Colon Cancer: Gene >> OPTN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13125530:13125530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1111G>A
AA Mutation	p.Glu371Lys(p.E371K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13110393:13110393(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs181141625
CDS Mutation	c.286C>T
AA Mutation	p.Arg96Cys(p.R96C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000263036
Start	13112633:13112633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.550G>T
AA Mutation	p.Ala184Ser(p.A184S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13112538:13112538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.455C>T
AA Mutation	p.Ala152Val(p.A152V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13110471:13110471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.364T>C
AA Mutation	p.Ser122Pro(p.S122P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13118930:13118930(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778107336
CDS Mutation	c.669G>T
AA Mutation	p.Lys223Asn(p.K223N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13110355:13110355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.248G>A
AA Mutation	p.Arg83His(p.R83H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263036
Start	13132183:13132183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776931295
CDS Mutation	c.1518C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263036
Start	13118939:13118939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560438634
CDS Mutation	c.678C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263036
Start	13109192:13109192(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs766608795
CDS Mutation	c.76delC
AA Mutation	p.His26ThrfsTer19(p.H26Tfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000263036
Start	13125509:13125509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1090C>T
AA Mutation	p.Gln364Ter(p.Q364*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000263036
Start	13125515:13125515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1096G>T
AA Mutation	p.Glu366Ter(p.E366*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> OPTN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13118940:13118940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368244180
CDS Mutation	c.679G>A
AA Mutation	p.Glu227Lys(p.E227K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13109179:13109179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.57C>A
AA Mutation	p.Ser19Arg(p.S19R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13110422:13110422(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.315G>T
AA Mutation	p.Glu105Asp(p.E105D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263036
Start	13118930:13118930(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778107336
CDS Mutation	c.669G>T
AA Mutation	p.Lys223Asn(p.K223N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript