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Table 1 Summary of rare pathogenic variant distribution across cohorts

From: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population

  EMCA NCC OHRM
Participantsa 297 2120 1486
Participants with variants after filterb 85 (28.6%) 628 (29.6%) 462 (31.1%)
Genes with variants after filterc 62 211 205
Loci with variantsd 73 485 371
Rare variant burden across participants in each cohorte 99 791 593
  1. Summary level data of participants from WES and rare variant analysis. The total number of participants included in each cohort (a). The total number of participants from “a” that had at least one rare variant that met criteria from Fig. 1 workflow, (b). The number of genes with at least one rare variant that met workflow criteria (c). The number of unique variants present after filtering using the bioinformatics pipeline in Fig. 1 (d). The total number of unique and non-unique rare variants present across the participants in the cohort (e)