Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

Table 1 Confirmed somatic mutations

Gene symbol	UniProt accession^a	Genomic coordinate^b	Exon	Mutation (cDNA)	Mutation (protein)	Allele frequency	Consensus effect^c
NF1	P21359	chr17:29665119	44	c.6781_6782insTT	p.His2240Leufs*4	100	n/a^d
MAX	P61244	chr14:65560437	3	c.160delC	p.Gln54Lysfs*10	91	n/a^d
RTN4	Q9NQC3	chr2:55200745	8	c.3486_3490delAGAT	p.Asp1163Ilefs2	36	n/a^d
CCDC66	A2RUB6	chr3:56650054	13	c.1818_1819insCCT	p.Ser606_Lys607insPro	29	n/a^d
MVD	P53602	chr16:88725087	2	c.112T>A	p.S38T	58	Deleterious
MAFA	Q8NHW3	chr8:144511807	1	c.770A>T	p.Q257L	56	Likely deleterious
RNF123	Q5XPI4	chr3:49751544	31	c.2947T>G	p.Y983D	52	Likely deleterious
SPIN4	Q56A73	chrX:62570610	1	c.89G>T	p.R30L	47	Likely deleterious
SELP	P16109	chr1:169565261	12	c.2003G>T	p.C668F	49	Likely deleterious

ISSN: 1471-2407