Table 1.

Recurrent mutations identified in melanoma whole exome sequencing and prevalence screen

Gene name	# of tumors affected	Nucleotide change	Amino acid change	Synonymous or non-synonymous	Tumor name	Tumor panel
BRAF	7	c.1799T>A	p.Val600Glu	Non-synonymous	1T	Exome capture
					5T	Exome capture
					9T	Exome capture
					22T	Exome capture
					35T	Exome capture
					51T	Exome capture
					91T	Exome capture
CPT1A	2	c.1638C>T	p.Phe546Phe	Synonymous	5T	Exome capture
					43T	Exome capture
DCC	3	c.164G>A	p.Gly55Glu	Non-synonymous	12T	Exome capture
					18T	Exome capture
					MB1160_T	Validation set 1
FCRL1	3	c.741C>T	p.Ile247Ile	Synonymous	91T	Exome capture
					96T	Exome capture
					63T	Prevalence screen
LRRN3	2	c.1084G>A	p.Glu362Lys	Non-synonymous	12T	Exome capture
					24T	Exome capture
NOS1	2	c.2312C>T	p.Ser771Leu	Non-synonymous	24T	Exome capture
					60T	Exome capture
PLCH1	2	c.907C>T	p.Gln303X	Non-synonymous	1T	Exome capture
					24T	Exome capture
SLC17A5	2	c.1090C>T	p.Arg364Cys	Non-synonymous	12T	Exome capture
					18T	Exome capture
TRRAP	6	c.2165C>T	p.Ser722Phe	Non-synonymous	63T	Exome capture
					91T	Exome capture
					96T	Prevalence screen
					106T	Prevalence screen
					119T	Prevalence screen
					A375	Commercial cell line
ZNF831	3	c.4421C>T	p.Ser1474Phe	Non-synonymous	43T	Exome capture
					91T	Exome capture
					MB1160_T	Validation set 1

Samples used in the exome capture and prevalance screen were obtained from the Surgery Branch, National Cancer Institute. Validation set 1 samples were obtained from The Division of Medical Oncology, University of Colorado Denver School of Medicine. A375 is a commercially available melanoma cell line. Listed BRAF mutations are from the whole-exome study only. Based on genome build hg18 (NCBI 36.1). Number of samples investigated: exome capture, n = 14; prevalence screen, n = 70; validation set 1, n = 39; validation set 2, n = 32; commercial cell lines, n = 12.