Colon Cancer: Gene >> DTNA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34818217:34818217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.763C>T
AA Mutation	p.Arg255Cys(p.R255C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34858388:34858388(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371363393
CDS Mutation	c.1555C>T
AA Mutation	p.Arg519Trp(p.R519W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34875392:34875392(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1816G>A
AA Mutation	p.Ala606Thr(p.A606T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34858313:34858313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764410940
CDS Mutation	c.1480C>T
AA Mutation	p.Arg494Trp(p.R494W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34815960:34815960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.655C>A
AA Mutation	p.Pro219Thr(p.P219T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399113
Start	34851875:34851875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145061501
CDS Mutation	c.1398C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399113
Start	34794151:34794151(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.268delT
AA Mutation	p.Tyr90ThrfsTer47(p.Y90Tfs*47)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399113
Start	34875244:34875244(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1672delG
AA Mutation	p.Ala558GlnfsTer40(p.A558Qfs*40)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000399113
Start	34815908:34815909(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.609dupA
AA Mutation	p.Val204SerfsTer39(p.V204Sfs*39)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000399113
Start	34818331:34818331(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.876+1G>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> DTNA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34858313:34858313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764410940
CDS Mutation	c.1480C>T
AA Mutation	p.Arg494Trp(p.R494W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34875302:34875302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1726C>T
AA Mutation	p.Pro576Ser(p.P576S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34851880:34851880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760288717
CDS Mutation	c.1403C>T
AA Mutation	p.Ala468Val(p.A468V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34879608:34879608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1970A>C
AA Mutation	p.Glu657Ala(p.E657A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000399113
Start	34838774:34838774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1202G>T
AA Mutation	p.Arg401Met(p.R401M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000399113
Start	34812057:34812057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.547G>T
AA Mutation	p.Glu183Ter(p.E183*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000399113
Start	34827592:34827592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1011-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript