Table 1.

List of mutations in atypical choroid plexus papilloma (aCPP) and choroid plexus carcinoma (CPC) samples

Gene	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	dbSNP/dbVar ID	Genotype	Tumor allelic fraction
aCPP, 2009 sample
NCOR1	17, somatic	NM_006311.3: c.14G > T	NP_006302.2: p. Gly5Val	Single nucleotide	Missense	rs76145228	LOH by UPD	21%
NCOR1	17, somatic	NM_006311.3: c.59A > C	NP_006302.2: p. Tyr20Ser	Single nucleotide	Missense	rs73281920	LOH by UPD	14%
HDAC9	7, somatic	NM_178425.3: c.743G > A	NP_848512.1: p. Arg248Gln	Single nucleotide	Missense	rs759089852	Heterozygous	4%
TP53	17, germline	NM_000546.6: c.742C > T	NP_000537.3: p. Arg248Trp	Single nucleotide	Missense	rs121912651	LOH by UPD
CPC, 2017 sample
NCOA3	20, somatic	NM_181659.2: c.3788_3789ins ACA	NP_858045.1: p.Gln1263	Indel	Frameshift	rs753491875	Heterozygous	6%
TP53	17, germline	NM_000546.6: c.742C > T	NP_000537.3: p. Arg248Trp	Single nucleotide	Missense	rs121912651	LOH by UPD

(LOH) Loss of heterozygosity; (UPD) uniparental disomy.