Figure 1.

Flowchart of the sample selection process for mutation screening of YEATS4, ZNHIT1, DMAP1, and ACTL6A

Altogether, 860 individuals with ULs entered the study. SET I contained 106 individuals with no UL driver mutations in their tumors (“UNKNOWN ULs”). RNA-seq or WGS data available from 75 individuals revealed one ACTL6A germline mutation. The remaining 31 individuals entered the H2A.Z IHC pre-screening and/or the Sanger sequencing. From SET II, all the UNKNOWN tumors from 29 individuals were selected for the H2A.Z IHC and the subsequent Sanger sequencing. Sanger sequencing revealed two individuals with a YEATS4 and four with a DMAP1 germline mutation. Selection criteria for the studied individuals is explained in a more detailed manner in the material and methods section.