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Table 3 Mutations observed in genes reported in COSMIC Cancer Gene Census (CGC)

From: Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

Sample

Missense mutations

Nonsense mutations

Number of SNVs

Cosmic CGC genes

Number of SNVs

Cosmic CGC genes

1084_P0

2

BCLAF1, MUC4

–

–

1084_T0

3

CARD11, CCR4, KDSR

–

–

1249_P0

2

BCLAF1a, MUC4, RGPD3b

–

–

1249_T0

1

COL3A1

–

–

1494_P0

–

–

–

–

1494_T0

2

KAT6A, PPARG

1

TP53

1524_P0

3

BCLAF1a, KMT2C, MUC4

–

–

1524_T0

4

MUC4, NOTCH1, PIK3CA, TP53

–

–

065_P0

–

–

–

–

098_P0

2

BCLAF1a, RGPD3b

–

–

  1. aThe exact mutation for BCLAF1 (c.G2243T: p.R748L)
  2. bThe exact mutation for RGPD3 (c.T2811G: p.S937R)