Table 1 Confirmed tumor-specific somatic mutations identified by transcriptome sequencing

From: Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

Gene Position (hg18) Reference genotype Tumor genotype Amino acid Ensembl protein Read depth tumor Read depth remission
TLE4 chr9:81523675 A/A A/G Asn → Ser (N511S) ENSP00000365735 167 114
SHKBP1 chr19:45775904 G/G G/A Val → Ile (V89I) ENSP00000291842 81 249
RUNX1 chr21:35128760 G/G G/A Gln → Stop (Q208X) ENSP00000300305 59 36
XPO7 chr8:21883756 A/A A/G Arg → Gly (R139G) ENSP00000252512 52 44
RRP8 chr11:6579867 G/G G/C Ser → Cys (S85C) ENSP00000254605 23 38
  1. Abbreviation: AML, acute myeloid leukemia.
  2. The table shows details of the five point mutations detected in the AML patient including affected genes, genomic position, resulting amino-acid change and sequence coverage of the affected sites (see also Figure 3).