Oncomine™ Lung cfDNA Assay

Variant type	Oncomine™ Gene class	Oncomine™ Variant class	Annotation criteria
Missense hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Functional impact is missense Transcript and coding syntax 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
Splice site hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript, location, and exon occur in predefined splice site hotspot list
Intronic hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Transcript, location, and coding syntax occur in predefined intronic hotspot list
Synonymous hotspot mutation	Gain-of-Function Loss-of-Function	Hotspot	Positive mutation call Functional impact is synonymous Transcript and coding syntax occur in predefined synonymous hotspot list
EGFR exon 19 deletion^[1]	Gain-of-Function	EGFRExon19Deletion	Positive Hotspot mutation call Functional impact is nonframeshift deletion, nonframeshift block substitution Deletion impacts codons 744–761 of EGFR
EGFR exon 20 insertion ¹	Gain-of-Function	EGFRExon20Insertion	Positive Hotspot mutation call Functional impact is nonframeshift insertion, nonframeshift block substitution Insertion impacts codons 762–775 of EGFR or variant is in EGFR exon 20 insertion confirmed list
ERBB2 exon 20 insertion ¹	Gain-of-Function	ERBB2Exon20Insertion	Positive Hotspot mutation call Functional impact is nonframeshift insertion, nonframeshift block substitution Insertion impacts codons 770–783 of ERBB2
MET exon 14 skipping ¹	Gain-of-Function	METExon14Skipping	Positive Hotspot mutation call Location is splice site in MET exon 14, is intronic >= 4bp deletion in 30 nucleotides preceding MET exon 14, or variant is in MET Exon 14 Skipping confirmed list

¹ For more information, see Ion Torrent Class-Based Variants.