Table 20. DNA variants annotated by each mutation extraction tool, using all the sources from the articles, tool grouped by type.
The type of each variant has been annotated using SETH, thus the variant types delivered by SETH are considered. The tools are Extractor of Mutations (EMU), OpenMutationMiner (OMM), MutationFinder (MF), tmVar and SNP Extraction Tool for Human Variations (SETH). A large number of DNA mutations are annotated by EMU. 1887448 of the COSMIC variants are substitutions derived from the supplementary material of a single article, PMID:22622578. Most of these substitutions are provided in terms of chromosome location rather than relative to the gene.
| Tool | Type | Frequency
(COSMIC) |
Frequency
(InSiGHT) |
|---|---|---|---|
| EMU | All
SUBSTITUTION DELETION UNKNOWN INSERTION DELETION_INSERTION |
1914828
1914100 405 186 133 4 |
182
172 - 7 3 - |
| OMM | - | - | - |
| MF | - | - | - |
| SETH | All
SUBSTITUTION DELETION UNKNOWN DUPLICATION |
9029
8212 673 113 31 |
58
25 22 0 11 |
| tmVar | All
SUBSTITUTION DELETION UNKNOWN DUPLICATION |
1864
1065 464 313 22 |
135
113 12 10 0 |