Extended Data Fig. 2: Splicing outliers with a rare variant in the vicinity are enriched for replicated events.

a, Enrichment of replicated splicing outliers across tissues with respect to the distance to the nearest rare variant. Note that there is an enrichment up to a distance of 250 bp. ‘Number of tissues’ denotes the minimum number of tissues from an individual with a shared splicing outlier such that the outlier is considered to be replicated. b, Replication rate of aberrant splicing events between tissues (n = 49) of a sample for all aberrant splicing events (red) compared with aberrant splicing events that contain a rare variant within a 250 bp window (blue). Filtering for aberrant splicing events with a rare variant reduces the amount of singletons probably by filtering out technical artifacts. Center line, median; box limits, first and third quartiles; whiskers span all data within 1.5 interquartile ranges of the lower and upper quartiles. c, Percentage of singletons (aberrant splicing events that are observed only in one tissue) among all outliers (in red) and among outliers with a rare variant (in blue) for each tissue. There are nearly no replicated RNA-seq samples in the GTEx dataset. Therefore, among all singleton events, genuinely tissue-specific aberrant splicing events are hard to distinguish from non-reproducible technical artifacts.