Table 1. Recurrent mutations and recurrently mutated genes seen in three or more libraries.
List of genes with recurrent or more than one non-synonymous change. Sixteen tumour and matched normal exomes were sequenced and SNV calls were annotated. Novel non-synonymous mutations were identified by filtering against the normal pileup and dbSNP129. All mutations were manually curated using the IGV browser.
| Gene | Chr | Position | Sample(s) | Nucleotide (cDNA) |
Amino Acid |
|---|---|---|---|---|---|
| IDH1 | 2 | 208821357 | HS1893, HS2040, HS2042, HS2805, HS2806, HS2807, HS2808, HS2809, HS2810, HS2811, HS2812, HS2813, HS2815, HS3124 | c. 395 C > T | p.R132H |
| CIC | 19 | 47483558 | HS2040 | c.604 C > T | p.R202W |
| CIC | 19 | 47483100 | HS2814 | c.142 G > A | p.G107E |
| CIC | 19 | 47488171 | HS2813 | c.2980 C > T | p.Q994* |
| CIC | 19 | 47483598 | HS2815 | c.644 G > A | p.R215Q |
| CIC | 19 | 47483690 | HS2810 | c.736 A > G | p.K246E |
| CIC | 19 | 47490900 | HS2045 | c.4544 G > T | p.R1515L |
| CIC | 19 | 47490900 | HS3124 | c.4544 G > A | p.R1515H |
| CIC | 19 | 47483580 | HS2805 | c.626 T > G | p.I209S |
| CIC | 19 | 47483653–47483655 | HS2807 | DEL:CCT | |
| CIC | 19 | 47486863–47486864 | HS2806 | DEL:AA | |
| CIC | 19 | 47490858-47490858 | HS2814 | INS:A | |
| NOTCH1 | 9 | 138528889 | HS2805, HS2811 | c.2101 T > G | p.T701P |
| NOTCH1 | 9 | 138532470 | HS2811 | c.1195 T > G | p.T399P |
| NOTCH1 | 9 | 138522244 | HS3124 | c.3494 C > T | p.G1165D |
| NOTCH1 | 9 | 138532105–138532107 | HS2814 | DEL:TTG | |
| IDH2 | 15 | 88432842 | HS2045, HS2814 | c.515 C > T | p.R172K |
| PCDH8 | 13 | 52318741 | HS2805, HS2811 | c.1832 T > G | p.H611P |