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Chunk #4 — The ExAC Data set

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Analysis of protein-coding genetic variation in 60,706 humans.
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We identified 10,195,872 candidate sequence variants in ExAC. We further applied stringent depth and site/genotype quality filters to define a subset of 7,404,909 high quality (HQ) variants, including 317,381 indels (Supplementary Information Table 7), corresponding to one variant for every 8 bp within the exome intervals. The majority of these are very low-frequency variants absent from previous smaller call sets (Figure 1c): of the HQ variants, 99% have a frequency of <1%, 54% are singletons (variants seen only once in the data set), and 72% are absent from both 1000G and ESP.