This report serves to describe the mutational landscape and properties of a given individual set, as well as rank genes and genesets according to mutational significance. MutSig vS2N was used to generate the results found in this report.
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Working with individual set: SKCM
The input for this pipeline is a set of individuals with the following files associated for each:
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An annotated .maf file describing the mutations called for the respective individual, and their properties.
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A .wig file that contains information about the coverage of the sample.
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MAF used for this analysis:SKCM.final_analysis_set.maf
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Significantly mutated genes (q ≤ 0.1): 243
Column Descriptions:
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N = number of sequenced bases in this gene across the individual set
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nnon = number of (nonsilent) mutations in this gene across the individual set
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nnull = number of (nonsilent) null mutations in this gene across the individual set
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nflank = number of noncoding mutations from this gene's flanking region, across the individual set
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nsil = number of silent mutations in this gene across the individual set
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p = p-value (overall)
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q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)
gene | N | nflank | nsil | nnon | nnull | p | q |
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NRAS | 18615 | 0 | 1 | 70 | 0 | 0 | 0 |
BRAF | 66555 | 0 | 2 | 138 | 0 | 3.5e-241 | 3.3e-237 |
CDKN2A | 15300 | 0 | 1 | 32 | 21 | 7.9e-69 | 4.9e-65 |
RTL1 | 13515 | 0 | 3 | 13 | 0 | 1.1e-33 | 5.3e-30 |
DNAH6 | 41055 | 0 | 1 | 17 | 1 | 3.5e-31 | 1.3e-27 |
EYS | 57375 | 0 | 1 | 10 | 0 | 9.6e-27 | 3e-23 |
CCNE2 | 45645 | 0 | 2 | 14 | 2 | 5.9e-22 | 1.6e-18 |
SPRR3 | 12750 | 0 | 3 | 12 | 1 | 8.6e-22 | 2e-18 |
INTS8 | 94095 | 0 | 1 | 24 | 2 | 1.8e-21 | 3.7e-18 |
SMR3A | 7140 | 0 | 2 | 8 | 0 | 1.1e-20 | 2.2e-17 |
CDC123 | 34935 | 0 | 0 | 8 | 2 | 9.6e-20 | 1.6e-16 |
NAP1L4 | 36975 | 0 | 0 | 14 | 2 | 1.5e-19 | 2.4e-16 |
NOTCH2 | 197370 | 0 | 9 | 38 | 3 | 2.2e-19 | 3.3e-16 |
ADAM30 | 73950 | 0 | 11 | 38 | 3 | 7.8e-19 | 1.1e-15 |
PTEN | 41055 | 0 | 0 | 23 | 14 | 1.1e-18 | 1.4e-15 |
PRC1 | 59415 | 0 | 2 | 17 | 1 | 7.9e-17 | 9.3e-14 |
TAF1A | 46410 | 0 | 0 | 14 | 0 | 1e-16 | 1.2e-13 |
TP53 | 32130 | 0 | 1 | 40 | 16 | 6.7e-16 | 6.8e-13 |
PPT2 | 26775 | 0 | 2 | 8 | 0 | 6.9e-16 | 6.8e-13 |
DEFB115 | 8670 | 0 | 2 | 7 | 1 | 5.4e-15 | 5e-12 |
LIPF | 40545 | 0 | 5 | 14 | 0 | 5.9e-15 | 5.3e-12 |
IDH1 | 40800 | 0 | 1 | 14 | 0 | 6.6e-14 | 5.7e-11 |
ARID2 | 154530 | 0 | 4 | 46 | 26 | 3.7e-13 | 3e-10 |
TBC1D3 | 10965 | 2 | 0 | 7 | 0 | 3.8e-13 | 3e-10 |
TAX1BP1 | 76755 | 0 | 2 | 14 | 2 | 1.6e-12 | 1.2e-09 |
CLCC1 | 56355 | 0 | 1 | 15 | 2 | 1.8e-12 | 1.3e-09 |
PPP6C | 29325 | 0 | 2 | 21 | 5 | 3.8e-12 | 2.7e-09 |
DISP1 | 141270 | 0 | 9 | 41 | 5 | 5.1e-12 | 3.5e-09 |
IVL | 22185 | 0 | 4 | 12 | 0 | 6.7e-12 | 4.3e-09 |
NBPF7 | 39780 | 0 | 1 | 16 | 1 | 6.8e-12 | 4.3e-09 |
STK31 | 103530 | 0 | 4 | 39 | 2 | 1.2e-11 | 7.5e-09 |
F2RL1 | 37230 | 0 | 5 | 15 | 1 | 2.6e-11 | 1.5e-08 |
COPG2 | 37230 | 0 | 1 | 12 | 6 | 2.8e-11 | 1.6e-08 |
DPY19L4 | 76245 | 0 | 2 | 20 | 6 | 8.9e-11 | 4.8e-08 |
PRB1 | 10200 | 0 | 4 | 30 | 1 | 9e-11 | 4.8e-08 |
In brief, we tabulate the number of mutations and the number of covered bases for each gene. The counts are broken down by mutation context category: four context categories that are discovered by MutSig, and one for indel and 'null' mutations, which include indels, nonsense mutations, splice-site mutations, and non-stop (read-through) mutations. For each gene, we calculate the probability of seeing the observed constellation of mutations, i.e. the product P1 x P2 x ... x Pm, or a more extreme one, given the background mutation rates calculated across the dataset. [1]
This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.