Welcome to SomaMutDB 2.0!

A database of somatic mutations in normal human tissues

Data:

Sample information

Reference Tissue Method hg19/GRCh37 hg38/GRCh38
A body map of somatic mutagenesis in morphologically normal human tissues Colon, Esophagus, Liver, Lung, Pancreas, Rectum, Small intestine, Stomach LCM Download Download
Accurate identification of single nucleotide variants in whole genome amplified single cells Fibroblast Clone, MDA Download Download
Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands Blood, Brain, Testicle META-CS Download Download
Aging and neurodegeneration are associated with increased mutations in single human neurons Brain MDA Download Download
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability Brain Bulk Download Download
Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue Prostate Bulk Download Download
Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients Blood, Bone marrow Clone Download Download
APOBEC mutagenesis is a common process in normal human small intestine Small intestine LCM Download Download
Clonal dynamics of haematopoiesis across the human lifespan Blood, Bone marrow Clone Download Download
Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue Colon, Liver Clone Download Download
Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox Blood, Bone marrow, Small intestine Clone, PTA Download Download
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis Brain Clone, MDA Download Download
Diverse mutational landscapes in human lymphocytes Blood, Bone marrow, Spleen, Tonsil Clone Download Download
Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin Skin LCM Download Download
Evolutionary histories of breast cancer and related clones Breast LCM Download Download
Extensive heterogeneity in somatic mutation and selection in the human bladder Bladder LCM Download Download
Inherent mosaicism and extensive mutation of human placentas Placenta Bulk, LCM Download Download
iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations iPSC Clone Download Download
Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions Embryonic stem cell Clone Download Download
Macroscopic somatic clonal expansion in morphologically normal human urothelium Bladder, Ureter LCM Download Download
Maintenance of genome sequence integrity in long- and short-lived rodent species Fibroblast MDA Download Download
Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis Blood, Bone marrow, Small intestine Clone Download Download
Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells iPSC Clone Download Download
One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin iPSC Clone Download Download
Population dynamics of normal human blood inferred from somatic mutations Blood, Bone marrow Clone Download Download
Precancerous liver diseases do not cause increased mutagenesis in liver stem cells Liver Clone Download Download
Scrutiny of genome-wide somatic mutation profiles in centenarians identifies the key genomic regions for human longevity Blood Bulk Download Download
Single molecule, quantitative detection of low-abundance somatic mutations by high- throughput sequencing Fibroblast, Liver SMM-Seq Download Download
Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers Breast MDA Download Download
Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking Lung MDA Download Download
Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver Liver Clone, MDA Download Download
Single-cell whole-genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across the human lifespan Blood MDA Download Download
Somatic evolution in non-neoplastic IBD-affected colon Colon LCM Download Download
Somatic genomic changes in single Alzheimer’s disease neurons Brain MDA, PTA Download Download
Somatic inflammatory gene mutations in human ulcerative colitis epithelium Colon Clone Download Download
Somatic mutagenesis in satellite cells associates with human skeletal muscle aging Skeletal muscle Clone Download Download
Somatic mutation landscapes at single-molecule resolution Bladder, Blood, Brain, Colon, Testicle NanoSeq Download Download
Somatic mutations and clonal dynamics in healthy and cirrhotic human liver Liver LCM Download Download
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity Heart MDA Download Download
Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells iPSC Clone Download Download
The genomic landscapes of individual melanocytes from human skin Skin G&T-Seq Download Download
The mutational landscape of human somatic and germline cells Adipocytes, Adrenal gland, Bladder, Colon, Esophagus, Heart, Kidney, Liver, Lung, Pancreas, Prostate, Skin, Small intestine, Stomach, Testicle, Thyroid, Ureter LCM Download Download
The mutational landscape of normal human endometrial epithelium Endometrium LCM Download Download
Tissue-specific mutation accumulation in human adult stem cells during life Colon, Liver, Small intestine Clone Download Download
Tobacco smoking and somatic mutations in human bronchial epithelium Lung Clone Download Download
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin Fibroblast, Skin Clone Download Download
Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type Adipocytes, Kidney, Skin Clone Download Download

Public available mutational signatures:

Methods: Signature Analysis

Method Description
SomaticSignatures The SomaticSignatures package identifies mutational signatures with flexibility in the matrix decomposition algorithms.
hdp An R package for mutational signature analysis by modeling categorical count data with Hierarchical Dirichlet Process.
Signature_Tools_Lib An R package for mutational signatures analysis, providing latest algorithms for signature fit and extraction.
SigProfiler De novo extraction of mutational signatures from data generated in a matrix format, providing a basis for characterizing mutational signatures from cancer-derived somatic mutational catalogues, which paving the way to insights into the common pathogenetic mechanism underlying all cancers.
mmsig A flexible and easily interpretable mutational signature analysis tool.
MutationalPatterns The MutationalPatterns R package provides a comprehensive set of flexible functions for easy finding and plotting of mutational patterns in mutation catalogues.

Methods: Pathogenic Prediction

Model Description
AlphaMissense Provides pathogenicity scores (0 to 1) and rankscores for missense variants, with higher values indicating greater likelihood of pathogenicity.
DEOGEN2 Predicts variant deleteriousness with scores (0 to 1) and rankscores, where higher values suggest increased pathogenicity.
Eigen Offers raw and Phred-scaled scores for variant deleteriousness in coding regions, based on conservation and other genomic features.
MPC Provides scores (0 to 5) and rankscores for missense variants, with higher scores indicating greater pathogenicity.
DANN Uses deep neural networks to generate scores (0 to 1) and rankscores, where higher values denote higher pathogenicity likelihood.
M-CAP Predicts pathogenicity of rare missense variants with scores (0 to 1) and rankscores, higher values indicating greater deleteriousness.
MetaLR A meta-predictor providing scores (0 to 1) and rankscores by integrating multiple tools, with higher values suggesting pathogenicity.
MetaRNN A meta-predictor using recurrent neural networks for scores (0 to 1) and rankscores, indicating pathogenicity likelihood.
MetaSVM A meta-predictor using support vector machines for scores (0 to 1) and rankscores, with higher values denoting pathogenicity.
GenoCanyon Provides scores (0 to 1) for variant functionality prediction, where higher scores suggest greater impact.
CADD Offers raw and PHRED-scaled scores (1 to 99) for variant deleteriousness, with higher scores indicating pathogenicity.
LIST-S2 Predicts pathogenicity with scores (0 to 1) and rankscores, where higher values indicate greater deleteriousness.
REVEL An ensemble method providing scores (0 to 1) and rankscores for rare missense variants, with higher scores suggesting pathogenicity.
PrimateAI Uses deep learning on primate genomes for scores (0 to 1) and rankscores, indicating pathogenicity likelihood.
BayesDel Provides scores with and without allele frequency for deleteriousness prediction, higher scores indicating pathogenicity.
EVE Uses an evolutionary model for scores (0 to 1) and rankscores, with higher values suggesting pathogenicity.
MVP Predicts pathogenicity with scores (0 to 1) and rankscores, where higher scores indicate greater deleteriousness.
FINSURF Provides scores (0 to 1) for variant functionality, with higher values suggesting greater impact.
MutationTaster Predicts disease-causing probability (0-100%), with higher percentages indicating stronger pathogenic predictions.
CanDrA Combines prediction scores and categories (Passenger/Driver) for cancer-related variants, higher scores suggesting pathogenicity.
FATHMM Provides coding and non-coding scores (0 to 1) using multiple feature groups, with higher scores indicating pathogenicity.
©2025 The Dong Lab, MIBAM, University of Minnesota. All rights reserved.
©2021 Vijg-lab, a member of the department of genetics, Albert Einstein College of Medicine. All rights reserved.