Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PIK3R1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68226755:68226755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.80G>T
AA Mutation	p.Gly27Val(p.G27V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68294673:68294673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1563A>G
AA Mutation	p.Ile521Met(p.I521M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68292339:68292339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.997T>A
AA Mutation	p.Trp333Arg(p.W333R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68295278:68295278(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1699A>G
AA Mutation	p.Lys567Glu(p.K567E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68295273:68295273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1694G>A
AA Mutation	p.Ser565Asn(p.S565N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68295180:68295180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1601G>A
AA Mutation	p.Arg534Gln(p.R534Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68297473:68297473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2047G>A
AA Mutation	p.Glu683Lys(p.E683K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68226953:68226953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765266397
CDS Mutation	c.278G>A
AA Mutation	p.Arg93Gln(p.R93Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68295475:68295475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1801G>C
AA Mutation	p.Glu601Gln(p.E601Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521381
Start	68296288:68296288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1932C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521381
Start	68226924:68226924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771574512
CDS Mutation	c.249G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521381
Start	68292302:68292302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201809898
CDS Mutation	c.960C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521381
Start	68280610:68280610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745860837
CDS Mutation	c.717G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521381
Start	68226913:68226913(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.244delA
AA Mutation	p.Ile82SerfsTer32(p.I82Sfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521381
Start	68226865:68226865(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.193delG
AA Mutation	p.Glu65LysfsTer10(p.E65Kfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68226829:68226829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.154G>T
AA Mutation	p.Glu52Ter(p.E52*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68293790:68293790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1381C>T
AA Mutation	p.Arg461Ter(p.R461*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68296247:68296247(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1891C>T
AA Mutation	p.Arg631Ter(p.R631*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68293806:68293806(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1397T>G
AA Mutation	p.Leu466Ter(p.L466*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521381
Start	68226912:68226913(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.244dupA
AA Mutation	p.Ile82AsnfsTer24(p.I82Nfs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521381
Start	68226946:68226947(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.273_274dupAC
AA Mutation	p.Pro92HisfsTer23(p.P92Hfs*23)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000521381
Start	68293781:68293782(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1378dupA
AA Mutation	p.Ser460LysfsTer5(p.S460Kfs*5)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000521381
Start	68295419:68295419(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1746-1G>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID	ENST00000521381
Start	68295411:68295422(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1746-6_1751delTTTCAGGTGGTT
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000521381
Start	68295418:68295418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1746-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000521381
Start	68293379:68293396(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1196_1213delGTTCTGTGGTTGAATTAA
AA Mutation	p.Ser399_Leu404del(p.S399_L404del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000521381
Start	68295476:68295477(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1802_1803insCCAATT
AA Mutation	p.Glu601delinsAspGlnLeu(p.E601delinsDQL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PIK3R1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68279722:68279722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.623C>A
AA Mutation	p.Ser208Tyr(p.S208Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000521381
Start	68295442:68295442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1768C>T
AA Mutation	p.Arg590Trp(p.R590W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000521381
Start	68226942:68226942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766793298
CDS Mutation	c.267C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68293123:68293123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1042C>T
AA Mutation	p.Arg348Ter(p.R348*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68226730:68226730(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.55G>T
AA Mutation	p.Glu19Ter(p.E19*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68293340:68293340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1156C>T
AA Mutation	p.Arg386Ter(p.R386*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68293781:68293781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1372G>T
AA Mutation	p.Glu458Ter(p.E458*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000521381
Start	68294638:68294638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1528G>T
AA Mutation	p.Glu510Ter(p.E510*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000521381
Start	68293758:68293763(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1351_1356delGAATAT
AA Mutation	p.Glu451_Tyr452del(p.E451_Y452del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000521381
Start	68295295:68295297(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1717_1719delCTG
AA Mutation	p.Leu573del(p.L573del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000521381
Start	68293745:68293789(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1336_1380delGGGAAAAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGT
AA Mutation	p.Gly446_Ser460del(p.G446_S460del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript