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. Author manuscript; available in PMC: 2021 Jul 12.
Published in final edited form as: Oncogene. 2018 Aug 9;38(2):180–193. doi: 10.1038/s41388-018-0429-3

Table 1.

Genetic variants found in R4 cells

Gene Variant Variant location Consequence/type Total read depth Variant freq SIFT/PolyPhen COSMIC ID/dbSNP

SETD2 chr3:47162614G > T
p.T1171K
c.3512C > A
exon 3 Missense substitution 266 22% deleterious(0)
probably_damaging (0.98)
EGFR chr7:55211142A > G
p.K129E
c.385A > G
exon 3 Missense substitution 314 16% tolerated(1)
benign(0.005)
COSM
5041204
FANCC chr9:97864140C > A
c.1534 + 8G > T
exon 15 Splice region 126 10%