konradjk / exac_browser

Browser for ExAC consortium data
http://exac.broadinstitute.org
MIT License
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Missing mutation #261

Closed EGillis42 closed 8 years ago

EGillis42 commented 8 years ago

Hello,

The mutation chr15:66995669 GGCGGCA>G is not present on the Exac webpage of SMAD6. Although the mutation page exists: http://exac.broadinstitute.org/variant/15-66995669-GGCGGCA-G

Thanks!

pontikos commented 8 years ago

Have you checked the filtered variants? Variants which don't have a PASS in the filter field are not displayed by default.

On 7 June 2016 at 14:29, EGillis42 notifications@github.com wrote:

Hello,

The mutation chr15:66995669 GGCGGCA>G is not present on the Exac webpage of SMAD6. Although the mutation page exists: http://exac.broadinstitute.org/variant/15-66995669-GGCGGCA-G

Thanks!

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dgmacarthur commented 8 years ago

Yes, Nikolas is correct - the variant is present on the gene page, but filtered. You can see filtered variants by ticking the "Include filtered (non-PASS) variants" box above the variant table.

EGillis42 commented 8 years ago

Thank you!