The amino acid transversions due to missense mutations are displayed in Table 4.
Type and distribution of all detected mutations are displayed in Table 2.
For each tumour, somatic mutations are displayed as intermutational distance (IMD) plots (top left), as described in Figure 1B.
A recent study with the same BRCA1/2 panel was tested in a diagnostics laboratory with high accuracy [ 47].> -wrap-foot> All known publications using Ion Torrent sequencing instruments to sequence known BRCA1 and BRCA2 mutations are displayed.
All mutations are displayed together since we detected no statistical significant difference between the adenoma and CRC case groups in relation to frequency and mutational spectra (data not shown).
For each mutation, annotations are displayed, such as the affected gene, the position in the genome, the type (for example, substitution), the effect (for example, missense or intron), and the influence on the protein sequence (for example, p.Y58F means, that the Tyrosine residue at position 58 is substituted by a Phenylalanine).
Detailed results for each individual mutation set are displayed in Table 5. > The ROC plots and AUC show an improvement in >45% of families with the 5% mutated dataset and the improvement goes up to 58.0% with the 15% mutated dataset.
After submission, a result list is displayed, including mutation ID, mutation description on genome level, mutation description on cDNA level, mutation description on protein level, mutation type, mutation effect, associated diseases and PubMed IDs.
Each individual mutation in Kin-Driver is displayed with its validation status ('activating'inactivatinging' or 'unknown'), the mutation type (missense, insertion, deletion, nonsense, frameshift or indel), its absolute and relative frequencies in human tumors and the PubMed reference describing that particular mutation as activating/inactivating.
The genomic sequence of the wild-type sequence surrounding the detected mutation on chromosome 19 is displayed.
