Table 4.
Gene | This Study $ | ICGC (99) $ | Jones (24) $ | Total | Common Site |
Case | Tissue | Chr. | Position | Amino acid | Impact | Allele 1 | Allele 2 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
T | SMAD4 | 2 | 16 | 8 | 26 | n | 37 | T | 18 | 48591919 | R361H | D | G 16 | A 12 |
n | 10 | T | 18 | 48603054 | A452fs | D | C 6 | CT 8 | ||||||
DNAH8 | 1 | 1 | 1 | 3 | n | 10 | T | 6 | 38723768 | I476M | D | A 67 | G 26 | |
MYO1E | 1 | 2 | 0 | 3 | n | 37 | T | 15 | 59564510 | I48V | D | T 60 | C 19 | |
NTRK3 | 1 | 1 | 1 | 3 | n | 6 | T | 15 | 88476311 | C599* | D | G 47 | T 16 | |
T, PxT | TP53 | 7 | 33 | 18 | 58 | y | Table 1 | |||||||
ATM | 2 | 5 | 0 | 7 | n | 10 | T | 11 | 108214082 | C2801Y | D | G33 | A 14 | |
n | 41 | PxT | 11 | 108142067 | S1004N | T | G 90 | A 44 | ||||||
NEB | 2 | 5 | 1 | 8 | n | 41 | PxT | 2 | 152474902 | E3400Q | D | C 143 | G 107 | |
n | 37 | T | 2 | 152421598 | H4431R | T | T 103 | C 32 | ||||||
PxT | SLITRK3 | 1 | 1 | 1 | 3 | n | 6 | PxT | 3 | 164906758 | G621* | D | C 20 | A 10 |
ATP10A | 1 | 1 | 2 | 4 | n | 2 | PxT | 15 | 25959351 | T605M | D | G 18 | A 16 | |
CDH4 | 1 | 2 | 0 | 3 | n | 6 | PxT | 20 | 60499411 | P476S | D | C 24 | T 8 | |
CSMD1 | 1 | 5 | 1 | 7 | n | 2 | PxT | 8 | 4494898 | D90N | D | C 46 | T 26 | |
DPP6 | 1 | 1 | 3 | 5 | n | 8 | PxT | 7 | 154593134 | R393* | D | C 31 | T 32 | |
FNIP1 | 1 | 1 | 1 | 3 | n | 6 | PxT | 5 | 131008104 | L650S | D | A 39 | G 13 | |
HMCN1 | 1 | 4 | 0 | 5 | n | 41 | PxT | 1 | 186063449 | C3413F | D | G26 | T 56 | |
KRAS | 9 | 94 | 24 | 118 | y | Table 1 | ||||||||
LRFN5 | 1 | 0 | 2 | 3 | n | 2 | PxT | 14 | 42355997 | R57W | D | C 26 | T 18 | |
MLL3 | 1 | 6 | 4 | 11 | n | 2 | PxT | 7 | 151860002 | F3553fs | D | T 11 | TA 18 | |
MUC16 | 4 | 5 | 2 | 11 | n | 12 | PxT | 19 | 8993006 | Splice Site | N | C 21 | A 28 | |
n | 12 | P | 19 | 9066456 | P6997R | N | G 110 | C 110 | ||||||
n | 6 | PxT | 19 | 9063763 | P7895T | N | G 34 | T 13 | ||||||
n | 2 | PxT | 19 | 8999458 | Q13573K | D | G 62 | T 10 | ||||||
n | 41 | PxT | 19 | 9048237 | S11132G | N | T 164 | C 86 | ||||||
ODZ4 | 1 | 1 | 1 | 3 | n | 41 | PxT | 11 | 78381167 | G2075R | D | C 158 | G 70 | |
PKHD1L1 | 1 | 2 | 0 | 3 | n | 2 | PxT | 8 | 110454274 | N1415H | D | A 37 | C 8 | |
RYR1 | 1 | 1 | 1 | 3 | n | 41 | PxT | 19 | 38991484 | M2490V | T | A 18 | G 4 | |
RYR2 | 2 | 2 | 2 | 6 | n | 6 | PxT | 1 | 237870277 | D3203E | T | T 6 | A 9 | |
n | 37 | P | 1 | 237604778 | R389C | D | C 161 | T45 | ||||||
RYR3 | 1 | 4 | 0 | 5 | n | 10 | T | 15 | 34145258 | N4542K | T | T 98 | A 34 | |
SCN2A | 1 | 1 | 1 | 3 | n | 41 | PxT | 2 | 166187962 | D758H | D | G 92 | C 54 | |
SPATA17 | 1 | 1 | 1 | 3 | n | 41 | PxT | 1 | 217975170 | P328L | D | C 35 | T 33 | |
SYCE1 | 1 | 3 | 1 | 5 | n | 2 | PxT | 10 | 135368531 | P341S | D | G48 | A 24 | |
USP34 | 1 | 2 | 0 | 3 | n | 6 | PxT | 2 | 61622085 | K219T | D | T 12 | G 9 | |
PxT, P | APOB | 2 | 1 | 1 | 4 | n | 2 | P | 2 | 21225615 | V4227L | T | C 24 | A 14 |
n | 6 | PxT | 2 | 21245863 | N886H | D | T 22 | G 19 | ||||||
FN1 | 2 | 1 | 1 | 4 | n | 4 | PxT | 2 | 216259428 | R1207G | D | T 36 | C 19 | |
n | 2 | P | 2 | 216271900 | E888V | D | T70 | A 25 | ||||||
OBSCN | 2 | 2 | 1 | 5 | n | 37 | P | 1 | 228433195 | C1188F | D | G 104 | T 20 | |
n | 4 | PxT | 1 | 228505380 | R4593C | D | C 42 | T 42 | ||||||
P | CDH23 | 1 | 2 | 0 | 3 | n | 37 | P | 10 | 73553299 | P2205L | D | C 77 | T 32 |
GPR133 | 1 | 1 | 2 | 4 | n | 8 | P | 12 | 131456051 | K79M | D | A 50 | T 35 | |
LAMA1 | 1 | 1 | 1 | 3 | n | 12 | P | 18 | 7042183 | K407fs | D | CAG 14 | C 7 | |
NAV3 | 1 | 1 | 1 | 3 | n | 41 | P | 12 | 78594300 | V2233L | D | G 97 | T 35 | |
NBAS | 1 | 3 | 0 | 4 | n | 6 | P | 2 | 15613348 | L575M | D | A 21 | T 10 | |
PCDHGA1 | 1 | 1 | 1 | 3 | n | 2 | P | 5 | 140711164 | E305* | D | G 15 | T 32 |
Columns: Tissue, Amino Acid, Chr. (Chromosome), Position (nucleotide), Impact (SIFT/Polyphen), Allele 1 and Allele 2 (nucleotide and read depth) as presented as in Table 3; “Genes” refers to genes commonly mutated in This Study, (ICGC) Biankin et al. (24) and Jones et al. (11).
The number of cases mutated in each study is shown;. “Common site” refers to identical mutations in the studies; “Case” refers to the specific case in This Study with a mutation in the specific gene.