Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EXOSC8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389704
Start	37007057:37007057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.473C>T
AA Mutation	p.Ala158Val(p.A158V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389704
Start	37008147:37008147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.578C>T
AA Mutation	p.Pro193Leu(p.P193L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389704
Start	37008818:37008818(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.698G>A
AA Mutation	p.Cys233Tyr(p.C233Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389704
Start	37002276:37002276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs566342827
CDS Mutation	c.21C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389704
Start	37002983:37002983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.168T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389704
Start	37007064:37007064(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.485delA
AA Mutation	p.Asn162MetfsTer9(p.N162Mfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000389704
Start	37009228:37009228(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778044271
CDS Mutation	c.760C>T
AA Mutation	p.Arg254Ter(p.R254*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> EXOSC8

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389704
Start	37002493:37002493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.60G>T
AA Mutation	p.Glu20Asp(p.E20D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389704
Start	37004557:37004557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747216574
CDS Mutation	c.234C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389704
Start	37004554:37004555(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.234_238+50dupCGTTGGTAAGTTAAATGGTTTTGTAATTTTAATACAAATACTTTTAACACATTTA
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript