Supporting Information S1 - Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Table 1: List of rare CNVs in 340 TOF and/or pulmonary atresia cases of European ancestry. Table 2: List of rare CNVs in 416 OPGP control individuals. Table 3: Summary of Affymetrix 6.0 microarray CNV data TOF sample (N = 340). Table 4: Rare large CNVs (>500 kb) in 43 of 433 unrelated adults with tetralogy of Fallot. Table 5: Very rare CNVs overlapping 26 candidate genes for tetralogy of Fallot. Table 6: PLXNA2 sequence variants detected in 192 unrelated TOF cases of European ancestry. Table 7: Gene-set association results for all gene-sets tested, rare CNVs restricted to exonic losses. Table 8: Additional gene-set information for the 19 gene-sets selected for final results. Table 9: Known TOF disease genes used for the disease gene neighborhood analysis. Table 10: Test results on disease gene neighborhoods for all disease genes, using the STRING network. Table 11: Neighbor gene details for the three top disease genes. Figure 1: Overview of study design and CNV analysis workflow. Figure 2: Rare CNVs at chromosome region 1q21.1 in TOF cases. Figure 3: Rare CNVs at chromosome region 18q22.3-q23 in TOF cases. Figure 4: Integrated TOF pathway and candidate gene connectivity. Supplementary References.
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