Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals. Here, we present MosaicBase, a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals. Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications. MosaicBase supports the query of variants with Online Mendelian Inheritance in Man (OMIM) entries, genomic coordinates, gene symbols, or Entrez IDs. We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region. By analyzing the variants collected in MosaicBase, we find that mosaic variants that directly contribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes, in terms of their genomic distribution, mutation signatures, and fraction of mutant cells. MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population. MosaicBase is publicly available at http://mosaicbase.com/ or http://49.4.21.8:8000.
合子后突变导致的嵌合现象在人类基因组中广泛存在，在人类疾病发生中有重要作用。目前已有的嵌合突变数据库只针对癌症相关突变，关于非癌症疾病领域和健康人群携带的非癌症嵌合突变尚无相关数据库资源。我们在此发布MosaicBase数据库，本数据库全面收集了已发表的266种非癌症疾病相关的6698个嵌合突变和442名健康人中报导的27991个嵌合突变并提供了丰富的注释信息。本数据库也囊括了从383篇嵌合突变相关文献中手工整理的每个突变携带者的基因型和表型信息。MosaicBase目前支持使在线人类孟德尔疾病遗传数据库（OMIM）疾病编号、基因组坐标、基因名、Entrez编号等进行搜索。MosaicBase也内置了支持用户自由定制的基因组浏览器用来对任何基因组区域内的所有嵌合突变进行可视化。通过分析MosaicBase中收集的所有嵌合突变，我们发现与健康人群或表型较轻的突变携带者中检测到的嵌合突变相比，能直接导致完整疾病表型的嵌合突变具有明显不同的基因组分布规律、碱基替换特征和突变等位基因比例。MosaicBase不仅有助于医护人员进行遗传咨询和诊断，而且为研究健康人群的嵌合突变提供了基准资源。MosaicBase可以通过http://mosaicbase.com/或http://49.4.21.8:8000进行访问。





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