File description: raw_data proteomics_annotation: sample annotation. proteomics_not_normalized: Proteomics intensity matrix, gene IDs (names). proteingroups_not_normalized: Proteomics intensity matrix, Uniprot IDs. raw_counts: RNA-seq count matrix. Patient_HPO_phenotypes: Phenotype data recorded using HPO terms for genetically diagnosed cases. enrichment_proportions_variants: Results of rare variant enrichment/proportion analysis calculated on the full dataset. patient_variant_hpo_data: Gene annotation for all individuals from the study. Since the genetic data are not publicly shareable, we provide only gene-level information for outlier genes only. datasets disease_genes: List of Mendelian disease genes aggregated from several studies. HGNC_mito_groups: Subset of HGNC gene groups related to mitochondria. hgnc_mapping: mapping between Uniprot IDs and gene names FRASER_counts--hg19--gencode34 geneCounts: gene-level counts. k_j: split counts spanning from one exon to another. k_theta: non-split counts covering a splice site. n_psi3: total split counts from a given acceptor site. n_psi5: total split counts from a given donor site. n_theta: total split and non-split counts for a given splice site. Sample annotation describing each sample from the dataset. Description file with global information from the dataset. Tissue: Fibroblast, NHDF cell line Organism: Homo sapiens Genome assembly: hg19 Gene annotation: gencode29 / gencode34 / Uniprot Dataset contact: Holger Prokisch, prokisch@helmholtz-muenchen.de; Dmitrii Smirnov, dmitrii.smirnov@helmholtz-muenchen.de Citation: Cite both the resource using Zenodo's citation and the publication under References