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. 2020 Jul;9(7):4080–4092. doi: 10.21037/tcr-19-2899

Table 2. Function classification of gene mutations in K06262 primitive tumor sample.

Gene AAChange ExonicFunc.refGene Classification
MSH2 c.196_197insG Stopgain DNA damage and repair
ERCC1 c.211delG Frameshift deletion DNA damage and repair
GATA2 c.441dupG Frameshift insertion RNA transcription and translation
TET2 c.4582delC Frameshift deletion RNA transcription and translation
PML c.1767delG Frameshift deletion RNA transcription and translation
JAK3 c.G2774T SNV RNA transcription and translation
CRTC1 c.1706delC Frameshift deletion RNA transcription and translation
CEBPA c.206delC Frameshift deletion RNA transcription and translation
CEBPA c.218_219del Frameshift deletion RNA transcription and translation
CEBPA c.208_209del Frameshift deletion RNA transcription and translation
CEBPA c.212delG Frameshift deletion RNA transcription and translation
EP300 c.4402dupA Frameshift insertion RNA transcription and translation
PDE4DIP c.T5207A SNV Metabolism
PDE4DIP c.C2353T Stopgain Metabolism
PDE4DIP c.1218delA Frameshift deletion Metabolism
PDE4DIP c.G180A Stopgain Metabolism
RET c.960_961del Frameshift deletion Metabolism
BCL9 c.1148_1149insG Frameshift insertion Development and differentiation
ACVR2A c.29_30insA Frameshift insertion Development and differentiation
ACVR2A c.G31T Stopgain Development and differentiation
TNK2 c.21delC Frameshift deletion Development and differentiation
HNF1A c.A1720G SNV Development and differentiation
CIC c.407_408insC Frameshift insertion Development and differentiation
IKBKB c.151delC Frameshift deletion Immunology
CDKN2A c.342delC Frameshift deletion Apoptosis
BCL2L2 c.265delG Frameshift deletion Apoptosis
EZH2 c.1682delA Frameshift deletion Proliferation
BCL2 c.119_120del Frameshift deletion Proliferation
TCF3 c.1474delG Frameshift deletion Proliferation
MARK4 c.1310delG Frameshift deletion Proliferation
MTOR c.3041_3042insT Frameshift insertion Signal transduction
GNAS c.C1522A SNV Signal transduction
BAP1 c.G88T Stopgain Tumor metastasis