Table 2.
Case ID | Exon | Genomic Coordinate | Alt | Ref Read Depth | Alt Read Depth | cDNA Nucleotide Change | AA Change | Mutation Type |
---|---|---|---|---|---|---|---|---|
(%) a | ||||||||
305 | 7 | 17:7,577,541 | 58.43 | 15,734 | 9194 | c.728_739delTGGGCGGCATGA | p.Met243_Met247del | In-frame |
INDEL | ||||||||
519 | 8 | 17:7,577,128 | 47.84 | 6377 | 3051 | c.795_809delGGGACGGAACAGCTT | p.Gly266_Phe270del | In-frame |
INDEL | ||||||||
627 | 8 | 17:7,577,111 | 22.34 | 4692 | 1048 | c.826_827GC>AT | p.Ala276Ile | Missense |
738 | 10 | 17:7,574,004 | 53.41 | 4606 | 2460 | c.1022insT | p.Arg342Profs*5 | Frameshift |
INDEL | ||||||||
751 | 11 | 17:7,572,928 | 8.32 | 2994 | 249 | c.1180delT | p.Ter394Aspfs*28 | Frameshift |
INDEL | ||||||||
761 | 6 | 17:7,578,275 | 73.38 | 7205 | 5287 | c.573insT | p.Gln192Serfs*17 | Frameshift |
INDEL |
a Alternative allele frequency; NGS: next-generation sequencing; HGSOC: high-grade serous ovarian cancer; Ref: reference allele; Alt: alternative allele; AA: amino acid; fs: frameshift; del: deletion; ins: insertion; INDEL: insertion/deletion; Met: methionine; Gly: glycine; Phe: phenylalanine; Ala: alanine; Ile: isoleucine; Arg: arginine; Pro: proline; Ter: termination; Asp: aspartic acid; Gln: glutamine; Ser: serine.