
intron_variant | MODIFIER | c.3575-17C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598547 | ||||||
| chr2:71598552
|
C | T | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3575-12C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 32/55 | chr2 | 71598552 | ||||||
| chr2:71598878
|
T | C | 99 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0078others(96): Show | 99 | HG00140.hp2 HG00438.hp2 HG00642.hp2 others(96): Show |
intron_variant | MODIFIER | c.3756+133T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598878 | ||||||
| chr2:71598879
|
A | T | 68 | a0001c0001t0001g0078a0001c0001t0001g0135a0001c0001t0001g0203others(65): Show | 68 | HG00140.hp2 HG00438.hp2 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.3756+134A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598879 | ||||||
| chr2:71598917
|
G | A | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3756+172G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598917 | ||||||
| chr2:71598947
|
T | C | 44 | a0001c0001t0001g0106a0001c0001t0002g0158a0001c0002t0001g0003others(41): Show | 44 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.3756+202T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598947 | ||||||
| chr2:71598972
|
C | T | 69 | a0001c0001t0001g0078a0001c0001t0001g0135a0001c0001t0001g0203others(66): Show | 69 | HG00140.hp2 HG00438.hp2 HG00642.hp2 others(66): Show |
intron_variant | MODIFIER | c.3756+227C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598972 | ||||||
| chr2:71598973
|
G | A | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3756+228G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71598973 | ||||||
| chr2:71599018
|
G | A | 4 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(1): Show | 4 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3756+273G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599018 | ||||||
| chr2:71599112
|
C | G | 4 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(1): Show | 4 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.3756+367C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599112 | ||||||
| chr2:71599227
|
C | A | 1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3756+482C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599227 | ||||||
| chr2:71599271
|
G | A | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3756+526G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599271 | ||||||
| chr2:71599506
|
T | C | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3756+761T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599506 | ||||||
| chr2:71599555
|
C | T | 15 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0082others(12): Show | 15 | HG01167.hp1 HG01884.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.3756+810C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599555 | ||||||
| chr2:71599593
|
G | A | 1 | a0001c0009t0008g0196 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3756+848G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599593 | ||||||
| chr2:71599617
|
C | T | 1 | a0001c0015t0001g0034 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3756+872C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71599617 | ||||||
| chr2:71600006
|
G | A | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3757-696G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600006 | ||||||
| chr2:71600126
|
G | C | 3 | a0012c0055t0001g0063a0023c0058t0001g0205a0029c0072t0001g0144 | 3 | HG00140.hp1 HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.3757-576G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600126 | ||||||
| chr2:71600255
|
C | T | 36 | a0001c0001t0001g0106a0001c0001t0002g0158a0001c0002t0001g0003others(33): Show | 36 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(33): Show |
intron_variant | MODIFIER | c.3757-447C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600255 | ||||||
| chr2:71600272
|
C | T | 3 | a0001c0003t0001g0043a0002c0022t0001g0111a0002c0075t0001g0138 | 3 | HG03486.hp2 NA18522.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3757-430C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600272 | ||||||
| chr2:71600408
|
C | T | 2 | a0001c0002t0001g0017a0001c0002t0001g0048 | 2 | HG01433.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.3757-294C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600408 | ||||||
| chr2:71600425
|
C | T | 25 | a0001c0001t0001g0078a0001c0001t0001g0135a0001c0001t0001g0203others(22): Show | 25 | HG00140.hp2 HG00438.hp2 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.3757-277C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600425 | ||||||
| chr2:71600575
|
G | A | 2 | a0001c0004t0001g0080a0002c0021t0001g0042 | 2 | HG02723.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.3757-127G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600575 | ||||||
| chr2:71600690
|
C | T | 4 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(1): Show | 4 | HG01167.hp2 HG02630.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.3757-12C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 33/55 | chr2 | 71600690 | ||||||
| chr2:71601006
|
G | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3897+164G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/55 | chr2 | 71601006 | ||||||
| chr2:71601193
|
C | A | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3898-306C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/55 | chr2 | 71601193 | ||||||
| chr2:71601293
|
A | T | 192 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(189): Show | 192 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(189): Show |
intron_variant | MODIFIER | c.3898-206A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/55 | chr2 | 71601293 | ||||||
| chr2:71601447
|
G | T | 1 | a0001c0001t0002g0160 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3898-52G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 34/55 | chr2 | 71601447 | ||||||
| chr2:71601607
|
G | C | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3927+79G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71601607 | ||||||
| chr2:71601625
|
C | T | 18 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(15): Show | 18 | HG00735.hp1 HG01167.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.3927+97C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71601625 | ||||||
| chr2:71601731
|
C | T | 5 | a0001c0007t0001g0139a0001c0007t0004g0020a0001c0007t0004g0022others(2): Show | 5 | HG02615.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.3927+203C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71601731 | ||||||
| chr2:71601821
|
G | A | 1 | a0012c0055t0001g0063 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.3927+293G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71601821 | ||||||
| chr2:71601950
|
G | C | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3927+422G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71601950 | ||||||
| chr2:71602001
|
C | T | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3927+473C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602001 | ||||||
| chr2:71602002
|
G | A | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3927+474G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602002 | ||||||
| chr2:71602029
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3927+501C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602029 | ||||||
| chr2:71602387
|
C | T | 6 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129others(3): Show | 6 | HG00738.hp1 HG01071.hp2 HG01255.hp2 others(3): Show |
intron_variant | MODIFIER | c.3928-389C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602387 | ||||||
| chr2:71602406
|
T | C | 4 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3928-370T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602406 | ||||||
| chr2:71602503
|
G | A | 8 | a0001c0009t0008g0196a0001c0026t0001g0095a0001c0026t0001g0097others(5): Show | 8 | HG00735.hp1 HG01167.hp1 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.3928-273G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602503 | ||||||
| chr2:71602510
|
C | T | 1 | a0019c0049t0001g0104 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3928-266C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602510 | ||||||
| chr2:71602587
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3928-189C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602587 | ||||||
| chr2:71602691
|
G | T | 193 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(190): Show | 193 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(190): Show |
intron_variant | MODIFIER | c.3928-85G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 35/55 | chr2 | 71602691 | ||||||
| chr2:71602885
|
C | A | 1 | a0001c0007t0001g0139 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3957+80C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71602885 | ||||||
| chr2:71603273
|
G | A | 2 | a0001c0037t0001g0044a0009c0029t0005g0084 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3957+468G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603273 | ||||||
| chr2:71603276
|
C | T | 4 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3957+471C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603276 | ||||||
| chr2:71603357
|
G | A | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3957+552G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603357 | ||||||
| chr2:71603408
|
G | A | 13 | a0001c0001t0001g0049a0001c0001t0002g0183a0001c0004t0001g0025others(10): Show | 13 | HG01099.hp1 HG02109.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.3957+603G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603408 | ||||||
| chr2:71603439
|
C | T | 1 | a0001c0001t0002g0183 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3957+634C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603439 | ||||||
| chr2:71603531
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3957+726C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603531 | ||||||
| chr2:71603559
|
T | C | 178 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(175): Show | 178 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(175): Show |
intron_variant | MODIFIER | c.3957+754T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603559 | ||||||
| chr2:71603891
|
T | C | 15 | a0001c0001t0001g0049a0001c0001t0002g0183a0001c0004t0001g0025others(12): Show | 15 | HG01099.hp1 HG02109.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.3957+1086T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71603891 | ||||||
| chr2:71604126
|
G | A | 2 | a0001c0067t0001g0083a0002c0021t0002g0149 | 2 | HG02723.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3957+1321G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604126 | ||||||
| chr2:71604306
|
C | T | 9 | a0001c0001t0001g0056a0001c0002t0001g0051a0001c0002t0001g0052others(6): Show | 9 | HG02083.hp2 HG03654.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.3957+1501C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604306 | ||||||
| chr2:71604374
|
GTCT | G | 16 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(13): Show | 16 | HG00735.hp1 HG01167.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.3957+1574_3957+157 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71604374 | |||||
| chr2:71604395
|
C | T | 3 | a0004c0011t0001g0081a0004c0011t0001g0103a0004c0011t0001g0146 | 3 | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3957+1590C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604395 | ||||||
| chr2:71604440
|
C | T | 1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.3957+1635C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604440 | ||||||
| chr2:71604488
|
C | T | 1 | a0001c0040t0001g0096 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3957+1683C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604488 | ||||||
| chr2:71604620
|
G | A | 1 | a0010c0046t0001g0066 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3957+1815G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71604620 | ||||||
| chr2:71605061
|
C | T | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3957+2256C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605061 | ||||||
| chr2:71605063
|
G | C | 1 | a0001c0003t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3957+2258G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605063 | ||||||
| chr2:71605252
|
G | C | 193 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(190): Show | 193 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(190): Show |
intron_variant | MODIFIER | c.3957+2447G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605252 | ||||||
| chr2:71605271
|
C | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3957+2466C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605271 | ||||||
| chr2:71605365
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3957+2560C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605365 | ||||||
| chr2:71605374
|
A | G | 173 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(170): Show | 173 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(170): Show |
intron_variant | MODIFIER | c.3957+2569A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605374 | ||||||
| chr2:71605437
|
C | G | 104 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(101): Show | 104 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(101): Show |
intron_variant | MODIFIER | c.3957+2632C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605437 | ||||||
| chr2:71605493
|
C | T | 1 | a0001c0004t0001g0030 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3957+2688C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605493 | ||||||
| chr2:71605695
|
C | T | 2 | a0001c0037t0001g0044a0009c0029t0005g0084 | 2 | HG03471.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3957+2890C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605695 | ||||||
| chr2:71605795
|
A | G | 2 | a0001c0010t0001g0035a0015c0083t0002g0188 | 2 | HG01891.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.3957+2990A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605795 | ||||||
| chr2:71605885
|
A | G | 198 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(195): Show | 198 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(195): Show |
intron_variant | MODIFIER | c.3957+3080A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605885 | ||||||
| chr2:71605991
|
G | A | 2 | a0001c0067t0001g0083a0002c0021t0002g0149 | 2 | HG02723.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3957+3186G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71605991 | ||||||
| chr2:71606001
|
C | T | 19 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(16): Show | 19 | HG00735.hp1 HG01081.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.3957+3196C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606001 | ||||||
| chr2:71606033
|
C | T | 19 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(16): Show | 19 | HG00735.hp1 HG01081.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.3957+3228C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606033 | ||||||
| chr2:71606072
|
C | T | 1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.3957+3267C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606072 | ||||||
| chr2:71606128
|
T | A | 105 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0105others(102): Show | 105 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.3957+3323T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606128 | ||||||
| chr2:71606177
|
C | T | 1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3957+3372C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606177 | ||||||
| chr2:71606186
|
T | C | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3957+3381T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606186 | ||||||
| chr2:71606195
|
G | A | 44 | a0001c0001t0001g0106a0001c0001t0002g0158a0001c0002t0001g0003others(41): Show | 44 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.3957+3390G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606195 | ||||||
| chr2:71606299
|
A | G | 1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3957+3494A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606299 | ||||||
| chr2:71606351
|
C | T | 1 | a0003c0090t0001g0136 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3957+3546C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606351 | ||||||
| chr2:71606368
|
T | G | 1 | a0001c0001t0001g0203 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3957+3563T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606368 | ||||||
| chr2:71606405
|
A | T | 53 | a0001c0001t0001g0106a0001c0001t0002g0158a0001c0002t0001g0003others(50): Show | 53 | HG00438.hp1 HG00558.hp2 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.3957+3600A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606405 | ||||||
| chr2:71606406
|
A | C | 198 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(195): Show | 198 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(195): Show |
intron_variant | MODIFIER | c.3957+3601A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606406 | ||||||
| chr2:71606487
|
A | G | 3 | a0001c0010t0005g0091a0002c0023t0001g0123a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3957+3682A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606487 | ||||||
| chr2:71606529
|
C | T | 3 | a0001c0032t0002g0193a0001c0060t0001g0197a0003c0090t0001g0136 | 3 | HG02258.hp2 HG02280.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.3957+3724C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606529 | ||||||
| chr2:71606534
|
A | T | 1 | a0001c0073t0001g0128 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.3957+3729A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606534 | ||||||
| chr2:71606536
|
A | G | 135 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(132): Show | 135 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(132): Show |
intron_variant | MODIFIER | c.3957+3731A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606536 | ||||||
| chr2:71606565
|
G | A | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3957+3760G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606565 | ||||||
| chr2:71606649
|
G | A | 2 | a0001c0005t0001g0070a0001c0005t0001g0143 | 2 | HG03017.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3957+3844G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606649 | ||||||
| chr2:71606751
|
C | G | 1 | a0006c0076t0004g0019 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3957+3946C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606751 | ||||||
| chr2:71606904
|
G | T | 1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.3957+4099G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606904 | ||||||
| chr2:71606923
|
C | A | 7 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.3957+4118C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606923 | ||||||
| chr2:71606993
|
G | A | 88 | a0001c0001t0001g0106a0001c0001t0001g0135a0001c0001t0001g0203others(85): Show | 88 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.3957+4188G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71606993 | ||||||
| chr2:71607087
|
A | C | 4 | a0001c0002t0001g0073a0001c0017t0001g0101a0001c0017t0001g0133others(1): Show | 4 | HG00544.hp1 NA18963.hp1 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.3958-4158A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607087 | ||||||
| chr2:71607272
|
A | C | 6 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(3): Show | 6 | HG01109.hp1 HG02257.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.3958-3973A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607272 | ||||||
| chr2:71607284
|
G | A | 87 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(84): Show | 87 | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(84): Show |
intron_variant | MODIFIER | c.3958-3961G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607284 | ||||||
| chr2:71607315
|
C | T | 1 | a0001c0001t0001g0137 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3958-3930C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607315 | ||||||
| chr2:71607546
|
A | C | 160 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(157): Show | 160 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(157): Show |
intron_variant | MODIFIER | c.3958-3699A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607546 | ||||||
| chr2:71607549
|
G | T | 3 | a0001c0007t0001g0139a0001c0037t0001g0044a0025c0033t0002g0152 | 3 | HG01884.hp1 HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.3958-3696G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607549 | ||||||
| chr2:71607588
|
G | A | 8 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(5): Show | 8 | HG00735.hp1 HG02486.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.3958-3657G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607588 | ||||||
| chr2:71607654
|
C | T | 1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3958-3591C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607654 | ||||||
| chr2:71607765
|
G | T | 25 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(22): Show | 25 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(22): Show |
intron_variant | MODIFIER | c.3958-3480G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607765 | ||||||
| chr2:71607880
|
G | A | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3958-3365G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607880 | ||||||
| chr2:71607889
|
T | C | 6 | a0001c0002t0001g0073a0001c0017t0001g0101a0001c0017t0001g0133others(3): Show | 6 | HG00544.hp1 HG03017.hp1 HG04199.hp1 others(3): Show |
intron_variant | MODIFIER | c.3958-3356T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71607889 | ||||||
| chr2:71608062
|
G | T | 1 | a0001c0024t0001g0054 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.3958-3183G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608062 | ||||||
| chr2:71608098
|
G | A | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3958-3147G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608098 | ||||||
| chr2:71608263
|
C | T | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3958-2982C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608263 | ||||||
| chr2:71608265
|
C | T | 83 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(80): Show | 83 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.3958-2980C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608265 | ||||||
| chr2:71608269
|
T | TG | 64 | a0001c0002t0001g0073a0001c0004t0001g0025a0001c0004t0001g0030others(61): Show | 64 | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.3958-2974dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71608269 | |||||
| chr2:71608363
|
G | C | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3958-2882G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608363 | ||||||
| chr2:71608465
|
C | T | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3958-2780C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608465 | ||||||
| chr2:71608516
|
T | G | 23 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(20): Show | 23 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.3958-2729T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608516 | ||||||
| chr2:71608555
|
G | A | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0003c0065t0001g0110 | 3 | HG02976.hp2 HG03225.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.3958-2690G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608555 | ||||||
| chr2:71608658
|
C | T | 61 | a0001c0002t0001g0073a0001c0004t0001g0025a0001c0004t0001g0030others(58): Show | 61 | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.3958-2587C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608658 | ||||||
| chr2:71608685
|
G | A | 15 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0007t0004g0020others(12): Show | 15 | HG01109.hp1 HG01261.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.3958-2560G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608685 | ||||||
| chr2:71608726
|
C | T | 63 | a0001c0002t0001g0073a0001c0004t0001g0025a0001c0004t0001g0030others(60): Show | 63 | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.3958-2519C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608726 | ||||||
| chr2:71608748
|
G | GGAGA | 65 | a0001c0002t0001g0073a0001c0004t0001g0025a0001c0004t0001g0030others(62): Show | 65 | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(62): Show |
intron_variant | MODIFIER | c.3958-2495_3958-249 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71608748 | |||||
| chr2:71608817
|
C | T | 1 | a0001c0009t0001g0064 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3958-2428C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608817 | ||||||
| chr2:71608934
|
G | GT | 6 | a0001c0002t0001g0048a0001c0002t0002g0166a0001c0005t0001g0062others(3): Show | 6 | HG00438.hp1 HG01261.hp2 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.3958-2300dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71608934 | |||||
| chr2:71608934
|
GT | G | 63 | a0001c0002t0001g0073a0001c0004t0001g0025a0001c0004t0001g0030others(60): Show | 63 | HG00140.hp1 HG00544.hp1 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.3958-2300delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71608934 | |||||
| chr2:71608996
|
A | AC | 155 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(152): Show | 155 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.3958-2249_3958-224 others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71608996 | ||||||
| chr2:71609047
|
C | T | 84 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(81): Show | 84 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.3958-2198C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609047 | ||||||
| chr2:71609123
|
C | T | 2 | a0001c0078t0001g0199a0028c0068t0001g0202 | 2 | HG02280.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3958-2122C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609123 | ||||||
| chr2:71609395
|
T | C | 150 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(147): Show | 150 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.3958-1850T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609395 | ||||||
| chr2:71609465
|
C | T | 1 | a0002c0070t0001g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3958-1780C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609465 | ||||||
| chr2:71609470
|
AC | A | 23 | a0001c0004t0001g0030a0001c0004t0001g0080a0001c0007t0002g0148others(20): Show | 23 | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.3958-1774delC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609470 | ||||||
| chr2:71609476
|
G | A | 3 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0074t0001g0094 | 3 | HG02615.hp2 HG03041.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.3958-1769G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609476 | ||||||
| chr2:71609599
|
A | G | 4 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(1): Show | 4 | HG01167.hp2 HG02630.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.3958-1646A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609599 | ||||||
| chr2:71609623
|
G | T | 3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.3958-1622G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609623 | ||||||
| chr2:71609636
|
T | C | 62 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(59): Show | 62 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(59): Show |
intron_variant | MODIFIER | c.3958-1609T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609636 | ||||||
| chr2:71609643
|
C | T | 39 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(36): Show | 39 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(36): Show |
intron_variant | MODIFIER | c.3958-1602C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609643 | ||||||
| chr2:71609649
|
G | T | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3958-1596G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609649 | ||||||
| chr2:71609651
|
C | T | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3958-1594C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609651 | ||||||
| chr2:71609652
|
G | A | 2 | a0001c0084t0001g0038a0003c0090t0001g0136 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.3958-1593G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609652 | ||||||
| chr2:71609658
|
G | T | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3958-1587G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609658 | ||||||
| chr2:71609696
|
