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Note: You're navigating the results of models obtained with the previous release of IntOGen (2020). A new boostDM version corresponding to the current IntOGen release will be available soon.
ESR1 BRCA ×
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Mutation AA change Consequence type BoostDM score IntOGen frequency
6:152098791:G D538G missense_variant 1.00 48
6:152098788:C Y537S missense_variant 1.00 31
6:152011697:C E380Q missense_variant 0.99 7
6:152098787:A Y537N missense_variant 1.00 6
6:152098785:A L536H missense_variant 1.00 6
6:152098785:C L536P missense_variant 1.00 4
6:152098788:G Y537C missense_variant 1.00 3
6:152098785:G L536R missense_variant 1.00 2
6:152098790:A D538N missense_variant 1.00 1
6:152098778:T V534L missense_variant 1.00 1
6:152098788:T Y537F missense_variant 1.00 0
6:152098791:T D538V missense_variant 1.00 0
6:152098791:C D538A missense_variant 1.00 0
6:152098790:C D538H missense_variant 1.00 0
6:152098790:T D538Y missense_variant 1.00 0
6:152098787:G Y537D missense_variant 1.00 0
6:152098787:C Y537H missense_variant 1.00 0
6:152098779:G V534G missense_variant 1.00 0
6:152098779:C V534A missense_variant 1.00 0
6:152098779:A V534E missense_variant 1.00 0
6:152098778:A V534M missense_variant 1.00 0
6:152098778:C V534L missense_variant 1.00 0
6:152098784:G L536V missense_variant 1.00 0
6:152098784:A L536I missense_variant 1.00 0
6:152098784:T L536F missense_variant 1.00 0
6:152098789:A Y537* stop_gained 0.99 0
6:152098789:G Y537* stop_gained 0.99 0
6:152011697:A E380K missense_variant 0.99 0
6:152098781:T P535S missense_variant 0.97 0
6:152098782:A P535H missense_variant 0.97 0
6:152098781:G P535A missense_variant 0.97 0
6:152098781:A P535T missense_variant 0.97 0
6:152098782:G P535R missense_variant 0.97 0
6:152098782:T P535L missense_variant 0.97 0
6:152011699:C E380D missense_variant 0.93 0
6:152011699:T E380D missense_variant 0.93 0
6:152011697:T E380* stop_gained 0.90 0
6:152011698:T E380V missense_variant 0.87 0
6:152011698:G E380G missense_variant 0.87 0
6:152011698:C E380A missense_variant 0.87 0
6:152098792:A D538E missense_variant 0.51 0
6:152098792:G D538E missense_variant 0.51 0
In silico saturation mutagenesis
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Cancer type Selected cancer type Mutational discovery Index Feature Complexity
(BRCA) Breast adenocarcinoma BRCA 0.75 0.14