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. 2017 Mar 24;8(25):40683–40692. doi: 10.18632/oncotarget.16542

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.