Table 4.
List of 10 nonsynonymous variants
| Gene | Exon | HGVS | Passed filters | SIFT | PolyPhen2 | Mutation-Taster | Mutation-Assessor | FATHMM | Radial-SVM | Reliability index | GERP++ RS | PhyloP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RIT1 | 2 | c.31G>C | 2 | 0.51 | NA | 1.00 | NA | 0.41 | 0.23 | 5.00 | –0.38 | –0.36 |
| KAT6B | 18 | c.4943C>G | 6 | 0.99 | NA | 1.00 | NA | NA | NA | NA | 5.54 | 2.59 |
| KMT2D | 39 | c.11592C>A | 1 | 1.00 | 0.00 | 0.00 | 0.51 | 0.37 | 0.25 | 10.00 | –2.33 | –0.20 |
| KMT2D | 34 | c.9832C>A | 2 | 1.00 | 0.68 | 0.11 | 0.48 | 0.44 | 0.38 | 9.00 | 4.82 | 2.69 |
| PTPN11 | 5 | c.565T>G | 3 | 0.87 | 0.23 | 1.00 | 0.76 | 0.45 | 0.51 | 5.00 | 5.65 | 2.14 |
| PTPN11 | 5 | c.591T>G | 4 | 0.00 | NA | 1.00 | NA | NA | 0.26 | NA | 1.81 | 0.33 |
| NF1 | 7 | c.663G>T | 5 | 1.00 | 1.00 | 1.00 | 0.68 | 0.45 | 0.57 | 10.00 | 5.91 | 2.79 |
| OMG | 2 | c.62G>A | 1 | 0.98 | 0.01 | 0.94 | 0.55 | 0.39 | 0.23 | 9.00 | 3.15 | 1.31 |
| EVI2B | 2 | c.317C>A | 2 | 0.98 | 0.37 | 0.00 | 0.66 | 0.37 | 0.29 | 10.00 | –5.68 | –0.92 |
| KDM6A | 15 | c.1524C>A | 1 | 0.77 | 0.00 | 1.00 | 0.49 | 0.31 | 0.23 | 5.00 | 3.53 | 1.28 |
Cells with NA values correspond to missing data because there are no results computed for the variants by the corresponding prediction programs. HGVS = Human Genome Variation Society.