Colon Cancer: Gene >> ITPKB

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226639597:226639597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2513A>G
AA Mutation	p.Glu838Gly(p.E838G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226735823:226735823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1636G>A
AA Mutation	p.Glu546Lys(p.E546K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226639649:226639649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746879876
CDS Mutation	c.2461G>A
AA Mutation	p.Gly821Ser(p.G821S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226737410:226737410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.49G>T
AA Mutation	p.Ala17Ser(p.A17S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226736009:226736009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753690167
CDS Mutation	c.1450G>A
AA Mutation	p.Ala484Thr(p.A484T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226737080:226737080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.379G>C
AA Mutation	p.Ala127Pro(p.A127P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226634688:226634688(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2824G>T
AA Mutation	p.Asp942Tyr(p.D942Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226735573:226735573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1886C>A
AA Mutation	p.Pro629His(p.P629H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226639636:226639636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755294781
CDS Mutation	c.2474G>A
AA Mutation	p.Arg825Gln(p.R825Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226736590:226736590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.869C>A
AA Mutation	p.Ala290Asp(p.A290D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226736368:226736368(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1091G>A
AA Mutation	p.Arg364His(p.R364H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226736917:226736917(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776363141
CDS Mutation	c.542G>A
AA Mutation	p.Arg181His(p.R181H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226736261:226736261(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374593738
CDS Mutation	c.1198G>A
AA Mutation	p.Val400Met(p.V400M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226642037:226642037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764431826
CDS Mutation	c.2335G>A
AA Mutation	p.Glu779Lys(p.E779K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000272117
Start	226736547:226736547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.912G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000272117
Start	226737405:226737405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770713467
CDS Mutation	c.54C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000272117
Start	226647205:226647205(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142941907
CDS Mutation	c.2208C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000272117
Start	226648746:226648746(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1958delA
AA Mutation	p.Asn653ThrfsTer37(p.N653Tfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ITPKB

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226634774:226634774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2738A>G
AA Mutation	p.Asp913Gly(p.D913G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000272117
Start	226648770:226648770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1934G>A
AA Mutation	p.Ser645Asn(p.S645N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000272117
Start	226647187:226647187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2226G>C
AA Mutation	p.Met742Ile(p.M742I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript