Mutation Assessor
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: 2672

  • Medium Functional Impact Missense Mutations: 12459

  • Low Functional Impact Missense Mutations: 11570

  • Neutral Functional Impact Mutations: 8690

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.

MutSig
Rank 		Gene 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
1 IDH1 415 0 0 0 4.540 high high
2 TP53 0 323 4 1 3.145 medium medium
4 CIC 16 29 17 4 3.320 medium medium
5 NF1 0 10 2 3 2.340 medium medium
6 PIK3R1 1 18 2 0 2.710 medium medium
7 NOTCH1 10 10 0 5 3.155 medium high/medium
8 IDH2 20 0 0 0 3.900 high high
9 TCF12 0 1 0 0 1.995 medium medium
10 PIK3CA 0 30 14 17 1.765 low medium
11 RB1 0 0 2 0 1.750 low low
Methods & Data
Input

  1. GBMLGG-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 GBMLGG-TP.maf.annotated. These are summarized in Table 1, sorted by MutSig rank.

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)
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