Table 2.
Chrom | Occurring gene | SNV position | CHASM score | P-value | Ref | Alt | Amino acids | Codons | SIFT score | PolyPhen score |
---|---|---|---|---|---|---|---|---|---|---|
1 | PTPRC | 198711494 | 0.158 | 6.00E-04 | G | A | E/K | Gag/Aag | Deleterious (0) | probably_damaging (0.999) |
8 | TNKS | 9413850 | 0.162 | 6.00E-04 | C | T | S/F | tCc/tTc | Deleterious (0.01) | Unknown (0) |
X | GRIA3 | 122319694 | 0.298 | 0.0119 | C | A | F/L | ttC/ttA | Deleterious (0) | probably_damaging (0.996) |
5 | PCDHB14 | 140604126 | 0.308 | 0.0134 | C | T | S/L | tCg/tTg | Deleterious (0.02) | Benign (0.368) |
X | HUWE1 | 53644041 | 0.31 | 0.0136 | C | A | R/L | cGa/cTa | Deleterious (0) | probably_damaging (1) |
17 | NFE2L1 | 46136186 | 0.326 | 0.0175 | C | T | S/F | tCc/tTc | Deleterious (0.01) | probably_damaging (0.994) |
9 | NAIF1 | 130829249 | 0.336 | 0.0204 | C | G | K/N | aaG/aaC | Deleterious (0) | probably_damaging (0.995) |
2 | KLHL23 | 170592167 | 0.354 | 0.0251 | C | G | R/G | Cga/Gga | Deleterious (0) | probably_damaging (0.999) |
12 | KCNA1 | 5021107 | 0.384 | 0.0406 | C | T | T/M | aCg/aTg | Deleterious (0) | probably_damaging (0.997) |
The CHASM score is defined as the fraction of trees in the Random Forest that voted for the mutation being classified as a passenger. Lower scores increase the confidence of driver mutations. P-values are calculated based on the null score distribution. The table reports also the changes in the related codons and amino acids. The SIFT and PolyPhen scores refer to the prediction of whether an amino acid substitution affects the function and structure of the human proteins. The SIFT prediction is based on the degree of conservation of amino acid residues in sequence alignments derived from closely related sequences (lower scores represent high impacts), whereas the PolyPhen prediction uses physical and evolutionary comparative considerations (higher scores represent high impact and severe influence on the protein function and structure).