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