Table 3.

List of top MutSig2CV somatic mutations in the whole-genome sequencing cohort of 13 widely invasive follicular thyroid carcinomas

Gene	P/q	Location (GRCh37)	Transcript	HGVSc	HGVSp	Mutation classification	Hot spot (COSMIC)	Case ID	Allele frequency, %
FAM72D	< .001/0.007	Chr1:143906071	ENST00000400889	c.295_296delinsGA	p.Arg99Glu	Missense	Not reported	203	38
		Chr1:143906086	ENST00000400889	p.Leu94Pro	p.L94P	Missense	Not reported	203	38
		Chr1:143906071	ENST00000400889	c.295_296delinsGA	p.Arg99Glu	Missense	Not reported	204	20
		Chr1:143906072	ENST00000400889	c.295_296delinsGA	p.Arg99Glu	Missense	Not reported	208	13
TP53	< .001/0.032	Chr17:7675070	ENST00000635293	c.425G > A	p.Arg142His	Missense	No	102	9
		Chr17:7577156	ENST00000269305	c.783-1G > T	p.X261_splice	Splice acceptor	No	202	93
		Chr17:7577120	ENST00000269305	c.818G > T	p.Arg273Leu	Missense	Yes	207 a	23
		Chr17:7578253	ENST00000269305	c.596G > A	p.Gly199Glu	Missense	No	207 a	11
		Chr17:7579366	ENST00000269305	c.320dup	p.Tyr107Ter	Nonsense	No	207 a	9
EIF1AX	< .001/0.032	Chr23:20148726	ENST00000379607	c.338-1G > T	p.X113_splice	Splice acceptor	No	102	97
		Chr23:20148633	ENST00000379607	c.429 + 1G > A	p.X143_splice	Splice donor	No	106	86
		Chr23:20156732	ENST00000379607	c.25G > C	p.Gly9Arg	Missense	Yes	206	38
DGCR8	< .001/0.802	Chr22:20079439	ENST00000351989	c.1552G > A	p.Glu518Lys	Missense	Yes	101	88
		Chr22:20079439	ENST00000351989	c.1552G > A	p.Glu518Lys	Missense	Yes	104	48

Abbreviations: COSMIC, Catalogue of Somatic Mutations in Cancer; ID, identification.

^a The genomic coordinates in the MutSig2CV analysis are based on hg19 and the genomic coordinates in the heat map (Fig. 1) are based on hg38.