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

Table S2.

Mutations detected in the CSF or tumor of each patient

Patient Volume of CSF analyzed (mL) DNA in CSF (ng) Sequencing method Mutation Location Gene Transcript Protein cDNA Mutant allele fraction in tumor (%) Mutant allele fraction in CSF (%)
CGLI 02 4 245 WES NM_144631.5 (ZNF513):c.413C > T Exon ZNF513 NM_144631.5 p.P138L c.413C > T 49 Not detected
CGLI 03 7 314 WES NM_181523.2 (PIK3R1):c.1690A > G Exon PIK3R1 NM_181523.2 p.N564D c.1690A > G 39 0.1
CGLI 06 8 148 WES NR_024604.1 (CLCA3P):c.446G > A Exon CLCA3P NR_024604.1 p.R149Q c.446G > A 36 0.2
CGLI 11 5 290 WES NM_133450.3 (ANKS3):c.1738G > A Exon ANKS3 NM_133450.3 p.E580K c.1738G > A 47 0.3
CGLI 12 5 71 WES NM_003531.2 (HIST1H3C):c.83T > A Exon HIST1H3C NM_003531.2 p.K28M c.83T > A 44 0.2
CGLI 13 1.5 6 WES NM_144965.1 (TTC16):c.1016T > A Exon TTC16 NM_144965.1 p.V339E c.1016T > A 48 1.0
CGLI 14 7.5 187 Panel NM_000546.5 (TP53):c.638G > A Exon TP53 NM_000546.5 p.R213Q c.638G > A 59 19.6
CGLI 15 5 482 WES NM_004990.3 (MARS):c.1487C > T Exon MARS NM_004990.3 p.T496I c.1487C > T 13 Not detected
CGLI 20 3 127 WES NM_198229.2 (RGS12):c.2980C > T Exon RGS12 NM_198229.2 p.R994W c.2980C > T 52 52.6
CGLI 22 5 8 WES NM_001080522.2 (CC2D2A):c.1938G > A Exon CC2D2A NM_001080522.2 p.W646X c.1938G > A 54 Not detected
CGLI 25 10 253 WES NM_001795.3 (CDH5):c.1211G > A Exon CDH5 NM_001795.3 p.S404N c.1211G > A 50 0.3
CGLI 26 7 20 Panel NM_005896.2 (IDH1):c.394C > T Exon IDH1 NM_005896.2 p.R132C c.394C > T 43 0.3
CGLI 28 1 2,361 Panel NM_005896.2 (IDH1):c.395G > A Exon IDH1 NM_005896.2 p.R132H c.395G > A 33 33.0
CGLI 29 3.5 206 Panel NM_000546.5 (TP53):c.742C > T Exon TP53 NM_000546.5 p.R248W c.742C > T 69 0.2
CGLI 31 4 1,416 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 37 8.2
CGLI 35 2.5 432 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 46 1.4
CGLI 36 5.5 448 Panel NM_000546.5 (TP53):c.742C > T Exon TP53 NM_000546.5 p.R248W c.742C > T 65 14.3
CGLI 39 8.5 154 WES NM_000268.3 (NF2):c.592C > T Exon NF2 NM_000268.3 p.R198X c.592C > T 80 Not detected
CGLI 40 1.5 1,169 WES NM_000388.3 (CASR):c.2549C > T Exon CASR NM_000388.3 p.A850V c.2549C > T 45 2.8
CGLI 41 4.25 87 Panel NM_000546.5 (TP53):c.396G > C Exon TP53 NM_000546.5 p.K132N c.396G > C 43 1.4
CGLI 42 0.75 20 WES NM_001848.2 (COL6A1):c.1417G > A Exon COL6A1 NM_001848.2 p.G473R c.1417G > A 39 0.5
CGLI 43 4.5 100 WES NM_000268.3 (NF2):c.1009C > T Exon NF2 NM_000268.3 p.Q337* c.1009C > T 61 Not detected
CGLI 44 1.5 64 WES NM_001004439.1 (ITGA11):c.2140C > T Exon ITGA11 NM_001004439.1 p.R714* c.2140C > T 16 Not detected
CGLI 47 6.8 29 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 44 22.1
CGLI 48 5 1,400 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 52 1.0
CGLI 50 5.6 820 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 47 18.8
CGLI 51 0.75 64 Panel NM_198253.2 (TERT):c.1–124C > T Promoter TERT NM_198253.2 NA c.1–124C > T 10 5.9
CGLI 55 9 146 WES NM_000314.4 (PTEN):c.388C > T Exon PTEN NM_000314.4 p.R130* c.388C > T 66 33.2
CGLI 56 6.5 1,155 WES NM_014691.2 (AQR):c.1746delT Exon AQR NM_014691.2 p.P582fs c.1746delT 39 1.8
CGLI 58 9 90 WES NM_052853.3 (ADCK2):c.1057T > A Exon ADCK2 NM_052853.3 p.F353I c.1057T > A 23 Not detected
CGLI 60 8 1,335 WES NM_004687.4 (MTMR4):c.2110C > G Exon MTMR4 NM_004687.4 p.L704V c.2110C > G 40 18.7
CGLI 61 3 99 WES NM_001122679.1 (TENM2):c.799G > A Exon TENM2 NM_001122679.1 p.A267T c.799G > A 21 Not detected
CGLI 63 4 411 WES NM_000264.3 (PTCH1):c.746+1C > A Splice site PTCH1 NM_000264.3 NA c.746+1C > A 71 Not detected
CGLI 101 3.5 14 Panel NM_000546.5 (TP53):c.731G > A Exon TP53 NM_000546.5 p.G244D c.731G > A 36 0.9
CGLI 254 2.5 168 WES NM_021140.2 (KDM6A):c.4153C > T Exon KDM6A NM_021140.2 p.Q1385X c.4153C > T 91 77.3

NA, not available; panel, directed sequencing of codons 130–139 of IDH1; codons 126–155, 144–178, and 250–262 of IDH2; all coding exons of TP53; and the TERT promoter (Materials and Methods).