Table 3 List of variants likely to be the driver variants
From: Molecular profiling of basal cell carcinomas in young patients
Patient | Tumor | Gene | Mutation | % of reads | Classification | gnomAD |
|---|---|---|---|---|---|---|
P1 | 7111 12 | PTCH1 | c.3261dup | 11.6% of 1537 | Tier 1 | – |
p.(Ala1088Argfs*57) | ||||||
PTCH1 | c.1347 + 1G > A | 14.1% of 978 | Tier 1 | – | ||
P2 | 10539 13 | PTCH1 | c.413_429dup | 25.8% of 538 | Tier 1 | – |
p.(Arg144Valfs*3) | ||||||
P3 | 656 09 | PTCH1 | c.3499_3500delinsAA | 30.4% of 1281 | Tier 1 | – |
p.(Gly1167Lys) | ||||||
P4 | 9219 17 | PTCH1 | c.310dupG | 51.3% of 3118 | Tier 1 | – |
p.(Val104Glufs*36) | ||||||
8608 17 | PTCH1 | c.310dupG | 63.8% of 2933 | Tier 1 | – | |
p.(Val104Glufs*36) | ||||||
P5 | 3496 15 | ASXL1 | c.2893C > T | 18.7% of 2578 | Tier 2 | 1.19E-05 |
p.(Arg965*) | ||||||
P6 | 6028 04 | PTCH1 | c.1011G > A | 44.3% of 1509 | Tier 1 | – |
p.(Trp337*) | ||||||
TP53 | c.535C > T | 27.9% of 1665 | Tier 2 | – | ||
p.(His179Tyr) | ||||||
P7 | 7493 07 | SMO | c.1604G > T | 19.5% of 1592 | Tier 2 | – |
p.(Trp535Leu) | ||||||
P9 | 1833 07 | PTCH1 | c.3499G > A | 15.5% of 1033 | Tier 1 | – |
p.(Gly1167Arg) | ||||||
TP53 | c.524G > A | 14.1% of 997 | Tier 2 | 3.98E-06 | ||
p.(Arg175His) | ||||||
P10 | 1124 15 | PTCH1 | c.2917C > T | 35% of 940 | Tier 1 | – |
p.(Gln973*) | ||||||
P11 | 3480 15 | PTCH1 | c.1223_1225delinsTTT p.(His408_Gln409delinsLeu*) | 13.7% of 831 | Tier 1 | – |
P13 | 4707 07 | PTCH1 | c.2560_2560 + 1delinsAA | 17.5% of 1993 | Tier 1 | – |
TP53 | c.948_949delinsTT | 17.2% of 3057 | Tier 2 | – | ||
p.(Gln317*) | ||||||
P14 | 8579 10 | TP53 | c.1024C > T | 18.3% of 1561 | Tier 2 | – |
p.(Arg342*) | ||||||
P15 | 12702 15 | SMO | c.1604G > T | 26.2% of 1231 | Tier 2 | – |
p.(Trp535Leu) | ||||||
15012 15 | PTCH1 | c.394_394 + 1delinsAA | 28.8% of 1147 | Tier 1 | – | |
P18 | 11975 16 | PTCH1 | c.2208del | 11.4% of 1675 | Tier 1 | – |
p.(Glu737Argfs*9) | ||||||
13596 14 | PTCH1 | c.2557C > T | 50.6% of 806 | Tier 1 | – | |
p.(Gln853*) | ||||||
P19 | 6062 09 | PTCH1 | c.2250 + 1G > A | 35.3% of 920 | Tier 1 | – |
TP53 | c.920-1G > A | 20.2% of 1635 | Tier 2 | – | ||
TP53 | c.470_471dupTC | 25.4% of 1382 | Tier 2 | – | ||
p.(Arg158Serfs*13) | ||||||
P20 | 12537 08 | PTCH1 | c.4180C > T | 27.2% of 1913 | Tier 2 | 3.19E-05 |
p.(Arg1394*) | ||||||
P22 | 13254 16 | PTCH1 | c.1347 + 2T > A | 61.8% of 1650 | Tier 1 | – |
P24 | 3418 12 | PTCH1 | c.394 + 1G > A | 23.7% of 3217 | Tier 1 | – |
P25 | 10999 08 | PTCH1 | c.1348-1G > T | 5.3% of 1391 | Tier 1 | – |