Colon Cancer: Gene >> GMDS

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380815
Start	2117513:2117513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759353627
CDS Mutation	c.191G>A
AA Mutation	p.Arg64Gln(p.R64Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380815
Start	2117538:2117538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771650335
CDS Mutation	c.166C>T
AA Mutation	p.Arg56Trp(p.R56W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380815
Start	1624205:1624205(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1083C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380815
Start	1960915:1960915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368834744
CDS Mutation	c.397C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000380815
Start	1960910:1960911(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.380_401dupTTGACGGAGTTGGCACTCTACG
AA Mutation	p.Leu135Ter(p.L135*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000380815
Start	1930213:1930213(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.661C>T
AA Mutation	p.Arg221Ter(p.R221*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000380815
Start	2115769:2115769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.345+2T>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> GMDS

Mutation ID	1
Mutation Consequence	stop_gained
Transcription ID	ENST00000380815
Start	1960867:1960867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.445A>T
AA Mutation	p.Lys149Ter(p.K149*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript