Of note, these ASEs were most significantly enriched with high frequencies in two collections of cancer samples, cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC) and glioblastoma multiforme and low-grade glioma (GBMLGG) (Fig. 2a), the latter having been reported to harbor the highest deletion/mutation frequencies in PTEN gene among all cancer types36. The gene discussed is PTEN; the disease is cancer.