Overview of NIH FPDMM natural history study. (A) Study schema. Enrolled patients with germline RUNX1 variants and family member controls visited the National Institutes of Health (NIH) clinical center and/or sent remote samples annually. Both clinical and research data stored in the clinical and genomic databases were used for downstream research and guide clinical management. (B) RUNX1 mutations carried by the patients are included in this manuscript. Numbers in the circle indicate patient number who carries the mutation. (C) CNVs affecting RUNX1 gene. Blue bars are showing deletions, and red bars are showing duplication. (D) VAF correlation between exome sequencing and RNA-seq data. Red dots are RUNX1 variants, and gray dots are all other variants (all variants with ≥20× coverage in both RNA-seq and ES, including both germline and somatic) in all samples that have 2 platform data set. Histograms (top and right) show the VAF distributions in exome sequencing and RNA-seq, respectively.