Colon Cancer: Gene >> GCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395514
Start	54865376:54865376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.404T>C
AA Mutation	p.Ile135Thr(p.I135T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000395514
Start	54844094:54844094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.676G>A
AA Mutation	p.Val226Met(p.V226M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000395514
Start	54902457:54902457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.207T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000395514
Start	54847097:54847097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.541+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000395514
Start	54843999:54843999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536461052
CDS Mutation	c.*16+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> GCH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000395514
Start	54865425:54865425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.355G>A
AA Mutation	p.Asp119Asn(p.D119N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript