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. Author manuscript; available in PMC: 2015 Oct 16.
Published in final edited form as: Nature. 2015 Apr 1;520(7547):353–357. doi: 10.1038/nature14347

Extended Data Table 1. Validation of mutation calling.

To determine validation rate for mutation calling, a custom capture SureSelect design was used to sequence selected coding/non-coding loci to an average depth of 360-2000X. For loci with sufficient depth (>=20X), the validation rate (the proportion of somatic variants) was calculated as described in Extended Data Table 2 and Supplementary Information, section 3c. On average 95% and 86% of the substitutions and indels, respectively, were somatic. Validation for rearrangement calls was performed by PCR-gel electrophoresis, as described in Supplementary Information, section 3d. PCR-gel experiments yielded a high validation rate for three of the four patients included in the validation. For A22, there was a high rate of PCR failure. For this sample, we therefore assessed the veracity of the breakpoints by visual inspection of the associated copy number segments and confirmed that 82% were high-confidence events resulting in visible copy number changes.

Patient # coding subs # subs from mutation clusters # total unique subs # subs with coverage* % somatic

substitutions A10 109 163 270 269 90.70%
A22 97 265 356 356 98.60%
A29 76 70 144 143 93.00%
A31 43 109 150 150 89.30%
A32 74 388 450 450 97.80%
A12 54 144 192 191 88.50%
A24 50 147 196 196 97.00%
A34 258 554 800 795 99.20%
A21 72 203 275 273 96.30%
A17 155 377 523 522 100%
AVERAGE 95.04%

Patient # coding indels # indels from mutation clusters # total unique indels # indels with coverage* % somatic

indels A10 11 145 156 155 80.70%
A22 9 74 80 79 78.50%
A29 6 44 49 49 87.80%
A31 5 48 52 51 82.40%
A32 11 93 101 100 86%
A12 14 76 84 83 86.80%
A24 9 66 73 72 83.30%
A34 43 258 284 282 96.10%
A21 9 85 89 88 81.80%
A17 15 123 123 122 99.20%
AVERAGE 86.26%

Patient # rearrs validated PCR failed % somatic

Rearrangements A22 49 21 57% (82% with rearrs confirmed by the visual inspection of copy number changes)
A31 21 1 95%
A32 32 1 96%
A24 27 3 89%
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