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: GBM
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:GBM.final_analysis_set.maf
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Significantly mutated genes (q ≤ 0.1): 89
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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PTEN | 44436 | 0 | 0 | 80 | 35 | 0 | 0 |
POTEB | 5244 | 0 | 1 | 9 | 0 | 4.1e-212 | 3.9e-208 |
TP53 | 34776 | 0 | 1 | 91 | 28 | 2.2e-91 | 1.4e-87 |
IDH1 | 44160 | 0 | 0 | 15 | 0 | 3.6e-83 | 1.7e-79 |
KRTAP5-5 | 16008 | 0 | 0 | 18 | 14 | 1.3e-73 | 4.8e-70 |
RB1 | 134412 | 0 | 1 | 21 | 18 | 7.6e-56 | 2.4e-52 |
MICALCL | 57408 | 0 | 0 | 13 | 12 | 3.5e-44 | 9.5e-41 |
PIK3CA | 116196 | 0 | 1 | 19 | 2 | 4.3e-32 | 1e-28 |
FOXRED1 | 44160 | 0 | 0 | 9 | 0 | 5e-30 | 1e-26 |
EGFR | 126132 | 0 | 5 | 58 | 0 | 8.6e-29 | 1.6e-25 |
NF1 | 412068 | 0 | 1 | 34 | 20 | 3.2e-26 | 5.6e-23 |
IRF5 | 41400 | 0 | 0 | 5 | 5 | 6.9e-22 | 1.1e-18 |
CALN1 | 24012 | 0 | 1 | 9 | 0 | 4.5e-20 | 6.5e-17 |
ZNF704 | 36984 | 0 | 0 | 5 | 5 | 4.8e-18 | 6.4e-15 |
PRMT6 | 24288 | 0 | 0 | 5 | 0 | 1.4e-17 | 1.8e-14 |
COMMD4 | 16008 | 0 | 0 | 6 | 0 | 4.3e-17 | 5e-14 |
NKPD1 | 12144 | 0 | 0 | 4 | 4 | 1.2e-16 | 1.3e-13 |
POTED | 13800 | 0 | 1 | 5 | 1 | 1.3e-16 | 1.3e-13 |
TGM2 | 59064 | 0 | 2 | 9 | 2 | 6.7e-15 | 6.6e-12 |
ARHGEF2 | 80592 | 0 | 0 | 6 | 1 | 1.1e-14 | 1e-11 |
NACA | 134136 | 0 | 0 | 7 | 6 | 2.3e-11 | 2e-08 |
PIK3R1 | 81420 | 0 | 0 | 17 | 8 | 3e-11 | 2.6e-08 |
LPHN1 | 114816 | 0 | 2 | 10 | 0 | 1.8e-10 | 1.5e-07 |
STAG2 | 137172 | 0 | 0 | 11 | 7 | 5.6e-10 | 4.4e-07 |
PLA2G2A | 14904 | 0 | 0 | 5 | 0 | 2.2e-09 | 1.7e-06 |
EML2 | 56304 | 0 | 1 | 8 | 8 | 3.3e-09 | 2.4e-06 |
IGSF9 | 73140 | 0 | 0 | 7 | 2 | 2e-08 | 0.000014 |
MST1 | 58236 | 0 | 0 | 10 | 7 | 2.3e-08 | 0.000016 |
PRIM2 | 46644 | 0 | 1 | 5 | 5 | 2.9e-08 | 0.000019 |
PROKR2 | 40296 | 0 | 1 | 6 | 0 | 3.6e-08 | 0.000022 |
TMEM45A | 29808 | 0 | 0 | 5 | 0 | 7e-08 | 0.000043 |
EPX | 64584 | 0 | 2 | 6 | 1 | 2.5e-07 | 0.00015 |
BBS1 | 52992 | 0 | 0 | 8 | 6 | 2.6e-07 | 0.00015 |
ZFP42 | 30084 | 0 | 4 | 8 | 0 | 2.7e-07 | 0.00015 |
SEMG1 | 46092 | 0 | 0 | 8 | 0 | 2.9e-07 | 0.00016 |
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.