Table 2. List of identified mutations.
Nr. | Type | Location primary | NF1 | RAS | BRAF | Other Mutations |
---|---|---|---|---|---|---|
1 | M | G | E2174fs; L151fs | |||
2 | M | DM | R106* | |||
3 | M | G | R2258* | KRAS G12D | ||
4 | P | A | V1308fs | TERT S663N | ||
5 | P | G | G1425fs | V600E | TP53 Q165* | |
6 | P | HN | H553fs | PIK3CA E109del | ||
7 | P | G | T889fs | N188S | ||
8 | M | A | R1306* | |||
9 | P | HN | T1184fs; D896N | KRAS G12A | ARID1A V700A; SF3B1 D894N | |
10 | M | G | H55R | |||
11 | P | A | I183N | PTEN K163fs; SF3B1 R625H | ||
12 | P | D | M1376V | V600E | ARID1A R1202Q; ARID2 T1208A; MITF A401S | |
13 | P | HN | V1308L | KRAS E63K | SF3B1 R625H | |
14 | P | HN | KRAS G12F | |||
15 | P | HN | NRAS Q61R | |||
16 | P | HN | NRAS Q61R | |||
17 | P | HN | NRAS Q61K | |||
18 | P | HN | NRAS G13R | TERT Ser1104Thr | ||
19 | P | HN | NRAS Q61K | TERT P C228T; RAC1 N92K; GNA11 S267F; | ||
20 | U | G | NRAS Q61L | SF3B1 V634A | ||
21 | M | HN | NRAS A59D | TERT P C243T; TERT P C252T; SMARCA4 A152T | ||
22 | M | V | NRAS I46M | |||
23 | M | HN | V600E | TERT P C250T | ||
24 | P | HN | V600E | PIK3CA L896fs | ||
25 | P | A | V600K | |||
26 | M | HN | KIT L576P | |||
27 | M | Ur | TERT P C228T; WT1 D497N | |||
28 | M | G | GNAQ R183Q; MITF V487I | |||
29 | P | G | TP53 P58fs | |||
30 | P | G | ARID2 Y612C | |||
31 | M | HN | TERT L1002V | |||
32 | M | A | PTEN L108R | |||
33 | M | G | PIK3R1 T239M | |||
34 | P | G | KIT Y553del; MAP2K2 G286R | |||
35 | P | G | TERT R819H | |||
36 | P | HN | MITF N267K | |||
37 | P | A | TP53 C135R | |||
38 | R | HN | KIT V50L; PTEN C136R | |||
39 | P | G | TP53 P151A | |||
40 | U | G | ARID2 M545I; SF3B1 R625H | |||
41 | P | G | TERT R819H | |||
42 | U | A | MITF V487I; SMARCA4 R1260S | |||
43 | R | HN | SF3B1 T916S; CK4 R209C | |||
44 | P | HN | TP53 R175G | |||
45 | P | G | KIT, L783I | |||
46 | M | DM | KIT, I748T; BAP1, G579R: SF3B1, R625L | |||
47 | P | HN | BAP1 Y646C | |||
48 | P | HN | CTNNB1 Y331C | |||
49 | P | HN | TERT S953F | |||
50 | M | DM | CK4 V174M |
Green, mutations known to be activating; red, loss of function mutations; black, missense mutation with unknown functional consequences. Abbreviations: Nr. sample number; M metastasis; P primary tumor; R recurrence; U unknown; fs frame shift; * = stop codon (nonsense mutation); HN Head and Neck, G Genital area, A Anorectum, D Digestive tract, Ur Urinary tract, DM data missing.
For more details including allele frequencies and cDNA annotations, see Supplementary Table 1.