Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BPTF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67911363:67911363(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3857T>G
AA Mutation	p.Leu1286Arg(p.L1286R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67911458:67911458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3952A>C
AA Mutation	p.Lys1318Gln(p.K1318Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67948163:67948163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8161C>T
AA Mutation	p.Arg2721Cys(p.R2721C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67911043:67911043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3537G>T
AA Mutation	p.Lys1179Asn(p.K1179N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67904772:67904772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3122A>T
AA Mutation	p.His1041Leu(p.H1041L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67959754:67959754(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8518G>A
AA Mutation	p.Glu2840Lys(p.E2840K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67945996:67945996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7666C>T
AA Mutation	p.Pro2556Ser(p.P2556S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67945622:67945622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7292T>C
AA Mutation	p.Val2431Ala(p.V2431A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67826310:67826310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.586A>G
AA Mutation	p.Ser196Gly(p.S196G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67909738:67909738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3347A>C
AA Mutation	p.Lys1116Thr(p.K1116T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67947775:67947775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8045G>A
AA Mutation	p.Ser2682Asn(p.S2682N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67912072:67912072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4566A>T
AA Mutation	p.Glu1522Asp(p.E1522D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67892012:67892012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2411A>C
AA Mutation	p.Lys804Thr(p.K804T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67904724:67904724(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3074A>C
AA Mutation	p.Glu1025Ala(p.E1025A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67853997:67853997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.671T>A
AA Mutation	p.Ile224Asn(p.I224N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67909636:67909636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764527892
CDS Mutation	c.3245G>A
AA Mutation	p.Arg1082Gln(p.R1082Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67920084:67920084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs556375365
CDS Mutation	c.5876G>A
AA Mutation	p.Arg1959Gln(p.R1959Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67946322:67946322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7992A>T
AA Mutation	p.Lys2664Asn(p.K2664N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000321892
Start	67946324:67946324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7994A>T
AA Mutation	p.Gln2665Leu(p.Q2665L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67946276:67946276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782594079
CDS Mutation	c.7946G>A
AA Mutation	p.Arg2649His(p.R2649H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67854702:67854702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1376A>G
AA Mutation	p.Glu459Gly(p.E459G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67886304:67886304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2230C>G
AA Mutation	p.Gln744Glu(p.Q744E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67931916:67931916(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773414397
CDS Mutation	c.6534C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67946199:67946199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7869G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67912381:67912381(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4875T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67975815:67975815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8961A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67911613:67911613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4107C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321892
Start	67948150:67948150(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.8154delA
AA Mutation	p.Lys2718AsnfsTer36(p.K2718Nfs*36)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	stop_gained
Transcription ID	ENST00000321892
Start	67894077:67894077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2833G>T
AA Mutation	p.Glu945Ter(p.E945*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321892
Start	67959766:67959767(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.8530_8531insC
AA Mutation	p.Asp2844AlafsTer20(p.D2844Afs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000321892
Start	67894167:67894167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2921+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> BPTF

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67875670:67875670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1979G>A
AA Mutation	p.Cys660Tyr(p.C660Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67875658:67875658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1967G>A
AA Mutation	p.Ser656Asn(p.S656N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67946114:67946114(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7784T>G
AA Mutation	p.Leu2595Arg(p.L2595R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67912216:67912216(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4710T>A
AA Mutation	p.Asn1570Lys(p.N1570K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67866553:67866553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1526A>C
AA Mutation	p.Lys509Thr(p.K509T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67893482:67893482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2546G>A
AA Mutation	p.Arg849His(p.R849H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000321892
Start	67911530:67911530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4024G>A
AA Mutation	p.Asp1342Asn(p.D1342N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67912372:67912372(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148696633
CDS Mutation	c.4866C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000321892
Start	67922883:67922883(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5979G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000321892
Start	67894077:67894077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2833G>T
AA Mutation	p.Glu945Ter(p.E945*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000321892
Start	67910961:67910961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3455C>A
AA Mutation	p.Ser1152Ter(p.S1152*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000321892
Start	67909642:67909643(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.3259dupA
AA Mutation	p.Ile1087AsnfsTer6(p.I1087Nfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript