SOMATIC MUTATIONS
This section provides information for the somatic mutations described in the DETAILED GENOMIC ANALYSIS section, including SNVs and INDELs. Mutational burden analysis and mutation signature results are also reported in this section. Look in this section for details about mutation position, the sample in which mutations are detected, copy number and expression metrics.
SMALL SOMATIC MUTATIONS
SUMMARY OF SOMATIC EVENTS
# Non-synonymous protein coding SNVs [Truncating]
47[4]

# Protein coding indels [Frameshift]
12[10]


MUTATION SPECTRUM

SMALL MUTATIONS: GENOMIC DETAILS
VARIANTS OF POTENTIAL CLINICAL RELEVANCE
No somatic small mutations of potential clinical relevance were found from the analysis.
VARIANTS OF PROGNOSTIC OR DIAGNOSTIC RELEVANCE
No somatic small mutations of prognostic or diagnostic relevance were found from the analysis.
VARIANTS OF BIOLOGICAL RELEVANCE
No somatic small mutations of biological relevance were found from the analysis.
VARIANTS OF UNKNOWN SIGNIFICANCE IN KNOWN CANCER-RELATED GENES
Gene Transcript Protein Change Location Ref/Alt Zygosity Copy Change LOH State Ref/Alt DNA Ref/Alt RNA Expression (RPKM) Fold Change vs. average SARC %ile
CHD2 ENST00000394196 p.Q366fs 15:93487686 GC>G het[1/2] 0 HET 116/40 14/6 8.71 -1.05 81
HDAC7 ENST00000080059 p.A60V 12:48192647 G>A het[1/2] 0 HET 63/15 6/1 3.52 -1.72 0
KDM5C ENST00000375401 p.E1366* X:53222976 C>A hom[1/1] -1 DLOH 22/42 4/3 2.83 -2.56 0
KIAA1549 ENST00000440172 p.E1802D 7:138529108 C>G hom [2/2] 0 HET 43/36 na/na 0.14 -1.61 26
SMARCA1 ENST00000371123 p.A40V X:128657229 G>A hom [1/1] -1 DLOH 27/30 1/14 34.5 1.37 93
ZNF687 ENST00000336715 p.L743fs 1:151261113 TCCTG>T het [1/2] 0 HET 80/22 11/1 2.77 -1.33 5