Extended Data Figure 7: Identity-by-descent (IBD) graph at ATM among individuals with likely 11q CN-LOH events spanning ATM.

We called IBD tracts using GERMLINE with haplotype extension⁵⁴. Colored nodes indicate carriers of the eight rare coding or splice variants we observed to be independently (and probably causally) associated with 11q CN-LOH mutations (always making the rare allele homozygous; Extended Data Table 1 and Supplementary Table 7). The presence of additional IBD clusters not carrying any of the highlighted variants suggests that even more causal variants in ATM remain to be discovered. The two carriers of rs786204751 are also carriers of rs587779872, as discussed in Methods.