G | A | 17 | a0001c0004t0001g0030a0001c0004t0001g0080a0001c0007t0002g0148others(14): Show | 17 | HG01109.hp1 HG01884.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.3958-1549G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609696 | ||||||
| chr2:71609762
|
T | C | 151 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(148): Show | 151 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(148): Show |
intron_variant | MODIFIER | c.3958-1483T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609762 | ||||||
| chr2:71609822
|
T | C | 62 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(59): Show | 62 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(59): Show |
intron_variant | MODIFIER | c.3958-1423T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71609822 | ||||||
| chr2:71610007
|
G | T | 56 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(53): Show | 56 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(53): Show |
intron_variant | MODIFIER | c.3958-1238G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610007 | ||||||
| chr2:71610128
|
A | G | 63 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(60): Show | 63 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(60): Show |
intron_variant | MODIFIER | c.3958-1117A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610128 | ||||||
| chr2:71610213
|
T | C | 63 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(60): Show | 63 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(60): Show |
intron_variant | MODIFIER | c.3958-1032T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610213 | ||||||
| chr2:71610224
|
T | C | 155 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(152): Show | 155 | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(152): Show |
intron_variant | MODIFIER | c.3958-1021T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610224 | ||||||
| chr2:71610283
|
G | T | 63 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(60): Show | 63 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(60): Show |
intron_variant | MODIFIER | c.3958-962G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610283 | ||||||
| chr2:71610284
|
G | T | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3958-961G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610284 | ||||||
| chr2:71610453
|
GGTGGTTA others(64): Show |
G | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.3958-791_3958-721d others(73): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610453 | ||||||
| chr2:71610649
|
C | A | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.3958-596C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610649 | ||||||
| chr2:71610671
|
T | TCTC | 62 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(59): Show | 62 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(59): Show |
intron_variant | MODIFIER | c.3958-573_3958-571d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 71610671 | |||||
| chr2:71610687
|
A | G | 1 | a0001c0001t0002g0160 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3958-558A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610687 | ||||||
| chr2:71610719
|
C | T | 62 | a0001c0004t0001g0025a0001c0004t0001g0030a0001c0004t0001g0031others(59): Show | 62 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(59): Show |
intron_variant | MODIFIER | c.3958-526C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610719 | ||||||
| chr2:71610720
|
G | A | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3958-525G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610720 | ||||||
| chr2:71610782
|
T | C | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3958-463T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610782 | ||||||
| chr2:71610942
|
C | T | 1 | a0001c0003t0001g0114 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.3958-303C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71610942 | ||||||
| chr2:71611025
|
G | T | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3958-220G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71611025 | ||||||
| chr2:71611166
|
C | T | 23 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(20): Show | 23 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(20): Show |
intron_variant | MODIFIER | c.3958-79C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71611166 | ||||||
| chr2:71611200
|
T | A | 5 | a0001c0053t0001g0206a0001c0078t0001g0199a0015c0083t0002g0188others(2): Show | 5 | HG02922.hp2 HG02976.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.3958-45T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71611200 | ||||||
| chr2:71611215
|
T | C | 1 | a0012c0055t0001g0063 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.3958-30T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 36/55 | chr2 | 71611215 | ||||||
| chr2:71611369
|
TG | T | 19 | a0001c0004t0001g0030a0001c0004t0001g0080a0001c0007t0002g0148others(16): Show | 19 | HG01109.hp1 HG01884.hp1 HG02257.hp1 others(16): Show |
intron_variant | MODIFIER | c.4059+28delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 37/55 | INFO_REALIGN_3_PRIME | chr2 | 71611369 | |||||
| chr2:71611425
|
C | T | 5 | a0001c0002t0002g0155a0001c0002t0002g0163a0001c0002t0002g0165others(2): Show | 5 | HG00438.hp1 HG03704.hp2 NA18612.hp1 others(2): Show |
intron_variant | MODIFIER | c.4060-40C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 37/55 | chr2 | 71611425 | ||||||
| chr2:71611722
|
C | T | 40 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(37): Show | 40 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(37): Show |
intron_variant | MODIFIER | c.4221+96C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71611722 | ||||||
| chr2:71611745
|
A | G | 34 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(31): Show | 34 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(31): Show |
intron_variant | MODIFIER | c.4221+119A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71611745 | ||||||
| chr2:71611924
|
C | T | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4221+298C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71611924 | ||||||
| chr2:71611929
|
T | C | 4 | a0001c0053t0001g0206a0015c0083t0002g0188a0018c0041t0001g0118others(1): Show | 4 | HG02922.hp2 HG02976.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.4221+303T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71611929 | ||||||
| chr2:71612078
|
G | C | 36 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(33): Show | 36 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.4221+452G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612078 | ||||||
| chr2:71612147
|
G | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4222-494G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612147 | ||||||
| chr2:71612174
|
C | T | 1 | a0005c0035t0001g0122 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.4222-467C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612174 | ||||||
| chr2:71612256
|
G | T | 3 | a0001c0002t0002g0173a0001c0005t0002g0177a0001c0081t0001g0018 | 3 | HG01071.hp1 HG04204.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.4222-385G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612256 | ||||||
| chr2:71612382
|
G | A | 1 | a0001c0018t0001g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4222-259G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612382 | ||||||
| chr2:71612621
|
G | A | 3 | a0001c0086t0001g0198a0016c0036t0001g0115a0030c0069t0001g0200 | 3 | HG01891.hp1 HG03017.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4222-20G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 38/55 | chr2 | 71612621 | ||||||
| chr2:71612982
|
G | C | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4387+176G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/55 | chr2 | 71612982 | ||||||
| chr2:71613015
|
C | T | 3 | a0001c0010t0005g0091a0002c0023t0001g0123a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4387+209C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/55 | chr2 | 71613015 | ||||||
| chr2:71613088
|
C | T | 64 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0004t0001g0025others(61): Show | 64 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(61): Show |
intron_variant | MODIFIER | c.4388-246C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/55 | chr2 | 71613088 | ||||||
| chr2:71613246
|
T | G | 1 | a0018c0041t0001g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4388-88T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/55 | chr2 | 71613246 | ||||||
| chr2:71613268
|
G | C | 1 | a0001c0001t0001g0129 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4388-66G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 39/55 | chr2 | 71613268 | ||||||
| chr2:71614045
|
C | A | 51 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0004t0001g0025others(48): Show | 51 | HG00140.hp1 HG00735.hp1 HG01099.hp1 others(48): Show |
intron_variant | MODIFIER | c.4464+635C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614045 | ||||||
| chr2:71614074
|
G | C | 2 | a0001c0017t0001g0101a0001c0017t0001g0133 | 2 | NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4464+664G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614074 | ||||||
| chr2:71614171
|
A | T | 8 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(5): Show | 8 | HG01109.hp1 HG02257.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.4464+761A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614171 | ||||||
| chr2:71614228
|
G | A | 2 | a0001c0074t0001g0094a0002c0022t0001g0201 | 2 | HG03139.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4464+818G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614228 | ||||||
| chr2:71614617
|
C | T | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4464+1207C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614617 | ||||||
| chr2:71614640
|
A | G | 2 | a0001c0008t0001g0109a0001c0008t0002g0157 | 2 | NA18979.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.4464+1230A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614640 | ||||||
| chr2:71614705
|
G | C | 89 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(86): Show | 89 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(86): Show |
intron_variant | MODIFIER | c.4464+1295G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614705 | ||||||
| chr2:71614717
|
G | A | 7 | a0001c0004t0001g0080a0001c0007t0002g0189a0001c0012t0001g0208others(4): Show | 7 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.4464+1307G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614717 | ||||||
| chr2:71614911
|
T | C | 1 | a0001c0061t0002g0001 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.4464+1501T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71614911 | ||||||
| chr2:71615044
|
C | T | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4464+1634C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615044 | ||||||
| chr2:71615072
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4464+1662G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615072 | ||||||
| chr2:71615371
|
G | C | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4464+1961G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615371 | ||||||
| chr2:71615406
|
G | T | 31 | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(28): Show | 31 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.4464+1996G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615406 | ||||||
| chr2:71615471
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.4464+2061C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615471 | ||||||
| chr2:71615528
|
C | T | 2 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4464+2118C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615528 | ||||||
| chr2:71615534
|
AAG | A | 3 | a0001c0001t0001g0108a0001c0001t0002g0184a0001c0006t0001g0072 | 3 | NA18971.hp1 NA18971.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.4464+2125_4464+212 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615534 | ||||||
| chr2:71615696
|
C | T | 71 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0002t0001g0046others(68): Show | 71 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(68): Show |
intron_variant | MODIFIER | c.4464+2286C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615696 | ||||||
| chr2:71615743
|
T | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4464+2333T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615743 | ||||||
| chr2:71615744
|
C | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4464+2334C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615744 | ||||||
| chr2:71615806
|
C | T | 1 | a0016c0036t0001g0115 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4464+2396C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615806 | ||||||
| chr2:71615824
|
C | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4464+2414C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615824 | ||||||
| chr2:71615933
|
G | C | 3 | a0006c0076t0004g0019a0012c0055t0001g0063a0029c0072t0001g0144 | 3 | HG00140.hp1 HG03471.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4464+2523G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71615933 | ||||||
| chr2:71616106
|
C | T | 7 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(4): Show | 7 | HG01109.hp1 HG02257.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.4464+2696C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616106 | ||||||
| chr2:71616107
|
C | T | 3 | a0001c0010t0001g0035a0001c0084t0001g0038a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02257.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4464+2697C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616107 | ||||||
| chr2:71616251
|
C | T | 4 | a0001c0010t0005g0091a0001c0078t0001g0199a0002c0023t0001g0123others(1): Show | 4 | HG02818.hp1 HG03130.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.4464+2841C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616251 | ||||||
| chr2:71616282
|
C | T | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4464+2872C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616282 | ||||||
| chr2:71616446
|
G | T | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4464+3036G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616446 | ||||||
| chr2:71616454
|
G | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4464+3044G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616454 | ||||||
| chr2:71616486
|
T | TG | 12 | a0001c0001t0002g0160a0001c0004t0001g0025a0001c0004t0001g0031others(9): Show | 12 | HG00642.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.4464+3081dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71616486 | |||||
| chr2:71616492
|
T | G | 191 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(188): Show | 191 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.4464+3082T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616492 | ||||||
| chr2:71616674
|
G | A | 34 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0002t0001g0046others(31): Show | 34 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.4464+3264G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616674 | ||||||
| chr2:71616760
|
C | T | 13 | a0001c0007t0001g0139a0001c0010t0001g0035a0001c0010t0005g0091others(10): Show | 13 | HG01891.hp2 HG02280.hp1 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.4464+3350C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616760 | ||||||
| chr2:71616770
|
T | A | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4464+3360T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616770 | ||||||
| chr2:71616776
|
C | T | 1 | a0012c0055t0001g0063 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4464+3366C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616776 | ||||||
| chr2:71616853
|
T | C | 4 | a0001c0053t0001g0206a0015c0083t0002g0188a0018c0041t0001g0118others(1): Show | 4 | HG02922.hp2 HG02976.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.4464+3443T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616853 | ||||||
| chr2:71616854
|
G | A | 1 | a0001c0028t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4464+3444G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71616854 | ||||||
| chr2:71617039
|
C | T | 1 | a0001c0001t0002g0158 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.4465-3508C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617039 | ||||||
| chr2:71617066
|
A | G | 2 | a0001c0017t0001g0101a0001c0017t0001g0133 | 2 | NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4465-3481A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617066 | ||||||
| chr2:71617104
|
C | A | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4465-3443C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617104 | ||||||
| chr2:71617134
|
C | T | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4465-3413C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617134 | ||||||
| chr2:71617254
|
C | T | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4465-3293C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617254 | ||||||
| chr2:71617414
|
C | T | 2 | a0001c0017t0001g0101a0001c0017t0001g0133 | 2 | NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4465-3133C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617414 | ||||||
| chr2:71617508
|
G | A | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4465-3039G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617508 | ||||||
| chr2:71617510
|
C | A | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4465-3037C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617510 | ||||||
| chr2:71617514
|
G | C | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4465-3033G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617514 | ||||||
| chr2:71617628
|
ATGTGTGT others(13): Show |
A | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4465-2900_4465-288 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617628 | |||||
| chr2:71617630
|
G | A | 31 | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(28): Show | 31 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.4465-2917G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617630 | ||||||
| chr2:71617650
|
G | A | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4465-2897G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617650 | ||||||
| chr2:71617671
|
TGTGTGTG others(19): Show |
T | 2 | a0001c0005t0001g0070a0001c0005t0001g0143 | 2 | HG03017.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.4465-2850_4465-282 others(30): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617671 | |||||
| chr2:71617697
|
C | CGTGTGTG others(107): Show |
2 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4465-2829_4465-271 others(118): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617697 | |||||
| chr2:71617734
|
T | TGGTGTGT others(1303): Show |
1 | a0006c0063t0001g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4465-2777_4465-277 others(1314): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617734 | |||||
| chr2:71617751
|
GGGTAGAG others(11): Show |
G | 17 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0003t0001g0043others(14): Show | 17 | HG00140.hp1 HG01167.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.4465-2776_4465-275 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617751 | |||||
| chr2:71617761
|
G | GGTGTGTG others(13): Show |
1 | a0001c0002t0001g0040 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.4465-2766_4465-274 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617761 | |||||
| chr2:71617767
|
T | C | 3 | a0001c0007t0001g0139a0001c0037t0001g0044a0003c0044t0001g0023 | 3 | HG02717.hp1 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4465-2780T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617767 | ||||||
| chr2:71617806
|
ATG | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2730_4465-272 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617806 | |||||
| chr2:71617809
|
T | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2738T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617809 | ||||||
| chr2:71617825
|
G | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2722G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617825 | ||||||
| chr2:71617832
|
A | G | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2715A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617832 | ||||||
| chr2:71617833
|
TAA | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2713_4465-271 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617833 | ||||||
| chr2:71617851
|
A | G | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-2696A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617851 | ||||||
| chr2:71617878
|
G | GGGTGTGT others(10): Show |
5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4465-2659_4465-265 others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617878 | |||||
| chr2:71617879
|
G | GGT | 3 | a0001c0007t0001g0139a0001c0037t0001g0044a0002c0021t0002g0149 | 3 | HG02717.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4465-2660_4465-265 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(12): Show |
55 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0001t0003g0059others(52): Show | 55 | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(52): Show |
intron_variant | MODIFIER | c.4465-2659_4465-265 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(17): Show |
2 | a0001c0002t0001g0099a0001c0002t0002g0182 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.4465-2659_4465-265 others(28): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(144): Show |
1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-2659_4465-265 others(155): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(305): Show |
2 | a0001c0008t0001g0126a0001c0018t0001g0088 | 2 | HG02486.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.4465-2659_4465-265 others(316): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(145): Show |
69 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(66): Show | 69 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(66): Show |
intron_variant | MODIFIER | c.4465-2659_4465-265 others(156): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617879
|
G | GGTGTGTG others(145): Show |
1 | a0005c0034t0002g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4465-2659_4465-265 others(156): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617879 | |||||
| chr2:71617901
|
T | G | 8 | a0001c0002t0001g0040a0001c0002t0001g0069a0001c0002t0001g0099others(5): Show | 8 | HG00544.hp2 HG00673.hp2 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.4465-2646T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617901 | ||||||
| chr2:71617913
|
T | TGTGTTTG others(8): Show |
3 | a0001c0007t0001g0139a0001c0037t0001g0044a0002c0021t0002g0149 | 3 | HG02717.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4465-2630_4465-262 others(19): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71617913 | |||||
| chr2:71617974
|
T | G | 2 | a0001c0002t0001g0099a0001c0002t0002g0182 | 2 | HG00544.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.4465-2573T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71617974 | ||||||
| chr2:71618017
|
G | T | 1 | a0001c0001t0001g0137 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4465-2530G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618017 | ||||||
| chr2:71618039
|
G | GGT | 12 | a0001c0005t0001g0070a0001c0026t0001g0095a0001c0026t0001g0097others(9): Show | 12 | HG00735.hp1 HG02055.hp2 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.4465-2490_4465-248 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618039 | |||||
| chr2:71618039
|
GGT | G | 96 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(93): Show | 96 | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.4465-2490_4465-248 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618039 | |||||
| chr2:71618047
|
T | TGTGTGTG others(13): Show |
6 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0005t0001g0087others(3): Show | 6 | HG01167.hp2 HG01884.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.4465-2491_4465-249 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618047 | |||||
| chr2:71618069
|
G | GGT | 10 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(7): Show | 10 | HG00438.hp2 HG01934.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.4465-2468_4465-246 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618069 | |||||
| chr2:71618071
|
T | TGTGTGTG others(105): Show |
2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(116): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618071 | |||||
| chr2:71618071
|
T | TGTGTGTG others(107): Show |
63 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(60): Show | 63 | HG00140.hp2 HG00558.hp1 HG00642.hp2 others(60): Show |
intron_variant | MODIFIER | c.4465-2467_4465-246 others(118): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618071 | |||||
| chr2:71618087
|
A | G | 16 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0001t0003g0059others(13): Show | 16 | HG01167.hp2 HG01261.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.4465-2460A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618087 | ||||||
| chr2:71618091
|
G | GGT | 65 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(62): Show | 65 | HG00140.hp2 HG00558.hp1 HG00642.hp2 others(62): Show |
intron_variant | MODIFIER | c.4465-2446_4465-244 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(85): Show |
16 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0001t0003g0059others(13): Show | 16 | HG01167.hp2 HG01261.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.4465-2435_4465-243 others(96): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(105): Show |
1 | a0001c0004t0003g0134 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4465-2402_4465-240 others(116): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(107): Show |
7 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0085t0001g0029others(4): Show | 7 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.4465-2402_4465-240 others(118): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(105): Show |
2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(116): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(107): Show |
53 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(50): Show | 53 | HG00140.hp1 HG00438.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(118): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(109): Show |
1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4465-2381_4465-238 others(120): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(1299): Show |
1 | a0001c0004t0001g0032 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4465-2381_4465-238 others(1310): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618091
|
G | GGTGTGTG others(1301): Show |
2 | a0001c0004t0001g0031a0001c0010t0001g0142 | 2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(1312): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618091 | |||||
| chr2:71618151
|
G | GGTGTGTG others(109): Show |
8 | a0001c0001t0002g0183a0001c0010t0001g0035a0001c0031t0001g0120others(5): Show | 8 | HG00738.hp2 HG01891.hp2 HG01981.hp1 others(5): Show |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(120): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618151
|
G | GGTGTGTG others(233): Show |
33 | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(30): Show | 33 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(30): Show |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(244): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618151
|
G | GGTGTGTG others(355): Show |
2 | a0001c0002t0001g0040a0001c0002t0001g0069 | 2 | HG01934.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(366): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618151
|
G | GGTGTGTG others(357): Show |
1 | a0001c0002t0002g0181 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.4465-2381_4465-238 others(368): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618151
|
GGT | G | 8 | a0001c0001t0003g0059a0001c0004t0001g0080a0001c0007t0002g0189others(5): Show | 8 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.4465-2378_4465-237 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618151
|
GGTGT | G | 3 | a0001c0001t0001g0130a0001c0017t0001g0101a0001c0017t0001g0133 | 3 | NA18948.hp1 NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4465-2380_4465-237 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618151 | |||||
| chr2:71618153
|
T | TGTGTGTG others(105): Show |
