Colon Cancer: Gene >> TP53BP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223796235:223796235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2304G>A
AA Mutation	p.Met768Ile(p.M768I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223814282:223814282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200028775
CDS Mutation	c.247C>T
AA Mutation	p.Arg83Cys(p.R83C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223792462:223792462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2923G>A
AA Mutation	p.Ala975Thr(p.A975T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223814270:223814270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376720051
CDS Mutation	c.259C>T
AA Mutation	p.Arg87Cys(p.R87C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000343537
Start	223814351:223814351(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771266375
CDS Mutation	c.178C>T
AA Mutation	p.Arg60Cys(p.R60C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223800003:223800003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755330448
CDS Mutation	c.1381C>T
AA Mutation	p.Arg461Cys(p.R461C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223802305:223802305(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1036G>A
AA Mutation	p.Ala346Thr(p.A346T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223799909:223799909(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756133979
CDS Mutation	c.1475G>A
AA Mutation	p.Arg492Gln(p.R492Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223792392:223792392(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2993G>A
AA Mutation	p.Gly998Glu(p.G998E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223798652:223798652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1511T>C
AA Mutation	p.Val504Ala(p.V504A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000343537
Start	223796340:223796340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756919731
CDS Mutation	c.2199C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000343537
Start	223798396:223798396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1767G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000343537
Start	223803394:223803394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.708G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000343537
Start	223814254:223814254(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.275delC
AA Mutation	p.Pro92LeufsTer6(p.P92Lfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000343537
Start	223792429:223792429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2956C>T
AA Mutation	p.Gln986Ter(p.Q986*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000343537
Start	223814309:223814309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.220C>T
AA Mutation	p.Arg74Ter(p.R74*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000343537
Start	223802346:223802346(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.997-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> TP53BP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000343537
Start	223780872:223780872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3386G>T
AA Mutation	p.Arg1129Ile(p.R1129I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript