Mutation

Primary Site >> Stomach Cancer

Gene >> BAP1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52403218:52403218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369065146
CDS Mutation	c.1810G>A
AA Mutation	p.Val604Met(p.V604M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52406302:52406302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.734T>C
AA Mutation	p.Leu245Pro(p.L245P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52407266:52407266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.488G>A
AA Mutation	p.Arg163Gln(p.R163Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52403509:52403509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1636T>C
AA Mutation	p.Tyr546His(p.Y546H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52408038:52408038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.295G>A
AA Mutation	p.Val99Met(p.V99M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52409869:52409869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10G>T
AA Mutation	p.Gly4Cys(p.G4C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52404501:52404501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1202A>G
AA Mutation	p.Tyr401Cys(p.Y401C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52403523:52403523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1622T>G
AA Mutation	p.Val541Gly(p.V541G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52402379:52402379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2099G>A
AA Mutation	p.Arg700Gln(p.R700Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000460680
Start	52403493:52403493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759448397
CDS Mutation	c.1652G>A
AA Mutation	p.Arg551His(p.R551H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000460680
Start	52403189:52403189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756450018
CDS Mutation	c.1839G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000460680
Start	52405226:52405226(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1000C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000460680
Start	52405895:52405895(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.801G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000460680
Start	52405186:52405204(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1022_1040delGCAGCCTCAATGGGGTTCA
AA Mutation	p.Ser341ThrfsTer15(p.S341Tfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000460680
Start	52409577:52409577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.99C>A
AA Mutation	p.Tyr33Ter(p.Y33*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript