COLO829 Somatic Genomics Pipeline

Driver Mutation Allele-Fraction Profile

Tumour vs. normal allele fraction for the three PASS calls independently matched to COLO829's own documented driver mutations — the pattern that separates a real somatic driver from a passenger call.

Tumour AF vs. normal-sample background

All three drivers show the expected somatic signature: high tumour AF against near-zero normal-sample background (sequencing noise, not a real germline signal).

BRAF V600E — chr7:140,753,336 A>T
Tumour AF
0.669
Normal AF
0.028
CDKN2A frameshift — chr9:21,971,154 CCG>C
Tumour AF
0.979
Normal AF
0.024
TERT promoter — chr5:1,295,113 GG>AA
Tumour AF
0.974
Normal AF
0.059
Tumour allele fraction Normal-sample allele fraction (background)

What each driver mutation is

BRAF V600E

chr7:140,753,336 A>T · c.1799T>A · the canonical BRAF hotspot mutation, heterozygous. Confirmed against OncoKB and GeneBe independently.

Tumour AF 0.669  ·  Normal AF 0.028

CDKN2A frameshift

chr9:21,971,154 CCG>C · p.Ala68Glyfs*51 · a 2bp deletion, homozygous — the near-1.0 tumour AF matches the documented homozygous state.

Tumour AF 0.979  ·  Normal AF 0.024

TERT promoter

chr5:1,295,113 GG>AA · reverse complement of the documented CC>TT promoter change · the classic UV-damage dinucleotide substitution.

Tumour AF 0.974  ·  Normal AF 0.059
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