Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 294 | 103 | 15 | 17 | 43 | 4 | 24 | 33 | SMN2_chr5_70044669_70082595 | SMN2 | MAMSS others(289): Show |
chr5 | 70044669 | 70082595 |
| a0002 | 0/0 | 278 | 3 | 0 | 3 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | MAMSS others(273): Show |
chr5 | 70044669 | 70082595 |
| a0003 | 0/0 | 294 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | MAMSS others(289): Show |
chr5 | 70044669 | 70082595 |
| a0004 | 0/0 | 294 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | MAMSS others(289): Show |
chr5 | 70044669 | 70082595 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 882 | 81 | 14 | 11 | 37 | 3 | 16 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0001c0002 | 0/0 | 882 | 16 | 1 | 3 | 6 | 0 | 6 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0001c0003 | 0/0 | 882 | 4 | 0 | 2 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0001c0007 | 0/0 | 882 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0001c0008 | 0/0 | 882 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0002c0004 | 0/0 | 834 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(829): Show |
chr5 | 70044669 | 70082595 | ||
| a0003c0005 | 0/0 | 882 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 | ||
| a0004c0006 | 0/0 | 882 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | ATGGC others(877): Show |
chr5 | 70044669 | 70082595 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1482 | 79 | 13 | 10 | 37 | 3 | 16 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0001c0001t0003 | 0/0 | 1482 | 2 | 1 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCATC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0001c0002t0001 | 0/0 | 1482 | 16 | 1 | 3 | 6 | 0 | 6 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0001c0003t0001 | 0/0 | 1482 | 4 | 0 | 2 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0001c0007t0001 | 0/0 | 1482 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0001c0008t0001 | 0/0 | 1482 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0002c0004t0002 | 0/0 | 851 | 3 | 0 | 3 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(846): Show |
chr5 | 70044669 | 70082595 |
| a0003c0005t0001 | 0/0 | 1482 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| a0004c0006t0001 | 0/0 | 1482 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | GCACC others(1477): Show |
chr5 | 70044669 | 70082595 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | 2 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0005 | 0/0 | 3 | 0 | 1 | 0 | 0 | 2 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 1 | 0 | 1 | 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 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0022 | 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 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 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 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0039 | 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 | 0 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 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 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0003g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0001t0003g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0009 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | 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 |
| a0001c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0027 | 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 | 0 | 0 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 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 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0002t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0003t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0007t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0001c0008t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0002c0004t0002g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0002c0004t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0003c0005t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| a0004c0006t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 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 | t0001 | g0032 | EUR | GBR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | GBR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | 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 | a0002 | c0004 | t0002 | g0010 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01074 | hp2 | a0001 | c0007 | t0001 | g0012 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01109 | hp1 | a0001 | c0001 | t0003 | g0091 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01169 | hp1 | a0001 | c0002 | t0001 | g0063 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01169 | hp2 | a0001 | c0002 | t0001 | g0066 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01175 | hp1 | a0002 | c0004 | t0002 | g0010 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01175 | hp2 | a0001 | c0003 | t0001 | g0080 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01192 | hp1 | a0001 | c0003 | t0001 | g0081 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01192 | hp2 | a0002 | c0004 | t0002 | g0078 | AMR | PUR | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01517 | hp1 | a0001 | c0008 | t0001 | g0011 | EUR | IBS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0079 | EUR | IBS | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0053 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG01952 | hp1 | a0001 | c0002 | t0001 | g0086 | 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 | g0042 | 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 | g0020 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | KHV | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02257 | hp1 | a0001 | c0002 | t0001 | g0009 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02280 | hp2 | a0003 | c0005 | t0001 | g0058 | AFR | ACB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0049 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0045 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | PEL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02723 | hp1 | a0001 | c0001 | t0003 | g0090 | AFR | GWD | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02738 | hp1 | a0001 | c0003 | t0001 | g0083 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0062 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0014 | 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 | g0015 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0005 | 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 | g0009 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0047 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0037 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0061 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0076 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0029 | SAS | PJL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0031 | SAS | BEB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03834 | hp2 | a0001 | c0002 | t0001 | g0060 | SAS | BEB | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0016 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04199 | hp2 | a0001 | c0003 | t0001 | g0087 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0041 | SAS | STU | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0040 | 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 | g0017 | 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 | g0023 | 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 | g0084 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0085 | 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 | c0001 | t0001 | g0071 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0043 | 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 | g0069 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA18981 | hp2 | a0001 | c0002 | t0001 | g0027 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0075 | 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 | c0001 | t0001 | g0051 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19009 | hp2 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | LWK | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | LWK | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19056 | hp1 | a0004 | c0006 | t0001 | g0052 | 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 | g0070 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19075 | hp2 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19079 | hp1 | a0001 | c0002 | t0001 | g0024 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0048 | 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 | g0004 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0082 | 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 | g0004 | EAS | JPT | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0064 | SAS | GIH | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0077 | SAS | GIH | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | MSL | SMN2_chr5_70044669_70082595 | SMN2 | chr5 | 70044669 | 70082595 |
| view | 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 | a0004 | 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 | a0002 | 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 |
| view | 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 | a0001c0003 | 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 | a0001c0008 | 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 | 6 | a0001c0001 a0001c0003 a0001c0007 others(3): 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 | a0001c0007 a0003c0005 |
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 | a0001c0001 a0001c0002 a0001c0007 others(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 |
| view | 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 | 1 | a0001c0001t0003 | 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 | a0001c0001t0001 | 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 | a0001c0001t0001 | 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 | 1 | a0001c0001t0003 | 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 | 6 | a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): 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 |
| view | 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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0089 | 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 | a0001c0001t0001g0088 | 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 | a0001c0008t0001g0011 | 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 | a0001c0003t0001g0087 | 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 | a0001c0001t0001g0013 a0001c0007t0001g0012 |
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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0013 | 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 | a0001c0002t0001g0086 | 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 | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0002t0001g0084 others(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 | a0001c0001t0001g0079 a0002c0004t0002g0010 a0002c0004t0002g0078 |
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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(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 | a0001c0001t0001g0006 a0001c0001t0001g0075 a0001c0001t0001g0076 others(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 | a0001c0001t0001g0017 | 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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(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 | a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0089 others(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 | a0001c0001t0001g0074 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0001t0001g0073 |
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 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(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 | a0001c0001t0001g0026 a0001c0002t0001g0027 |
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 | a0001c0001t0001g0085 a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0035 | 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 | 69 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(66): 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0036 | 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 | 75 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(72): 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 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0075 | 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 | a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0085 |
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 | 66 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(63): 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 | a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0088 |
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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 others(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 | a0001c0001t0001g0085 | 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 | a0001c0003t0001g0080 a0001c0003t0001g0081 |
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 | a0001c0002t0001g0066 | 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 | a0001c0002t0001g0024 a0001c0002t0001g0065 |
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 | a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0003t0001g0080 others(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 | a0001c0001t0001g0085 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0033 others(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 | a0001c0001t0001g0040 | 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 | 74 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(71): 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 | a0001c0001t0001g0041 | 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 | a0001c0001t0001g0028 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 others(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 | a0001c0003t0001g0087 | 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 | ||||||
| chr5:70060315 | C | T | 1 | a0001c0001t0001g0022 | 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 | a0001c0001t0001g0038 | 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 | a0001c0001t0001g0085 | 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 | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0035 others(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 | 53 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): 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 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0088 | 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 | a0001c0001t0001g0033 | 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 | a0001c0001t0003g0090 | 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 | 14 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0016 others(11): 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | 17 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(14): 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 | 51 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(48): 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 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0037 others(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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0003g0090 others(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 | a0001c0001t0001g0035 | 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 | 59 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(56): 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0002t0001g0061 | 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 | a0001c0001t0003g0091 | 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 | 75 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(72): 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 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0021 | 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 | a0001c0001t0001g0013 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0047 |
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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 others(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 | a0001c0001t0001g0039 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 others(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 | a0001c0001t0001g0079 | 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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 others(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 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0003g0090 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0089 a0001c0001t0003g0090 |
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 | a0001c0001t0001g0038 | 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 | a0001c0001t0001g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 |
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 | a0003c0005t0001g0058 | 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 | a0001c0001t0001g0040 | 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 | 20 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(17): 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 | a0001c0001t0001g0013 | 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 | a0001c0001t0001g0013 | 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 | a0002c0004t0002g0078 | 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 | 2 | a0001c0002t0001g0009 a0001c0002t0001g0062 |
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 | a0001c0001t0001g0089 | 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 | 65 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(62): 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0017 | 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 | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): 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 | a0001c0007t0001g0012 | 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 | a0001c0001t0003g0091 | 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 | a0001c0001t0001g0036 | 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 | a0001c0002t0001g0024 a0001c0002t0001g0065 |
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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0001t0001g0038 | 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 | a0001c0001t0001g0047 | 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 | a0001c0001t0001g0089 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0038 others(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 | 4 | a0001c0002t0001g0009 a0001c0002t0001g0062 a0001c0002t0001g0064 others(1): 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 | a0001c0001t0001g0040 a0001c0001t0001g0076 |
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 | a0001c0001t0003g0090 | 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 | 63 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(60): 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 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0088 others(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 | a0001c0001t0001g0071 a0001c0002t0001g0027 a0001c0002t0001g0060 others(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 | 44 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): 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 | a0001c0001t0001g0046 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0082 others(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 | a0001c0001t0001g0030 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 others(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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(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 | a0001c0001t0001g0034 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0082 |
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 | 62 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): 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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0088 | 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 | a0001c0003t0001g0080 | 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 | 53 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): 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 | a0001c0001t0001g0031 | 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 | a0001c0007t0001g0012 a0003c0005t0001g0058 |
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 | a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 others(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 | a0001c0007t0001g0012 a0003c0005t0001g0058 |
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 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(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 | a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 others(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 | a0001c0001t0001g0088 a0001c0001t0003g0091 |
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 | a0001c0002t0001g0009 a0001c0002t0001g0062 |
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 | a0001c0003t0001g0083 | 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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0053 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0019 | 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 | a0001c0001t0003g0091 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0022 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0033 | 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 | 22 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0035 others(19): 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0035 | 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 | a0001c0001t0001g0043 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0008t0001g0011 | 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 | a0001c0001t0003g0090 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(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 | a0001c0002t0001g0060 | 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 | a0001c0001t0001g0017 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(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 |