Table 1 Table of individual patients showing the mutation location, cDNA and protein consequences, and variant allele frequencies (VAF)

Subject	AA Changes	VAF WES affected bone	VAF WES unaffected bone	VAF amplicon affected bone	VAF ddPCR affected bone	VAF ddPCR unaffected bone	VAF ddPCR skin	VAF ddPCR unaffected skin	VAF ddPCR blood
melo4	NM_002755:exon2:c.A167C:p.Q56P	10.1%^a	0.00%	N.D.	9.4%	0.0%	12.5%	0.0%	0.0%
melo9	NM_002755:exon2:c.A167C:p.Q56P	17.19%^a	0.00%	N.D.	20.0%	0.0%	N.D.	N.D.	0.0%
melo19	NM_002755:exon2:c.A167C:p.Q56P	30.86%^a	0.99%	27.9%	27.8%	0.0%	N.D.	N.D.	N.D.
melo10	NM_002755:exon2:c.A169G:p.K57E	12.07%^a	0.00%	16.7%	18.3%	0.0%	N.D.	N.D.	0.0%
melo2	NM_002755:exon2:c.G171T:p.K57N	6.09%	0.00%	7.2%	7.0%	0.0%	4.1%	0.0%	0.0%
melo6	NM_002755:exon2:c.G171T:p.K57N	3.12%	0.00%	4.8%	4.4%	0.0%	16.2%	0.0%	0.0%
melo16	NM_002755:exon2:c.G171T:p.K57N	1.04%	0.00%	2.7%	2.8%	0.0%	0.0%	0.0%	0.0%
melo18	NM_002755:exon2:c.G171T:p.K57N	25.21%^a	0.0%	34.4%	33.6%	0.0%	6.5%	N.D.	0.0%

^a Cases where MAP2K1 mutations were identified through automated filtering of WES for somatic mutations. Others were found by manual inspection. Mutations were not identified in normal control bone. Melo-19 had one mutant read in unaffected bone that was not seen in ddPCR, designating it as a sequencing error. The VAF results from ddPCR, amplicon and whole exome sequencing are highly correlated (R = 0.96 or greater for all comparisons, p < 0.003). MAP2K1 mutations are present in overlying skin in four of five patients tested while contralateral skin is negative. N.D. not done

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