Table 10.
Gene |
SIFT
|
PolyPhen
|
Mutation Assessor
|
|||
Score
|
Prediction
|
Score
|
Prediction
|
Score
|
Prediction
|
|
BARD1 | 0 | Deleterious | 0.144 | Benign | 0.66939; 2.045 | Medium |
EGFR | 0.4 | Tolerated | 0.956 | Probably damaging | 0.33485; 1.01 | Low |
GEN1 | 0 | Deleterious | 0.999 | Probably damaging | 0.34521; 1.04 | Low |
BRCA1 | 0.02 | Deleterious | 0.775 | Probably damaging | 0.78223; 2.4 | Medium |
NTRK1 | 0.01 | Deleterious | 0.639 | Probably damaging | 0.02685; -0.53 | Neutral |
PDGFRA | 0.1 | Tolerated | 0.05 | Benign | 0.38838; 1.175 | Low |
TSC2 | 0.15 | Tolerated | 0.327 | Benign | 0.57536; 1.79 | Low |
MSH6 | 0.45 | Tolerated | 0.176 | Benign | 0.08118; 0 | Neutral |
EGFR | 0 | Deleterious | 0.814 | Possibly damaging | 0.83953; 2.67 | Medium |
MTUS1 | 0.09 | Tolerated | 0.044 | Benign | 0.27053; 0.805 | Low |
PTCH1 | 0 | Deleterious | 0.7 | Possibly damaging | 0.88377; 2.95 | Medium |
SDHA | 0.01 | Deleterious low confidence | 0.078 | Benign | 0.49699; 1.58 | Low |
MTUS1 | 0.01 | Deleterious | 0.096 | Benign | 0.29908; 0.895 | Low |
RECQL4 | / | / | / | / | / | / |
RECQL4 | / | / | / | / | / | / |
ATM | 0 | Deleterious | 0.294 | Benign | 0.67953; 2.075 | Medium |
TSC2 | 0.01 | Deleterious | 0.226 | Benign | 0.08118; 0 | Neutral |
FANCG | 0.03 | Deleterious | 0.018 | Benign | 0.14661; 0.345 | Neutral |
SBDS | 0.12 | Tolerated | 0.051 | Benign | 0.71920; 2.185 | Medium |
VHL | 0.06 | Tolerated | 0.012 | Benign | 0.19112; 0.55 | Neutral |
FANCA | 0.24 | Tolerated | 0 | Benign | 0.02315; -0.6 | Neutral |
TP53 | 0.03 | Deleterious | 0.386 | Benign | 0.45228; 1.405 | Low |
FANCA | 0.79 | Tolerated | 0.007 | Benign | 0.52573; 1.65 | Low |
PALLD | 0.7 | Tolerated | 0.159 | Benign | 0.00602; -1.34 | Neutral |
MLH3 | 0.47 | Tolerated | 0 | Benign | 0.55103; 1.725 | Low |
SMARCA4 | 0.05 | Deleterious | 0.007 | Benign | 0.29908; 0.895 | Low |
NF1 | 0.62 | Tolerated | 0.015 | Benign | 0.08118; 0 | Neutral |
PTCH1 | 0 | Deleterious | 0.626 | Possibly damaging | 0.88377; 2.95 | Medium |
GALNT12 | 0.11 | Tolerated | 0.007 | Benign | 0.51422; 1.61 | Low |
ATR | 0 | Deleterious | 0.998 | Probably damaging | 0.65975; 2.015 | Medium |
VEGFA | 0.25 | Tolerated low confidence | 0.695 | Probably damaging | 0.08118; 0 | Neutral |
DIS3L2 | 0.05 | Tolerated | 0.996 | Probably damaging | 0.87328; 2.875 | Medium |
TSC1 | / | / | / | 0.00621; -1.32 | Neutral | |
PTCH1 | 0.03 | Deleterious low confidence | 0.259 | Benign | 0.36672; 1.1 | Low |
BRIP1 | / | / | / | / | / | / |
WRN | 0.59 | Tolerated | 0.164 | Benign | 0.70595; 2.14 | Medium |
RECQL | 0.5 | Tolerated | 0.005 | Benign | 0.41079; 1.255 | Low |
BARD1 | 0.4 | Tolerated | 0 | Benign | 0.08118; 0 | Neutral |
USHBP1 | 0.05 | Tolerated | 0.521 | Possibly damaging | 0.56769; 1.78 | Low |
APC | 0.16 | Tolerated | 0.82 | Possibly damaging | 0.46157; 1.445 | Low |
DICER1 | 0.29 | Tolerated | 0.664 | Possibly damaging | 0.34521; 1.04 | Low |
FANCM | 1 | Tolerated | 0 | Benign | 0.40543; 1.245 | Low |
APC | 0.57 | Tolerated low confidence | 0.003 | Benign | 0.14661; 0.345 | Neutral |
NSD1 | 0.03 | Deleterious | 0.684 | Possibly damaging | 0.66939; 2.045 | Medium |
SDHA | 0.02 | Deleterious low confidence | 0.02 | Benign | 0.20574; 0.59 | Neutral |
MTUS1 | 0.87 | Tolerated | 0 | Benign | 0.12746; 0.255 | Neutral |
EXT2 | 0.03 | Deleterious | 0.993 | Possibly damaging | 0.82323; 2.585 | Medium |
ATM | 0.58 | Tolerated | 0.007 | Benign | 0.56769; 1.78 | Low |
BRCA2 | 0.09 | Tolerated | 0.003 | Benign | 0.08118; 0 | Neutral |
TP53 | 0.94 | Tolerated | 0 | Benign | 0.03608; -0.345 | Neutral |
FLCN | 0.03 | Deleterious | 0 | Benign | 0.47716; 1.5 | Low |
MSH2 | 0.25 | Tolerated | 0.023 | Benign | 0.39692;1.235 | Low |
KIT | 0.15 | Tolerated | 0.472 | Possibly damaging | 0.03608; -0.345 | Neutral |
BAP1 | 0 | Deleterious low confidence | 0.968 | Possibly damaging | 0.59436; 1.845 | Low |
TSC2 | 0.02 | Deleterious | 0.446 | Possibly damaging | 0.75777; 2.31 | Medium |