Colon Cancer: Gene >> EPSTI1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42900333:42900333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.825A>C
AA Mutation	p.Lys275Asn(p.K275N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42970629:42970629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.230G>T
AA Mutation	p.Arg77Ile(p.R77I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42919317:42919317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.673C>T
AA Mutation	p.Pro225Ser(p.P225S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42969111:42969111(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.314T>C
AA Mutation	p.Leu105Pro(p.L105P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000398762
Start	42895107:42895107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202033075
CDS Mutation	c.850G>A
AA Mutation	p.Val284Ile(p.V284I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42992146:42992146(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.20T>C
AA Mutation	p.Val7Ala(p.V7A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42963319:42963319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.425T>C
AA Mutation	p.Val142Ala(p.V142A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000398762
Start	42963332:42963332(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.412delA
AA Mutation	p.Arg138GlufsTer5(p.R138Efs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained;inframe_insertion
Transcription ID	ENST00000398762
Start	42970657:42970658(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.201_202insTAAAAAAAACAAAAA
AA Mutation	p.Tyr67_Thr68insTer(p.Y67_T68ins*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000398762
Start	42895092:42895093(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.864dupT
AA Mutation	p.Leu289SerfsTer24(p.L289Sfs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> EPSTI1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000398762
Start	42953994:42953994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.517C>A
AA Mutation	p.Leu173Ile(p.L173I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000398762
Start	42992058:42992058(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.108delC
AA Mutation	p.Val37TrpfsTer33(p.V37Wfs*33)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000398762
Start	42919333:42919333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.658-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript