Table 3. Known bladder cancer-driver mutations and other mutations in genes fulfilling the filtering criteria for further analysis.
| Tumour no. | Chr | Position (B37) | Gene | Details | LOH |
|---|---|---|---|---|---|
| 709 | 1 | 27,099,037 | ARID1A | NM_006015:c.3453_3454insA:p.S1151fs | 0 |
| 3008 | 1 | 27,106,378 | ARID1A | NM_006015:c.A5989G:p.N1997D | 1 |
| 635 | 1 | 237,765,394 | RYR2 | NM_001035:c.G4666C:p.E1556Q | 0 |
| 3034 | 1 | 237,791,238 | RYR2 | NM_001035:c.C6298T:p.R2100W | 0 |
| 2010 | 1 | 237,947,202 | RYR2 | NM_001035:c.G12190A:p.E4064K | 0 |
| 4070 | 4 | 1,803,568 | FGFR3 | NM_000142:c.C746G:p.S249C | 0 |
| 4121 | 4 | 1,803,568 | FGFR3 | NM_000142:c.C746G:p.S249C | 0 |
| 615 | 4 | 1,803,568 | FGFR3 | NM_000142:c.C746G:p.S249C | 0 |
| 4078 | 4 | 1,806,099 | FGFR3 | NM_000142:c.A1118G:p.Y373C | 1 |
| 3010 | 4 | 1,806,099 | FGFR3 | NM_000142:c.A1118G:p.Y373C | 1 |
| 4101 | 4 | 1,806,153 | FGFR3 | NM_000142:c.C1172A:p.A391E | 0 |
| 4078 | 4 | 187,522,477 | FAT1 | NM_005245:c.T11586A:p.Y3862X | 1 |
| 451 | 4 | 187,542,642 | FAT1 | NM_005245:c.G5098T:p.E1700X | 0 |
| 3034 | 6 | 36,652,054 | CDKN1A | NM_000389:c.176_177insG:p.L59fs | 0 |
| 745 | 6 | 36,652,071 | CDKN1A | NM_000389:c.T193A:p.W65R | 1 |
| 2010 | 9 | 21,974,695 | CDKN2A | NM_000077:c.132_133insA:p.Y44_G45delinsX | 1 |
| 4062 | 9 | 135,776,983 | TSC1 | NM_001162427:c.C2342T:p.S781F | 1 |
| 4062 | 9 | 135,781,212 | TSC1 | NM_001162427:c.C1600G:p.P534A | 1 |
| 4062 | 9 | 135,781,386 | TSC1 | NM_001162427:c.C1426G:p.Q476E | 1 |
| 3008 | 9 | 135,781,446 | TSC1 | NM_001162427:c.1365delC:p.P455fs | 1 |
| 4062 | 12 | 49,427,530 | MLL2 | NM_003482:c.G10958C:p.G3653A | 0 |
| 4062 | 12 | 49,427,912 | MLL2 | NM_003482:c.G10678A:p.D3560N | 0 |
| 4121 | 12 | 49,431,499 | MLL2 | NM_003482:c.G9640C:p.E3214Q | 0 |
| 4121 | 12 | 49,431,871 | MLL2 | NM_003482:c.G9268C:p.E3090Q | 0 |
| 4121 | 12 | 49,431,937 | MLL2 | NM_003482:c.G9202A:p.E3068K | 0 |
| 4101 | 12 | 49,434,561 | MLL2 | NM_003482:c.6991delC:p.L2331X | 0 |
| 4101 | 12 | 49,438,067 | MLL2 | NM_003482:c.C5104T:p.R1702X | 0 |
| 451 | 12 | 49,439,934 | MLL2 | NM_003482:c.4607_4608insA:p.S1536fs | 0 |
| 451 | 12 | 49,445,797 | MLL2 | NM_003482:c.1668delG:p.P556fs | 0 |
| 3008 | 15 | 33,261,489 | FMN1 | NM_001103184:c.G1744A:p.V582I | 0 |
| 3034 | 15 | 33,359,823 | FMN1 | NM_001103184:c.C263T:p.S88L | 1 |
| 615 | 16 | 67,183,392 | B3GNT9 | NM_033309:c.C997T:p.H333Y | 0 |
| 615 | 16 | 67,183,539 | B3GNT9 | NM_033309:c.C850G:p.P284A | 0 |
| 745 | 16 | 67,184,036 | B3GNT9 | NM_033309:c.T353A:p.L118Q | 1 |
| 3010 | 17 | 7,577,094 | TP53 | NM_001126115:c.C448T:p.R150W | 1 |
| 2010 | 17 | 7,577,127 | TP53 | NM_001126115:c.G415A:p.E139K | 1 |
| 799 | 17 | 7,578,395 | TP53 | NM_001126115:c.C139T:p.H47Y | 0 |
| 799 | 17 | 7,578,475 | TP53 | NM_001126115:c.C59T:p.P20L | 0 |
| 615 | 18 | 10,784,798 | PIEZO2 | NM_022068:c.G2476C:p.D826H | 0 |
| 4070 | 18 | 11,066,210 | PIEZO2 | NM_022068:c.C76T:p.R26X | — |
| 615 | X | 44,820,628 | KDM6A | NM_021140:c.326_329del:p.109_110del | — |
| 4070 | X | 44,922,729 | KDM6A | NM_021140:c.1591_1606del:p.531_536del | — |
| 3034 | X | 44,941,984 | KDM6A | NM_021140:c.3234_3235insT:p.P1078fs | — |
| 4078 | X | 44,942,842 | KDM6A | NM_021140:c.3422_3423insC:p.S1141fs | — |
| 799 | X | 44,949,105 | KDM6A | NM_021140:c.3666_3667insG:p.A1222fs | — |
| 4101 | X | 123,196,821 | STAG2 | NM_006603:c.1709delC:p.A570fs | — |
| 451 | X | 123,200,065 | STAG2 | NM_006603:c.2137_2138insA:p.Y713_K714delinsX | — |
| 3010 | X | 123,202,462 | STAG2 | NM_006603:c.T2314C:p.C772R | — |
Chr, chromosome; LOH, loss of heterozyosity.
The details of the mutations are shown as: reference transcript: DNA change: protein change. For LOH: 1, present; 0, absent.