Need Help?

The mutational landscape of human somatic and germline cells

During the course of a lifetime normal human cells accumulate mutations. Here, using multiple samples from the same individuals we compared the mutational landscape in 29 anatomical structures from soma and the germline. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types but their absolute and relative contributions varied substantially. SBS18, potentially reflecting oxidative damage, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The mutation rate was lowest in spermatogonia, the stem cell from which sperm are generated and from which most genetic variation in the human population is thought to originate. This was due to low rates of ubiquitous mutation processes and may be partially attributable to a low cell division rate of basal spermatogonia. The results provide important insights into how mutational processes affect the soma and germline.

Request Access

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001003023 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00002383534 cram 2.7 GB
EGAF00002383535 cram 2.5 GB
EGAF00002383536 cram 4.7 GB
EGAF00002383537 cram 3.1 GB
EGAF00002383538 cram 3.4 GB
EGAF00002383539 cram 2.5 GB
EGAF00002383540 cram 2.7 GB
EGAF00002383541 cram 2.3 GB
EGAF00002383542 cram 3.2 GB
EGAF00002383543 cram 3.2 GB
EGAF00002383544 cram 3.0 GB
EGAF00002383545 cram 3.2 GB
EGAF00002383546 cram 3.3 GB
EGAF00002383547 cram 3.0 GB
EGAF00002383548 cram 2.1 GB
EGAF00002383549 cram 2.5 GB
EGAF00002383610 cram 3.0 GB
EGAF00002383611 cram 3.5 GB
EGAF00002383612 cram 3.7 GB
EGAF00002383613 cram 4.0 GB
EGAF00002383614 cram 3.5 GB
EGAF00002639684 cram 1.7 GB
EGAF00002639685 cram 1.6 GB
EGAF00002639714 cram 1.7 GB
EGAF00002639715 cram 1.7 GB
EGAF00002639716 cram 2.2 GB
EGAF00002639717 cram 2.1 GB
EGAF00002639718 cram 1.7 GB
EGAF00002639719 cram 1.9 GB
EGAF00002639720 cram 1.8 GB
EGAF00002639721 cram 1.6 GB
EGAF00002639722 cram 2.4 GB
EGAF00002639723 cram 2.4 GB
EGAF00002639724 cram 1.5 GB
EGAF00002639725 cram 1.5 GB
EGAF00003948035 cram 1.5 GB
EGAF00003948036 cram 1.9 GB
EGAF00003948037 cram 1.5 GB
EGAF00003948038 cram 1.4 GB
EGAF00003948039 cram 1.5 GB
EGAF00003948040 cram 1.8 GB
EGAF00003948041 cram 1.5 GB
EGAF00003948042 cram 2.2 GB
EGAF00003948043 cram 1.5 GB
EGAF00003948044 cram 1.4 GB
EGAF00003948045 cram 1.9 GB
EGAF00003948046 cram 1.7 GB
EGAF00003948047 cram 2.1 GB
EGAF00003948048 cram 1.5 GB
EGAF00003948049 cram 2.1 GB
EGAF00003948050 cram 1.7 GB
EGAF00003948051 cram 1.6 GB
EGAF00003948074 cram 1.6 GB
EGAF00003948075 cram 1.6 GB
EGAF00003948076 cram 1.4 GB
EGAF00003948077 cram 1.2 GB
EGAF00003948078 cram 1.3 GB
EGAF00003948079 cram 1.5 GB
EGAF00003948080 cram 1.3 GB
EGAF00003948081 cram 973.1 MB
EGAF00003948082 cram 1.2 GB
EGAF00003948083 cram 1.2 GB
EGAF00003948084 cram 1.3 GB
EGAF00003948085 cram 1.4 GB
EGAF00003948086 cram 1.5 GB
EGAF00003948087 cram 1.2 GB
EGAF00003948088 cram 1.3 GB
EGAF00003948089 cram 1.1 GB
EGAF00003948090 cram 1.3 GB
EGAF00003948091 cram 1.4 GB
EGAF00003948092 cram 1.2 GB
EGAF00003948093 cram 1.3 GB
EGAF00003948094 cram 973.3 MB
EGAF00003948095 cram 1.2 GB
EGAF00003948096 cram 1.1 GB
EGAF00003948097 cram 1.2 GB
EGAF00003948098 cram 1.3 GB
EGAF00003948100 cram 1.3 GB
EGAF00003948101 cram 1.1 GB
EGAF00003948102 cram 1.3 GB
EGAF00003948103 cram 1.3 GB
EGAF00003948104 cram 1.2 GB
EGAF00003948105 cram 1.3 GB
EGAF00003948106 cram 1.3 GB
EGAF00003948107 cram 1.3 GB
EGAF00003948108 cram 1.1 GB
EGAF00003948109 cram 1.8 GB
EGAF00003948110 cram 1.4 GB
EGAF00003948111 cram 1.2 GB
EGAF00003948112 cram 1.2 GB
EGAF00003948113 cram 1.2 GB
EGAF00003948114 cram 1.4 GB
EGAF00003948115 cram 1.2 GB
EGAF00003948116 cram 1.2 GB
EGAF00003948117 cram 1.4 GB
EGAF00003948118 cram 1.4 GB
EGAF00003948119 cram 1.3 GB
EGAF00003948120 cram 1.3 GB
EGAF00004672301 cram 939.1 MB
EGAF00004672302 cram 1.2 GB
EGAF00004672303 cram 1.6 GB
EGAF00004672304 cram 948.7 MB
EGAF00004672306 cram 1.3 GB
EGAF00004672307 cram 1.8 GB
EGAF00004672313 cram 1.6 GB
EGAF00004672314 cram 1.3 GB
EGAF00004672315 cram 1.6 GB
EGAF00004672316 cram 1.8 GB
EGAF00004672317 cram 1.8 GB
EGAF00004672318 cram 1.3 GB
EGAF00004672319 cram 1.6 GB
EGAF00004672320 cram 1.4 GB
EGAF00004678264 cram 2.0 GB
EGAF00004678265 cram 1.8 GB
EGAF00004678266 cram 2.3 GB
EGAF00004678267 cram 2.1 GB
EGAF00004678268 cram 2.3 GB
EGAF00004678269 cram 2.3 GB
EGAF00004678270 cram 2.0 GB
EGAF00004678271 cram 2.4 GB
EGAF00004678272 cram 1.9 GB
EGAF00004678273 cram 1.9 GB
EGAF00004678274 cram 2.2 GB
EGAF00004678275 cram 2.0 GB
EGAF00004678276 cram 2.5 GB
EGAF00004678277 cram 2.5 GB
EGAF00004678278 cram 1.9 GB
EGAF00004678279 cram 1.8 GB
EGAF00004678280 cram 1.7 GB
EGAF00004678281 cram 1.7 GB
EGAF00004678282 cram 2.1 GB
EGAF00004678283 cram 2.5 GB
EGAF00004678284 cram 2.2 GB
EGAF00004678285 cram 2.1 GB
EGAF00004678286 cram 2.1 GB
EGAF00004678287 cram 2.6 GB
EGAF00004678288 cram 1.9 GB
EGAF00004678289 cram 1.8 GB
EGAF00004678290 cram 1.6 GB
EGAF00004678291 cram 1.6 GB
EGAF00004678292 cram 1.8 GB
EGAF00004678293 cram 1.7 GB
EGAF00004678294 cram 2.4 GB
EGAF00004678295 cram 2.1 GB
EGAF00004678296 cram 2.1 GB
EGAF00004678297 cram 1.8 GB
EGAF00004678298 cram 2.1 GB
EGAF00004678299 cram 1.9 GB
EGAF00004678300 cram 2.0 GB
EGAF00004678301 cram 2.6 GB
EGAF00004678302 cram 2.2 GB
EGAF00004678303 cram 1.8 GB
EGAF00004678304 cram 1.8 GB
EGAF00004678305 cram 1.9 GB
EGAF00004678306 cram 2.3 GB
EGAF00004678307 cram 2.0 GB
EGAF00004678308 cram 2.2 GB
157 Files (291.9 GB)