Figure 3.

Annotation interface. Excerpts of PeCanPIE annotation interface. (A) Results for Genome in a Bottle WGS data set. Variant page details for NOTCH1 R1350L: (B) variant population frequency detail from ExAC non-TCGA database; (C) functional predictions. (D) Functional data display for TP53 gene: Functional assay results for N235S and G245S show that N235S appears functionally benign, whereas G245S appears functionally damaging.

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