Figure 5.

Exome sequencing identifies novel retrotransposon insertions into exons. (A) Genes with somatic retrotransposon insertions into exons as detected by TranspoSeq-Exome. Somatic insertions in PPFIA2, PCNX, and CRB1 were identified in the whole-genome sequencing cohort as well as in separate samples in the exome sequencing set. (B) Diagram of a 90-bp 5′-truncated L1HS element inserted into exon 6 of PTEN. In dark blue are RNA-seq reads that span the reference–transposon junction, supporting its expression.