Whole-genome sequencing (WGS) of patient 1’s primary kidney tumor.
Circos plot of patient 1’s WGS. The two innermost tracks depict
the copy number changes (red, increase; blue, decrease; purple, allelic
imbalance, one allele amplified or deleted) in the tumor when compared
with the normal for patient 1. The outermost track shows the
intermutation distance for substitutions each plotted according to the
type of nucleotide change. The middle track shows the genomic positions
of the small insertion (green) and deletion (red) along the genome.
Rearrangements are plotted as arcs inside the Circos plot. Also shown is
a zoomed-in view of the coverage over the SDHB locus in
both tumor and matched normal samples, demonstrating the same deletion
of exons 4 and 5 in both samples.