Colon Cancer: Gene >> ELP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000354429
Start	7257025:7257025(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.626G>A
AA Mutation	p.Arg209His(p.R209H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000354429
Start	7254705:7254705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.359C>T
AA Mutation	p.Thr120Ile(p.T120I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000354429
Start	7254754:7254755(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.411_412delAC
AA Mutation	p.Cys139ProfsTer15(p.C139Pfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ELP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000354429
Start	7254617:7254617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.271A>G
AA Mutation	p.Asn91Asp(p.N91D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	splice_donor_variant;coding_sequence_variant
Transcription ID	ENST00000354429
Start	7258925:7258928(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.836+2_836+5delTAAG
Mutation Classification	Splice_Site
Feature Type	Transcript