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. 2015 Oct;1(1):a000380. doi: 10.1101/mcs.a000380

Table 1.

Point mutations predicted to introduce amino acid changes

GeneName Chr GRCh37 position Ref>Alt GenBank accession Predicted effect Class WGS reads (mut/total) VAF in tumor %
Tumor Normal
ATP6AP1 chrX 153664066 C>A NM_001183 Y414* Nonsense 18/30 0/16 60
GFRA2 chr8 21608169 G>A NM_001495 S242F Missense 18/49 0/27 37
TXNDC16 chr14 52937263 A>C NM_020784 L483* Nonsense 12/40 0/44 30
BRD7 chr16 50353864 G>A NM_001173984 R613* Nonsense 7/34 0/27 21
MAP3K9 chr14 71199588 G>A NM_033141 T847M Missense 8/26 0/18 31
PPFIBP2 chr11 7670871 C>T NM_003621 R703W Missense 11/35 0/29 31
UBE2H chr7 129497389 C>T NM_003344 C87Y Missense 12/47 0/47 26
MXRA5 chrX 3240233 G>A NM_015419 R1165W Missense 6/32 0/22 19
ITGA1 chr5 52225500 G>A NM_181501 E914K Missense 9/65 0/33 14

WGS, whole-genome sequencing; VAF, variant allele frequency.