Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BRIP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683833:61683833(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3213A>T
AA Mutation	p.Glu1071Asp(p.E1071D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61801335:61801335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1058A>G
AA Mutation	p.Tyr353Cys(p.Y353C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683660:61683660(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3386C>A
AA Mutation	p.Ser1129Tyr(p.S1129Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61801366:61801366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1027C>A
AA Mutation	p.Leu343Met(p.L343M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61776444:61776444(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2054A>C
AA Mutation	p.Gln685Pro(p.Q685P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683633:61683633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3413A>G
AA Mutation	p.Asp1138Gly(p.D1138G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61744446:61744446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2243A>G
AA Mutation	p.Tyr748Cys(p.Y748C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61684026:61684026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3020C>A
AA Mutation	p.Ser1007Tyr(p.S1007Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61784411:61784411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1487C>T
AA Mutation	p.Ala496Val(p.A496V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683868:61683868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149016505
CDS Mutation	c.3178G>A
AA Mutation	p.Val1060Ile(p.V1060I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683423:61683423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3623A>G
AA Mutation	p.Asp1208Gly(p.D1208G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61685940:61685940(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2801T>G
AA Mutation	p.Phe934Cys(p.F934C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61686114:61686114(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750961319
CDS Mutation	c.2627G>A
AA Mutation	p.Ser876Asn(p.S876N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61780337:61780337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1859T>G
AA Mutation	p.Met620Arg(p.M620R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61780325:61780325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587781321
CDS Mutation	c.1871C>T
AA Mutation	p.Ser624Leu(p.S624L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259008
Start	61776440:61776440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2058T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259008
Start	61744457:61744457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374362388
CDS Mutation	c.2232C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259008
Start	61686059:61686059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2682A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259008
Start	61857212:61857212(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs186802750
CDS Mutation	c.225C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000259008
Start	61683696:61683696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3350C>G
AA Mutation	p.Ser1117Ter(p.S1117*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000259008
Start	61801324:61801324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769081927
CDS Mutation	c.1069G>T
AA Mutation	p.Glu357Ter(p.E357*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000259008
Start	61784355:61784355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1543G>T
AA Mutation	p.Glu515Ter(p.E515*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000259008
Start	61784387:61784388(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs775735278
CDS Mutation	c.1510dupA
AA Mutation	p.Ile504AsnfsTer7(p.I504Nfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000259008
Start	61801456:61801458(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.935_937delTTT
AA Mutation	p.Phe312del(p.F312del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> BRIP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61799152:61799152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1288A>G
AA Mutation	p.Ile430Val(p.I430V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61683780:61683780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3266C>G
AA Mutation	p.Ser1089Cys(p.S1089C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000259008
Start	61685892:61685892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2849A>C
AA Mutation	p.Lys950Thr(p.K950T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259008
Start	61744457:61744457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374362388
CDS Mutation	c.2232C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000259008
Start	61808706:61808706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.679C>T
AA Mutation	p.Gln227Ter(p.Q227*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript