Oncomine™ Myeloid Research Assays


Variant type	Oncomine™ Gene class	Oncomine™ Variant class	Annotation criteria
Gene fusion	Gain-of-Function	Fusion	SVTYPE = "Fusion" FILTER = "PASS" Is a targeted fusion isoform
Non-targeted fusion	Gain-of-Function	NonTargetedFusion	SVTYPE = "Fusion" FILTER = "PASS" Non-targeted field is present NT_FUSION_IN_FRAME is not FALSE NT_FUSION_DRIVER_INVOLVED is not FALSE NT_FUSION_SECONDARY is not TRUE
RNA exon variant	Gain-of-Function	RNAExonVariant	SVTYPE = "RNAExonVariant" or "Fusion" FILTER = "PASS" Is a targeted RNA exon variant
Loss-of-function truncating de novo mutation	Loss-of-Function	Truncating	Positive mutation call Functional impact is frameshift block substitution, frameshift deletion, frameshift insertion, or nonsense Occurs in a loss-of-function gene
Missense hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Functional impact is missense Transcript and codon position occur in predefined missense hotspot list
In-frame hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Function, transcript, and coding syntax occur in predefined in-frame hotspot list
Intronic hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript and ID occur in predefined intronic hotspot list
Gain-of-function truncating hotspot mutation	Gain-of-Function	Hotspot	Positive mutation call Function, transcript, and coding syntax occur in predefined truncating hotspot list Occurs in a gain-of-function gene
Loss-of-function truncating hotspot mutation	Loss-of-Function	Truncating	Positive mutation call Function, transcript, and coding syntax occur in predefined truncating hotspot list Occurs in a loss-of-function gene
MNV hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript and coding syntax occur in MNV hotspot list
CEBPA‑⁠bZIP^[1]	Loss-of-Function	CEBPA‑⁠bZIP	Positive mutation call Functional impact is nonframeshift deletion, nonframeshift insertion, or nonframeshift block substitution INDEL impacts codons 282–345 of CEBPA^[2]
CEBPA‑⁠N‑⁠terminal^[1]	Loss-of-Function	CEBPA‑⁠N‑⁠terminal	Positive mutation call Functional impact is nonframeshift deletion, nonframeshift insertion, nonframeshift block substitution, frameshift deletion, frameshift insertion, or frameshift block substitution INDEL impacts codons 1–120 of CEBPA^[2]
JAK2 exon 12 indel^[1]	Gain-of-Function	JAK2Exon12Indel	Positive mutation call Functional impact is nonframeshift deletion, nonframeshift insertion, nonframeshift block substitution INDEL impacts codons 536–547 of JAK2^[2]
KIT exon 11 deletion^[1]	Gain-of-Function	KITExon11Deletion	Positive mutation call Functional impact is nonframeshift deletion, nonframeshift block substitution Deletion impacts codons 550–580 of KIT^[2] Alternatively, mutation occurs in splice site flanking the 5' end of exon 11
KIT exon 11 insertion^[1]	Gain-of-Function	KITExon11Insertion	Positive mutation call Functional impact is nonframeshift insertion, nonframeshift block substitution Insertion impacts codons 550–580 of KIT^[2]
FLT3 internal tandem duplication	Gain-of-Function	FLT3ITD	Positive mutation call Functional impact is a non-frameshift insertion in exon 14/15 of FLT3 or SVTYPE = "FLT3ITD"

¹ For more information, see Ion Torrent class-based variants.

² In some cases the assay design may not cover the entire codon range.