Table S2.

Mutations detected in the CSF or tumor of each patient

PatientVolume of CSF analyzed (mL)DNA in CSF (ng)Sequencing methodMutationLocationGeneTranscriptProteincDNAMutant allele fraction in tumor (%)Mutant allele fraction in CSF (%)
CGLI 024245WESNM_144631.5 (ZNF513):c.413C > TExonZNF513NM_144631.5p.P138Lc.413C > T49Not detected
CGLI 037314WESNM_181523.2 (PIK3R1):c.1690A > GExonPIK3R1NM_181523.2p.N564Dc.1690A > G390.1
CGLI 068148WESNR_024604.1 (CLCA3P):c.446G > AExonCLCA3PNR_024604.1p.R149Qc.446G > A360.2
CGLI 115290WESNM_133450.3 (ANKS3):c.1738G > AExonANKS3NM_133450.3p.E580Kc.1738G > A470.3
CGLI 12571WESNM_003531.2 (HIST1H3C):c.83T > AExonHIST1H3CNM_003531.2p.K28Mc.83T > A440.2
CGLI 131.56WESNM_144965.1 (TTC16):c.1016T > AExonTTC16NM_144965.1p.V339Ec.1016T > A481.0
CGLI 147.5187PanelNM_000546.5 (TP53):c.638G > AExonTP53NM_000546.5p.R213Qc.638G > A5919.6
CGLI 155482WESNM_004990.3 (MARS):c.1487C > TExonMARSNM_004990.3p.T496Ic.1487C > T13Not detected
CGLI 203127WESNM_198229.2 (RGS12):c.2980C > TExonRGS12NM_198229.2p.R994Wc.2980C > T5252.6
CGLI 2258WESNM_001080522.2 (CC2D2A):c.1938G > AExonCC2D2ANM_001080522.2p.W646Xc.1938G > A54Not detected
CGLI 2510253WESNM_001795.3 (CDH5):c.1211G > AExonCDH5NM_001795.3p.S404Nc.1211G > A500.3
CGLI 26720PanelNM_005896.2 (IDH1):c.394C > TExonIDH1NM_005896.2p.R132Cc.394C > T430.3
CGLI 2812,361PanelNM_005896.2 (IDH1):c.395G > AExonIDH1NM_005896.2p.R132Hc.395G > A3333.0
CGLI 293.5206PanelNM_000546.5 (TP53):c.742C > TExonTP53NM_000546.5p.R248Wc.742C > T690.2
CGLI 3141,416PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T378.2
CGLI 352.5432PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T461.4
CGLI 365.5448PanelNM_000546.5 (TP53):c.742C > TExonTP53NM_000546.5p.R248Wc.742C > T6514.3
CGLI 398.5154WESNM_000268.3 (NF2):c.592C > TExonNF2NM_000268.3p.R198Xc.592C > T80Not detected
CGLI 401.51,169WESNM_000388.3 (CASR):c.2549C > TExonCASRNM_000388.3p.A850Vc.2549C > T452.8
CGLI 414.2587PanelNM_000546.5 (TP53):c.396G > CExonTP53NM_000546.5p.K132Nc.396G > C431.4
CGLI 420.7520WESNM_001848.2 (COL6A1):c.1417G > AExonCOL6A1NM_001848.2p.G473Rc.1417G > A390.5
CGLI 434.5100WESNM_000268.3 (NF2):c.1009C > TExonNF2NM_000268.3p.Q337*c.1009C > T61Not detected
CGLI 441.564WESNM_001004439.1 (ITGA11):c.2140C > TExonITGA11NM_001004439.1p.R714*c.2140C > T16Not detected
CGLI 476.829PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T4422.1
CGLI 4851,400PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T521.0
CGLI 505.6820PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T4718.8
CGLI 510.7564PanelNM_198253.2 (TERT):c.1–124C > TPromoterTERTNM_198253.2NAc.1–124C > T105.9
CGLI 559146WESNM_000314.4 (PTEN):c.388C > TExonPTENNM_000314.4p.R130*c.388C > T6633.2
CGLI 566.51,155WESNM_014691.2 (AQR):c.1746delTExonAQRNM_014691.2p.P582fsc.1746delT391.8
CGLI 58990WESNM_052853.3 (ADCK2):c.1057T > AExonADCK2NM_052853.3p.F353Ic.1057T > A23Not detected
CGLI 6081,335WESNM_004687.4 (MTMR4):c.2110C > GExonMTMR4NM_004687.4p.L704Vc.2110C > G4018.7
CGLI 61399WESNM_001122679.1 (TENM2):c.799G > AExonTENM2NM_001122679.1p.A267Tc.799G > A21Not detected
CGLI 634411WESNM_000264.3 (PTCH1):c.746+1C > ASplice sitePTCH1NM_000264.3NAc.746+1C > A71Not detected
CGLI 1013.514PanelNM_000546.5 (TP53):c.731G > AExonTP53NM_000546.5p.G244Dc.731G > A360.9
CGLI 2542.5168WESNM_021140.2 (KDM6A):c.4153C > TExonKDM6ANM_021140.2p.Q1385Xc.4153C > T9177.3
  • 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).