Table 2.
1 Mutation | 2 VEST p-Value | 2 VEST FDR | Tissue | 3 dbSNP |
---|---|---|---|---|
G212C | 0.00071000 | 0.05 | CNS | rs777087960 |
H163R | 0.00071000 | 0.05 | Endometrium | |
R259H | 0.00091000 | 0.05 | Large Intestine | |
E243Q | 0.00121000 | 0.05 | Upper Aer Dig | |
F314S | 0.00152000 | 0.05 | Upper Aer Dig | |
P329S | 0.00182000 | 0.05 | Endometrium | |
F262V | 0.00182000 | 0.05 | Pancreas | |
G261C | 0.00253000 | 0.05 | Lung | |
G197D | 0.00283000 | 0.05 | Endometrium | rs369680804 |
S278F | 0.00283000 | 0.05 | Soft Tissue | |
G318R | 0.00314000 | 0.05 | Kidney | |
L267R | 0.00314000 | 0.05 | Liver | |
G164S | 0.00536000 | 0.05 | Haem and Lymph | |
P215H | 0.00607000 | 0.05 | Endometrium | |
G120D | 0.008 | 0.10 | Skin | |
R205K | 0.0082 | 0.10 | Lung | |
A241V | 0.01002000 | 0.10 | Lung | rs766238005 |
L245V | 0.01113000 | 0.10 | Lung | |
W100L | 0.01214000 | 0.10 | Skin | |
N155S | 0.01295000 | 0.10 | Skin | |
G270R | 0.01326000 | 0.10 | Lung | |
G167D | 0.01427000 | 0.10 | Prostate | |
P141S | 0.01488000 | 0.10 | Lung | |
S244C | 0.01528000 | 0.10 | Liver | |
K146N | 0.0164 | 0.10 | Large Intestine | |
R218W | 0.01791000 | 0.10 | Skin | rs528376420 |
A310T | 0.01893000 | 0.10 | CNS | rs761761542 |
W126R | 0.02054000 | 0.10 | Stomach | |
P215S | 0.02146000 | 0.10 | Skin | |
D222V | 0.02257000 | 0.10 | Kidney, Large intestine | |
N228Y | 0.0248 | 0.10 | Stomach | |
S294F | 0.0249 | 0.10 | Skin | |
R297Q | 0.02844000 | 0.10 | Haem and Lymph | rs140793537 |
R297 * | 0.03186000 | 0.10 | Stomach | rs771080849 |
Y139 * | 0.03273000 | 0.10 | Esophagus | |
R189L | 0.0339 | 0.10 | Skin | |
R137 * | 0.03489000 | 0.10 | Skin | rs572486802 |
4 Diagram with mutation distribution |
1 Only those mutations with significant VEST values are shown. Mutations are organized by p-value significance. 2 Significance was chosen for mutations with p-value < 0.05 and FDR < 0.1. 3 NCBI Identifiers for mutations that have single nucleotide polymorphisms. 4 Green labels represent point mutations and black labels represent truncations.