Table 1. Mutations in TOX3 in primary breast tumours.

Mutation						Tumour
Nucleotideand aminoacid	Exon	Codon	Type	EffectPredictiona	Frequency	Typeb	ERStatus	Metastasis	16q12LOH	CDH1Mutation	AllelicExpressionc	#
c.190T>C	3	64	Missense	Positive	1/124	Luminal A	Pos	No	No	No	WT	1
(p.Phe64Leu)
c.385C>T	3	129	Missense	Positive	1/124	Luminal A	Pos	No	No	No	MUT>WT	2
(p.Leu129Phe)
						Normal	Pos	No	No	No	WT	3
c.1304C>Td	7	435	Missense	Negative	3/133	–	–	No	–	No	MUT = WT	4
(p.Ser435Leu)						Luminal A	Pos	No	Yes	No	MUT	5
c.1525_1554del	7	509–518	Deletion	Positive	1/133	Luminal A	Pos	Yes	Yes	Gln23*	WT	6
(p.Gln509_Gln518del)

^aIn-silico prediction (data shown as File S2 and S3).

^bPAM50 classification [15], [16].

^cWT, only the wild-type allele is detected in the tumour mRNA; MUT, only the mutated allele is detected in the tumour mRNA; MUT = WT and MUT>WT, both mutated and wild-type alleles are detected in the tumour mRNA in equimolar amounts or the mutated allele in higher quantity.

^dReported in COSMIC [20].