Research Article
Classification of Cancer Primary Sites Using Machine Learning and Somatic Mutations
Table 2
Mutation description.
| Mutation description | Definition |
| Substitution | A mutation involving the substitution of a single nucleotide | Substitution-nonsense | A substitution mutation resulting in a termination codon, foreshortening the translated peptide | Substitution-missense | A substitution mutation resulting in an alternate codon, altering the amino acid at this position only | Substitution-coding silent | A synonymous substitution mutation which encodes the same amino acid as the wild type codon | Substitution-intronic | A substitution mutation outside the coding domains; no interpretation is made as to its effect on splice sites or nearby regulatory regions | Insertion | An insertion of novel sequence into the gene | Insertion-in frame | An insertion of nucleotides which does not affect the gene’s translation frame, leaving the downstream peptide sequence intact | Insertion-frameshift | An insertion of novel sequence which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination) | Deletion | A deletion of a portion of the gene’s sequence | Deletion-in frame | A deletion of nucleotides which does not affect the gene’s translation frame, leaving the downstream peptide sequence intact | Deletion-frameshift | A deletion of nucleotides which alters the translation frame, changing the downstream peptide sequence (often resulting in premature termination) | Complex | A compound mutation which may involve multiple insertions, deletions, and substitutions |
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