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.