Example. Tumor Mutation Burden

Content

This example shows findings from an assessment of the number of mutations within a tumor genome with the purpose of determining likely response to a therapeutic agent and/or disease burden. In this example, findings are generated by two vendors using different methodologies and specimen types.

gf.xpt

Row 1:	Shows the number of sequence variants within the region of interest. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC.
Row 2:	Shows the normalized number of sequence variants within the region of interest. The panel of genes used in next generation targeted sequencing is shown in SPDVID. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC.
Row 3:	Shows the a summary of the magnitude of the variant burden within the tumor. The panel of genes used in next generation targeted sequencing is shown in SPDVID. The vendor, methodology, and specimen type are shown in GFNAM, GFMETHOD, and GFSPEC.

gf.xpt

Row	STUDYID	DOMAIN	USUBJID	SPDEVID	GFSEQ	GFREFID	GFTESTCD	GFTEST	GFTSTDTL	GFORRES	GFORRESU	GFSTRESC	GFSTRESN	GFSTRESU	GFGENREF	GFNAM	GFSPEC	GFMETHOD	VISITNUM	VISIT	VISITDY	GFDTC	GFDY
1	ABC-123	GF	ABC123-45-001		1	78975864	TMB	Tumor Mutation Burden	NUMBER OF SEQUENCE VARIANTS	497		497	497		GRCh37.75	Genetics Lab Plus	DNA	WHOLE EXOME SEQUENCING	1	SCREENING	-1	2022-01-19	-1
2	ABC-123	GF	ABC123-45-001	ACME 500 GENE PANEL	2	96757855	TMB	Tumor Mutation Burden	NORMALIZED NUMBER OF SEQUENCE VARIANTS	8.83	/MBP	8.83	8.83	/MBP	GRCh37.75	ACME Genetics Inc.	ctDNA	NEXT GENERATION TARGETED SEQUENCING	1	SCREENING	-1	2022-01-19	-1
3	ABC-123	GF	ABC123-45-001	ACME 500 GENE PANEL	3	96757855	TMB	Tumor Mutation Burden	VARIANT SEQUENCE BURDEN INTERPRETATION	INTERMEDIATE		INTERMEDIATE			GRCh37.75	ACME Genetics Inc.	ctDNA	NEXT GENERATION TARGETED SEQUENCING	1	SCREENING	-1	2022-01-19	-1