Mutation Assessor
Lung Adenocarcinoma (Primary solid tumor)
21 August 2015  |  analyses__2015_08_21
Maintainer Information
Citation Information
Maintained by David Heiman (Broad Institute)
Cite as Broad Institute TCGA Genome Data Analysis Center (2015): Mutation Assessor. Broad Institute of MIT and Harvard. doi:10.7908/C1G44PJR
Overview
Introduction

This report serves to summarize the functional impact of missense mutations in each gene as determined by Mutation Assessor[1].

Summary
  • High Functional Impact Missense Mutations: 8489

  • Medium Functional Impact Missense Mutations: 38146

  • Low Functional Impact Missense Mutations: 37594

  • Neutral Functional Impact Mutations: 27102

Results
Functional Impact by Gene

Table 1.  Get Full Table A gene-level breakdown of missense mutation functional impact, ordered by MutSig rank. Includes missense mutation counts broken down by level of functional impact (high, medium, low, neutral), median functional impact score and level, and most common level(s) of functional impact (mode) per gene.

Gene MutSig
Rank
High
Functional Impact
Count
Medium
Functional Impact
Count
Low
Functional Impact
Count
Neutral
Functional Impact
Count
Median
Functional Impact
Score
Median
Functional Impact
Level
Mode
Functional Impact
Level
TP53 1 0 169 12 3 3.1450 medium medium
KRAS 2 4 155 5 0 3.1350 medium medium
KEAP1 3 25 33 10 3 3.0150 medium medium
EGFR 4 2 32 5 12 2.9550 medium medium
STK11 5 17 4 1 4 4.2450 high high
RB1 7 0 3 2 0 2.0150 medium medium
ARID1A 8 0 8 7 1 1.7625 low medium
NF1 9 0 13 10 7 1.5550 low medium
SMARCA4 10 7 12 5 1 2.4900 medium medium
BRAF 11 14 5 11 4 2.7925 medium high
Methods & Data
Input
  1. LUAD-TP.maf.annotated

  2. sig_genes.txt

  3. Mutation Assessor Scores Release 2:

A lookup is done against the relevant Mutation Assessor Scores table for each missense mutation in a given MAF file, and available functional impact score and level are appended as two new columns to generate LUAD-TP.maf.annotated. These are summarized in Table 1, sorted by MutSig rank.

Download Results

In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.

References
[1] Boris Reva, Yevgeniy Antipin, and Chris Sander, Predicting the functional impact of protein mutations: application to cancer genomics, Nucl. Acids Res. 39(17):e118 (2011)