Table 1 Top 50 regions in terms of recurrence score identified by our method. We give the position of the region, number of genomes that are mutated within the region, the recurrence score, and a classification of the region based annotations and our method of identifying hypermutated regions. We also manually annotated each region by viewing in the UCSC genome browser
From: Identification of coding and non-coding mutational hotspots in cancer genomes
Rank | Chr | Start | End | Mutated samples | Score | Automated annotation | Manual annotation |
|---|---|---|---|---|---|---|---|
1 | chr12 | 25398250 | 25398300 | 256 | 399.9 | Driver | KRAS exon |
2 | chr17 | 7577100 | 7577150 | 68 | 182.1 | Driver | TP53 exon |
3 | chr17 | 7577500 | 7577550 | 62 | 165.7 | Driver | TP53 exon |
4 | chr3 | 41266100 | 41266150 | 65 | 149.3 | Driver | CTNNB1 exon |
5 | chr17 | 7578400 | 7578450 | 50 | 130.6 | Driver | TP53 exon |
6 | chr17 | 7577550 | 7577600 | 41 | 103.9 | Driver | TP53 exon |
7 | chr17 | 7578200 | 7578250 | 32 | 82.8 | Driver | TP53 exon |
8 | chr17 | 7578250 | 7578300 | 31 | 80.1 | Driver | TP53 exon |
9 | chr17 | 7577050 | 7577100 | 29 | 72.2 | Driver | TP53 exon |
10 | chr17 | 7578500 | 7578550 | 26 | 64.4 | driver | TP53 exon |
11 | chr10 | 96652800 | 96652850 | 14 | 60.0 | hotspot | non-coding |
12 | chr12 | 6899300 | 6899350 | 3 | 57.1 | hotspot | CD4 intron |
13 | chr17 | 7574000 | 7574050 | 19 | 46.2 | driver | TP53 exon |
14 | chr17 | 7578450 | 7578500 | 18 | 43.5 | driver | TP53 exon |
15 | chr17 | 7578350 | 7578400 | 17 | 40.9 | driver | TP53 exon |
16 | chr3 | 195892250 | 195892300 | 18 | 38.7 | non-coding | non-coding |
17 | chr17 | 7577000 | 7577050 | 14 | 38.3 | driver | TP53 exon |
18 | chr12 | 64749950 | 64750000 | 7 | 35.5 | hotspot | C12orf56 intron |
19 | chr13 | 50016900 | 50016950 | 8 | 34.5 | hotspot | CAB39L intron |
20 | chr11 | 63881800 | 63881850 | 9 | 34.4 | hotspot | FLRT1 intron |
21 | chr15 | 64857000 | 64857050 | 9 | 31.6 | hotspot | ZNF609 intron |
22 | chr17 | 7578150 | 7578200 | 13 | 30.6 | driver | TP53 exon |
23 | chr17 | 7578550 | 7578600 | 13 | 30.5 | driver | TP53 splice site |
24 | chr16 | 88383450 | 88383500 | 7 | 28.9 | hotspot | Non-coding / TF binding |
25 | chr14 | 24895100 | 24895150 | 11 | 28.8 | hotspot | Non-coding / TF binding |
26 | chr17 | 79389900 | 79389950 | 9 | 28.8 | hotspot | BAHCC1 intron |
27 | chr17 | 17424850 | 17424900 | 7 | 28.5 | hotspot | PEMT intron |
28 | chr22 | 46697350 | 46697400 | 5 | 27.8 | hotspot | GTSE1 intron |
29 | chr8 | 30717550 | 30717600 | 7 | 27.8 | hotspot | TEX15 exon-intron border |
30 | chr7 | 76949650 | 76949700 | 6 | 27.6 | hotspot | GSAP intron |
31 | chr14 | 74239050 | 74239100 | 8 | 27.2 | hotspot | ELMSAN1 intron |
32 | chr4 | 819750 | 819800 | 6 | 27.0 | hotspot | CPLX1 intron |
33 | chr16 | 81908550 | 81908600 | 7 | 26.4 | hotspot | PLCG2 intron |
34 | chr4 | 39684550 | 39684600 | 10 | 26.4 | non-coding | non-coding |
35 | chr22 | 39962000 | 39962050 | 6 | 26.2 | hotspot | non-coding |
36 | chr12 | 25380250 | 25380300 | 20 | 26.1 | driver | KRAS exon |
37 | chr3 | 43746400 | 43746450 | 11 | 25.4 | non-coding | ABHD5 intron |
38 | chr17 | 7579300 | 7579350 | 10 | 25.4 | driver | TP53 exon |
39 | chr9 | 21971100 | 21971150 | 12 | 24.5 | driver | CDKN2A exon |
40 | chr8 | 9921850 | 9921900 | 12 | 24.3 | non-coding | MRSA intron |
41 | chr11 | 70764100 | 70764150 | 6 | 24.1 | hotspot | SHANK2 intron |
42 | chr19 | 12597300 | 12597350 | 9 | 23.8 | hotspot | ZNF709 intron |
43 | chr17 | 49455750 | 49455800 | 10 | 23.6 | hotspot | non-coding |
44 | chr5 | 1295200 | 1295250 | 14 | 23.4 | non-coding | TERT promoter |
45 | chr7 | 151591800 | 151591850 | 6 | 23.2 | hotspot | non-coding |
46 | chr21 | 44524450 | 44524500 | 9 | 22.9 | driver | U2AF1 exon |
47 | chr1 | 45914900 | 45914950 | 7 | 22.7 | hotspot | TESK2 intron |
48 | chr8 | 29901300 | 29901350 | 9 | 22.4 | non-coding | non-coding |
49 | chr7 | 606050 | 606100 | 7 | 22.0 | hotspot | PRKAR1B intron |
50 | chr2 | 49173750 | 49173800 | 27 | 22.0 | non-coding | CTCF binding |