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. 2022 Oct 5;611(7934):105–114. doi: 10.1038/s41586-022-05288-7

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Extended Data Fig. 5 — a. Normalized frequency of NUMT breakpoints in each mtDNA region. Black lines are expected frequency. Top blue area plot shows the frequency of breakpoints from germline NUMTs. Bottom red area plot shows the frequency of breakpoints from tumour-specific NUMTs. Mitochondrial regions are shown in the different colours at the bottom of each plot. Red boxes highlight the regions where the frequencies were significantly greater than the expected by chance. Blue boxes highlighted the regions where the frequencies significantly less than the expected by chance. b. Normalized number of NUMTs within each Dloop region. Stars represent the NUMTs were significantly enriched in each region (permutation test). Circles labelled P values were from the comparison of germline and tumour-specific NUMTs (two-sided Fisher’s exact test). c. Correlation of frequencies of deletion breakpoints and NUMT breakpoints in each mtDNA region from germline and tumour-specific NUMTs. d. Histogram of distance of NUMTs location to transcription start sites (TSS). Germline, germline common & rare, ultra-rare and tumour-specific NUMTs are shown, separately.