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: 720

  • Medium Functional Impact Missense Mutations: 3817

  • Low Functional Impact Missense Mutations: 3915

  • Neutral Functional Impact Mutations: 2767

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 46 3 0 3.0200 medium medium
RB1 3 0 1 1 0 1.8825 low medium/low
EOMES 6 0 0 1 0 1.0400 low low
PKD2 7 0 1 1 0 1.5525 low medium/low
WNK1 10 0 0 1 0 0.8950 low low
PTEN 12 5 1 0 0 3.7950 high high
KRTAP5-5 13 0 3 0 0 3.1450 medium medium
TRAF7 14 0 0 2 0 1.2650 low low
COL18A1 18 0 2 0 1 1.9050 medium medium
LHCGR 19 0 0 1 0 1.7600 low low
Methods & Data
Input

  1. SARC-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 SARC-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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