Oncomine™ tumor specific panels
Variant type |
Annotation criteria |
||
---|---|---|---|
Copy number amplification |
Gain-of-Function |
Amplification |
|
Copy number deletion |
Loss-of-Function |
Deletion |
|
Copy number exon deletion |
Loss-of-Function |
ExonDeletion |
|
Copy number exon duplication |
Loss-of-Function |
ExonDuplication |
|
Loss of Heterozygosity |
Loss-of-Function |
LOH |
|
Gene fusion |
Gain-of-Function |
Fusion |
|
Non-targeted fusion |
Gain-of-Function |
NonTargetedFusion |
|
RNA exon variant |
Gain-of-Function |
RNAExonVariant |
|
Expression imbalance |
Gain-of-Function |
ExpressionImbalance |
|
Long deletion |
Loss-of-Function |
LongDel |
|
Loss-of-function truncating de novo mutation |
Loss-of-Function Unclassified |
Truncating |
|
Missense hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
In-frame hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
Splice site hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
Intronic hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
Promoter hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
Synonymous hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
Gain-of-function truncating hotspot mutation |
Gain-of-Function |
Hotspot |
|
Loss-of-function truncating hotspot mutation |
Loss-of-Function |
Truncating |
|
MNV hotspot mutation |
Gain-of-Function Loss-of-Function Unclassified |
Hotspot |
|
EGFR exon 19 deletion[1] |
Gain-of-Function |
EGFRExon19Deletion |
|
EGFR exon 20 insertion1 |
Gain-of-Function |
EGFRExon20Insertion |
|
ERBB2 exon 20 insertion1 |
Gain-of-Function |
ERBB2Exon20Insertion |
|
JAK2 exon 12 indel1 |
Loss-of-Function |
JAK2Exon12Indel |
|
KIT exon 11 deletion1 |
Gain-of-Function |
KITExon11Deletion |
|
KIT exon 11 insertion1 |
Gain-of-Function |
KITExon11Insertion |
|
MET exon 14 skipping1 |
Gain-of-Function |
METExon14Skipping |
|
PDGFRA exon 18 deletion1 |
Gain-of-Function |
PDGFRAExon18Deletion |
|
FLT3 internal tandem duplication |
Gain-of-Function |
FLT3ITD |