Table 1.

Selected melanoma tumor somatic invariants identified by exome sequencing

Gene	Chromosome	VAF	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect
BRAF	7	0.124	ENST00000646891.1:c.1799_1800delinsAC	ENSP00000493543.1:p.Val600Asp	Deletion-insertion	Missense
DNMT3A	2	0.121	ENST00000264709.7:c.2245C>T	ENSP00000264709.3:p.Arg749Cys	Substitution	Missense
GNAQ	9	0.163	ENST00000286548.8:c.548G>A	ENSP00000286548.4:p.Arg183Gln	Substitution	Missense

(VAF) Variant allele frequency, (HGVS) Human Genome Variation Society.