10 | a0001c0010t0005g0091a0001c0012t0001g0033a0001c0012t0001g0147others(7): Show | 10 | HG02257.hp2 HG02717.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.4465-2381_4465-238 others(116): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618153 | |||||
| chr2:71618153
|
T | TGTGTGTG others(227): Show |
1 | a0001c0014t0002g0175 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4465-2381_4465-238 others(238): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618153 | |||||
| chr2:71618208
|
A | G | 191 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(188): Show | 191 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(188): Show |
intron_variant | MODIFIER | c.4465-2339A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618208 | ||||||
| chr2:71618221
|
G | A | 1 | a0001c0013t0001g0057 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4465-2326G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618221 | ||||||
| chr2:71618235
|
T | TGTGTGTG others(105): Show |
2 | a0001c0017t0001g0101a0001c0017t0001g0133 | 2 | NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4465-2278_4465-227 others(116): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618235 | |||||
| chr2:71618253
|
C | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2294C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618253 | ||||||
| chr2:71618254
|
G | A | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.4465-2293G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618254 | ||||||
| chr2:71618254
|
G | GTGTGTGG others(109): Show |
1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-2278_4465-227 others(120): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618254 | |||||
| chr2:71618259
|
T | TGTGTTTG others(5): Show |
1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2287_4465-228 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618259 | |||||
| chr2:71618264
|
G | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2283G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618264 | ||||||
| chr2:71618266
|
GGT | G | 9 | a0001c0003t0001g0043a0001c0009t0008g0196a0001c0010t0001g0035others(6): Show | 9 | HG00140.hp1 HG01167.hp1 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.4465-2269_4465-226 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618266 | |||||
| chr2:71618267
|
G | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2280G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618267 | ||||||
| chr2:71618284
|
A | AGGTGTGT others(417): Show |
1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2251_4465-225 others(428): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618284 | |||||
| chr2:71618305
|
GGT | G | 13 | a0001c0004t0001g0030a0001c0007t0001g0139a0001c0007t0002g0148others(10): Show | 13 | HG01109.hp1 HG02257.hp1 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.4465-2228_4465-222 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618305 | |||||
| chr2:71618327
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2220A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618327 | ||||||
| chr2:71618348
|
G | GGTGGCAT others(20): Show |
1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4465-2198_4465-219 others(31): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618348 | |||||
| chr2:71618349
|
G | GTGGCATG others(240): Show |
4 | a0001c0007t0001g0139a0001c0037t0001g0044a0009c0029t0005g0084others(1): Show | 4 | HG02717.hp1 HG02965.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.4465-2198_4465-219 others(251): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618349 | ||||||
| chr2:71618349
|
G | GTGGCATG others(237): Show |
36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(33): Show |
intron_variant | MODIFIER | c.4465-2198_4465-219 others(248): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618349 | ||||||
| chr2:71618350
|
G | T | 1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4465-2197G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618350 | ||||||
| chr2:71618352
|
T | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2195T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618352 | ||||||
| chr2:71618370
|
G | GGGGGTGT others(193): Show |
1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2176_4465-217 others(204): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618370 | |||||
| chr2:71618372
|
C | T | 41 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(38): Show | 41 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(38): Show |
intron_variant | MODIFIER | c.4465-2175C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618372 | ||||||
| chr2:71618373
|
A | ATGTGTGG others(1283): Show |
5 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0031t0001g0120others(2): Show | 5 | HG01433.hp2 HG01981.hp1 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.4465-2134_4465-213 others(1294): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1265): Show |
1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4465-2134_4465-213 others(1276): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1283): Show |
1 | a0001c0002t0001g0051 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.4465-2134_4465-213 others(1294): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1285): Show |
8 | a0001c0002t0001g0052a0001c0002t0002g0164a0001c0002t0002g0166others(5): Show | 8 | HG02074.hp2 HG03490.hp1 HG03654.hp1 others(5): Show |
intron_variant | MODIFIER | c.4465-2134_4465-213 others(1296): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1298): Show |
1 | a0001c0020t0001g0132 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.4465-2134_4465-213 others(1309): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(2452): Show |
1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(2463): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1287): Show |
3 | a0001c0001t0002g0183a0001c0048t0002g0190a0021c0064t0001g0058 | 3 | HG00738.hp2 HG02698.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1298): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1287): Show |
2 | a0001c0077t0001g0050a0001c0089t0001g0024 | 2 | HG01884.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1298): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1286): Show |
1 | a0006c0063t0001g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1297): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1268): Show |
2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1279): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1305): Show |
3 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032 | 3 | HG02486.hp1 HG02922.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1316): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1307): Show |
1 | a0001c0010t0001g0142 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1318): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1277): Show |
3 | a0001c0086t0001g0198a0016c0036t0001g0115a0030c0069t0001g0200 | 3 | HG01891.hp1 HG03017.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1288): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1292): Show |
4 | a0006c0076t0004g0019a0012c0055t0001g0063a0020c0062t0001g0045others(1): Show | 4 | HG00140.hp1 HG02630.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1303): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1289): Show |
1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1300): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1289): Show |
1 | a0001c0009t0008g0196 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1300): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1292): Show |
2 | a0001c0017t0001g0101a0001c0017t0001g0133 | 2 | NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1303): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1303): Show |
1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1314): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1275): Show |
1 | a0001c0053t0001g0206 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1286): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1299): Show |
1 | a0015c0083t0002g0188 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1310): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1256): Show |
1 | a0024c0045t0001g0093 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1267): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1258): Show |
1 | a0018c0041t0001g0118 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1269): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1276): Show |
1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1287): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1038): Show |
3 | a0001c0002t0001g0099a0001c0002t0001g0102a0001c0002t0002g0182 | 3 | HG00544.hp2 HG00558.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.4465-2159_4465-215 others(1049): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1040): Show |
1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1051): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1020): Show |
1 | a0001c0005t0001g0074 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1031): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1043): Show |
1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1054): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1042): Show |
26 | a0001c0002t0001g0046a0001c0002t0001g0067a0001c0002t0001g0073others(23): Show | 26 | HG00438.hp1 HG00544.hp1 HG00642.hp1 others(23): Show |
intron_variant | MODIFIER | c.4465-2159_4465-215 others(1053): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1044): Show |
1 | a0001c0002t0002g0180 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1055): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1040): Show |
1 | a0001c0002t0001g0069 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1051): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1042): Show |
2 | a0001c0002t0001g0040a0001c0002t0002g0181 | 2 | HG01934.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.4465-2159_4465-215 others(1053): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1046): Show |
1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1057): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1046): Show |
1 | a0031c0071t0005g0077 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1057): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1012): Show |
1 | a0001c0007t0001g0139 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1023): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | ATGTGTGG others(1014): Show |
1 | a0001c0037t0001g0044 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.4465-2159_4465-215 others(1025): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618373 | |||||
| chr2:71618373
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4465-2174A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618373 | ||||||
| chr2:71618380
|
G | A | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4465-2167G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618380 | ||||||
| chr2:71618382
|
A | AGAGGTGG others(1259): Show |
1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1270): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618382 | |||||
| chr2:71618387
|
T | TGGTGTGT others(1268): Show |
6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1279): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618387 | |||||
| chr2:71618387
|
T | TGGTGTGT others(1287): Show |
1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1298): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618387 | |||||
| chr2:71618387
|
T | TGGTGTGT others(1289): Show |
1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1300): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618387 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1284): Show |
1 | a0001c0015t0001g0034 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1295): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1286): Show |
5 | a0001c0004t0001g0030a0001c0015t0001g0207a0004c0011t0001g0081others(2): Show | 5 | HG01109.hp1 HG02257.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1297): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1275): Show |
3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141 | 3 | HG00735.hp1 HG03209.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1286): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1296): Show |
3 | a0001c0052t0004g0021a0002c0022t0001g0111a0003c0043t0001g0116 | 3 | HG02055.hp2 HG03540.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1307): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1295): Show |
1 | a0014c0082t0002g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1306): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1322): Show |
1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1333): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618388
|
G | GGTGTGTG others(1264): Show |
1 | a0001c0007t0002g0148 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1275): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618388 | |||||
| chr2:71618389
|
G | GGGTGTGT others(695): Show |
1 | a0001c0006t0002g0151 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.4465-2158_4465-215 others(706): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618389 | ||||||
| chr2:71618390
|
T | G | 2 | a0001c0006t0002g0151a0017c0038t0001g0015 | 2 | HG02074.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.4465-2157T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618390 | ||||||
| chr2:71618390
|
T | TGTGTGTG others(1280): Show |
5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1291): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(1279): Show |
3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1290): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(693): Show |
2 | a0001c0051t0002g0195a0019c0049t0001g0104 | 2 | HG00558.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(704): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(1297): Show |
1 | a0028c0068t0001g0202 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1308): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(1299): Show |
1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1310): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(1209): Show |
2 | a0001c0010t0005g0091a0027c0059t0005g0117 | 2 | HG02818.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1220): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(1222): Show |
1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1233): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(693): Show |
7 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0108others(4): Show | 7 | HG01255.hp1 HG01255.hp2 NA18963.hp2 others(4): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(704): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(671): Show |
8 | a0001c0001t0001g0106a0001c0003t0001g0006a0001c0003t0001g0008others(5): Show | 8 | HG00642.hp2 HG00735.hp2 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(682): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(695): Show |
46 | a0001c0001t0001g0037a0001c0001t0001g0056a0001c0001t0001g0078others(43): Show | 46 | HG00438.hp2 HG00673.hp1 HG00738.hp1 others(43): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(706): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(697): Show |
2 | a0001c0019t0002g0171a0026c0030t0001g0016 | 2 | HG00140.hp2 HG02165.hp1 |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(708): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(671): Show |
1 | a0001c0003t0001g0007 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(682): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(696): Show |
1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(707): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(689): Show |
1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(700): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618390
|
T | TGTGTGTG others(675): Show |
1 | a0001c0028t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(686): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618390 | |||||
| chr2:71618392
|
T | TGTGTGTG others(13): Show |
1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4465-2133_4465-211 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618392 | |||||
| chr2:71618392
|
T | TGTGTGTG others(1279): Show |
1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4465-2135_4465-213 others(1290): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618392 | |||||
| chr2:71618392
|
T | TGTGTGTG others(1307): Show |
1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(1318): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618392 | |||||
| chr2:71618392
|
T | TGTGTGTG others(1311): Show |
8 | a0001c0001t0003g0059a0001c0004t0001g0080a0001c0007t0002g0189others(5): Show | 8 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.4465-2144_4465-214 others(1322): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618392 | |||||
| chr2:71618392
|
T | TGTGTGTG others(693): Show |
1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.4465-2144_4465-214 others(704): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618392 | |||||
| chr2:71618411
|
T | TGGCATGT others(963): Show |
1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-2134_4465-213 others(974): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618411 | |||||
| chr2:71618411
|
T | TGGCATGT others(1292): Show |
1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4465-2134_4465-213 others(1303): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618411 | |||||
| chr2:71618412
|
G | GGTGT | 3 | a0001c0010t0005g0091a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4465-2127_4465-212 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618412 | |||||
| chr2:71618414
|
T | G | 1 | a0017c0038t0001g0015 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.4465-2133T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618414 | ||||||
| chr2:71618451
|
T | TG | 70 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(67): Show | 70 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.4465-2092dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618451 | |||||
| chr2:71618456
|
T | G | 83 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(80): Show | 83 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.4465-2091T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618456 | ||||||
| chr2:71618457
|
T | TGTGTGTG others(10): Show |
1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4465-2069_4465-205 others(21): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618457 | |||||
| chr2:71618474
|
G | GGT | 4 | a0001c0010t0001g0035a0002c0021t0002g0149a0002c0022t0001g0201others(1): Show | 4 | HG01891.hp2 HG02280.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.4465-2063_4465-206 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618474 | |||||
| chr2:71618474
|
GGT | G | 7 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141others(4): Show | 7 | HG00735.hp1 HG02055.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.4465-2063_4465-206 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618474 | |||||
| chr2:71618510
|
A | G | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-2037A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618510 | ||||||
| chr2:71618513
|
G | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4465-2034G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618513 | ||||||
| chr2:71618515
|
T | C | 3 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129 | 3 | HG00738.hp1 HG01071.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.4465-2032T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618515 | ||||||
| chr2:71618564
|
GTGTT | G | 18 | a0001c0001t0003g0059a0001c0002t0002g0172a0001c0004t0001g0080others(15): Show | 18 | HG00140.hp1 HG01261.hp1 HG02647.hp1 others(15): Show |
intron_variant | MODIFIER | c.4465-1979_4465-197 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618564 | |||||
| chr2:71618567
|
T | TGTTGTGT others(13): Show |
1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-1980_4465-197 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618567 | ||||||
| chr2:71618568
|
T | G | 71 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(68): Show | 71 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.4465-1979T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618568 | ||||||
| chr2:71618571
|
T | G | 70 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(67): Show | 70 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.4465-1976T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618571 | ||||||
| chr2:71618573
|
T | G | 71 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(68): Show | 71 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.4465-1974T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618573 | ||||||
| chr2:71618590
|
T | G | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-1957T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618590 | ||||||
| chr2:71618590
|
TGTGTGGT others(11): Show |
T | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4465-1939_4465-192 others(22): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618590 | |||||
| chr2:71618604
|
G | GGTGTGTG others(548): Show |
1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4465-1940_4465-193 others(559): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618604
|
G | GGTGTGTG others(566): Show |
1 | a0001c0001t0001g0056 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.4465-1940_4465-193 others(577): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618604
|
G | GGTGTGTG others(568): Show |
67 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(64): Show | 67 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.4465-1940_4465-193 others(579): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618604
|
G | GGTGTGTG others(570): Show |
1 | a0001c0008t0002g0178 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.4465-1940_4465-193 others(581): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618604
|
G | GGTGTGTG others(565): Show |
1 | a0001c0003t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4465-1940_4465-193 others(576): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618604
|
G | GGTGTGTG others(257): Show |
1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.4465-1940_4465-193 others(268): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618604 | |||||
| chr2:71618608
|
G | T | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.4465-1939G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618608 | ||||||
| chr2:71618677
|
A | AGGT | 74 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(71): Show | 74 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(71): Show |
intron_variant | MODIFIER | c.4465-1868_4465-186 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618677 | |||||
| chr2:71618718
|
G | A | 8 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(5): Show | 8 | HG01167.hp2 HG02257.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.4465-1829G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618718 | ||||||
| chr2:71618752
|
G | A | 1 | a0001c0001t0002g0183 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4465-1795G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618752 | ||||||
| chr2:71618781
|
G | T | 74 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(71): Show | 74 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(71): Show |
intron_variant | MODIFIER | c.4465-1766G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618781 | ||||||
| chr2:71618836
|
C | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4465-1711C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618836 | ||||||
| chr2:71618901
|
A | ACTCCCAG others(1): Show |
2 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4465-1628_4465-162 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618901 | |||||
| chr2:71618925
|
G | GCT | 2 | a0001c0084t0001g0038a0003c0090t0001g0136 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4465-1621_4465-162 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618925 | |||||
| chr2:71618926
|
CGCTGGG | C | 6 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(3): Show | 6 | HG01167.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.4465-1611_4465-160 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | 71618926 | |||||
| chr2:71618927
|
G | C | 2 | a0001c0084t0001g0038a0003c0090t0001g0136 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4465-1620G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618927 | ||||||
| chr2:71618929
|
T | A | 2 | a0001c0084t0001g0038a0003c0090t0001g0136 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4465-1618T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618929 | ||||||
| chr2:71618932
|
G | C | 2 | a0001c0084t0001g0038a0003c0090t0001g0136 | 2 | HG02257.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.4465-1615G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71618932 | ||||||
| chr2:71619016
|
G | A | 4 | a0001c0002t0001g0067a0001c0002t0002g0180a0001c0005t0001g0062others(1): Show | 4 | HG01175.hp2 HG01261.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.4465-1531G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619016 | ||||||
| chr2:71619204
|
A | T | 5 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(2): Show | 5 | HG01167.hp2 HG01261.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4465-1343A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619204 | ||||||
| chr2:71619276
|
G | A | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4465-1271G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619276 | ||||||
| chr2:71619399
|
G | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4465-1148G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619399 | ||||||
| chr2:71619496
|
G | A | 2 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4465-1051G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619496 | ||||||
| chr2:71619505
|
C | T | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4465-1042C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619505 | ||||||
| chr2:71619569
|
A | G | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4465-978A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619569 | ||||||
| chr2:71619699
|
C | T | 4 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(1): Show | 4 | HG01433.hp2 HG02148.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.4465-848C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619699 | ||||||
| chr2:71619937
|
A | G | 15 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(12): Show | 15 | HG00735.hp1 HG01109.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.4465-610A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619937 | ||||||
| chr2:71619956
|
A | G | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4465-591A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619956 | ||||||
| chr2:71619990
|
G | T | 95 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(92): Show | 95 | HG00140.hp2 HG00438.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.4465-557G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71619990 | ||||||
| chr2:71620173
|
A | G | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4465-374A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71620173 | ||||||
| chr2:71620264
|
C | T | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4465-283C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71620264 | ||||||
| chr2:71620468
|
G | A | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4465-79G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | 71620468 | ||||||
| chr2:71620750
|
C | G | 2 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | HG02723.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.4527+141C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71620750 | ||||||
| chr2:71620801
|
A | G | 1 | a0001c0009t0001g0064 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4527+192A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71620801 | ||||||
| chr2:71620813
|
C | A | 122 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(119): Show | 122 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(119): Show |
intron_variant | MODIFIER | c.4527+204C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71620813 | ||||||
| chr2:71620859
|
T | A | 10 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0001g0080others(7): Show | 10 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.4527+250T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71620859 | ||||||
| chr2:71620946
|
