Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TPTE

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10577503:10577503(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532485045
CDS Mutation	c.839G>A
AA Mutation	p.Arg280Gln(p.R280Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10603565:10603565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1453C>A
AA Mutation	p.Leu485Ile(p.L485I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561088:10561088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.343T>C
AA Mutation	p.Phe115Leu(p.F115L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000618007
Start	10602149:10602149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773893493
CDS Mutation	c.1448C>T
AA Mutation	p.Ser483Leu(p.S483L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10596018:10596018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1207C>A
AA Mutation	p.Leu403Ile(p.L403I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000618007
Start	10561032:10561032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.287T>C
AA Mutation	p.Leu96Pro(p.L96P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10603580:10603580(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1468G>A
AA Mutation	p.Asp490Asn(p.D490N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10559532:10559532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.272C>A
AA Mutation	p.Ser91Tyr(p.S91Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10596079:10596079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570468666
CDS Mutation	c.1268C>T
AA Mutation	p.Ser423Leu(p.S423L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561124:10561124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148393004
CDS Mutation	c.379C>T
AA Mutation	p.Arg127Cys(p.R127C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10578406:10578406(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.926T>C
AA Mutation	p.Val309Ala(p.V309A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10541132:10541132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139096194
CDS Mutation	c.32C>T
AA Mutation	p.Ala11Val(p.A11V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561077:10561077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.332C>T
AA Mutation	p.Ala111Val(p.A111V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561088:10561088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.343T>A
AA Mutation	p.Phe115Ile(p.F115I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000618007
Start	10559544:10559544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747276081
CDS Mutation	c.284G>T
AA Mutation	p.Gly95Val(p.G95V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10577505:10577505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773573743
CDS Mutation	c.841G>A
AA Mutation	p.Val281Ile(p.V281I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10559525:10559525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.265G>A
AA Mutation	p.Val89Ile(p.V89I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10603586:10603586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1474T>A
AA Mutation	p.Cys492Ser(p.C492S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561151:10561151(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.406T>C
AA Mutation	p.Phe136Leu(p.F136L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10605430:10605430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1534A>C
AA Mutation	p.Lys512Gln(p.K512Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10577491:10577491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200020621
CDS Mutation	c.827G>A
AA Mutation	p.Arg276Gln(p.R276Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10592341:10592341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781489069
CDS Mutation	c.1138G>A
AA Mutation	p.Glu380Lys(p.E380K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10605545:10605545(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1649C>T
AA Mutation	p.Ser550Phe(p.S550F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10541153:10541153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.53G>T
AA Mutation	p.Gly18Val(p.G18V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10596080:10596080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774395404
CDS Mutation	c.1269G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10598064:10598064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1326C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10561099:10561099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.354C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10570492:10570492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761798725
CDS Mutation	c.738T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10561147:10561147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771419126
CDS Mutation	c.402C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10605447:10605447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1551T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	stop_retained_variant
Transcription ID	ENST00000618007
Start	10605552:10605552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1656A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000618007
Start	10552663:10552663(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.180delA
AA Mutation	p.Ala61HisfsTer53(p.A61Hfs*53)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000618007
Start	10602082:10602082(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1384delA
AA Mutation	p.Ile462TyrfsTer2(p.I462Yfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000618007
Start	10598095:10598095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1356+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000618007
Start	10577522:10577522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.856+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000618007
Start	10596088:10596088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369393265
CDS Mutation	c.1276+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> TPTE

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10605470:10605470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1574G>A
AA Mutation	p.Arg525Lys(p.R525K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10577491:10577491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.827G>C
AA Mutation	p.Arg276Pro(p.R276P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10561064:10561064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.319A>G
AA Mutation	p.Thr107Ala(p.T107A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000618007
Start	10596079:10596079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570468666
CDS Mutation	c.1268C>T
AA Mutation	p.Ser423Leu(p.S423L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000618007
Start	10541136:10541136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.36A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000618007
Start	10577502:10577502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755481692
CDS Mutation	c.838C>T
AA Mutation	p.Arg280Ter(p.R280*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000618007
Start	10569453:10569453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775040644
CDS Mutation	c.583C>T
AA Mutation	p.Arg195Ter(p.R195*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript