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The evolving mutational landscape of normal human esophagus

The extent to which cells in normal tissues accumulate mutations during life is poorly understood. Some mutant cells expand into clones that can be detected by genome sequencing. We mapped mutant clones in normal esophageal epithelium from nine donors aged 20-75. Somatic mutations accumulate with age and are mainly caused by intrinsic mutational processes. We found strong Darwinian selection of clones carrying mutations in 14 cancer genes, with tens to hundreds of such clones per square centimeter. By middle age, clones with cancer-associated mutations cover most of the epithelium, with NOTCH1 and TP53 mutations affecting 40% and 10% of all cells, respectively. Remarkably, the prevalence of NOTCH1 mutations in normal esophagus is several times higher than in esophageal cancers. The esophagus emerges as an evolving patchwork of mutant clones that colonize the majority of the epithelium, with implications for our understanding of cancer and ageing.

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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
EGAS00001001933 Other

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
EGAF00001792832 cram 741.6 MB
EGAF00001792833 cram 815.5 MB
EGAF00001792834 cram 826.3 MB
EGAF00001792835 cram 837.6 MB
EGAF00001792836 cram 885.3 MB
EGAF00001792837 cram 850.8 MB
EGAF00001792838 cram 752.2 MB
EGAF00001792839 cram 820.4 MB
EGAF00001792840 cram 775.5 MB
EGAF00001792841 cram 738.0 MB
EGAF00001792842 cram 622.3 MB
EGAF00001792843 cram 701.3 MB
EGAF00001792844 cram 681.6 MB
EGAF00001792845 cram 661.8 MB
EGAF00001792846 cram 696.9 MB
EGAF00001792847 cram 788.1 MB
EGAF00001792848 cram 742.3 MB
EGAF00001792849 cram 819.3 MB
EGAF00001792850 cram 817.0 MB
EGAF00001792851 cram 831.2 MB
EGAF00001792852 cram 888.7 MB
EGAF00001792853 cram 868.5 MB
EGAF00001792854 cram 794.2 MB
EGAF00001792855 cram 898.4 MB
EGAF00001792856 cram 849.7 MB
EGAF00001792857 cram 779.2 MB
EGAF00001792858 cram 771.8 MB
EGAF00001792859 cram 807.3 MB
EGAF00001792860 cram 808.0 MB
EGAF00001792861 cram 765.6 MB
EGAF00001792862 cram 778.3 MB
EGAF00001792863 cram 849.2 MB
EGAF00001792864 cram 779.6 MB
EGAF00001792865 cram 744.8 MB
EGAF00001792866 cram 750.2 MB
EGAF00001792867 cram 826.3 MB
EGAF00001792868 cram 804.0 MB
EGAF00001792869 cram 785.9 MB
EGAF00001792870 cram 787.8 MB
EGAF00001792871 cram 804.6 MB
EGAF00001792872 cram 848.4 MB
EGAF00001792873 cram 891.1 MB
EGAF00001792874 cram 696.3 MB
EGAF00001792875 cram 780.1 MB
EGAF00001792876 cram 846.0 MB
EGAF00001792877 cram 798.0 MB
EGAF00001792878 cram 703.8 MB
EGAF00001792879 cram 781.0 MB
EGAF00001792880 cram 908.3 MB
EGAF00001792881 cram 847.4 MB
EGAF00001792882 cram 758.0 MB
EGAF00001792883 cram 707.3 MB
EGAF00001792884 cram 921.9 MB
EGAF00001792885 cram 1.0 GB
EGAF00001792886 cram 899.9 MB
EGAF00001792887 cram 1.0 GB
EGAF00001792888 cram 905.6 MB
EGAF00001792889 cram 841.9 MB
EGAF00001792890 cram 750.1 MB
EGAF00001792891 cram 790.0 MB
EGAF00001792892 cram 798.3 MB
EGAF00001792893 cram 797.1 MB
EGAF00001792894 cram 852.1 MB
EGAF00001792895 cram 756.3 MB
EGAF00001792896 cram 802.4 MB
EGAF00001792897 cram 716.7 MB
EGAF00001792898 cram 709.9 MB
EGAF00001792899 cram 761.5 MB
EGAF00001792900 cram 719.9 MB
EGAF00001792901 cram 737.6 MB
EGAF00001792902 cram 753.2 MB
EGAF00001792903 cram 720.0 MB
EGAF00001792904 cram 872.1 MB
EGAF00001792905 cram 898.8 MB
EGAF00001792906 cram 872.7 MB
EGAF00001792907 cram 878.5 MB
EGAF00001792908 cram 855.3 MB
EGAF00001792909 cram 771.1 MB
EGAF00001792910 cram 759.7 MB
EGAF00001792911 cram 785.9 MB
EGAF00001792912 cram 818.0 MB
EGAF00001792913 cram 812.2 MB
EGAF00001792914 cram 758.9 MB
EGAF00001792915 cram 767.6 MB
EGAF00001792916 cram 717.9 MB
EGAF00001792917 cram 751.9 MB
EGAF00001792918 cram 700.1 MB
EGAF00001792919 cram 726.3 MB
EGAF00001792920 cram 904.2 MB
EGAF00001792921 cram 854.3 MB
EGAF00001792922 cram 765.5 MB
EGAF00001792923 cram 866.1 MB
EGAF00001792924 cram 882.3 MB
EGAF00001792925 cram 839.5 MB
EGAF00001792926 cram 779.3 MB
EGAF00001792927 cram 698.4 MB
EGAF00001792954 cram 722.8 MB
EGAF00001792955 cram 804.4 MB
EGAF00001792956 cram 829.9 MB
EGAF00001792957 cram 955.5 MB
EGAF00001792958 cram 829.5 MB
EGAF00001792959 cram 774.9 MB
EGAF00001792960 cram 748.9 MB
EGAF00001792961 cram 784.6 MB
EGAF00001792962 cram 693.1 MB
EGAF00001792963 cram 788.1 MB
EGAF00001792964 cram 746.9 MB
EGAF00001792965 cram 753.7 MB
EGAF00001792966 cram 780.6 MB
EGAF00001792967 cram 746.9 MB
EGAF00001792968 cram 813.4 MB
EGAF00001792969 cram 846.8 MB
EGAF00001792970 cram 739.7 MB
EGAF00001792971 cram 752.0 MB
EGAF00001792972 cram 799.4 MB
EGAF00001792973 cram 782.0 MB
EGAF00001792974 cram 834.6 MB
EGAF00001792975 cram 846.9 MB
EGAF00001792976 cram 686.4 MB
EGAF00001792977 cram 715.7 MB
EGAF00001792978 cram 684.5 MB
EGAF00001792979 cram 746.7 MB
EGAF00001792980 cram 735.0 MB
EGAF00001792981 cram 840.7 MB
EGAF00001792982 cram 818.4 MB
EGAF00001792983 cram 781.6 MB
EGAF00001792984 cram 690.5 MB
EGAF00001792985 cram 676.9 MB
EGAF00001792986 cram 659.0 MB
EGAF00001792987 cram 695.0 MB
EGAF00001792988 cram 711.1 MB
EGAF00001792989 cram 727.9 MB
EGAF00001792990 cram 787.8 MB
EGAF00001792991 cram 717.9 MB
EGAF00001792992 cram 682.4 MB
EGAF00001792993 cram 704.3 MB
EGAF00001792994 cram 717.0 MB
EGAF00001792995 cram 771.9 MB
EGAF00001792996 cram 823.9 MB
EGAF00001792997 cram 786.8 MB
EGAF00001792998 cram 761.0 MB
EGAF00001792999 cram 759.6 MB
EGAF00001793000 cram 683.0 MB
EGAF00001793001 cram 794.1 MB
EGAF00001793002 cram 776.3 MB
EGAF00001793003 cram 814.9 MB
EGAF00001793004 cram 860.8 MB
EGAF00001793005 cram 789.6 MB
EGAF00001793006 cram 757.6 MB
EGAF00001793007 cram 760.6 MB
EGAF00001793008 cram 697.8 MB
EGAF00001793009 cram 783.1 MB
EGAF00001793010 cram 685.9 MB
EGAF00001793011 cram 724.0 MB
EGAF00001793012 cram 684.4 MB
EGAF00001793013 cram 730.6 MB
EGAF00001793014 cram 731.1 MB
EGAF00001793015 cram 724.4 MB
EGAF00001793016 cram 687.5 MB
EGAF00001793017 cram 686.6 MB
EGAF00001793018 cram 649.2 MB
EGAF00001793019 cram 715.2 MB
EGAF00001793020 cram 738.6 MB
EGAF00001793021 cram 725.0 MB
EGAF00001793022 cram 654.9 MB
EGAF00001793023 cram 638.1 MB
EGAF00001793024 cram 786.5 MB
EGAF00001793025 cram 762.4 MB
EGAF00001793026 cram 649.2 MB
EGAF00001793027 cram 651.6 MB
EGAF00001793028 cram 757.1 MB
EGAF00001793029 cram 726.9 MB
EGAF00001793030 cram 659.8 MB
EGAF00001793031 cram 632.6 MB
EGAF00001793032 cram 713.1 MB
EGAF00001793033 cram 698.2 MB
EGAF00001793034 cram 636.6 MB
EGAF00001793035 cram 653.5 MB
EGAF00001793036 cram 742.5 MB
EGAF00001793037 cram 774.7 MB
EGAF00001793038 cram 624.9 MB
EGAF00001793039 cram 812.9 MB
EGAF00001793040 cram 731.2 MB
EGAF00001793041 cram 620.5 MB
EGAF00001793042 cram 721.6 MB
EGAF00001793043 cram 704.8 MB
EGAF00001793044 cram 746.7 MB
EGAF00001793045 cram 803.2 MB
EGAF00001793046 cram 781.6 MB
EGAF00001793047 cram 837.7 MB
EGAF00001793048 cram 778.0 MB
EGAF00001793049 cram 649.1 MB
EGAF00001793074 cram 643.1 MB
EGAF00001793075 cram 622.4 MB
EGAF00001793076 cram 725.4 MB
EGAF00001793077 cram 776.5 MB
EGAF00001793078 cram 775.0 MB
EGAF00001793079 cram 804.0 MB
EGAF00001793080 cram 702.9 MB
EGAF00001793081 cram 671.6 MB
EGAF00001793082 cram 359.1 MB
EGAF00001793083 cram 717.9 MB
EGAF00001793084 cram 705.4 MB
EGAF00001793085 cram 676.0 MB
EGAF00001793086 cram 673.5 MB
EGAF00001793087 cram 683.0 MB
EGAF00001793088 cram 665.5 MB
EGAF00001793089 cram 631.5 MB
EGAF00001793090 cram 648.8 MB
EGAF00001793091 cram 700.0 MB
EGAF00001793092 cram 745.1 MB
EGAF00001793093 cram 744.8 MB
EGAF00001793094 cram 709.1 MB
EGAF00001793095 cram 691.7 MB
EGAF00001793096 cram 682.5 MB
EGAF00001793097 cram 476.2 MB
EGAF00001793098 cram 734.5 MB
EGAF00001793099 cram 684.3 MB
EGAF00001793100 cram 747.1 MB
EGAF00001793101 cram 749.0 MB
EGAF00001793102 cram 734.7 MB
EGAF00001793103 cram 777.1 MB
EGAF00001793104 cram 686.4 MB
EGAF00001793105 cram 810.7 MB
EGAF00001793106 cram 769.5 MB
EGAF00001793107 cram 708.8 MB
EGAF00001793108 cram 761.0 MB
EGAF00001793109 cram 807.3 MB
EGAF00001793110 cram 816.4 MB
EGAF00001793111 cram 811.8 MB
EGAF00001793112 cram 755.7 MB
EGAF00001793113 cram 727.5 MB
EGAF00001793114 cram 752.1 MB
EGAF00001793115 cram 793.8 MB
EGAF00001793116 cram 793.0 MB
EGAF00001793117 cram 723.0 MB
EGAF00001793118 cram 756.5 MB
EGAF00001793119 cram 654.6 MB
EGAF00001793120 cram 744.2 MB
EGAF00001793121 cram 736.7 MB
EGAF00001793122 cram 762.4 MB
EGAF00001793123 cram 800.6 MB
EGAF00001793124 cram 862.7 MB
EGAF00001793125 cram 878.1 MB
EGAF00001793126 cram 936.4 MB
EGAF00001793127 cram 849.0 MB
EGAF00001793128 cram 667.8 MB
EGAF00001793129 cram 692.4 MB
EGAF00001793130 cram 640.6 MB
EGAF00001793131 cram 704.0 MB
EGAF00001793132 cram 928.4 MB
EGAF00001793133 cram 892.4 MB
EGAF00001793134 cram 945.5 MB
EGAF00001793135 cram 915.5 MB
EGAF00001793136 cram 763.5 MB
EGAF00001793137 cram 823.4 MB
EGAF00001793138 cram 914.8 MB
EGAF00001793139 cram 988.8 MB
EGAF00001793140 cram 985.2 MB
EGAF00001793141 cram 1.0 GB
EGAF00001793142 cram 1.0 GB
EGAF00001793143 cram 947.9 MB
EGAF00001793144 cram 733.1 MB
EGAF00001793145 cram 717.7 MB
EGAF00001793146 cram 784.6 MB
EGAF00001793147 cram 844.3 MB
EGAF00001793148 cram 842.7 MB
EGAF00001793149 cram 949.2 MB
EGAF00001793150 cram 876.3 MB
EGAF00001793151 cram 837.2 MB
EGAF00001793152 cram 691.5 MB
EGAF00001793153 cram 733.6 MB
EGAF00001793154 cram 804.1 MB
EGAF00001793155 cram 870.2 MB
EGAF00001793156 cram 820.2 MB
EGAF00001793157 cram 854.8 MB
EGAF00001793158 cram 820.0 MB
EGAF00001793159 cram 772.5 MB
EGAF00001793160 cram 741.4 MB
EGAF00001793161 cram 828.0 MB
EGAF00001793162 cram 735.9 MB
EGAF00001793163 cram 728.6 MB
EGAF00001793164 cram 834.6 MB
EGAF00001793165 cram 869.8 MB
EGAF00001793166 cram 879.3 MB
EGAF00001793167 cram 853.9 MB
EGAF00002024809 cram 579.3 MB
EGAF00002024810 cram 573.0 MB
EGAF00002024811 cram 556.7 MB
EGAF00002024812 cram 578.4 MB
EGAF00002024813 cram 621.0 MB
EGAF00002024814 cram 633.9 MB
EGAF00002024815 cram 541.7 MB
EGAF00002024816 cram 591.1 MB
EGAF00002024817 cram 584.8 MB
EGAF00002024818 cram 599.6 MB
EGAF00002024819 cram 595.9 MB
EGAF00002024820 cram 494.2 MB
EGAF00002024821 cram 769.8 MB
EGAF00002024822 cram 754.9 MB
EGAF00002024823 cram 690.3 MB
EGAF00002024824 cram 700.1 MB
EGAF00002024825 cram 759.0 MB
EGAF00002024826 cram 685.4 MB
EGAF00002024827 cram 662.3 MB
EGAF00002024828 cram 604.6 MB
EGAF00002024829 cram 926.5 MB
EGAF00002024830 cram 755.9 MB
EGAF00002024831 cram 661.0 MB
EGAF00002024832 cram 731.6 MB
EGAF00002024833 cram 734.5 MB
EGAF00002024834 cram 658.0 MB
EGAF00002024835 cram 641.7 MB
EGAF00002024836 cram 682.7 MB
EGAF00002024837 cram 641.3 MB
EGAF00002024838 cram 959.5 MB
EGAF00002024839 cram 984.9 MB
EGAF00002024840 cram 1.0 GB
EGAF00002024841 cram 782.6 MB
EGAF00002024842 cram 758.4 MB
EGAF00002024843 cram 810.5 MB
EGAF00002024844 cram 831.3 MB
EGAF00002024845 cram 807.6 MB
EGAF00002024846 cram 771.1 MB
EGAF00002024847 cram 777.0 MB
EGAF00002024848 cram 800.6 MB
EGAF00002024849 cram 786.6 MB
EGAF00002024850 cram 803.5 MB
EGAF00002024851 cram 851.8 MB
EGAF00002024852 cram 798.8 MB
EGAF00002024853 cram 810.7 MB
EGAF00002024854 cram 820.8 MB
EGAF00002024855 cram 824.9 MB
EGAF00002024856 cram 751.2 MB
EGAF00002024857 cram 745.4 MB
EGAF00002024858 cram 768.6 MB
EGAF00002024859 cram 785.7 MB
EGAF00002024860 cram 726.1 MB
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EGAF00002024862 cram 756.0 MB
EGAF00002024863 cram 770.7 MB
EGAF00002024864 cram 725.0 MB
EGAF00002024865 cram 754.4 MB
EGAF00002024866 cram 766.1 MB
EGAF00002024867 cram 649.8 MB
EGAF00002024868 cram 563.7 MB
EGAF00002024869 cram 574.6 MB
EGAF00002024870 cram 546.0 MB
EGAF00002024871 cram 579.1 MB
EGAF00002024872 cram 514.1 MB
EGAF00002024873 cram 478.7 MB
EGAF00002024874 cram 609.1 MB
EGAF00002024875 cram 583.2 MB
EGAF00002024876 cram 603.6 MB
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EGAF00002024878 cram 651.4 MB
EGAF00002024879 cram 576.8 MB
EGAF00002024880 cram 567.1 MB
EGAF00002024881 cram 487.7 MB
EGAF00002024882 cram 690.1 MB
EGAF00002024883 cram 755.1 MB
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EGAF00002024885 cram 759.4 MB
EGAF00002024886 cram 900.6 MB
EGAF00002024887 cram 843.1 MB
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EGAF00002024889 cram 837.7 MB
EGAF00002024890 cram 692.9 MB
EGAF00002024891 cram 680.1 MB
EGAF00002024892 cram 669.2 MB
EGAF00002024893 cram 700.2 MB
EGAF00002024894 cram 708.8 MB
EGAF00002024895 cram 722.8 MB
EGAF00002024896 cram 753.9 MB
EGAF00002024897 cram 790.5 MB
EGAF00002024898 cram 826.0 MB
EGAF00002024899 cram 784.9 MB
EGAF00002024900 cram 610.9 MB
EGAF00002024901 cram 627.1 MB
EGAF00002024902 cram 570.0 MB
EGAF00002024903 cram 620.2 MB
EGAF00002024904 cram 705.9 MB
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EGAF00002024906 cram 677.9 MB
EGAF00002024907 cram 697.3 MB
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EGAF00002024911 cram 650.6 MB
EGAF00002024912 cram 685.7 MB
EGAF00002024913 cram 679.4 MB
EGAF00002024914 cram 678.4 MB
EGAF00002024915 cram 676.9 MB
EGAF00002024916 cram 660.5 MB
EGAF00002024917 cram 729.4 MB
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EGAF00002024919 cram 720.6 MB
EGAF00002024920 cram 756.3 MB
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EGAF00002024922 cram 730.5 MB
EGAF00002024923 cram 724.1 MB
EGAF00002024924 cram 671.5 MB
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EGAF00002024926 cram 831.5 MB
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EGAF00002024931 cram 772.9 MB
EGAF00002024932 cram 830.3 MB
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EGAF00002024935 cram 720.3 MB
EGAF00002024936 cram 654.6 MB
EGAF00002024937 cram 709.5 MB
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EGAF00002024944 cram 747.6 MB
EGAF00002024945 cram 732.9 MB
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EGAF00002024962 cram 1.0 GB
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EGAF00002024967 cram 1.1 GB
EGAF00002024968 cram 1.1 GB
EGAF00002024969 cram 942.8 MB
EGAF00002024970 cram 936.0 MB
EGAF00002024971 cram 735.7 MB
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EGAF00002024977 cram 744.2 MB
EGAF00002024978 cram 710.2 MB
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EGAF00002024983 cram 745.0 MB
EGAF00002024984 cram 956.3 MB
EGAF00002024985 cram 824.6 MB
EGAF00002024986 cram 722.1 MB
EGAF00002024987 cram 709.0 MB
EGAF00002024988 cram 768.8 MB
EGAF00002024989 cram 720.6 MB
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EGAF00002024996 cram 684.6 MB
EGAF00002024997 cram 669.8 MB
EGAF00002024998 cram 624.3 MB
EGAF00002024999 cram 608.9 MB
EGAF00002025000 cram 795.4 MB
EGAF00002025001 cram 813.5 MB
EGAF00002025002 cram 727.1 MB
EGAF00002025003 cram 820.2 MB
EGAF00002025004 cram 703.0 MB
EGAF00002025005 cram 663.8 MB
EGAF00002025006 cram 598.5 MB
EGAF00002025007 cram 657.7 MB
EGAF00002025008 cram 766.7 MB
EGAF00002025009 cram 845.5 MB
EGAF00002025010 cram 725.5 MB
EGAF00002025011 cram 834.1 MB
EGAF00002025012 cram 812.0 MB
EGAF00002025013 cram 751.0 MB
EGAF00002025014 cram 761.6 MB
EGAF00002025015 cram 766.3 MB
EGAF00002025016 cram 683.5 MB
EGAF00002025017 cram 736.6 MB
EGAF00002025018 cram 692.1 MB
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866 Files (640.8 GB)