Skip to main content

Table 1 Description of somatically acquired point mutations detected in the DSRCT by whole-exome sequencing

From: A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

Chromosome position Gene symbol Variant description Variant type Frequency (tumor coverage) Coverage of leukocyte DNA dbSNP PolyPhen Sift Mutation taster
chr3:436494 CHL1 c.3033A>G, p.A111A Synonymous 35% (55×) 53×  –
chr6:134305546 TBPL1 c.315T>G, p.V105V Synonymous 23% (31×) 28×  –
chr12:34179763 ALG10 c.1335A>T, p.A445A Synonymous 43% (82×) 66×  –
chr1:45808899 TOE1 c.1058C>T, p.P353L Missense 20% (15×) 18× rs145913038 Benign Damaging Polymorphism
chr2:162875307 DPP4 c.1352C>T, p.P451L Missense 37% (41×) 46× Deleterious Tolerated Disease causing
chr5:126753368 MEGF10 c.1169G>C, p.G390C Missense 22% (82×) 39× Deleterious Damaging Disease causing
chr5:26915867 CDH9 c.394G>C, p.D132Y Missense 25% (71×) 75× Deleterious Disease causing
chr6:123319098 CLVS2 c.176G>A, p.R59Q Missense 40% (25×) 20× Deleterious Damaging Disease causing
chr8:106813312 ZFPM2 c.1002T>A, p.S334R Missense 28% (36×) 44× Deleterious Tolerated Disease causing
chr8:72983969 TRPA1 c.245T>C, p.I82T Missense 36% (45×) 35× Deleterious Damaging Disease causing
chr15:37385900 MEIS2 c.521G>A, p.R86Q Missense 26% (31×) 23× Possible damaging Damaging Disease causing
chr16:76495948 CNTNAP4 c.1210G>T, p.A404S Missense 33% (42×) 43× Benign Tolerated Disease causing
chr17:10300120 MYH8 c.4362G>T, p.K1454N Missense 26% (38×) 33× Deleterious Disease causing
chr19:53057457 ZNF808 c.1288G>T, p.E430Ter Nonsense 43% (30×) 27× Tolerated Polymorphism
chr20:43385680 RIMS4 c.455-2T>A 3’ splice site 28% (29×) 37×