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. 2015 Jul 20;112(31):9704–9709. doi: 10.1073/pnas.1511694112

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.