G | A | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.4527+337G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71620946 | ||||||
| chr2:71621003
|
T | A | 6 | a0001c0001t0001g0078a0001c0001t0002g0160a0001c0003t0001g0055others(3): Show | 6 | HG00438.hp2 HG00673.hp1 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.4527+394T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621003 | ||||||
| chr2:71621013
|
A | G | 130 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(127): Show | 130 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(127): Show |
intron_variant | MODIFIER | c.4527+404A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621013 | ||||||
| chr2:71621066
|
G | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+457G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621066 | ||||||
| chr2:71621093
|
C | T | 1 | a0001c0024t0001g0085 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.4527+484C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621093 | ||||||
| chr2:71621258
|
A | G | 13 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(10): Show | 13 | HG01099.hp1 HG01167.hp1 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.4527+649A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621258 | ||||||
| chr2:71621282
|
C | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+673C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621282 | ||||||
| chr2:71621312
|
G | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+703G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621312 | ||||||
| chr2:71621315
|
G | A | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+706G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621315 | ||||||
| chr2:71621387
|
C | G | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+778C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621387 | ||||||
| chr2:71621560
|
T | C | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4527+951T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621560 | ||||||
| chr2:71621566
|
A | G | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+957A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621566 | ||||||
| chr2:71621617
|
ATG | A | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+1014_4527+101 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71621617 | |||||
| chr2:71621673
|
T | A | 3 | a0001c0001t0002g0183a0001c0048t0002g0190a0021c0064t0001g0058 | 3 | HG00738.hp2 HG02698.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.4527+1064T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621673 | ||||||
| chr2:71621822
|
G | A | 126 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(123): Show | 126 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
intron_variant | MODIFIER | c.4527+1213G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621822 | ||||||
| chr2:71621841
|
A | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4527+1232A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621841 | ||||||
| chr2:71621881
|
G | A | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+1272G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621881 | ||||||
| chr2:71621898
|
A | G | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4527+1289A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621898 | ||||||
| chr2:71621910
|
C | T | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.4527+1301C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71621910 | ||||||
| chr2:71622043
|
TTTG | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+1437_4527+143 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622043 | |||||
| chr2:71622089
|
T | C | 3 | a0001c0001t0002g0183a0001c0048t0002g0190a0021c0064t0001g0058 | 3 | HG00738.hp2 HG02698.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.4527+1480T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622089 | ||||||
| chr2:71622110
|
T | C | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4527+1501T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622110 | ||||||
| chr2:71622120
|
T | C | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+1511T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622120 | ||||||
| chr2:71622129
|
TG | T | 14 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(11): Show | 14 | HG00735.hp1 HG01109.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.4527+1521delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622129 | ||||||
| chr2:71622130
|
G | GT | 5 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(2): Show | 5 | HG01167.hp2 HG01981.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+1537dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622130 | |||||
| chr2:71622130
|
G | GTTTTTTT others(3): Show |
4 | a0002c0022t0001g0201a0018c0041t0001g0118a0024c0045t0001g0093others(1): Show | 4 | HG02280.hp1 HG02922.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.4527+1528_4527+153 others(14): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622130 | |||||
| chr2:71622130
|
G | GTTTTTTT others(4): Show |
46 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(43): Show | 46 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(43): Show |
intron_variant | MODIFIER | c.4527+1527_4527+153 others(15): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622130 | |||||
| chr2:71622130
|
G | GTTTTTTT others(5): Show |
26 | a0001c0001t0001g0056a0001c0001t0001g0082a0001c0001t0001g0106others(23): Show | 26 | HG00558.hp1 HG00642.hp2 HG00735.hp2 others(23): Show |
intron_variant | MODIFIER | c.4527+1526_4527+153 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622130 | |||||
| chr2:71622130
|
G | GTTTTTTT others(6): Show |
5 | a0001c0001t0001g0037a0001c0001t0001g0119a0001c0008t0001g0126others(2): Show | 5 | HG02486.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+1525_4527+153 others(17): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622130 | |||||
| chr2:71622130
|
G | T | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4527+1521G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622130 | ||||||
| chr2:71622135
|
T | TTTTTTTT others(2): Show |
42 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(39): Show | 42 | HG00438.hp1 HG00544.hp2 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.4527+1534_4527+153 others(13): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71622135 | |||||
| chr2:71622163
|
T | C | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+1554T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622163 | ||||||
| chr2:71622267
|
C | T | 4 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(1): Show | 4 | HG01433.hp2 HG02148.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.4527+1658C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622267 | ||||||
| chr2:71622338
|
T | C | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.4527+1729T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622338 | ||||||
| chr2:71622410
|
A | G | 7 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141others(4): Show | 7 | HG00735.hp1 HG02055.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.4527+1801A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622410 | ||||||
| chr2:71622506
|
C | T | 3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.4527+1897C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622506 | ||||||
| chr2:71622583
|
T | G | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4527+1974T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622583 | ||||||
| chr2:71622584
|
G | T | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4527+1975G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622584 | ||||||
| chr2:71622695
|
A | G | 1 | a0001c0001t0001g0078 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.4527+2086A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622695 | ||||||
| chr2:71622905
|
G | A | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4527+2296G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71622905 | ||||||
| chr2:71623052
|
G | A | 6 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(3): Show | 6 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4527+2443G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623052 | ||||||
| chr2:71623064
|
C | T | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.4527+2455C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623064 | ||||||
| chr2:71623070
|
A | G | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4527+2461A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623070 | ||||||
| chr2:71623143
|
G | A | 10 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0001g0080others(7): Show | 10 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.4527+2534G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623143 | ||||||
| chr2:71623175
|
AT | A | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+2577delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71623175 | |||||
| chr2:71623186
|
T | A | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4527+2577T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623186 | ||||||
| chr2:71623241
|
T | A | 10 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0001g0080others(7): Show | 10 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.4527+2632T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623241 | ||||||
| chr2:71623272
|
C | A | 3 | a0001c0002t0002g0173a0001c0005t0002g0177a0001c0081t0001g0018 | 3 | HG01071.hp1 HG04204.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.4527+2663C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623272 | ||||||
| chr2:71623282
|
G | A | 1 | a0001c0003t0001g0098 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.4527+2673G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623282 | ||||||
| chr2:71623299
|
A | G | 72 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(69): Show | 72 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.4527+2690A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623299 | ||||||
| chr2:71623314
|
G | A | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+2705G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623314 | ||||||
| chr2:71623318
|
C | G | 80 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(77): Show | 80 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.4527+2709C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623318 | ||||||
| chr2:71623360
|
A | G | 2 | a0001c0002t0001g0017a0001c0002t0001g0048 | 2 | HG01433.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.4527+2751A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623360 | ||||||
| chr2:71623407
|
T | C | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4527+2798T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623407 | ||||||
| chr2:71623411
|
C | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(124): Show | 127 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.4527+2802C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623411 | ||||||
| chr2:71623412
|
G | A | 3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.4527+2803G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623412 | ||||||
| chr2:71623469
|
G | A | 125 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(122): Show | 125 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.4527+2860G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623469 | ||||||
| chr2:71623605
|
A | G | 125 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(122): Show | 125 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
intron_variant | MODIFIER | c.4527+2996A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623605 | ||||||
| chr2:71623670
|
G | A | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4527+3061G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623670 | ||||||
| chr2:71623672
|
T | A | 3 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129 | 3 | HG00738.hp1 HG01071.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.4527+3063T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623672 | ||||||
| chr2:71623692
|
G | A | 3 | a0001c0010t0001g0035a0002c0021t0002g0149a0028c0068t0001g0202 | 3 | HG01891.hp2 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.4527+3083G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623692 | ||||||
| chr2:71623835
|
C | T | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4527+3226C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623835 | ||||||
| chr2:71623930
|
G | A | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4527+3321G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71623930 | ||||||
| chr2:71624011
|
G | A | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4527+3402G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624011 | ||||||
| chr2:71624013
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4527+3404G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624013 | ||||||
| chr2:71624033
|
C | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4527+3424C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624033 | ||||||
| chr2:71624068
|
CAACA | C | 93 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(90): Show | 93 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.4527+3465_4527+346 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71624068 | |||||
| chr2:71624079
|
C | G | 3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.4527+3470C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624079 | ||||||
| chr2:71624113
|
A | G | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+3504A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624113 | ||||||
| chr2:71624122
|
A | G | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4527+3513A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624122 | ||||||
| chr2:71624260
|
T | A | 11 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(8): Show | 11 | HG02647.hp2 HG02723.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.4527+3651T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624260 | ||||||
| chr2:71624300
|
C | G | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+3691C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624300 | ||||||
| chr2:71624385
|
C | T | 7 | a0001c0001t0003g0059a0001c0012t0001g0208a0001c0047t0003g0145others(4): Show | 7 | HG02630.hp1 HG02647.hp1 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.4527+3776C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624385 | ||||||
| chr2:71624393
|
T | C | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+3784T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624393 | ||||||
| chr2:71624395
|
A | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4527+3786A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624395 | ||||||
| chr2:71624400
|
G | A | 1 | a0001c0028t0001g0060 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.4527+3791G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624400 | ||||||
| chr2:71624459
|
A | G | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+3850A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624459 | ||||||
| chr2:71624511
|
C | T | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4527+3902C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624511 | ||||||
| chr2:71624530
|
G | A | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4527+3921G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624530 | ||||||
| chr2:71624534
|
G | T | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+3925G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624534 | ||||||
| chr2:71624535
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+3926G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624535 | ||||||
| chr2:71624668
|
T | A | 69 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(66): Show | 69 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.4527+4059T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624668 | ||||||
| chr2:71624682
|
G | GT | 2 | a0001c0048t0002g0190a0021c0064t0001g0058 | 2 | HG00738.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.4527+4074dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71624682 | |||||
| chr2:71624725
|
C | T | 99 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(96): Show | 99 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.4527+4116C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624725 | ||||||
| chr2:71624728
|
G | A | 7 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204others(4): Show | 7 | HG01167.hp2 HG02630.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.4527+4119G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624728 | ||||||
| chr2:71624822
|
A | T | 36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.4527+4213A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624822 | ||||||
| chr2:71624865
|
T | TG | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+4258dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71624865 | |||||
| chr2:71624891
|
ACTT | A | 12 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(9): Show | 12 | HG00738.hp2 HG01099.hp1 HG01167.hp1 others(9): Show |
intron_variant | MODIFIER | c.4527+4287_4527+428 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71624891 | |||||
| chr2:71624904
|
A | G | 7 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(4): Show | 7 | HG01433.hp2 HG01891.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+4295A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71624904 | ||||||
| chr2:71625058
|
C | T | 1 | a0001c0002t0001g0051 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.4527+4449C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625058 | ||||||
| chr2:71625127
|
ATAGAT | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+4522_4527+452 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71625127 | |||||
| chr2:71625131
|
ATTAG | A | 7 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(4): Show | 7 | HG01433.hp2 HG01891.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+4525_4527+452 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71625131 | |||||
| chr2:71625203
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.4527+4594C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625203 | ||||||
| chr2:71625233
|
TTCTC | T | 7 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(4): Show | 7 | HG02257.hp2 HG02717.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+4632_4527+463 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71625233 | |||||
| chr2:71625235
|
C | T | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4527+4626C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625235 | ||||||
| chr2:71625254
|
A | G | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4527+4645A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625254 | ||||||
| chr2:71625282
|
T | C | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+4673T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625282 | ||||||
| chr2:71625311
|
C | G | 3 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119 | 3 | HG02970.hp2 HG03098.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4527+4702C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625311 | ||||||
| chr2:71625342
|
A | T | 1 | a0001c0024t0001g0085 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.4527+4733A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625342 | ||||||
| chr2:71625538
|
T | C | 207 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(204): Show |
intron_variant | MODIFIER | c.4527+4929T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625538 | ||||||
| chr2:71625609
|
G | A | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4527+5000G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625609 | ||||||
| chr2:71625684
|
T | TA | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+5083dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71625684 | |||||
| chr2:71625755
|
T | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+5146T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625755 | ||||||
| chr2:71625764
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+5155G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71625764 | ||||||
| chr2:71626044
|
C | T | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4527+5435C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626044 | ||||||
| chr2:71626110
|
A | G | 7 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(4): Show | 7 | HG01433.hp2 HG01891.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+5501A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626110 | ||||||
| chr2:71626158
|
C | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4527+5549C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626158 | ||||||
| chr2:71626251
|
T | C | 3 | a0001c0010t0005g0091a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4527+5642T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626251 | ||||||
| chr2:71626275
|
C | A | 3 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0129 | 3 | HG00738.hp1 HG01071.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.4527+5666C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626275 | ||||||
| chr2:71626293
|
T | C | 99 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(96): Show | 99 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.4527+5684T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626293 | ||||||
| chr2:71626308
|
GT | G | 101 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(98): Show | 101 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.4527+5707delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71626308 | |||||
| chr2:71626447
|
C | CAT | 97 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(94): Show | 97 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(94): Show |
intron_variant | MODIFIER | c.4527+5841_4527+584 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71626447 | |||||
| chr2:71626762
|
T | G | 3 | a0001c0009t0008g0196a0001c0053t0001g0206a0015c0083t0002g0188 | 3 | HG01167.hp1 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4527+6153T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626762 | ||||||
| chr2:71626778
|
A | G | 2 | a0001c0002t0001g0051a0001c0002t0002g0170 | 2 | NA18612.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.4527+6169A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71626778 | ||||||
| chr2:71627424
|
A | T | 2 | a0001c0007t0002g0189a0001c0040t0001g0096 | 2 | HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.4527+6815A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627424 | ||||||
| chr2:71627661
|
G | A | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4527+7052G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627661 | ||||||
| chr2:71627735
|
T | G | 1 | a0001c0002t0002g0163 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.4527+7126T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627735 | ||||||
| chr2:71627746
|
A | G | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4527+7137A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627746 | ||||||
| chr2:71627763
|
A | G | 7 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(4): Show | 7 | HG01433.hp2 HG01891.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+7154A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627763 | ||||||
| chr2:71627980
|
G | A | 6 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(3): Show | 6 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.4527+7371G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71627980 | ||||||
| chr2:71628417
|
CT | C | 93 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(90): Show | 93 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.4527+7819delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71628417 | |||||
| chr2:71628747
|
C | T | 2 | a0002c0022t0001g0201a0002c0023t0001g0036 | 2 | HG03139.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4527+8138C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71628747 | ||||||
| chr2:71628951
|
C | CA | 12 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141others(9): Show | 12 | HG00735.hp1 HG02055.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.4527+8355dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71628951 | |||||
| chr2:71628964
|
A | AT | 4 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(1): Show | 4 | HG01433.hp2 HG02148.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.4527+8358dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71628964 | |||||
| chr2:71628982
|
GTTTAA | G | 2 | a0001c0001t0001g0078a0001c0003t0001g0055 | 2 | HG02040.hp1 HG02040.hp2 |
intron_variant | MODIFIER | c.4527+8382_4527+838 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71628982 | |||||
| chr2:71629099
|
G | A | 96 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(93): Show | 96 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.4527+8490G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629099 | ||||||
| chr2:71629104
|
C | A | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4527+8495C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629104 | ||||||
| chr2:71629337
|
C | G | 101 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(98): Show | 101 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.4527+8728C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629337 | ||||||
| chr2:71629338
|
A | C | 101 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(98): Show | 101 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.4527+8729A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629338 | ||||||
| chr2:71629552
|
G | A | 75 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(72): Show | 75 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.4527+8943G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629552 | ||||||
| chr2:71629632
|
T | C | 37 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(34): Show | 37 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.4527+9023T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629632 | ||||||
| chr2:71629657
|
A | G | 3 | a0001c0010t0005g0091a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4527+9048A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629657 | ||||||
| chr2:71629661
|
AT | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+9056delT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71629661 | |||||
| chr2:71629786
|
G | A | 6 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(3): Show | 6 | HG02647.hp2 HG02723.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.4527+9177G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629786 | ||||||
| chr2:71629955
|
A | G | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+9346A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629955 | ||||||
| chr2:71629994
|
C | T | 3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.4527+9385C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71629994 | ||||||
| chr2:71630089
|
A | T | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+9480A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630089 | ||||||
| chr2:71630100
|
G | GGGAA | 3 | a0001c0086t0001g0198a0016c0036t0001g0115a0030c0069t0001g0200 | 3 | HG01891.hp1 HG03017.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.4527+9493_4527+949 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71630100 | |||||
| chr2:71630129
|
C | G | 188 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(185): Show | 188 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(185): Show |
intron_variant | MODIFIER | c.4527+9520C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630129 | ||||||
| chr2:71630159
|
G | T | 1 | a0005c0034t0002g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.4527+9550G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630159 | ||||||
| chr2:71630223
|
A | G | 36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.4527+9614A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630223 | ||||||
| chr2:71630469
|
C | T | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4527+9860C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630469 | ||||||
| chr2:71630864
|
A | G | 1 | a0019c0049t0001g0104 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.4527+10255A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630864 | ||||||
| chr2:71630945
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+10336G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71630945 | ||||||
| chr2:71631016
|
T | G | 3 | a0001c0003t0001g0010a0001c0025t0002g0191a0005c0034t0002g0153 | 3 | HG01123.hp1 HG03669.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4527+10407T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631016 | ||||||
| chr2:71631147
|
A | G | 7 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0002t0001g0017others(4): Show | 7 | HG01167.hp2 HG01433.hp2 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4527+10538A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631147 | ||||||
| chr2:71631255
|
T | C | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+10646T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631255 | ||||||
| chr2:71631283
|
T | G | 4 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(1): Show | 4 | HG01433.hp2 HG02148.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.4527+10674T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631283 | ||||||
| chr2:71631301
|
A | G | 8 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(5): Show | 8 | HG01261.hp1 HG02647.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.4527+10692A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631301 | ||||||
| chr2:71631435
|
C | T | 73 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(70): Show | 73 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.4527+10826C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631435 | ||||||
| chr2:71631639
|
C | T | 2 | a0001c0009t0001g0064a0001c0019t0002g0171 | 2 | HG01081.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.4527+11030C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631639 | ||||||
| chr2:71631653
|
T | A | 1 | a0015c0083t0002g0188 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.4527+11044T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631653 | ||||||
| chr2:71631678
|
G | T | 1 | a0001c0001t0001g0135 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4527+11069G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631678 | ||||||
| chr2:71631709
|
T | C | 1 | a0001c0002t0002g0166 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.4527+11100T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631709 | ||||||
| chr2:71631788
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4527+11179G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631788 | ||||||
| chr2:71631941
|
C | T | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4527+11332C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631941 | ||||||
| chr2:71631986
|
C | A | 3 | a0001c0010t0005g0091a0001c0078t0001g0199a0027c0059t0005g0117 | 3 | HG02818.hp1 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4527+11377C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631986 | ||||||
| chr2:71631986
|
C | G | 11 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(8): Show | 11 | HG00738.hp2 HG01099.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.4527+11377C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71631986 | ||||||
| chr2:71632139
|
A | G | 8 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(5): Show | 8 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.4527+11530A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632139 | ||||||
| chr2:71632208
|
C | T | 1 | a0002c0022t0001g0201 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4527+11599C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632208 | ||||||
| chr2:71632279
|
C | A | 1 | a0030c0069t0001g0200 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4527+11670C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632279 | ||||||
| chr2:71632380
|
T | C | 1 | a0001c0014t0002g0175 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4528-11585T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632380 | ||||||
| chr2:71632383
|
A | G | 2 | a0001c0007t0001g0139a0001c0037t0001g0044 | 2 | HG02717.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4528-11582A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632383 | ||||||
| chr2:71632701
|
T | C | 1 | a0001c0003t0001g0007 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4528-11264T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632701 | ||||||
| chr2:71632748
|
A | C | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.4528-11217A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632748 | ||||||
| chr2:71632797
|
A | G | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-11168A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632797 | ||||||
| chr2:71632851
|
C | G | 2 | a0001c0053t0001g0206a0015c0083t0002g0188 | 2 | HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4528-11114C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632851 | ||||||
| chr2:71632964
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-11001G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632964 | ||||||
| chr2:71632984
|
A | C | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-10981A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71632984 | ||||||
| chr2:71633154
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-10811G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633154 | ||||||
| chr2:71633211
|
G | A | 1 | a0013c0054t0002g0169 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4528-10754G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633211 | ||||||
| chr2:71633212
|
G | A | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4528-10753G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633212 | ||||||
| chr2:71633241
|
A | T | 2 | a0001c0006t0002g0151a0001c0006t0002g0176 | 2 | HG02074.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.4528-10724A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633241 | ||||||
| chr2:71633276
|
G | A | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4528-10689G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633276 | ||||||
| chr2:71633671
|
A | G | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4528-10294A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633671 | ||||||
| chr2:71633752
|
C | T | 3 | a0002c0075t0001g0138a0006c0076t0004g0019a0029c0072t0001g0144 | 3 | HG03471.hp1 HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.4528-10213C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633752 | ||||||
| chr2:71633763
|
C | T | 108 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(105): Show | 108 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(105): Show |
intron_variant | MODIFIER | c.4528-10202C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633763 | ||||||
| chr2:71633905
|
C | T | 11 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(8): Show | 11 | HG00738.hp2 HG01099.hp1 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.4528-10060C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71633905 | ||||||
| chr2:71634071
|
A | G | 2 | a0001c0002t0002g0172a0022c0066t0001g0075 | 2 | HG03942.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.4528-9894A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634071 | ||||||
| chr2:71634242
|
G | A | 1 | a0001c0089t0001g0024 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4528-9723G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634242 | ||||||
| chr2:71634316
|
T | A | 6 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(3): Show | 6 | HG02647.hp2 HG02723.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.4528-9649T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634316 | ||||||
| chr2:71634423
|
A | G | 12 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0001g0080others(9): Show | 12 | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(9): Show |
intron_variant | MODIFIER | c.4528-9542A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634423 | ||||||
| chr2:71634456
|
A | G | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4528-9509A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634456 | ||||||
| chr2:71634457
|
T | G | 37 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(34): Show | 37 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.4528-9508T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634457 | ||||||
| chr2:71634460
|
C | T | 6 | a0001c0007t0001g0139a0001c0009t0008g0196a0001c0037t0001g0044others(3): Show | 6 | HG01167.hp1 HG02717.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.4528-9505C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634460 | ||||||
| chr2:71634486
|
C | T | 3 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119 | 3 | HG02970.hp2 HG03098.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4528-9479C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634486 | ||||||
| chr2:71634609
|
G | T | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0003c0065t0001g0110 | 3 | HG02976.hp2 HG03225.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.4528-9356G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634609 | ||||||
| chr2:71634624
|
C | T | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.4528-9341C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634624 | ||||||
| chr2:71634678
|
A | G | 1 | a0001c0007t0002g0148 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4528-9287A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634678 | ||||||
| chr2:71634705
|
T | G | 36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.4528-9260T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634705 | ||||||
| chr2:71634710
|
T | C | 1 | a0001c0009t0001g0053 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.4528-9255T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634710 | ||||||
| chr2:71634753
|
G | T | 2 | a0001c0010t0001g0035a0028c0068t0001g0202 | 2 | HG01891.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4528-9212G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634753 | ||||||
| chr2:71634949
|
G | A | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4528-9016G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71634949 | ||||||
| chr2:71635049
|
A | G | 1 | a0001c0085t0001g0029 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4528-8916A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635049 | ||||||
| chr2:71635164
|
G | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-8801G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635164 | ||||||
| chr2:71635206
|
G | A | 36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.4528-8759G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635206 | ||||||
| chr2:71635426
|
T | C | 1 | a0001c0019t0002g0171 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4528-8539T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635426 | ||||||
| chr2:71635475
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4528-8490C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635475 | ||||||
| chr2:71635476
|
G | A | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4528-8489G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635476 | ||||||
| chr2:71635485
|
C | T | 8 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032others(5): Show | 8 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.4528-8480C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635485 | ||||||
| chr2:71635519
|
G | A | 2 | a0009c0029t0005g0084a0031c0071t0005g0077 | 2 | HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.4528-8446G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635519 | ||||||
| chr2:71635591
|
T | C | 7 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(4): Show | 7 | HG01261.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.4528-8374T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635591 | ||||||
| chr2:71635748
|
C | CA | 11 | a0001c0004t0001g0030a0001c0007t0004g0020a0001c0007t0004g0022others(8): Show | 11 | HG01081.hp2 HG01884.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.4528-8200dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635748 | |||||
| chr2:71635748
|
C | CAA | 63 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(60): Show | 63 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(60): Show |
intron_variant | MODIFIER | c.4528-8201_4528-820 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635748 | |||||
| chr2:71635748
|
C | CAAA | 9 | a0001c0074t0001g0094a0001c0086t0001g0198a0002c0075t0001g0138others(6): Show | 9 | HG02630.hp1 HG03017.hp1 HG03195.hp2 others(6): Show |
intron_variant | MODIFIER | c.4528-8202_4528-820 others(7): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635748 | |||||
| chr2:71635761
|
AAAAAGAA others(2): Show |
A | 9 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(6): Show | 9 | HG01261.hp1 HG02647.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.4528-8199_4528-819 others(13): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635761 | |||||
| chr2:71635764
|
AAGAAAG | A | 67 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0049others(64): Show | 67 | HG00438.hp2 HG00544.hp1 HG00642.hp2 others(64): Show |
intron_variant | MODIFIER | c.4528-8199_4528-819 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635764 | |||||
| chr2:71635765
|
AG | A | 3 | a0001c0002t0001g0017a0001c0017t0001g0101a0001c0017t0001g0133 | 3 | HG01433.hp2 NA18979.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4528-8199delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635765 | ||||||
| chr2:71635765
|
AGAAAG | A | 11 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(8): Show | 11 | HG00140.hp2 HG00738.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.4528-8199_4528-819 others(9): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635765 | ||||||
| chr2:71635766
|
G | A | 9 | a0001c0002t0001g0048a0001c0009t0008g0196a0001c0016t0001g0026others(6): Show | 9 | HG00558.hp1 HG01167.hp1 HG02148.hp2 others(6): Show |
intron_variant | MODIFIER | c.4528-8199G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635766 | ||||||
| chr2:71635770
|
G | A | 4 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(1): Show | 4 | HG01433.hp2 HG02148.hp2 NA18979.hp2 others(1): Show |
intron_variant | MODIFIER | c.4528-8195G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635770 | ||||||
| chr2:71635770
|
GAAAAAAG others(2): Show |
G | 8 | a0001c0009t0008g0196a0001c0016t0001g0026a0001c0016t0001g0027others(5): Show | 8 | HG00558.hp1 HG01167.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.4528-8191_4528-818 others(13): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635770 | |||||
| chr2:71635777
|
G | A | 5 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(2): Show | 5 | HG01433.hp2 HG02148.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-8188G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635777 | ||||||
| chr2:71635777
|
GAA | G | 86 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(83): Show | 86 | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(83): Show |
intron_variant | MODIFIER | c.4528-8184_4528-818 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71635777 | |||||
| chr2:71635779
|
A | G | 5 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(2): Show | 5 | HG01433.hp2 HG02148.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-8186A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635779 | ||||||
| chr2:71635809
|
A | G | 7 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101others(4): Show | 7 | HG01433.hp2 HG01891.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.4528-8156A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71635809 | ||||||
| chr2:71636169
|
C | A | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4528-7796C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636169 | ||||||
| chr2:71636170
|
G | A | 18 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(15): Show | 18 | HG00735.hp1 HG01109.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.4528-7795G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636170 | ||||||
| chr2:71636220
|
A | G | 1 | a0001c0017t0001g0101 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.4528-7745A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636220 | ||||||
| chr2:71636285
|
C | T | 2 | a0001c0067t0001g0083a0001c0074t0001g0094 | 2 | HG02723.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4528-7680C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636285 | ||||||
| chr2:71636360
|
G | T | 2 | a0001c0007t0002g0189a0001c0040t0001g0096 | 2 | HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.4528-7605G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636360 | ||||||
| chr2:71636389
|
A | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4528-7576A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636389 | ||||||
| chr2:71636511
|
TG | T | 36 | a0001c0002t0001g0040a0001c0002t0001g0046a0001c0002t0001g0067others(33): Show | 36 | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.4528-7452delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71636511 | |||||
| chr2:71636573
|
G | C | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.4528-7392G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636573 | ||||||
| chr2:71636619
|
A | G | 1 | a0003c0065t0001g0110 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4528-7346A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636619 | ||||||
| chr2:71636832
|
G | A | 7 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(4): Show | 7 | HG01261.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.4528-7133G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636832 | ||||||
| chr2:71636862
|
C | T | 2 | a0001c0007t0002g0189a0001c0040t0001g0096 | 2 | HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.4528-7103C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636862 | ||||||
| chr2:71636925
|
G | A | 3 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0017t0001g0101 | 3 | HG01433.hp2 HG02148.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.4528-7040G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636925 | ||||||
| chr2:71636976
|
A | C | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4528-6989A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71636976 | ||||||
| chr2:71637084
|
A | T | 1 | a0001c0067t0001g0083 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4528-6881A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637084 | ||||||
| chr2:71637102
|
C | T | 9 | a0001c0003t0001g0043a0001c0004t0001g0080a0001c0007t0002g0189others(6): Show | 9 | HG02647.hp2 HG02723.hp1 HG03195.hp1 others(6): Show |
intron_variant | MODIFIER | c.4528-6863C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637102 | ||||||
| chr2:71637103
|
G | A | 1 | a0001c0009t0008g0196 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.4528-6862G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637103 | ||||||
| chr2:71637247
|
A | G | 194 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(191): Show | 194 | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(191): Show |
intron_variant | MODIFIER | c.4528-6718A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637247 | ||||||
| chr2:71637514
|
G | C | 2 | a0001c0007t0002g0189a0001c0040t0001g0096 | 2 | HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.4528-6451G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637514 | ||||||
| chr2:71637689
|
T | G | 1 | a0001c0048t0002g0190 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4528-6276T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637689 | ||||||
| chr2:71637807
|
A | G | 1 | a0001c0003t0001g0008 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.4528-6158A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637807 | ||||||
| chr2:71637886
|
G | C | 1 | a0001c0007t0002g0189 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4528-6079G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637886 | ||||||
| chr2:71637944
|
G | A | 1 | a0013c0054t0002g0169 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4528-6021G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637944 | ||||||
| chr2:71637951
|
A | T | 4 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4528-6014A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637951 | ||||||
| chr2:71637984
|
T | G | 9 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(6): Show | 9 | HG01167.hp1 HG01891.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.4528-5981T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71637984 | ||||||
| chr2:71638047
|
C | G | 117 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(114): Show | 117 | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(114): Show |
intron_variant | MODIFIER | c.4528-5918C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638047 | ||||||
| chr2:71638127
|
A | C | 7 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(4): Show | 7 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.4528-5838A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638127 | ||||||
| chr2:71638145
|
C | T | 1 | a0001c0019t0002g0171 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4528-5820C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638145 | ||||||
| chr2:71638157
|
C | T | 53 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0106others(50): Show | 53 | HG00642.hp2 HG00735.hp2 HG01074.hp2 others(50): Show |
intron_variant | MODIFIER | c.4528-5808C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638157 | ||||||
| chr2:71638202
|
T | C | 2 | a0001c0010t0005g0091a0027c0059t0005g0117 | 2 | HG02818.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4528-5763T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638202 | ||||||
| chr2:71638247
|
A | ATAATCCA others(21): Show |
3 | a0001c0002t0002g0164a0001c0020t0001g0131a0001c0020t0001g0132 | 3 | NA18947.hp1 NA18962.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.4528-5697_4528-569 others(32): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71638247 | |||||
| chr2:71638252
|
C | T | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4528-5713C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638252 | ||||||
| chr2:71638353
|
C | T | 1 | a0001c0032t0002g0193 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4528-5612C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638353 | ||||||
| chr2:71638361
|
C | CA | 161 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0078others(158): Show | 161 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(158): Show |
intron_variant | MODIFIER | c.4528-5587dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71638361 | |||||
| chr2:71638361
|
C | CAA | 9 | a0001c0001t0001g0002a0001c0001t0002g0194a0001c0002t0001g0067others(6): Show | 9 | HG00738.hp2 HG02074.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.4528-5588_4528-558 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71638361 | |||||
| chr2:71638400
|
T | C | 1 | a0001c0006t0002g0176 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.4528-5565T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638400 | ||||||
| chr2:71638438
|
G | T | 101 | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0056others(98): Show | 101 | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(98): Show |
intron_variant | MODIFIER | c.4528-5527G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638438 | ||||||
| chr2:71638591
|
T | A | 94 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(91): Show | 94 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(91): Show |
intron_variant | MODIFIER | c.4528-5374T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638591 | ||||||
| chr2:71638775
|
T | C | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4528-5190T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638775 | ||||||
| chr2:71638883
|
C | T | 4 | a0001c0074t0001g0094a0004c0011t0001g0081a0004c0011t0001g0103others(1): Show | 4 | HG01109.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.4528-5082C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638883 | ||||||
| chr2:71638951
|
A | G | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4528-5014A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71638951 | ||||||
| chr2:71639337
|
A | T | 2 | a0001c0002t0002g0172a0022c0066t0001g0075 | 2 | HG03942.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.4528-4628A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71639337 | ||||||
| chr2:71639612
|
G | T | 7 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(4): Show | 7 | HG02257.hp1 HG02723.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.4528-4353G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71639612 | ||||||
| chr2:71639712
|
A | G | 97 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(94): Show | 97 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(94): Show |
intron_variant | MODIFIER | c.4528-4253A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71639712 | ||||||
| chr2:71639837
|
C | T | 2 | a0002c0075t0001g0138a0006c0076t0004g0019 | 2 | HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.4528-4128C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71639837 | ||||||
| chr2:71639887
|
T | C | 17 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(14): Show | 17 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.4528-4078T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71639887 | ||||||
| chr2:71640223
|
G | A | 6 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(3): Show | 6 | HG02257.hp1 HG02723.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.4528-3742G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640223 | ||||||
| chr2:71640506
|
G | A | 3 | a0001c0009t0001g0064a0001c0048t0002g0190a0012c0055t0001g0063 | 3 | HG00140.hp1 HG01081.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.4528-3459G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640506 | ||||||
| chr2:71640515
|
TA | T | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4528-3449delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640515 | ||||||
| chr2:71640668
|
T | G | 3 | a0001c0004t0001g0025a0001c0004t0001g0031a0001c0004t0001g0032 | 3 | HG02486.hp1 HG02922.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.4528-3297T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640668 | ||||||
| chr2:71640740
|
C | CGT | 24 | a0001c0001t0001g0005a0001c0001t0001g0105a0001c0002t0001g0052others(21): Show | 24 | HG00140.hp2 HG00738.hp2 HG01071.hp1 others(21): Show |
intron_variant | MODIFIER | c.4528-3196_4528-319 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71640740 | |||||
| chr2:71640740
|
CGT | C | 30 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0001t0002g0194others(27): Show | 30 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.4528-3196_4528-319 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71640740 | |||||
| chr2:71640740
|
CGTGT | C | 10 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(7): Show | 10 | HG02257.hp1 HG02723.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.4528-3198_4528-319 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71640740 | |||||
| chr2:71640740
|
CGTGTGT | C | 14 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(11): Show | 14 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.4528-3200_4528-319 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71640740 | |||||
| chr2:71640815
|
A | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-3150A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640815 | ||||||
| chr2:71640920
|
A | T | 156 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(153): Show | 156 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.4528-3045A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640920 | ||||||
| chr2:71640932
|
T | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-3033T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71640932 | ||||||
| chr2:71641029
|
C | T | 20 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(17): Show | 20 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.4528-2936C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641029 | ||||||
| chr2:71641144
|
A | G | 1 | a0002c0070t0001g0079 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.4528-2821A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641144 | ||||||
| chr2:71641155
|
T | G | 1 | a0002c0023t0001g0036 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4528-2810T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641155 | ||||||
| chr2:71641178
|
A | AT | 103 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(100): Show | 103 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(100): Show |
intron_variant | MODIFIER | c.4528-2769dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71641178 | |||||
| chr2:71641178
|
A | ATT | 32 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(29): Show | 32 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.4528-2770_4528-276 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71641178 | |||||
| chr2:71641178
|
A | ATTTTTT | 14 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0012t0001g0208others(11): Show | 14 | HG01109.hp1 HG01167.hp1 HG02809.hp1 others(11): Show |
intron_variant | MODIFIER | c.4528-2774_4528-276 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71641178 | |||||
| chr2:71641209
|
C | T | 17 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(14): Show | 17 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.4528-2756C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641209 | ||||||
| chr2:71641216
|
T | C | 1 | a0001c0025t0002g0191 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.4528-2749T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641216 | ||||||
| chr2:71641218
|
G | T | 3 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG02257.hp1 HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.4528-2747G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641218 | ||||||
| chr2:71641240
|
G | A | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-2725G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641240 | ||||||
| chr2:71641303
|
C | T | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-2662C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641303 | ||||||
| chr2:71641325
|
C | T | 4 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0032t0002g0193others(1): Show | 4 | HG01884.hp1 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4528-2640C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641325 | ||||||
| chr2:71641327
|
C | T | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4528-2638C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641327 | ||||||
| chr2:71641334
|
A | G | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4528-2631A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641334 | ||||||
| chr2:71641401
|
G | A | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4528-2564G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641401 | ||||||
| chr2:71641414
|
C | T | 2 | a0001c0037t0001g0044a0023c0058t0001g0205 | 2 | HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4528-2551C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641414 | ||||||
| chr2:71641423
|
C | T | 3 | a0001c0039t0001g0061a0001c0067t0001g0083a0001c0085t0001g0029 | 3 | HG02723.hp2 HG03041.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.4528-2542C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641423 | ||||||
| chr2:71641431
|
G | A | 1 | a0001c0005t0001g0087 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.4528-2534G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641431 | ||||||
| chr2:71641461
|
T | G | 4 | a0001c0074t0001g0094a0004c0011t0001g0081a0004c0011t0001g0103others(1): Show | 4 | HG01109.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.4528-2504T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641461 | ||||||
| chr2:71641542
|
T | C | 2 | a0001c0018t0001g0100a0010c0046t0001g0066 | 2 | HG00438.hp2 HG00673.hp1 |
intron_variant | MODIFIER | c.4528-2423T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641542 | ||||||
| chr2:71641590
|
A | G | 1 | a0006c0063t0001g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4528-2375A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641590 | ||||||
| chr2:71641706
|
T | TG | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-2258dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 71641706 | |||||
| chr2:71641741
|
T | G | 1 | a0001c0073t0001g0128 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.4528-2224T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641741 | ||||||
| chr2:71641827
|
T | C | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4528-2138T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641827 | ||||||
| chr2:71641882
|
G | A | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4528-2083G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641882 | ||||||
| chr2:71641952
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4528-2013G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641952 | ||||||
| chr2:71641953
|
G | A | 1 | a0009c0029t0005g0084 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4528-2012G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641953 | ||||||
| chr2:71641994
|
A | G | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4528-1971A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641994 | ||||||
| chr2:71641995
|
G | A | 4 | a0001c0004t0001g0080a0002c0021t0001g0042a0003c0044t0001g0023others(1): Show | 4 | HG02723.hp1 HG03195.hp1 NA20300.hp2 others(1): Show |
intron_variant | MODIFIER | c.4528-1970G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71641995 | ||||||
| chr2:71642041
|
T | G | 1 | a0001c0002t0001g0073 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.4528-1924T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642041 | ||||||
| chr2:71642046
|
A | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-1919A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642046 | ||||||
| chr2:71642516
|
G | A | 2 | a0001c0001t0001g0129a0001c0003t0002g0161 | 2 | HG01433.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.4528-1449G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642516 | ||||||
| chr2:71642698
|
G | A | 1 | a0001c0003t0002g0161 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.4528-1267G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642698 | ||||||
| chr2:71642882
|
G | A | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-1083G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642882 | ||||||
| chr2:71642936
|
A | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4528-1029A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71642936 | ||||||
| chr2:71643002
|
C | G | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4528-963C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643002 | ||||||
| chr2:71643495
|
G | T | 6 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0001t0002g0194others(3): Show | 6 | HG01433.hp2 HG01978.hp1 HG02083.hp2 others(3): Show |
intron_variant | MODIFIER | c.4528-470G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643495 | ||||||
| chr2:71643561
|
T | C | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4528-404T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643561 | ||||||
| chr2:71643630
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.4528-335C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643630 | ||||||
| chr2:71643654
|
A | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4528-311A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643654 | ||||||
| chr2:71643689
|
G | T | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4528-276G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643689 | ||||||
| chr2:71643838
|
C | T | 11 | a0001c0001t0001g0049a0001c0010t0001g0035a0001c0016t0001g0026others(8): Show | 11 | HG01109.hp1 HG01891.hp2 HG02809.hp1 others(8): Show |
intron_variant | MODIFIER | c.4528-127C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643838 | ||||||
| chr2:71643909
|
A | G | 156 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(153): Show | 156 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.4528-56A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 41/55 | chr2 | 71643909 | ||||||
| chr2:71644106
|
A | G | 162 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(159): Show | 162 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(159): Show |
intron_variant | MODIFIER | c.4626+43A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644106 | ||||||
| chr2:71644311
|
T | C | 2 | a0001c0001t0001g0002a0001c0017t0001g0133 | 2 | NA18963.hp2 NA18979.hp2 |
intron_variant | MODIFIER | c.4626+248T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644311 | ||||||
| chr2:71644367
|
A | G | 151 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(148): Show | 151 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.4626+304A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644367 | ||||||
| chr2:71644454
|
G | A | 1 | a0002c0022t0001g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4626+391G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644454 | ||||||
| chr2:71644506
|
A | G | 1 | a0001c0003t0001g0114 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.4626+443A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644506 | ||||||
| chr2:71644522
|
G | A | 2 | a0001c0032t0002g0193a0025c0033t0002g0152 | 2 | HG01884.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.4626+459G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644522 | ||||||
| chr2:71644548
|
A | C | 4 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4626+485A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644548 | ||||||
| chr2:71644791
|
C | T | 1 | a0001c0032t0002g0193 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.4626+728C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644791 | ||||||
| chr2:71644881
|
G | T | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.4626+818G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644881 | ||||||
| chr2:71644905
|
G | C | 4 | a0001c0074t0001g0094a0004c0011t0001g0081a0004c0011t0001g0103others(1): Show | 4 | HG01109.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.4626+842G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71644905 | ||||||
| chr2:71644920
|
A | AAAG | 5 | a0001c0001t0002g0179a0001c0003t0001g0098a0001c0003t0001g0114others(2): Show | 5 | HG02523.hp1 HG02523.hp2 NA18946.hp2 others(2): Show |
intron_variant | MODIFIER | c.4626+858_4626+860d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71644920 | |||||
| chr2:71645024
|
T | C | 123 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0056others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(120): Show |
intron_variant | MODIFIER | c.4626+961T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645024 | ||||||
| chr2:71645103
|
A | G | 97 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(94): Show | 97 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(94): Show |
intron_variant | MODIFIER | c.4626+1040A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645103 | ||||||
| chr2:71645126
|
C | T | 20 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(17): Show | 20 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.4626+1063C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645126 | ||||||
| chr2:71645169
|
C | T | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4626+1106C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645169 | ||||||
| chr2:71645188
|
C | T | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4626+1125C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645188 | ||||||
| chr2:71645230
|
G | A | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4626+1167G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645230 | ||||||
| chr2:71645395
|
G | A | 15 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(12): Show | 15 | HG01167.hp1 HG01891.hp2 HG02809.hp1 others(12): Show |
intron_variant | MODIFIER | c.4626+1332G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645395 | ||||||
| chr2:71645443
|
C | T | 1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4626+1380C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645443 | ||||||
| chr2:71645447
|
A | G | 1 | a0001c0040t0001g0096 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.4626+1384A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645447 | ||||||
| chr2:71645565
|
T | TGGGGGTG others(2): Show |
6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.4626+1504_4626+151 others(13): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71645565 | |||||
| chr2:71645583
|
G | A | 2 | a0001c0032t0002g0193a0025c0033t0002g0152 | 2 | HG01884.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.4626+1520G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645583 | ||||||
| chr2:71645641
|
G | C | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4626+1578G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645641 | ||||||
| chr2:71645647
|
T | TG | 207 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(204): Show | 207 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(204): Show |
intron_variant | MODIFIER | c.4626+1586dupG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71645647 | |||||
| chr2:71645685
|
C | T | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4626+1622C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645685 | ||||||
| chr2:71645702
|
G | A | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4626+1639G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645702 | ||||||
| chr2:71645834
|
A | C | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4626+1771A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645834 | ||||||
| chr2:71645918
|
G | A | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4626+1855G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71645918 | ||||||
| chr2:71646176
|
G | A | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4626+2113G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71646176 | ||||||
| chr2:71646303
|
G | C | 2 | a0001c0003t0001g0013a0001c0024t0001g0054 | 2 | HG01123.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.4626+2240G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71646303 | ||||||
| chr2:71646477
|
C | T | 3 | a0001c0039t0001g0061a0001c0067t0001g0083a0001c0085t0001g0029 | 3 | HG02723.hp2 HG03041.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.4626+2414C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71646477 | ||||||
| chr2:71646680
|
A | T | 6 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0039t0001g0061others(3): Show | 6 | HG02083.hp2 HG02723.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.4626+2617A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71646680 | ||||||
| chr2:71646974
|
A | G | 1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4626+2911A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71646974 | ||||||
| chr2:71647005
|
ACT | A | 22 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(19): Show | 22 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(19): Show |
intron_variant | MODIFIER | c.4626+2946_4626+294 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71647005 | |||||
| chr2:71647354
|
C | T | 1 | a0001c0008t0001g0126 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4626+3291C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71647354 | ||||||
| chr2:71647693
|
A | T | 3 | a0001c0004t0001g0080a0002c0021t0001g0042a0003c0044t0001g0023 | 3 | HG02723.hp1 HG03195.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.4626+3630A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71647693 | ||||||
| chr2:71647906
|
C | T | 171 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(168): Show | 171 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(168): Show |
intron_variant | MODIFIER | c.4626+3843C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71647906 | ||||||
| chr2:71647940
|
G | A | 1 | a0002c0022t0001g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.4626+3877G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71647940 | ||||||
| chr2:71648085
|
C | T | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4626+4022C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71648085 | ||||||
| chr2:71648148
|
G | A | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4626+4085G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71648148 | ||||||
| chr2:71648436
|
G | A | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4626+4373G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71648436 | ||||||
| chr2:71648541
|
TA | T | 150 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(147): Show | 150 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.4626+4486delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71648541 | |||||
| chr2:71648549
|
A | C | 1 | a0001c0077t0001g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4626+4486A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71648549 | ||||||
| chr2:71648581
|
C | A | 1 | a0001c0001t0001g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.4626+4518C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71648581 | ||||||
| chr2:71649137
|
C | CA | 96 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(93): Show | 96 | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(93): Show |
intron_variant | MODIFIER | c.4626+5095dupA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71649137 | |||||
| chr2:71649137
|
C | CAA | 10 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0001t0002g0194others(7): Show | 10 | HG00438.hp1 HG01099.hp2 HG01433.hp2 others(7): Show |
intron_variant | MODIFIER | c.4626+5094_4626+509 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71649137 | |||||
| chr2:71649137
|
CA | C | 8 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(5): Show | 8 | HG01109.hp1 HG01167.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.4626+5095delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71649137 | |||||
| chr2:71649137
|
CAAAAAAA others(4): Show |
C | 5 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(2): Show | 5 | HG02257.hp1 HG03225.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.4626+5085_4626+509 others(15): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71649137 | |||||
| chr2:71649186
|
C | A | 150 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(147): Show | 150 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.4626+5123C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649186 | ||||||
| chr2:71649358
|
C | A | 123 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(120): Show |
intron_variant | MODIFIER | c.4626+5295C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649358 | ||||||
| chr2:71649432
|
T | A | 1 | a0001c0056t0002g0162 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.4626+5369T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649432 | ||||||
| chr2:71649571
|
A | G | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.4626+5508A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649571 | ||||||
| chr2:71649683
|
T | A | 3 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207 | 3 | HG02257.hp1 HG03225.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.4626+5620T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649683 | ||||||
| chr2:71649738
|
A | G | 1 | a0001c0001t0002g0160 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.4626+5675A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649738 | ||||||
| chr2:71649778
|
C | T | 2 | a0001c0032t0002g0193a0025c0033t0002g0152 | 2 | HG01884.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.4626+5715C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649778 | ||||||
| chr2:71649917
|
T | C | 5 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0084t0001g0038others(2): Show | 5 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.4626+5854T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71649917 | ||||||
| chr2:71650018
|
T | C | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4626+5955T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650018 | ||||||
| chr2:71650267
|
A | C | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4627-5895A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650267 | ||||||
| chr2:71650298
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0002g0167 | 2 | HG02083.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.4627-5864C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650298 | ||||||
| chr2:71650341
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4627-5821C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650341 | ||||||
| chr2:71650651
|
A | C | 3 | a0001c0009t0001g0064a0001c0048t0002g0190a0012c0055t0001g0063 | 3 | HG00140.hp1 HG01081.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.4627-5511A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650651 | ||||||
| chr2:71650716
|
A | C | 1 | a0001c0051t0002g0195 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.4627-5446A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650716 | ||||||
| chr2:71650755
|
A | T | 7 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(4): Show | 7 | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.4627-5407A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650755 | ||||||
| chr2:71650887
|
G | A | 150 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(147): Show | 150 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.4627-5275G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650887 | ||||||
| chr2:71650992
|
G | A | 19 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(16): Show | 19 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.4627-5170G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71650992 | ||||||
| chr2:71651466
|
A | G | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4627-4696A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71651466 | ||||||
| chr2:71651555
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4627-4607G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71651555 | ||||||
| chr2:71651939
|
A | G | 1 | a0001c0001t0002g0167 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.4627-4223A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71651939 | ||||||
| chr2:71652029
|
A | AT | 8 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0012t0001g0033others(5): Show | 8 | HG02083.hp2 HG02257.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.4627-4132dupT | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71652029 | |||||
| chr2:71652075
|
C | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4627-4087C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652075 | ||||||
| chr2:71652287
|
A | G | 2 | a0001c0001t0001g0056a0001c0001t0002g0167 | 2 | HG02083.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.4627-3875A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652287 | ||||||
| chr2:71652304
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0002g0167 | 2 | HG02083.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.4627-3858C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652304 | ||||||
| chr2:71652305
|
G | A | 3 | a0001c0002t0002g0173a0001c0005t0002g0177a0001c0081t0001g0018 | 3 | HG01071.hp1 HG04204.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.4627-3857G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652305 | ||||||
| chr2:71652613
|
A | G | 7 | a0001c0004t0001g0030a0001c0007t0004g0020a0001c0007t0004g0022others(4): Show | 7 | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.4627-3549A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652613 | ||||||
| chr2:71652718
|
T | C | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4627-3444T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652718 | ||||||
| chr2:71652725
|
G | C | 1 | a0001c0001t0001g0049 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4627-3437G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652725 | ||||||
| chr2:71652738
|
C | T | 1 | a0001c0005t0001g0062 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.4627-3424C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652738 | ||||||
| chr2:71652844
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0002g0167 | 2 | HG02083.hp2 NA18946.hp1 |
intron_variant | MODIFIER | c.4627-3318C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652844 | ||||||
| chr2:71652941
|
A | T | 4 | a0001c0001t0002g0158a0001c0008t0001g0109a0001c0008t0002g0157others(1): Show | 4 | NA18970.hp1 NA18979.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.4627-3221A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652941 | ||||||
| chr2:71652955
|
G | A | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.4627-3207G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71652955 | ||||||
| chr2:71653081
|
G | A | 91 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(88): Show | 91 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(88): Show |
intron_variant | MODIFIER | c.4627-3081G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653081 | ||||||
| chr2:71653147
|
A | G | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4627-3015A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653147 | ||||||
| chr2:71653252
|
T | C | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4627-2910T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653252 | ||||||
| chr2:71653354
|
T | C | 1 | a0014c0082t0002g0150 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.4627-2808T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653354 | ||||||
| chr2:71653403
|
A | C | 1 | a0001c0007t0001g0139 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4627-2759A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653403 | ||||||
| chr2:71653536
|
C | G | 1 | a0001c0080t0001g0086 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.4627-2626C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653536 | ||||||
| chr2:71653576
|
C | T | 1 | a0001c0002t0001g0069 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.4627-2586C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653576 | ||||||
| chr2:71653581
|
G | A | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4627-2581G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653581 | ||||||
| chr2:71653652
|
G | A | 1 | a0026c0030t0001g0016 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.4627-2510G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653652 | ||||||
| chr2:71653653
|
C | A | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4627-2509C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653653 | ||||||
| chr2:71653678
|
G | A | 4 | a0001c0007t0004g0020a0001c0007t0004g0022a0001c0032t0002g0193others(1): Show | 4 | HG01884.hp1 HG02258.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.4627-2484G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653678 | ||||||
| chr2:71653830
|
A | G | 16 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(13): Show | 16 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.4627-2332A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71653830 | ||||||
| chr2:71653875
|
TATAAAC | T | 91 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(88): Show | 91 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(88): Show |
intron_variant | MODIFIER | c.4627-2282_4627-227 others(10): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71653875 | |||||
| chr2:71654096
|
A | G | 95 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(92): Show | 95 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(92): Show |
intron_variant | MODIFIER | c.4627-2066A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654096 | ||||||
| chr2:71654112
|
A | G | 5 | a0001c0010t0005g0091a0009c0029t0005g0084a0020c0062t0001g0045others(2): Show | 5 | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.4627-2050A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654112 | ||||||
| chr2:71654238
|
T | A | 123 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(120): Show | 123 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.4627-1924T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654238 | ||||||
| chr2:71654300
|
T | C | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4627-1862T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654300 | ||||||
| chr2:71654399
|
G | A | 1 | a0001c0003t0001g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4627-1763G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654399 | ||||||
| chr2:71654471
|
G | A | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4627-1691G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654471 | ||||||
| chr2:71654520
|
T | C | 151 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(148): Show | 151 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.4627-1642T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654520 | ||||||
| chr2:71654586
|
C | T | 1 | a0029c0072t0001g0144 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4627-1576C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654586 | ||||||
| chr2:71654707
|
G | T | 1 | a0001c0002t0002g0165 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.4627-1455G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654707 | ||||||
| chr2:71654894
|
C | T | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4627-1268C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71654894 | ||||||
| chr2:71655403
|
G | A | 147 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(144): Show | 147 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.4627-759G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655403 | ||||||
| chr2:71655429
|
T | A | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4627-733T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655429 | ||||||
| chr2:71655534
|
G | A | 3 | a0001c0010t0001g0035a0001c0037t0001g0044a0023c0058t0001g0205 | 3 | HG01891.hp2 HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4627-628G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655534 | ||||||
| chr2:71655587
|
G | C | 155 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(152): Show | 155 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(152): Show |
intron_variant | MODIFIER | c.4627-575G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655587 | ||||||
| chr2:71655589
|
A | G | 5 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(2): Show | 5 | HG01167.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4627-573A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655589 | ||||||
| chr2:71655741
|
T | G | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4627-421T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655741 | ||||||
| chr2:71655857
|
C | T | 19 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(16): Show | 19 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.4627-305C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655857 | ||||||
| chr2:71655870
|
A | G | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4627-292A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | chr2 | 71655870 | ||||||
| chr2:71655912
|
TCTC | T | 19 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(16): Show | 19 | HG01109.hp1 HG01167.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.4627-243_4627-241d others(5): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 71655912 | |||||
| chr2:71656348
|
A | G | 3 | a0001c0001t0001g0056a0001c0001t0002g0167a0002c0022t0001g0111 | 3 | HG02083.hp2 NA18946.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4755+58A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656348 | ||||||
| chr2:71656440
|
C | T | 1 | a0001c0002t0001g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.4755+150C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656440 | ||||||
| chr2:71656444
|
C | T | 1 | a0001c0018t0001g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.4755+154C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656444 | ||||||
| chr2:71656515
|
A | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4755+225A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656515 | ||||||
| chr2:71656741
|
C | G | 1 | a0001c0003t0001g0039 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4755+451C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656741 | ||||||
| chr2:71656814
|
A | T | 1 | a0001c0005t0001g0092 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.4755+524A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71656814 | ||||||
| chr2:71657091
|
G | T | 1 | a0001c0001t0002g0194 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.4755+801G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71657091 | ||||||
| chr2:71657270
|
C | T | 3 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141 | 3 | HG00735.hp1 HG03209.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4755+980C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71657270 | ||||||
| chr2:71658082
|
G | A | 19 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(16): Show | 19 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.4756-796G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658082 | ||||||
| chr2:71658137
|
C | T | 1 | a0001c0002t0002g0156 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4756-741C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658137 | ||||||
| chr2:71658138
|
G | A | 1 | a0006c0063t0001g0140 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4756-740G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658138 | ||||||
| chr2:71658703
|
C | T | 1 | a0001c0014t0001g0004 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.4756-175C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658703 | ||||||
| chr2:71658714
|
T | C | 1 | a0001c0003t0001g0039 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.4756-164T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658714 | ||||||
| chr2:71658722
|
A | G | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4756-156A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658722 | ||||||
| chr2:71658730
|
C | A | 2 | a0001c0032t0002g0193a0025c0033t0002g0152 | 2 | HG01884.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.4756-148C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658730 | ||||||
| chr2:71658840
|
G | A | 4 | a0001c0074t0001g0094a0004c0011t0001g0081a0004c0011t0001g0103others(1): Show | 4 | HG01109.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.4756-38G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 43/55 | chr2 | 71658840 | ||||||
| chr2:71659134
|
G | T | 1 | a0003c0044t0001g0023 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4911+101G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659134 | ||||||
| chr2:71659143
|
A | G | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4911+110A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659143 | ||||||
| chr2:71659283
|
G | A | 1 | a0001c0019t0002g0171 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4911+250G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659283 | ||||||
| chr2:71659445
|
A | G | 4 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4911+412A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659445 | ||||||
| chr2:71659450
|
T | G | 164 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(161): Show | 164 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(161): Show |
intron_variant | MODIFIER | c.4911+417T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659450 | ||||||
| chr2:71659481
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4911+448G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659481 | ||||||
| chr2:71659690
|
G | A | 2 | a0001c0002t0002g0172a0022c0066t0001g0075 | 2 | HG03942.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.4911+657G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659690 | ||||||
| chr2:71659825
|
A | T | 13 | a0001c0001t0001g0049a0001c0010t0001g0035a0001c0016t0001g0026others(10): Show | 13 | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.4912-735A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659825 | ||||||
| chr2:71659930
|
C | T | 151 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(148): Show | 151 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.4912-630C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71659930 | ||||||
| chr2:71660019
|
G | T | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4912-541G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660019 | ||||||
| chr2:71660070
|
T | C | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4912-490T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660070 | ||||||
| chr2:71660080
|
C | T | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4912-480C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660080 | ||||||
| chr2:71660096
|
C | A | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.4912-464C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660096 | ||||||
| chr2:71660181
|
T | C | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4912-379T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660181 | ||||||
| chr2:71660456
|
C | T | 1 | a0001c0002t0002g0180 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4912-104C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 44/55 | chr2 | 71660456 | ||||||
| chr2:71660679
|
G | A | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5003+28G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71660679 | ||||||
| chr2:71660848
|
C | T | 3 | a0001c0002t0002g0173a0001c0005t0002g0177a0001c0081t0001g0018 | 3 | HG01071.hp1 HG04204.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.5003+197C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71660848 | ||||||
| chr2:71660849
|
T | C | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5003+198T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71660849 | ||||||
| chr2:71660895
|
T | C | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.5003+244T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71660895 | ||||||
| chr2:71661116
|
CA | C | 114 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(111): Show | 114 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
intron_variant | MODIFIER | c.5003+486delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71661116 | |||||
| chr2:71661116
|
CAA | C | 5 | a0001c0001t0001g0049a0001c0001t0002g0160a0001c0024t0001g0085others(2): Show | 5 | HG01074.hp1 HG03195.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.5003+485_5003+486d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71661116 | |||||
| chr2:71661318
|
C | T | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.5003+667C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71661318 | ||||||
| chr2:71661621
|
A | G | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5003+970A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71661621 | ||||||
| chr2:71661971
|
A | G | 174 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(171): Show | 174 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(171): Show |
intron_variant | MODIFIER | c.5003+1320A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71661971 | ||||||
| chr2:71662026
|
C | G | 153 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(150): Show | 153 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.5003+1375C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662026 | ||||||
| chr2:71662031
|
G | A | 18 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(15): Show | 18 | HG01109.hp1 HG01167.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.5003+1380G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662031 | ||||||
| chr2:71662044
|
G | A | 18 | a0001c0001t0001g0049a0001c0009t0008g0196a0001c0010t0001g0035others(15): Show | 18 | HG01109.hp1 HG01167.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.5003+1393G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662044 | ||||||
| chr2:71662192
|
C | T | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5003+1541C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662192 | ||||||
| chr2:71662237
|
C | T | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5003+1586C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662237 | ||||||
| chr2:71662438
|
GTGTGTGT others(43): Show |
G | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.5003+1803_5004-176 others(54): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662438 | |||||
| chr2:71662472
|
G | A | 1 | a0001c0002t0001g0102 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.5004-1796G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662472 | ||||||
| chr2:71662488
|
TTGTGTGT others(3): Show |
T | 4 | a0001c0001t0001g0056a0001c0001t0002g0167a0001c0078t0001g0199others(1): Show | 4 | HG02083.hp2 HG03453.hp1 NA18946.hp1 others(1): Show |
intron_variant | MODIFIER | c.5004-1770_5004-176 others(14): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662488 | |||||
| chr2:71662494
|
GTA | G | 14 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(11): Show | 14 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(11): Show |
intron_variant | MODIFIER | c.5004-1772_5004-177 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662494 | |||||
| chr2:71662518
|
GTGTC | G | 15 | a0001c0002t0001g0003a0001c0002t0001g0073a0001c0002t0002g0164others(12): Show | 15 | HG00140.hp1 HG00544.hp1 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.5004-1746_5004-174 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662518 | |||||
| chr2:71662536
|
CTGTG | C | 4 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0040t0001g0096others(1): Show | 4 | HG01167.hp1 HG03209.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.5004-1729_5004-172 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662536 | |||||
| chr2:71662601
|
G | A | 1 | a0001c0010t0001g0041 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.5004-1667G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662601 | ||||||
| chr2:71662641
|
T | TTGTG | 161 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(158): Show | 161 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(158): Show |
intron_variant | MODIFIER | c.5004-1623_5004-162 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662641 | |||||
| chr2:71662672
|
C | T | 1 | a0008c0091t0002g0174 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.5004-1596C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662672 | ||||||
| chr2:71662707
|
TTGTATGT others(7): Show |
T | 1 | a0001c0019t0002g0187 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5004-1553_5004-154 others(18): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662707 | |||||
| chr2:71662789
|
TTGTGTCT others(1): Show |
T | 2 | a0002c0075t0001g0138a0006c0076t0004g0019 | 2 | HG03486.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5004-1465_5004-145 others(12): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662789 | |||||
| chr2:71662803
|
CTGTG | C | 5 | a0001c0004t0001g0030a0001c0010t0001g0041a0001c0015t0001g0034others(2): Show | 5 | HG01261.hp1 HG02257.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.5004-1460_5004-145 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662803 | |||||
| chr2:71662838
|
A | G | 1 | a0001c0009t0001g0053 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.5004-1430A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662838 | ||||||
| chr2:71662848
|
A | C | 1 | a0001c0009t0001g0053 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.5004-1420A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662848 | ||||||
| chr2:71662894
|
ACATTTGT others(5): Show |
A | 1 | a0001c0005t0001g0074 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.5004-1373_5004-136 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662894 | ||||||
| chr2:71662936
|
A | ATGTGTGT others(84): Show |
3 | a0001c0039t0001g0061a0001c0067t0001g0083a0001c0085t0001g0029 | 3 | HG02723.hp2 HG03041.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.5004-1316_5004-122 others(95): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662936 | |||||
| chr2:71662936
|
A | ATGTGTGT others(86): Show |
5 | a0001c0004t0001g0030a0001c0015t0001g0034a0001c0015t0001g0207others(2): Show | 5 | HG02257.hp1 HG03225.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.5004-1319_5004-122 others(97): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662936 | |||||
| chr2:71662936
|
A | ATGTGTGT others(88): Show |
86 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(83): Show | 86 | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.5004-1321_5004-122 others(99): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662936 | |||||
| chr2:71662936
|
A | ATGTGTGT others(90): Show |
3 | a0001c0001t0001g0135a0001c0001t0001g0203a0001c0006t0003g0204 | 3 | HG01167.hp2 HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.5004-1323_5004-122 others(101): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662936 | |||||
| chr2:71662964
|
G | A | 1 | a0001c0002t0002g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.5004-1304G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71662964 | ||||||
| chr2:71662991
|
T | TGTGTGTG others(88): Show |
1 | a0001c0024t0001g0085 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.5004-1227_5004-122 others(99): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71662991 | |||||
| chr2:71663024
|
C | CGTGT | 2 | a0001c0001t0002g0167a0001c0001t0002g0194 | 2 | NA18946.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.5004-1230_5004-122 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71663024 | |||||
| chr2:71663024
|
C | CGTGTGTG others(90): Show |
1 | a0001c0004t0001g0080 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.5004-1227_5004-122 others(101): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71663024 | |||||
| chr2:71663024
|
C | CGTGTGTG others(92): Show |
3 | a0001c0002t0001g0017a0001c0002t0001g0048a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 HG02148.hp2 |
intron_variant | MODIFIER | c.5004-1227_5004-122 others(103): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71663024 | |||||
| chr2:71663040
|
T | TGTGTGCA others(88): Show |
4 | a0001c0026t0001g0095a0001c0026t0001g0097a0001c0042t0001g0141others(1): Show | 4 | HG00735.hp1 HG02615.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.5004-1227_5004-122 others(99): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 71663040 | |||||
| chr2:71663069
|
A | G | 132 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(129): Show | 132 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(129): Show |
intron_variant | MODIFIER | c.5004-1199A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663069 | ||||||
| chr2:71663185
|
C | G | 99 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0078others(96): Show | 99 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.5004-1083C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663185 | ||||||
| chr2:71663202
|
G | A | 2 | a0001c0077t0001g0050a0002c0022t0001g0111 | 2 | HG01884.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.5004-1066G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663202 | ||||||
| chr2:71663331
|
T | C | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5004-937T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663331 | ||||||
| chr2:71663419
|
G | T | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5004-849G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663419 | ||||||
| chr2:71663912
|
C | T | 2 | a0001c0002t0001g0003a0001c0061t0002g0001 | 2 | HG03942.hp2 NA18973.hp1 |
intron_variant | MODIFIER | c.5004-356C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71663912 | ||||||
| chr2:71664019
|
G | A | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.5004-249G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664019 | ||||||
| chr2:71664106
|
C | T | 111 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(108): Show | 111 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(108): Show |
intron_variant | MODIFIER | c.5004-162C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664106 | ||||||
| chr2:71664108
|
C | T | 3 | a0001c0012t0001g0033a0001c0012t0001g0147a0003c0065t0001g0110 | 3 | HG02976.hp2 HG03225.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.5004-160C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664108 | ||||||
| chr2:71664149
|
G | C | 1 | a0001c0008t0002g0157 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.5004-119G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664149 | ||||||
| chr2:71664214
|
C | T | 2 | a0001c0067t0001g0083a0001c0085t0001g0029 | 2 | HG02723.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.5004-54C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664214 | ||||||
| chr2:71664231
|
C | T | 134 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(131): Show | 134 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.5004-37C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 45/55 | chr2 | 71664231 | ||||||
| chr2:71664951
|
G | A | 1 | a0025c0033t0002g0152 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5175-211G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 46/55 | chr2 | 71664951 | ||||||
| chr2:71665417
|
G | C | 1 | a0023c0058t0001g0205 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.5317+113G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71665417 | ||||||
| chr2:71665605
|
G | T | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5317+301G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71665605 | ||||||
| chr2:71665852
|
G | A | 1 | a0001c0056t0002g0162 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.5317+548G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71665852 | ||||||
| chr2:71665869
|
T | C | 3 | a0001c0001t0002g0194a0001c0002t0001g0017a0001c0013t0001g0057 | 3 | HG01433.hp2 HG01978.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.5317+565T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71665869 | ||||||
| chr2:71665926
|
G | C | 1 | a0001c0012t0001g0208 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5317+622G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71665926 | ||||||
| chr2:71666130
|
C | G | 13 | a0001c0001t0001g0049a0001c0007t0004g0020a0001c0007t0004g0022others(10): Show | 13 | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.5317+826C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666130 | ||||||
| chr2:71666268
|
AG | A | 2 | a0001c0010t0001g0041a0004c0011t0001g0146 | 2 | HG01109.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.5317+965delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666268 | ||||||
| chr2:71666332
|
C | T | 13 | a0001c0001t0001g0049a0001c0007t0004g0020a0001c0007t0004g0022others(10): Show | 13 | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.5317+1028C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666332 | ||||||
| chr2:71666794
|
C | T | 1 | a0001c0006t0003g0204 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.5318-582C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666794 | ||||||
| chr2:71666796
|
G | C | 1 | a0001c0078t0001g0199 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5318-580G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666796 | ||||||
| chr2:71666863
|
A | G | 15 | a0001c0001t0001g0049a0001c0007t0004g0020a0001c0007t0004g0022others(12): Show | 15 | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.5318-513A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666863 | ||||||
| chr2:71666972
|
C | T | 13 | a0001c0001t0001g0049a0001c0007t0004g0020a0001c0007t0004g0022others(10): Show | 13 | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.5318-404C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666972 | ||||||
| chr2:71666977
|
G | A | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5318-399G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71666977 | ||||||
| chr2:71667151
|
A | G | 13 | a0001c0001t0001g0049a0001c0007t0004g0020a0001c0007t0004g0022others(10): Show | 13 | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.5318-225A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 47/55 | chr2 | 71667151 | ||||||
| chr2:71667696
|
T | C | 6 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.5457+181T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71667696 | ||||||
| chr2:71667747
|
C | A | 1 | a0001c0060t0001g0197 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5457+232C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71667747 | ||||||
| chr2:71668027
|
T | C | 33 | a0001c0001t0001g0049a0001c0001t0003g0059a0001c0002t0001g0003others(30): Show | 33 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(30): Show |
intron_variant | MODIFIER | c.5457+512T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668027 | ||||||
| chr2:71668042
|
G | A | 7 | a0001c0004t0001g0080a0001c0004t0003g0112a0001c0004t0003g0113others(4): Show | 7 | HG01099.hp1 HG02109.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.5457+527G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668042 | ||||||
| chr2:71668131
|
G | C | 23 | a0001c0001t0001g0049a0001c0002t0001g0003a0001c0002t0001g0073others(20): Show | 23 | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(20): Show |
intron_variant | MODIFIER | c.5457+616G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668131 | ||||||
| chr2:71668220
|
C | T | 5 | a0001c0010t0005g0091a0009c0029t0005g0084a0020c0062t0001g0045others(2): Show | 5 | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.5458-534C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668220 | ||||||
| chr2:71668289
|
C | A | 1 | a0001c0009t0008g0196 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.5458-465C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668289 | ||||||
| chr2:71668301
|
A | T | 1 | a0011c0087t0001g0090 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5458-453A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668301 | ||||||
| chr2:71668371
|
G | A | 2 | a0001c0001t0001g0049a0001c0067t0001g0083 | 2 | HG02723.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5458-383G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668371 | ||||||
| chr2:71668464
|
G | T | 3 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017 | 3 | HG01433.hp2 NA18973.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.5458-290G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668464 | ||||||
| chr2:71668533
|
C | A | 6 | a0001c0010t0005g0091a0001c0019t0002g0187a0009c0029t0005g0084others(3): Show | 6 | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.5458-221C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668533 | ||||||
| chr2:71668612
|
C | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5458-142C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 48/55 | chr2 | 71668612 | ||||||
| chr2:71668889
|
C | T | 1 | a0001c0003t0001g0055 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5546+47C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 49/55 | chr2 | 71668889 | ||||||
| chr2:71669271
|
T | C | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5642+64T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 50/55 | chr2 | 71669271 | ||||||
| chr2:71669394
|
G | A | 1 | a0001c0052t0004g0021 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5642+187G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 50/55 | chr2 | 71669394 | ||||||
| chr2:71669477
|
A | T | 2 | a0001c0026t0001g0095a0001c0060t0001g0197 | 2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5643-128A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 50/55 | chr2 | 71669477 | ||||||
| chr2:71669499
|
G | A | 2 | a0001c0007t0004g0020a0001c0007t0004g0022 | 2 | HG02615.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.5643-106G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 50/55 | chr2 | 71669499 | ||||||
| chr2:71669870
|
A | G | 1 | a0015c0083t0002g0188 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5784+124A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71669870 | ||||||
| chr2:71669898
|
C | T | 2 | a0001c0007t0001g0139a0002c0022t0001g0201 | 2 | HG02717.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5784+152C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71669898 | ||||||
| chr2:71669945
|
A | G | 164 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(161): Show | 164 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(161): Show |
intron_variant | MODIFIER | c.5784+199A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71669945 | ||||||
| chr2:71670028
|
C | T | 2 | a0001c0007t0001g0139a0002c0022t0001g0201 | 2 | HG02717.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.5784+282C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670028 | ||||||
| chr2:71670044
|
G | A | 6 | a0001c0001t0001g0049a0001c0004t0001g0030a0001c0015t0001g0034others(3): Show | 6 | HG02257.hp1 HG02723.hp2 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.5784+298G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670044 | ||||||
| chr2:71670125
|
C | T | 1 | a0001c0002t0002g0172 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5784+379C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670125 | ||||||
| chr2:71670144
|
C | A | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.5784+398C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670144 | ||||||
| chr2:71670147
|
C | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5784+401C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670147 | ||||||
| chr2:71670232
|
C | T | 2 | a0001c0026t0001g0095a0001c0060t0001g0197 | 2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5784+486C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670232 | ||||||
| chr2:71670323
|
T | C | 1 | a0001c0005t0001g0070 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.5784+577T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670323 | ||||||
| chr2:71670552
|
C | T | 2 | a0001c0018t0001g0100a0021c0064t0001g0058 | 2 | HG00438.hp2 HG00738.hp2 |
intron_variant | MODIFIER | c.5784+806C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670552 | ||||||
| chr2:71670802
|
C | T | 1 | a0005c0034t0002g0153 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5784+1056C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670802 | ||||||
| chr2:71670821
|
G | A | 143 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(140): Show | 143 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.5784+1075G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670821 | ||||||
| chr2:71670947
|
G | A | 2 | a0001c0006t0001g0072a0007c0027t0007g0159 | 2 | NA18969.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.5784+1201G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71670947 | ||||||
| chr2:71671203
|
C | T | 1 | a0008c0091t0002g0174 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.5784+1457C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71671203 | ||||||
| chr2:71671809
|
A | G | 2 | a0001c0004t0003g0112a0001c0004t0003g0113 | 2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.5784+2063A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71671809 | ||||||
| chr2:71671975
|
C | A | 150 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(147): Show | 150 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.5785-2222C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71671975 | ||||||
| chr2:71672050
|
C | T | 25 | a0001c0001t0001g0078a0001c0002t0001g0003a0001c0003t0001g0055others(22): Show | 25 | HG00140.hp1 HG00438.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.5785-2147C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672050 | ||||||
| chr2:71672082
|
G | A | 2 | a0001c0009t0008g0196a0001c0012t0001g0208 | 2 | HG01167.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.5785-2115G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672082 | ||||||
| chr2:71672162
|
G | GGGAGACA others(49): Show |
6 | a0001c0001t0003g0059a0001c0004t0003g0112a0001c0004t0003g0113others(3): Show | 6 | HG01099.hp1 HG02109.hp1 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5785-1990_5785-198 others(60): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 71672162 | |||||
| chr2:71672316
|
C | T | 4 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017others(1): Show | 4 | HG01433.hp2 HG01978.hp1 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.5785-1881C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672316 | ||||||
| chr2:71672824
|
G | A | 1 | a0001c0006t0001g0121 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.5785-1373G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672824 | ||||||
| chr2:71672830
|
G | C | 7 | a0001c0010t0005g0091a0001c0052t0004g0021a0009c0029t0005g0084others(4): Show | 7 | HG02818.hp1 HG02922.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.5785-1367G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672830 | ||||||
| chr2:71672831
|
G | C | 15 | a0001c0007t0002g0189a0001c0007t0004g0020a0001c0007t0004g0022others(12): Show | 15 | HG00735.hp1 HG02055.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5785-1366G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672831 | ||||||
| chr2:71672831
|
G | T | 2 | a0001c0001t0001g0049a0001c0067t0001g0083 | 2 | HG02723.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5785-1366G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672831 | ||||||
| chr2:71672878
|
C | T | 3 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017 | 3 | HG01433.hp2 NA18973.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.5785-1319C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672878 | ||||||
| chr2:71672897
|
C | T | 6 | a0001c0010t0005g0091a0009c0029t0005g0084a0018c0041t0001g0118others(3): Show | 6 | HG02818.hp1 HG02922.hp2 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.5785-1300C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672897 | ||||||
| chr2:71672950
|
C | T | 2 | a0001c0089t0001g0024a0003c0043t0001g0116 | 2 | HG02055.hp2 HG02109.hp2 |
intron_variant | MODIFIER | c.5785-1247C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71672950 | ||||||
| chr2:71673085
|
C | G | 1 | a0001c0032t0002g0193 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.5785-1112C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673085 | ||||||
| chr2:71673228
|
C | T | 1 | a0001c0018t0001g0088 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5785-969C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673228 | ||||||
| chr2:71673229
|
G | A | 3 | a0001c0002t0002g0163a0001c0003t0001g0127a0010c0046t0001g0066 | 3 | HG00673.hp1 NA18952.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.5785-968G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673229 | ||||||
| chr2:71673284
|
C | T | 10 | a0001c0001t0001g0105a0001c0001t0001g0129a0001c0002t0001g0067others(7): Show | 10 | HG00642.hp2 HG00738.hp2 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.5785-913C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673284 | ||||||
| chr2:71673555
|
G | A | 108 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(105): Show | 108 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(105): Show |
intron_variant | MODIFIER | c.5785-642G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673555 | ||||||
| chr2:71673674
|
C | T | 1 | a0001c0010t0001g0035 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.5785-523C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673674 | ||||||
| chr2:71673675
|
T | G | 108 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(105): Show | 108 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(105): Show |
intron_variant | MODIFIER | c.5785-522T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673675 | ||||||
| chr2:71673753
|
G | T | 1 | a0001c0001t0001g0108 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.5785-444G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673753 | ||||||
| chr2:71673831
|
C | T | 133 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(130): Show | 133 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.5785-366C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673831 | ||||||
| chr2:71673851
|
AAT | A | 4 | a0001c0026t0001g0095a0001c0060t0001g0197a0018c0041t0001g0118others(1): Show | 4 | HG02280.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5785-345_5785-344d others(4): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673851 | ||||||
| chr2:71673897
|
T | C | 1 | a0001c0025t0001g0012 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5785-300T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71673897 | ||||||
| chr2:71674012
|
G | A | 25 | a0001c0009t0001g0053a0001c0009t0001g0064a0001c0009t0001g0089others(22): Show | 25 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.5785-185G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71674012 | ||||||
| chr2:71674064
|
C | A | 1 | a0001c0003t0001g0043 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5785-133C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71674064 | ||||||
| chr2:71674156
|
C | T | 133 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(130): Show | 133 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.5785-41C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 51/55 | chr2 | 71674156 | ||||||
| chr2:71674302
|
C | T | 1 | a0001c0003t0001g0047 | 1 | NA19088.hp2 | splice_region_variant&intron_variant | LOW | c.5884+6C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674302 | ||||||
| chr2:71674367
|
C | T | 4 | a0001c0074t0001g0094a0001c0085t0001g0029a0004c0011t0001g0081others(1): Show | 4 | HG03041.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.5884+71C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674367 | ||||||
| chr2:71674683
|
C | T | 2 | a0001c0001t0001g0049a0001c0067t0001g0083 | 2 | HG02723.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.5884+387C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674683 | ||||||
| chr2:71674692
|
C | T | 2 | a0001c0001t0003g0059a0001c0047t0003g0145 | 2 | HG02647.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.5884+396C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674692 | ||||||
| chr2:71674734
|
G | C | 111 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(108): Show | 111 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(108): Show |
intron_variant | MODIFIER | c.5884+438G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674734 | ||||||
| chr2:71674753
|
G | A | 2 | a0001c0014t0001g0004a0001c0014t0002g0175 | 2 | HG00642.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.5884+457G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71674753 | ||||||
| chr2:71675098
|
T | C | 4 | a0001c0004t0001g0030a0001c0007t0002g0148a0001c0015t0001g0034others(1): Show | 4 | HG02257.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5884+802T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71675098 | ||||||
| chr2:71675568
|
C | A | 1 | a0001c0002t0002g0172 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5884+1272C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71675568 | ||||||
| chr2:71675576
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5884+1280G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71675576 | ||||||
| chr2:71675906
|
G | A | 24 | a0001c0009t0001g0053a0001c0009t0001g0064a0001c0012t0001g0033others(21): Show | 24 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.5884+1610G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71675906 | ||||||
| chr2:71675916
|
T | C | 5 | a0001c0001t0001g0049a0001c0032t0002g0193a0001c0053t0001g0206others(2): Show | 5 | HG02258.hp2 HG02723.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.5884+1620T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71675916 | ||||||
| chr2:71676071
|
C | T | 1 | a0001c0003t0001g0098 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.5884+1775C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71676071 | ||||||
| chr2:71676160
|
T | A | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5884+1864T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71676160 | ||||||
| chr2:71676172
|
T | G | 4 | a0001c0026t0001g0095a0001c0060t0001g0197a0018c0041t0001g0118others(1): Show | 4 | HG02280.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.5884+1876T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71676172 | ||||||
| chr2:71676324
|
TA | T | 12 | a0001c0009t0001g0053a0001c0009t0001g0064a0001c0014t0001g0004others(9): Show | 12 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(9): Show |
intron_variant | MODIFIER | c.5884+2037delA | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71676324 | |||||
| chr2:71676411
|
G | A | 1 | a0001c0007t0002g0189 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5884+2115G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71676411 | ||||||
| chr2:71676543
|
A | T | 1 | a0002c0075t0001g0138 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.5884+2247A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71676543 | ||||||
| chr2:71676655
|
TACTG | T | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5884+2365_5884+236 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71676655 | |||||
| chr2:71676929
|
A | ATG | 13 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0003g0112others(10): Show | 13 | HG01099.hp1 HG02109.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.5885-2107_5885-210 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71676929 | |||||
| chr2:71676929
|
A | ATGTG | 116 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(113): Show | 116 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.5885-2109_5885-210 others(8): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71676929 | |||||
| chr2:71676929
|
ATG | A | 6 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017others(3): Show | 6 | HG01433.hp2 HG01978.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5885-2107_5885-210 others(6): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71676929 | |||||
| chr2:71677271
|
A | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.5885-1786A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677271 | ||||||
| chr2:71677293
|
T | C | 1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5885-1764T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677293 | ||||||
| chr2:71677365
|
A | G | 3 | a0018c0041t0001g0118a0022c0066t0001g0075a0024c0045t0001g0093 | 3 | HG02922.hp2 HG03195.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.5885-1692A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677365 | ||||||
| chr2:71677514
|
T | C | 2 | a0001c0003t0001g0043a0001c0039t0001g0061 | 2 | HG03710.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.5885-1543T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677514 | ||||||
| chr2:71677657
|
G | GATAATAG others(5): Show |
166 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(163): Show | 166 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(163): Show |
intron_variant | MODIFIER | c.5885-1393_5885-138 others(16): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr2 | 71677657 | |||||
| chr2:71677837
|
G | A | 1 | a0003c0065t0001g0110 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5885-1220G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677837 | ||||||
| chr2:71677869
|
G | A | 4 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017others(1): Show | 4 | HG01433.hp2 HG01978.hp1 NA18973.hp2 others(1): Show |
intron_variant | MODIFIER | c.5885-1188G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71677869 | ||||||
| chr2:71678284
|
A | G | 3 | a0001c0003t0001g0013a0001c0024t0001g0054a0006c0076t0004g0019 | 3 | HG01123.hp2 NA19240.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5885-773A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71678284 | ||||||
| chr2:71678417
|
A | G | 5 | a0001c0007t0001g0139a0001c0010t0001g0041a0001c0052t0004g0021others(2): Show | 5 | HG01109.hp1 HG01261.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.5885-640A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71678417 | ||||||
| chr2:71678632
|
T | C | 37 | a0001c0001t0001g0049a0001c0009t0001g0053a0001c0009t0001g0064others(34): Show | 37 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(34): Show |
intron_variant | MODIFIER | c.5885-425T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71678632 | ||||||
| chr2:71678681
|
T | C | 1 | a0008c0091t0002g0174 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.5885-376T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71678681 | ||||||
| chr2:71678712
|
T | C | 167 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(164): Show | 167 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(164): Show |
intron_variant | MODIFIER | c.5885-345T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71678712 | ||||||
| chr2:71679041
|
T | C | 175 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(172): Show | 175 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(172): Show |
intron_variant | MODIFIER | c.5885-16T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 52/55 | chr2 | 71679041 | ||||||
| chr2:71679308
|
G | A | 6 | a0001c0012t0001g0033a0001c0012t0001g0147a0001c0019t0002g0187others(3): Show | 6 | HG02257.hp2 HG02717.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.6063+73G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679308 | ||||||
| chr2:71679372
|
C | G | 1 | a0001c0079t0001g0068 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.6063+137C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679372 | ||||||
| chr2:71679561
|
C | T | 141 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(138): Show | 141 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(138): Show |
intron_variant | MODIFIER | c.6063+326C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679561 | ||||||
| chr2:71679565
|
G | T | 1 | a0003c0043t0001g0116 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6063+330G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679565 | ||||||
| chr2:71679595
|
T | G | 109 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(106): Show | 109 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(106): Show |
intron_variant | MODIFIER | c.6063+360T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679595 | ||||||
| chr2:71679847
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6063+612G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679847 | ||||||
| chr2:71679930
|
A | G | 4 | a0001c0074t0001g0094a0001c0085t0001g0029a0004c0011t0001g0081others(1): Show | 4 | HG03041.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.6063+695A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679930 | ||||||
| chr2:71679999
|
A | G | 9 | a0001c0001t0001g0037a0001c0001t0001g0082a0001c0001t0001g0119others(6): Show | 9 | HG00735.hp1 HG02055.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.6063+764A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71679999 | ||||||
| chr2:71680019
|
T | C | 155 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(152): Show | 155 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(152): Show |
intron_variant | MODIFIER | c.6063+784T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680019 | ||||||
| chr2:71680232
|
A | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6064-769A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680232 | ||||||
| chr2:71680295
|
A | G | 146 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(143): Show | 146 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(143): Show |
intron_variant | MODIFIER | c.6064-706A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680295 | ||||||
| chr2:71680387
|
A | T | 3 | a0001c0032t0002g0193a0001c0053t0001g0206a0015c0083t0002g0188 | 3 | HG02258.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6064-614A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680387 | ||||||
| chr2:71680488
|
A | C | 1 | a0001c0002t0001g0003 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6064-513A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680488 | ||||||
| chr2:71680612
|
C | G | 46 | a0001c0001t0003g0059a0001c0003t0001g0043a0001c0004t0003g0112others(43): Show | 46 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.6064-389C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680612 | ||||||
| chr2:71680728
|
A | G | 4 | a0001c0074t0001g0094a0001c0085t0001g0029a0004c0011t0001g0081others(1): Show | 4 | HG03041.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.6064-273A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680728 | ||||||
| chr2:71680767
|
G | A | 5 | a0001c0001t0002g0179a0001c0002t0001g0046a0001c0002t0001g0073others(2): Show | 5 | HG00544.hp1 NA18946.hp2 NA18962.hp2 others(2): Show |
intron_variant | MODIFIER | c.6064-234G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680767 | ||||||
| chr2:71680800
|
G | T | 162 | a0001c0001t0001g0037a0001c0001t0001g0049a0001c0001t0001g0078others(159): Show | 162 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(159): Show |
intron_variant | MODIFIER | c.6064-201G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680800 | ||||||
| chr2:71680805
|
G | A | 3 | a0001c0002t0001g0099a0001c0002t0001g0102a0001c0002t0002g0182 | 3 | HG00544.hp2 HG00558.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.6064-196G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680805 | ||||||
| chr2:71680817
|
T | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0037t0001g0044others(2): Show | 5 | HG02809.hp2 HG03098.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.6064-184T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680817 | ||||||
| chr2:71680850
|
A | G | 5 | a0001c0032t0002g0193a0001c0053t0001g0206a0015c0083t0002g0188others(2): Show | 5 | HG02258.hp2 HG02922.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.6064-151A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 53/55 | chr2 | 71680850 | ||||||
| chr2:71681177
|
A | G | 2 | a0001c0010t0001g0041a0004c0011t0001g0146 | 2 | HG01109.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.6173+67A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681177 | ||||||
| chr2:71681342
|
T | C | 26 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0108others(23): Show | 26 | HG00558.hp1 HG01175.hp1 HG02074.hp2 others(23): Show |
intron_variant | MODIFIER | c.6173+232T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681342 | ||||||
| chr2:71681506
|
G | C | 1 | a0001c0002t0001g0046 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.6173+396G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681506 | ||||||
| chr2:71681656
|
C | T | 1 | a0002c0023t0001g0123 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.6173+546C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681656 | ||||||
| chr2:71681688
|
C | T | 3 | a0001c0032t0002g0193a0001c0053t0001g0206a0015c0083t0002g0188 | 3 | HG02258.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6173+578C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681688 | ||||||
| chr2:71681851
|
C | T | 2 | a0001c0009t0008g0196a0001c0012t0001g0208 | 2 | HG01167.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.6174-679C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71681851 | ||||||
| chr2:71682020
|
A | G | 4 | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(1): Show | 4 | HG01099.hp1 HG02109.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6174-510A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682020 | ||||||
| chr2:71682233
|
T | C | 28 | a0001c0001t0001g0049a0001c0001t0001g0135a0001c0001t0003g0059others(25): Show | 28 | HG01099.hp1 HG01167.hp1 HG02109.hp1 others(25): Show |
intron_variant | MODIFIER | c.6174-297T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682233 | ||||||
| chr2:71682289
|
G | T | 2 | a0001c0001t0001g0137a0013c0054t0002g0169 | 2 | HG03710.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.6174-241G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682289 | ||||||
| chr2:71682307
|
G | C | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6174-223G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682307 | ||||||
| chr2:71682447
|
T | A | 12 | a0001c0001t0002g0154a0001c0001t0002g0194a0001c0002t0001g0017others(9): Show | 12 | HG01433.hp2 HG01884.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.6174-83T>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682447 | ||||||
| chr2:71682453
|
C | T | 1 | a0020c0062t0001g0045 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6174-77C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 54/55 | chr2 | 71682453 | ||||||
| chr2:71682692
|
C | T | 24 | a0001c0003t0001g0043a0001c0009t0001g0053a0001c0009t0001g0064others(21): Show | 24 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.6321+15C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71682692 | ||||||
| chr2:71682737
|
A | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6321+60A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71682737 | ||||||
| chr2:71683395
|
C | T | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6321+718C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683395 | ||||||
| chr2:71683567
|
A | G | 4 | a0001c0074t0001g0094a0001c0085t0001g0029a0004c0011t0001g0081others(1): Show | 4 | HG03041.hp1 HG03139.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.6321+890A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683567 | ||||||
| chr2:71683643
|
G | A | 10 | a0001c0001t0003g0059a0001c0004t0003g0112a0001c0004t0003g0113others(7): Show | 10 | HG01099.hp1 HG02109.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.6321+966G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683643 | ||||||
| chr2:71683687
|
C | G | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6321+1010C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683687 | ||||||
| chr2:71683731
|
A | C | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6321+1054A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683731 | ||||||
| chr2:71683764
|
G | C | 6 | a0001c0001t0001g0106a0001c0003t0001g0006a0001c0003t0001g0007others(3): Show | 6 | HG00735.hp2 HG01074.hp2 HG01934.hp2 others(3): Show |
intron_variant | MODIFIER | c.6321+1087G>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683764 | ||||||
| chr2:71683792
|
C | T | 2 | a0001c0003t0001g0043a0020c0062t0001g0045 | 2 | HG02630.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.6321+1115C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683792 | ||||||
| chr2:71683910
|
A | G | 2 | a0001c0010t0001g0041a0004c0011t0001g0146 | 2 | HG01109.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.6321+1233A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71683910 | ||||||
| chr2:71683927
|
T | TC | 168 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(165): Show | 168 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(165): Show |
intron_variant | MODIFIER | c.6321+1251dupC | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr2 | 71683927 | |||||
| chr2:71684060
|
T | G | 1 | a0021c0064t0001g0058 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.6321+1383T>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684060 | ||||||
| chr2:71684239
|
A | C | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6321+1562A>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684239 | ||||||
| chr2:71684269
|
G | T | 2 | a0001c0009t0008g0196a0001c0012t0001g0208 | 2 | HG01167.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.6321+1592G>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684269 | ||||||
| chr2:71684362
|
C | G | 1 | a0001c0074t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6321+1685C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684362 | ||||||
| chr2:71684377
|
T | C | 3 | a0001c0032t0002g0193a0001c0053t0001g0206a0015c0083t0002g0188 | 3 | HG02258.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6321+1700T>C | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684377 | ||||||
| chr2:71684396
|
C | T | 105 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0078others(102): Show | 105 | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.6321+1719C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684396 | ||||||
| chr2:71684867
|
A | T | 21 | a0001c0009t0001g0053a0001c0009t0001g0064a0001c0009t0001g0089others(18): Show | 21 | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(18): Show |
intron_variant | MODIFIER | c.6322-1587A>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71684867 | ||||||
| chr2:71684970
|
AG | A | 5 | a0001c0016t0001g0026a0001c0016t0001g0027a0001c0037t0001g0044others(2): Show | 5 | HG02809.hp2 HG03098.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.6322-1480delG | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr2 | 71684970 | |||||
| chr2:71685105
|
G | A | 2 | a0018c0041t0001g0118a0024c0045t0001g0093 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.6322-1349G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685105 | ||||||
| chr2:71685128
|
G | A | 1 | a0001c0039t0001g0061 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.6322-1326G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685128 | ||||||
| chr2:71685239
|
C | T | 4 | a0001c0001t0001g0049a0001c0001t0001g0135a0001c0006t0003g0204others(1): Show | 4 | HG02630.hp2 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.6322-1215C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685239 | ||||||
| chr2:71685244
|
A | G | 3 | a0001c0009t0008g0196a0001c0012t0001g0208a0001c0039t0001g0061 | 3 | HG01167.hp1 HG03579.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.6322-1210A>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685244 | ||||||
| chr2:71685303
|
C | G | 2 | a0001c0026t0001g0095a0001c0060t0001g0197 | 2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.6322-1151C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685303 | ||||||
| chr2:71685507
|
C | A | 130 | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0049others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.6322-947C>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685507 | ||||||
| chr2:71685782
|
C | T | 2 | a0001c0001t0003g0059a0001c0047t0003g0145 | 2 | HG02647.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.6322-672C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685782 | ||||||
| chr2:71685950
|
C | T | 5 | a0001c0001t0001g0002a0001c0001t0001g0108a0001c0001t0002g0184others(2): Show | 5 | HG02165.hp2 NA18612.hp2 NA18963.hp2 others(2): Show |
intron_variant | MODIFIER | c.6322-504C>T | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685950 | ||||||
| chr2:71685963
|
C | G | 1 | a0002c0021t0002g0149 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.6322-491C>G | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71685963 | ||||||
| chr2:71686417
|
G | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | HG00738.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.6322-37G>A | DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 55/55 | chr2 | 71686417 |