Table 2.
Detection of CSF-tDNA using WES
Patient and sample type | Mutation | Genomic coordinate | Distinct coverage (SafeSeqS) | Mutant (%; SafeSeqS) | Distinct coverage (WES) | Mutant (%; WES) |
CGLI 03 | ||||||
CSF | PIK3R1 p.N564D, c.A1690G | Chr5:67591097 | 57,921 | 0.1 | 76 | 0.0 |
Normal | PIK3R1 p.N564D, c.A1690G | Chr5:67591097 | 284 | 0.0 | 61 | 0.0 |
Primary tumor | PIK3R1 p.N564D, c.A1690G | Chr5:67591097 | 377 | 38.7 | 147 | 12.9 |
CGLI 29 | ||||||
CSF | TP53 p.R248W, c.C742T | Chr17:7577539 | 13,964 | 0.2 | 64 | 0.0 |
Normal | TP53 p.R248W, c.C742T | Chr17:7577539 | NA | 0.0 | 55 | 0.0 |
Primary tumor | TP53 p.R248W, c.C742T | Chr17:7577539 | 6,418 | 69.0 | 58 | 70.7 |
CGLI 36 | ||||||
CSF | TP53 p.R248W, c.C742T | Chr17:7577539 | 376,434 | 14.3 | 74 | 9.5 |
Normal | TP53 p.R248W, c.C742T | Chr17:7577539 | 57,818 | 0.0 | 75 | 0.0 |
Primary tumor | TP53 p.R248W, c.C742T | Chr17:7577539 | 44,981 | 65.0 | 25 | 72.0 |
CGLI 55 | ||||||
CSF | PTEN p.R130*, c.C388T | Chr10:89692904 | 251,609 | 33.2 | 63 | 42.9 |
Primary tumor | PTEN p.R130*, c.C388T | Chr10:89692904 | 91,515 | 65.9 | 56 | 66.1 |
Genomic coordinates refer to the human reference genome hg19 release (Genome Reference Consortium GRCh37, February of 2009). NA, not available.