Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 6607 |
|---|---|
| ensemblid | ENSG00000205571.15 |
| hgncid | 11118 |
| symbol | SMN2 |
| name | survival of motor neuron 2, centromeric |
| refseq_nuc | NM_017411.4 |
| refseq_prot | NP_059107.1 |
| ensembl_nuc | ENST00000380743.9 |
| ensembl_prot | ENSP00000370119.4 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 70049669 |
| end | 70077595 |
| strand | + |
| ver | v1.2 |
| region | chr5:70049669-70077595 |
| region5000 | chr5:70044669-70082595 |
| regionname0 | SMN2_chr5_70049669_70077595 |
| regionname5000 | SMN2_chr5_70044669_70082595 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000 | 0/0 | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001 | 0/0 | 294 | 103 | 15 | 17 | 43 | 4 | 24 | 33 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0002 | 0/0 | 294 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0003 | 0/0 | 294 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 885 | 67 | 10 | 8 | 33 | 2 | 14 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0002 | 0/0 | 885 | 15 | 1 | 3 | 5 | 0 | 6 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0003 | 0/0 | 885 | 14 | 4 | 3 | 4 | 1 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0004 | 0/0 | 885 | 4 | 0 | 2 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0005 | 0/0 | 834 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0006 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0007 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0008 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0009 | 0/0 | 885 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| c0010 | 0/0 | 885 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 598 | 84 | 10 | 14 | 37 | 2 | 21 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| t0002 | 0/0 | 598 | 16 | 5 | 2 | 6 | 1 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| t0003 | 0/0 | 18 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| t0004 | 0/0 | 598 | 2 | 0 | 0 | 0 | 1 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| t0005 | 0/0 | 596 | 2 | 1 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| t0006 | 0/0 | 598 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 4 | 0 | 1 | 2 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0002 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0004 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0005 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0007 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005 | 0/0 | 834 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0001 | 0/0 | 885 | 67 | 10 | 8 | 33 | 2 | 14 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0002 | 0/0 | 885 | 15 | 1 | 3 | 5 | 0 | 6 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0003 | 0/0 | 885 | 14 | 4 | 3 | 4 | 1 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0004 | 0/0 | 885 | 4 | 0 | 2 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0008 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0009 | 0/0 | 885 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0010 | 0/0 | 885 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0002c0007 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0003c0006 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005t0003 | 0/0 | 851 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0001t0001 | 0/0 | 1482 | 63 | 9 | 8 | 32 | 1 | 13 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0001t0004 | 0/0 | 1482 | 2 | 0 | 0 | 0 | 1 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0001t0005 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0001t0006 | 0/0 | 1482 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0002t0001 | 0/0 | 1482 | 15 | 1 | 3 | 5 | 0 | 6 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0003t0001 | 0/0 | 1482 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0003t0002 | 0/0 | 1482 | 12 | 4 | 1 | 4 | 1 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0003t0005 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0004t0001 | 0/0 | 1482 | 4 | 0 | 2 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0008t0002 | 0/0 | 1482 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0009t0002 | 0/0 | 1482 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0001c0010t0001 | 0/0 | 1482 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0002c0007t0002 | 0/0 | 1482 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| a0003c0006t0002 | 0/0 | 1482 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | copy fasta | chr5 | 70044669 | 70082595 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005t0003g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0000c0005t0003g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0001 | 0/0 | 4 | 0 | 1 | 2 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0002 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0004 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0005 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0004g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0004g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0005g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0006g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0007 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0005g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0004t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0004t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0004t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0004t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0008t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0009t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0010t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0002c0007t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0003c0006t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0004 | g0031 | EUR | GBR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00140 | hp2 | a0001 | c0003 | t0002 | g0007 | EUR | GBR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0032 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00621 | hp1 | a0001 | c0001 | t0006 | g0027 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01070 | hp1 | a0001 | c0003 | t0002 | g0007 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01074 | hp1 | a0000 | c0005 | t0003 | g0009 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01074 | hp2 | a0001 | c0009 | t0002 | g0011 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01109 | hp1 | a0001 | c0003 | t0005 | g0093 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0018 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01169 | hp1 | a0001 | c0002 | t0001 | g0065 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01169 | hp2 | a0001 | c0002 | t0001 | g0068 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01175 | hp1 | a0000 | c0005 | t0003 | g0009 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01175 | hp2 | a0001 | c0004 | t0001 | g0082 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01192 | hp1 | a0001 | c0004 | t0001 | g0083 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01192 | hp2 | a0000 | c0005 | t0003 | g0080 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01517 | hp1 | a0001 | c0010 | t0001 | g0010 | EUR | IBS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0081 | EUR | IBS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01891 | hp1 | a0001 | c0003 | t0002 | g0053 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01952 | hp1 | a0001 | c0002 | t0001 | g0088 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02257 | hp1 | a0001 | c0002 | t0001 | g0060 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02280 | hp2 | a0003 | c0006 | t0002 | g0058 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0048 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0044 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02300 | hp2 | a0001 | c0003 | t0001 | g0052 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02723 | hp1 | a0001 | c0001 | t0005 | g0092 | AFR | GWD | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | GWD | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02738 | hp1 | a0001 | c0004 | t0001 | g0085 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0064 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03209 | hp2 | a0001 | c0003 | t0002 | g0075 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0061 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03669 | hp1 | a0001 | c0001 | t0004 | g0046 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0036 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0063 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03704 | hp1 | a0001 | c0003 | t0002 | g0078 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0028 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | BEB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03834 | hp2 | a0001 | c0002 | t0001 | g0062 | SAS | BEB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04199 | hp2 | a0001 | c0004 | t0001 | g0089 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04204 | hp2 | a0001 | c0003 | t0002 | g0039 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18943 | hp1 | a0001 | c0002 | t0001 | g0022 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18948 | hp1 | a0001 | c0002 | t0001 | g0086 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18967 | hp2 | a0001 | c0003 | t0002 | g0073 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18971 | hp1 | a0001 | c0003 | t0002 | g0021 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18981 | hp2 | a0001 | c0008 | t0002 | g0026 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19003 | hp1 | a0001 | c0003 | t0002 | g0034 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19005 | hp2 | a0001 | c0003 | t0002 | g0050 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19009 | hp2 | a0001 | c0002 | t0001 | g0067 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19030 | hp1 | a0001 | c0003 | t0002 | g0024 | AFR | LWK | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | LWK | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19056 | hp1 | a0002 | c0007 | t0002 | g0051 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19079 | hp1 | a0001 | c0002 | t0001 | g0023 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19089 | hp1 | a0001 | c0002 | t0001 | g0059 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0066 | SAS | GIH | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0079 | SAS | GIH | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03471 | hp2 | a0001 | c0003 | t0002 | g0074 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70049701
|
G | A | 1 | a0003 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.16G>A | p.Gly6Ser | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/9 | 33/1482 | 16/885 | 6/294 | chr5 | 70049701 | ||
| chr5:70066076
|
T | A | 1 | a0002 | 1 | NA19056.hp1 | missense_variant | MODERATE | c.265T>A | p.Leu89Ile | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/9 | 282/1482 | 265/885 | 89/294 | chr5 | 70066076 | ||
| chr5:70072861
|
GCCTGTAA others(6303): Show |
G | 1 | a0000 | 3 | HG01074.hp1 HG01175.hp1 HG01192.hp2 |
exon_loss_variant | HIGH | c.834+2111_*2156del | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/9 | chr5 | 70072861 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70063417
|
C | T | 1 | a0001c0004 | 4 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(1): Show |
splice_region_variant&synonymous_variant | LOW | c.84C>T | p.Ser28Ser | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/9 | 101/1482 | 84/885 | 28/294 | chr5 | 70063417 | ||
| chr5:70067089
|
C | T | 1 | a0001c0010 | 1 | HG01517.hp1 | synonymous_variant | LOW | c.429C>T | p.Ser143Ser | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 4/9 | 446/1482 | 429/885 | 143/294 | chr5 | 70067089 | ||
| chr5:70067122
|
A | G | 7 | a0000c0005a0001c0001a0001c0003others(4): Show | 91 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(88): Show |
synonymous_variant | LOW | c.462A>G | p.Gln154Gln | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 4/9 | 479/1482 | 462/885 | 154/294 | chr5 | 70067122 | ||
| chr5:70067437
|
A | G | 2 | a0001c0009a0003c0006 | 2 | HG01074.hp2 HG02280.hp2 |
synonymous_variant | LOW | c.618A>G | p.Gly206Gly | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/9 | 635/1482 | 618/885 | 206/294 | chr5 | 70067437 | ||
| chr5:70076526
|
T | C | 5 | a0001c0003a0001c0008a0001c0009others(2): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(15): Show |
synonymous_variant | LOW | c.840T>C | p.Phe280Phe | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/9 | 857/1482 | 840/885 | 280/294 | chr5 | 70076526 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70049672
|
C | T | 2 | a0001c0001t0005a0001c0003t0005 | 2 | HG01109.hp1 HG02723.hp1 |
5_prime_UTR_variant | MODIFIER | c.-14C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/9 | 14 | chr5 | 70049672 | |||||
| chr5:70077147
|
A | C | 1 | a0001c0001t0006 | 1 | HG00621.hp1 | 3_prime_UTR_variant | MODIFIER | c.*132A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 9/9 | 576 | chr5 | 70077147 | |||||
| chr5:70077173
|
G | A | 1 | a0001c0001t0004 | 2 | HG00140.hp1 HG03669.hp1 |
3_prime_UTR_variant | MODIFIER | c.*158G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 9/9 | 602 | chr5 | 70077173 | |||||
| chr5:70077224
|
CTA | C | 2 | a0001c0001t0005a0001c0003t0005 | 2 | HG01109.hp1 HG02723.hp1 |
3_prime_UTR_variant | MODIFIER | c.*211_*212delAT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 9/9 | 655 | INFO_REALIGN_3_PRIME | chr5 | 70077224 | ||||
| chr5:70077254
|
A | G | 7 | a0001c0001t0005a0001c0003t0002a0001c0003t0005others(4): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*239A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 9/9 | 683 | chr5 | 70077254 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70049811
|
C | T | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+45C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70049811 | ||||||
| chr5:70050438
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.81+672C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70050438 | ||||||
| chr5:70050452
|
C | T | 1 | a0001c0001t0001g0090 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.81+686C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70050452 | ||||||
| chr5:70050719
|
T | G | 1 | a0001c0010t0001g0010 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.81+953T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70050719 | ||||||
| chr5:70050746
|
A | G | 1 | a0001c0004t0001g0089 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.81+980A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70050746 | ||||||
| chr5:70050856
|
C | CAAAT | 2 | a0001c0001t0001g0012a0001c0009t0002g0011 | 2 | HG01074.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.81+1117_81+1120dup others(4): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70050856 | |||||
| chr5:70050856
|
CAAAT | C | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+1117_81+1120del others(4): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70050856 | |||||
| chr5:70050995
|
C | T | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+1229C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70050995 | ||||||
| chr5:70051180
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.81+1414C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70051180 | ||||||
| chr5:70051263
|
C | G | 1 | a0001c0002t0001g0088 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.81+1497C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70051263 | ||||||
| chr5:70052190
|
CA | C | 6 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0002t0001g0086others(3): Show | 6 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.81+2439delA | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052190 | |||||
| chr5:70052202
|
AAAAG | A | 3 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0081 | 4 | HG01074.hp1 HG01175.hp1 HG01192.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+2441_81+2444del others(4): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052202 | |||||
| chr5:70052266
|
G | A | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+2500G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70052266 | ||||||
| chr5:70052542
|
T | TA | 8 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(5): Show | 8 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+2795dupA | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052542 | |||||
| chr5:70052542
|
TA | T | 5 | a0001c0001t0001g0005a0001c0001t0001g0077a0001c0002t0001g0079others(2): Show | 7 | HG01074.hp2 HG03209.hp1 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+2795delA | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052542 | |||||
| chr5:70052856
|
T | A | 1 | a0001c0001t0001g0016 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.81+3090T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70052856 | ||||||
| chr5:70052878
|
C | T | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+3112C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70052878 | ||||||
| chr5:70052881
|
C | CA | 11 | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0018others(8): Show | 11 | HG01074.hp2 HG01109.hp2 HG02135.hp1 others(8): Show |
intron_variant | MODIFIER | c.81+3135dupA | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052881 | |||||
| chr5:70052881
|
C | CAA | 6 | a0001c0001t0001g0013a0001c0001t0001g0084a0001c0001t0001g0091others(3): Show | 6 | HG00741.hp2 HG01175.hp2 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.81+3134_81+3135dup others(2): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70052881 | |||||
| chr5:70053192
|
G | T | 1 | a0001c0001t0001g0076 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.81+3426G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053192 | ||||||
| chr5:70053279
|
C | T | 3 | a0001c0003t0002g0024a0001c0003t0002g0074a0001c0003t0002g0075 | 3 | HG03209.hp2 HG03471.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+3513C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053279 | ||||||
| chr5:70053726
|
CT | C | 15 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0002others(12): Show | 20 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(17): Show |
intron_variant | MODIFIER | c.81+3967delT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70053726 | |||||
| chr5:70053733
|
T | C | 2 | a0001c0001t0001g0025a0001c0008t0002g0026 | 2 | HG02280.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.81+3967T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053733 | ||||||
| chr5:70053734
|
C | T | 3 | a0001c0001t0001g0087a0001c0001t0005g0092a0001c0003t0005g0093 | 3 | HG01109.hp1 HG02723.hp1 NA18965.hp2 |
intron_variant | MODIFIER | c.81+3968C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053734 | ||||||
| chr5:70053892
|
T | G | 1 | a0001c0003t0002g0034 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.81+4126T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053892 | ||||||
| chr5:70053985
|
CT | C | 70 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(67): Show | 85 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.81+4237delT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70053985 | |||||
| chr5:70053994
|
T | C | 8 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(5): Show | 8 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+4228T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70053994 | ||||||
| chr5:70054238
|
C | T | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.81+4472C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70054238 | ||||||
| chr5:70054418
|
T | C | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.81+4652T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70054418 | ||||||
| chr5:70054456
|
TA | T | 76 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(73): Show | 91 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.81+4694delA | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70054456 | |||||
| chr5:70054821
|
C | A | 4 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0038others(1): Show | 4 | HG00741.hp1 HG02257.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+5055C>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70054821 | ||||||
| chr5:70055167
|
G | A | 1 | a0001c0001t0001g0077 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.81+5401G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055167 | ||||||
| chr5:70055503
|
T | A | 2 | a0001c0001t0005g0092a0001c0003t0005g0093 | 2 | HG01109.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.81+5737T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055503 | ||||||
| chr5:70055649
|
A | C | 7 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084others(4): Show | 7 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+5883A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055649 | ||||||
| chr5:70055801
|
T | TG | 2 | a0001c0001t0001g0012a0001c0001t0001g0087 | 2 | NA18965.hp1 NA18965.hp2 |
intron_variant | MODIFIER | c.81+6035_81+6036ins others(1): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055801 | ||||||
| chr5:70055803
|
T | G | 67 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(64): Show | 82 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.81+6037T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055803 | ||||||
| chr5:70055807
|
G | GT | 3 | a0001c0001t0001g0008a0001c0001t0001g0057a0001c0001t0001g0090 | 4 | HG01891.hp2 HG02071.hp1 HG02074.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+6053dupT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70055807 | |||||
| chr5:70055813
|
T | G | 7 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084others(4): Show | 7 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+6047T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055813 | ||||||
| chr5:70055884
|
A | G | 1 | a0001c0001t0001g0087 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.81+6118A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70055884 | ||||||
| chr5:70056210
|
G | A | 2 | a0001c0004t0001g0082a0001c0004t0001g0083 | 2 | HG01175.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.81+6444G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70056210 | ||||||
| chr5:70056503
|
A | G | 1 | a0001c0002t0001g0068 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.81+6737A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70056503 | ||||||
| chr5:70056725
|
A | G | 2 | a0001c0002t0001g0023a0001c0002t0001g0067 | 2 | NA19009.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.82-6690A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70056725 | ||||||
| chr5:70057309
|
A | G | 5 | a0001c0001t0001g0014a0001c0001t0001g0084a0001c0004t0001g0082others(2): Show | 5 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-6106A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70057309 | ||||||
| chr5:70057365
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.82-6050G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70057365 | ||||||
| chr5:70057417
|
A | G | 1 | a0001c0001t0001g0056 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.82-5998A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70057417 | ||||||
| chr5:70057842
|
T | C | 43 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(40): Show | 53 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.82-5573T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70057842 | ||||||
| chr5:70058206
|
G | GT | 6 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0032others(3): Show | 6 | HG00597.hp1 HG00597.hp2 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.82-5197dupT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70058206 | |||||
| chr5:70058754
|
T | A | 1 | a0001c0003t0002g0039 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.82-4661T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70058754 | ||||||
| chr5:70059146
|
A | G | 75 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(72): Show | 90 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.82-4269A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70059146 | ||||||
| chr5:70059284
|
T | C | 1 | a0001c0001t0001g0040 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.82-4131T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70059284 | ||||||
| chr5:70059746
|
T | C | 1 | a0001c0001t0006g0027 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.82-3669T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70059746 | ||||||
| chr5:70059795
|
T | A | 7 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084others(4): Show | 7 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-3620T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70059795 | ||||||
| chr5:70059811
|
A | ACTGCAAT others(10): Show |
1 | a0001c0004t0001g0089 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.82-3600_82-3584dup others(17): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70059811 | |||||
| chr5:70060258
|
A | G | 93 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(90): Show | 108 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.82-3157A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70060258 | ||||||
| chr5:70060315
|
C | T | 1 | a0001c0003t0002g0021 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.82-3100C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70060315 | ||||||
| chr5:70060383
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.82-3032T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70060383 | ||||||
| chr5:70060522
|
A | G | 1 | a0001c0001t0001g0087 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.82-2893A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70060522 | ||||||
| chr5:70060727
|
C | CTTTTT | 5 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0038others(2): Show | 5 | HG00741.hp1 HG02135.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.82-2676_82-2672dup others(5): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060727
|
C | CTTTTTT | 54 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(51): Show | 68 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.82-2677_82-2672dup others(6): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060727
|
C | CTTTTTTT | 10 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0014others(7): Show | 11 | HG01192.hp1 HG02071.hp1 HG02074.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-2678_82-2672dup others(7): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060727
|
C | CTTTTTTT others(5): Show |
1 | a0001c0001t0001g0090 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.82-2683_82-2672dup others(12): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060727
|
C | CTTTTTTT others(3655): Show |
1 | a0001c0001t0001g0032 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(3662): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060727
|
C | CTTTTTTT others(30): Show |
1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(37): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70060727 | |||||
| chr5:70060859
|
G | A | 15 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0006others(12): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-2556G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70060859 | ||||||
| chr5:70061188
|
T | TG | 10 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(7): Show | 10 | HG00741.hp2 HG01175.hp2 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.82-2227_82-2226ins others(1): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061188 | ||||||
| chr5:70061189
|
T | G | 18 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(15): Show | 18 | HG00741.hp1 HG00741.hp2 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.82-2226T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061189 | ||||||
| chr5:70061189
|
T | TG | 52 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(49): Show | 67 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.82-2221dupG | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70061189 | |||||
| chr5:70061189
|
T | TTG | 7 | a0001c0001t0001g0019a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 7 | HG02135.hp1 HG02257.hp2 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.82-2226_82-2225ins others(2): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061189 | ||||||
| chr5:70061190
|
G | T | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.82-2225G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061190 | ||||||
| chr5:70061195
|
T | G | 7 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0038others(4): Show | 7 | HG00741.hp1 HG02257.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.82-2220T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061195 | ||||||
| chr5:70061213
|
G | T | 4 | a0001c0001t0001g0045a0001c0001t0001g0090a0001c0001t0005g0092others(1): Show | 4 | HG01109.hp1 HG01891.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-2202G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061213 | ||||||
| chr5:70061380
|
G | T | 1 | a0001c0003t0002g0034 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.82-2035G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061380 | ||||||
| chr5:70061418
|
C | G | 60 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(57): Show | 75 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(72): Show |
intron_variant | MODIFIER | c.82-1997C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061418 | ||||||
| chr5:70061682
|
G | A | 15 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(12): Show | 15 | HG00741.hp1 HG01074.hp2 HG01175.hp2 others(12): Show |
intron_variant | MODIFIER | c.82-1733G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061682 | ||||||
| chr5:70061708
|
A | G | 1 | a0001c0002t0001g0063 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.82-1707A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061708 | ||||||
| chr5:70061912
|
C | T | 1 | a0001c0003t0005g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.82-1503C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70061912 | ||||||
| chr5:70062778
|
A | G | 76 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(73): Show | 91 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.82-637A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70062778 | ||||||
| chr5:70062935
|
G | A | 4 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0038others(1): Show | 4 | HG00741.hp1 HG02257.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-480G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70062935 | ||||||
| chr5:70062945
|
A | T | 1 | a0001c0001t0001g0020 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.82-470A>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70062945 | ||||||
| chr5:70063207
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.82-208C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70063207 | ||||||
| chr5:70063315
|
A | C | 2 | a0001c0001t0004g0031a0001c0001t0004g0046 | 2 | HG00140.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.82-100A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | chr5 | 70063315 | ||||||
| chr5:70063997
|
G | C | 8 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084others(5): Show | 8 | HG00741.hp2 HG01175.hp2 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.153+511G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/8 | chr5 | 70063997 | ||||||
| chr5:70064193
|
G | T | 9 | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 9 | HG00741.hp1 HG01074.hp2 HG01109.hp1 others(6): Show |
intron_variant | MODIFIER | c.153+707G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/8 | chr5 | 70064193 | ||||||
| chr5:70064504
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.153+1018T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/8 | chr5 | 70064504 | ||||||
| chr5:70064916
|
G | C | 7 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084others(4): Show | 7 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.154-1049G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/8 | chr5 | 70064916 | ||||||
| chr5:70065673
|
A | G | 1 | a0001c0001t0001g0081 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.154-292A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2/8 | chr5 | 70065673 | ||||||
| chr5:70066197
|
C | A | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.273+113C>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | chr5 | 70066197 | ||||||
| chr5:70066415
|
A | AT | 7 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(4): Show | 7 | HG02135.hp2 HG02300.hp1 NA18980.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+340dupT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | 70066415 | |||||
| chr5:70066453
|
G | A | 4 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0005g0092others(1): Show | 4 | HG00741.hp2 HG01109.hp1 HG01891.hp2 others(1): Show |
intron_variant | MODIFIER | c.273+369G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | chr5 | 70066453 | ||||||
| chr5:70066583
|
T | C | 8 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(5): Show | 8 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.274-351T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | chr5 | 70066583 | ||||||
| chr5:70066869
|
G | A | 2 | a0001c0001t0001g0091a0001c0001t0005g0092 | 2 | HG00741.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.274-65G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | chr5 | 70066869 | ||||||
| chr5:70066915
|
T | A | 1 | a0001c0001t0001g0037 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.274-19T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 3/8 | chr5 | 70066915 | ||||||
| chr5:70067538
|
T | C | 3 | a0001c0001t0001g0090a0001c0001t0005g0092a0001c0003t0005g0093 | 3 | HG01109.hp1 HG01891.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.627+92T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067538 | ||||||
| chr5:70067703
|
A | C | 1 | a0003c0006t0002g0058 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.627+257A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067703 | ||||||
| chr5:70067740
|
C | T | 1 | a0001c0003t0002g0039 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.627+294C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067740 | ||||||
| chr5:70067890
|
C | T | 21 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(18): Show | 23 | HG00140.hp2 HG00597.hp1 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.627+444C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067890 | ||||||
| chr5:70067894
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.627+448C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067894 | ||||||
| chr5:70067895
|
A | G | 1 | a0001c0001t0001g0012 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.627+449A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067895 | ||||||
| chr5:70067926
|
G | A | 1 | a0000c0005t0003g0080 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.627+480G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70067926 | ||||||
| chr5:70068043
|
CAAAA | C | 3 | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0064 | 3 | HG02257.hp1 HG02738.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.627+602_627+605del others(4): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | 70068043 | |||||
| chr5:70068169
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.627+723G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70068169 | ||||||
| chr5:70068367
|
AT | A | 66 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(63): Show | 81 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.628-853delT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | 70068367 | |||||
| chr5:70068367
|
ATT | A | 9 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(6): Show | 9 | HG00741.hp2 HG01175.hp2 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.628-854_628-853del others(2): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | 70068367 | |||||
| chr5:70068611
|
C | G | 1 | a0001c0001t0001g0016 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.628-624C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70068611 | ||||||
| chr5:70068778
|
A | G | 78 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(75): Show | 93 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.628-457A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70068778 | ||||||
| chr5:70068811
|
G | C | 1 | a0001c0009t0002g0011 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.628-424G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70068811 | ||||||
| chr5:70068935
|
A | G | 1 | a0001c0003t0005g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.628-300A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70068935 | ||||||
| chr5:70069043
|
T | A | 1 | a0001c0001t0001g0035 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.628-192T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70069043 | ||||||
| chr5:70069072
|
TG | T | 2 | a0001c0002t0001g0023a0001c0002t0001g0067 | 2 | NA19009.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.628-162delG | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | 70069072 | ||||||
| chr5:70069389
|
G | C | 8 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(5): Show | 8 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.723+59G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | chr5 | 70069389 | ||||||
| chr5:70069642
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.723+312C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | chr5 | 70069642 | ||||||
| chr5:70069720
|
T | G | 1 | a0001c0001t0004g0046 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.723+390T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | chr5 | 70069720 | ||||||
| chr5:70069819
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.723+489C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | chr5 | 70069819 | ||||||
| chr5:70070148
|
C | CTG | 18 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0045others(15): Show | 19 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.724-467_724-466dup others(2): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | 70070148 | |||||
| chr5:70070587
|
C | T | 5 | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0064others(2): Show | 5 | HG01952.hp1 HG02257.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.724-54C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 6/8 | chr5 | 70070587 | ||||||
| chr5:70070846
|
A | G | 2 | a0001c0003t0002g0039a0001c0003t0002g0078 | 2 | HG03704.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.834+95A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70070846 | ||||||
| chr5:70070878
|
A | G | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.834+127A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70070878 | ||||||
| chr5:70071088
|
CT | C | 64 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(61): Show | 79 | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.834+359delT | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70071088 | |||||
| chr5:70071088
|
CTT | C | 6 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0090others(3): Show | 6 | HG01109.hp1 HG01891.hp2 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.834+358_834+359del others(2): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70071088 | |||||
| chr5:70071183
|
C | T | 4 | a0001c0002t0001g0062a0001c0002t0001g0063a0001c0003t0002g0073others(1): Show | 4 | HG03688.hp2 HG03834.hp2 NA18967.hp2 others(1): Show |
intron_variant | MODIFIER | c.834+432C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071183 | ||||||
| chr5:70071236
|
G | T | 45 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(42): Show | 59 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(56): Show |
intron_variant | MODIFIER | c.834+485G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071236 | ||||||
| chr5:70071385
|
T | G | 1 | a0001c0001t0001g0045 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.834+634T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071385 | ||||||
| chr5:70071516
|
A | T | 5 | a0001c0001t0001g0013a0001c0001t0001g0036a0001c0001t0001g0084others(2): Show | 5 | HG00741.hp2 HG01074.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.834+765A>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071516 | ||||||
| chr5:70071520
|
T | A | 1 | a0001c0001t0001g0029 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.834+769T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071520 | ||||||
| chr5:70071521
|
T | A | 6 | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0002t0001g0068others(3): Show | 6 | HG00597.hp2 HG01169.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.834+770T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071521 | ||||||
| chr5:70071524
|
T | A | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.834+773T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071524 | ||||||
| chr5:70071751
|
G | A | 13 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(10): Show | 18 | HG02071.hp1 HG02074.hp2 HG02135.hp2 others(15): Show |
intron_variant | MODIFIER | c.834+1000G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071751 | ||||||
| chr5:70071915
|
G | C | 1 | a0001c0001t0001g0033 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.834+1164G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70071915 | ||||||
| chr5:70072013
|
T | C | 3 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0084 | 3 | HG03225.hp2 HG03239.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.834+1262T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072013 | ||||||
| chr5:70072257
|
A | G | 63 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(60): Show | 77 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.834+1506A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072257 | ||||||
| chr5:70072319
|
G | A | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.834+1568G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072319 | ||||||
| chr5:70072379
|
A | G | 1 | a0001c0001t0001g0090 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.834+1628A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072379 | ||||||
| chr5:70072451
|
G | A | 1 | a0001c0004t0001g0082 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.834+1700G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072451 | ||||||
| chr5:70072502
|
G | A | 54 | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(51): Show | 68 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.834+1751G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072502 | ||||||
| chr5:70072700
|
C | T | 1 | a0001c0001t0001g0030 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.834+1949C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072700 | ||||||
| chr5:70072725
|
T | G | 2 | a0001c0009t0002g0011a0003c0006t0002g0058 | 2 | HG01074.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.834+1974T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072725 | ||||||
| chr5:70072744
|
A | G | 4 | a0001c0004t0001g0082a0001c0004t0001g0083a0001c0004t0001g0085others(1): Show | 4 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.834+1993A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072744 | ||||||
| chr5:70072870
|
C | G | 2 | a0001c0009t0002g0011a0003c0006t0002g0058 | 2 | HG01074.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.834+2119C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072870 | ||||||
| chr5:70072890
|
G | A | 22 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020others(19): Show | 23 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.834+2139G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072890 | ||||||
| chr5:70072988
|
G | C | 4 | a0001c0004t0001g0082a0001c0004t0001g0083a0001c0004t0001g0085others(1): Show | 4 | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.834+2237G>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70072988 | ||||||
| chr5:70073078
|
T | C | 2 | a0001c0001t0001g0090a0001c0003t0005g0093 | 2 | HG01109.hp1 HG01891.hp2 |
intron_variant | MODIFIER | c.834+2327T>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70073078 | ||||||
| chr5:70073084
|
C | G | 2 | a0001c0002t0001g0061a0001c0002t0001g0064 | 2 | HG02738.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.834+2333C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70073084 | ||||||
| chr5:70073111
|
C | T | 1 | a0001c0004t0001g0085 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.834+2360C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70073111 | ||||||
| chr5:70073641
|
T | G | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.835-2880T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70073641 | ||||||
| chr5:70074624
|
C | T | 13 | a0001c0001t0001g0054a0001c0002t0001g0060a0001c0003t0001g0052others(10): Show | 14 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.835-1897C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074624 | ||||||
| chr5:70074747
|
C | G | 28 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(25): Show | 36 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(33): Show |
intron_variant | MODIFIER | c.835-1774C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074747 | ||||||
| chr5:70074764
|
A | G | 12 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(9): Show | 13 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.835-1757A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074764 | ||||||
| chr5:70074767
|
C | T | 12 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(9): Show | 13 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.835-1754C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074767 | ||||||
| chr5:70074897
|
C | A | 1 | a0001c0003t0002g0053 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.835-1624C>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074897 | ||||||
| chr5:70074904
|
A | G | 12 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(9): Show | 13 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.835-1617A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074904 | ||||||
| chr5:70074915
|
C | T | 12 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(9): Show | 13 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(10): Show |
intron_variant | MODIFIER | c.835-1606C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074915 | ||||||
| chr5:70074952
|
A | G | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.835-1569A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70074952 | ||||||
| chr5:70075068
|
A | G | 17 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(14): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.835-1453A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075068 | ||||||
| chr5:70075104
|
C | G | 1 | a0001c0001t0001g0018 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.835-1417C>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075104 | ||||||
| chr5:70075226
|
T | G | 1 | a0001c0003t0005g0093 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.835-1295T>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075226 | ||||||
| chr5:70075236
|
G | T | 9 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(6): Show | 10 | HG00140.hp2 HG01070.hp1 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.835-1285G>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075236 | ||||||
| chr5:70075275
|
G | A | 1 | a0001c0003t0002g0021 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.835-1246G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075275 | ||||||
| chr5:70075541
|
A | G | 15 | a0001c0001t0001g0054a0001c0003t0001g0052a0001c0003t0002g0007others(12): Show | 16 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.835-980A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075541 | ||||||
| chr5:70075590
|
C | T | 1 | a0001c0001t0001g0032 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.835-931C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075590 | ||||||
| chr5:70075612
|
TGCAAG | T | 23 | a0001c0001t0001g0054a0001c0002t0001g0060a0001c0002t0001g0061others(20): Show | 24 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(21): Show |
intron_variant | MODIFIER | c.835-900_835-896del others(5): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70075612 | |||||
| chr5:70075672
|
C | A | 16 | a0001c0001t0001g0054a0001c0001t0005g0092a0001c0003t0001g0052others(13): Show | 17 | HG00140.hp2 HG01070.hp1 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.835-849C>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075672 | ||||||
| chr5:70075672
|
C | T | 1 | a0001c0003t0002g0034 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.835-849C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075672 | ||||||
| chr5:70075865
|
T | A | 1 | a0001c0001t0001g0042 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.835-656T>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075865 | ||||||
| chr5:70075972
|
A | G | 18 | a0001c0001t0005g0092a0001c0003t0001g0052a0001c0003t0002g0007others(15): Show | 19 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.835-549A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70075972 | ||||||
| chr5:70076043
|
C | T | 17 | a0001c0003t0001g0052a0001c0003t0002g0007a0001c0003t0002g0021others(14): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.835-478C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076043 | ||||||
| chr5:70076116
|
A | C | 1 | a0001c0010t0001g0010 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.835-405A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076116 | ||||||
| chr5:70076134
|
C | T | 1 | a0001c0001t0005g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.835-387C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076134 | ||||||
| chr5:70076154
|
C | A | 58 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(55): Show | 71 | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(68): Show |
intron_variant | MODIFIER | c.835-367C>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076154 | ||||||
| chr5:70076181
|
A | C | 1 | a0001c0002t0001g0062 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.835-340A>C | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076181 | ||||||
| chr5:70076218
|
A | G | 1 | a0001c0001t0001g0016 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.835-303A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076218 | ||||||
| chr5:70076261
|
C | T | 11 | a0001c0003t0001g0052a0001c0003t0002g0007a0001c0003t0002g0021others(8): Show | 12 | HG00140.hp2 HG01070.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.835-260C>T | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076261 | ||||||
| chr5:70076477
|
A | G | 17 | a0001c0003t0001g0052a0001c0003t0002g0007a0001c0003t0002g0021others(14): Show | 18 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(15): Show |
intron_variant | MODIFIER | c.835-44A>G | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | chr5 | 70076477 | ||||||
| chr5:70076674
|
G | A | 14 | a0001c0003t0001g0052a0001c0003t0002g0007a0001c0003t0002g0021others(11): Show | 15 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(12): Show |
intron_variant | MODIFIER | c.*3+100G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/8 | chr5 | 70076674 | ||||||
| chr5:70076789
|
G | A | 18 | a0001c0001t0005g0092a0001c0003t0001g0052a0001c0003t0002g0007others(15): Show | 19 | HG00140.hp2 HG01070.hp1 HG01074.hp2 others(16): Show |
intron_variant | MODIFIER | c.*3+215G>A | SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/8 | chr5 | 70076789 |