| values | doc |
|---|
| flank5 | 5' flanking sequence. |
| UTR5 | 5' untranslated region. |
| splice-site | Splice site mutation. |
| IGR | Intergenic region. |
| nonstop | Nonstop mutation. |
| missense | Missense (amino acid changing) mutation. |
| flank3 | 3' flanking sequence. |
| frame-shift-del | Frame-shift deletion. |
| intron | Intronic variant. |
| RNA | RNA variant. |
| nonsense | Nonsense (stop-gain) mutation. |
| targeted-region | Within targeted region for sequencing. |
| in-frame-del | In-frame deletion. |
| in-frame-ins | In-frame insertion. |
| silent | Silent (synonymous) variant. |
| transl-start-site | Translation start site variant. |
| splice-region | Splice region variant. |
| frame-shift-ins | Frame-shift insertion. |
| UTR3 | 3' untranslated region. |