fig4

Figure 4. Variant distribution according to functional classification and discrepancy between solid and liquid biopsy. Variants detected only in solid, only in liquid or in both were analysed for their functional impact on the corresponding protein, and were classified into 4 categories as follows: (1) damaging: a variant for which several published studies demonstrated a functional impact on the protein (activating or inhibiting) and where clinical information is also available confirming the impact; (2) potentially damaging: a variant for which only one publication has shown a functional impact based on an in vitro model and for which no clinical information is available; (3) unknown: a variant for which there are no publications associated with a functional impact and that is not known as a single nucleotide polymorphism in the NCBI dbSNP database; (4) polymorphism: a variant identified in the NCBI dbSNP database as a polymorphic variant with a minor allele frequency of at least 1%. NCBI: National Center for Biotechnology Information; dbSNP: Single Nucleotide Polymorphism Database