Colon Cancer: Gene >> PKLR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155295239:155295239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.571T>A
AA Mutation	p.Phe191Ile(p.F191I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155293484:155293484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1223C>T
AA Mutation	p.Thr408Ile(p.T408I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155294263:155294263(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1088C>T
AA Mutation	p.Ala363Val(p.A363V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155295453:155295453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.491C>T
AA Mutation	p.Thr164Ile(p.T164I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155291792:155291792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1582G>T
AA Mutation	p.Asp528Tyr(p.D528Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155295230:155295230(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.580C>T
AA Mutation	p.Arg194Trp(p.R194W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155294558:155294558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148435198
CDS Mutation	c.889G>A
AA Mutation	p.Val297Ile(p.V297I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155295147:155295147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761145518
CDS Mutation	c.663C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155295518:155295518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.426A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155293456:155293456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767981692
CDS Mutation	c.1251G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155294598:155294598(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.849C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342741
Start	155294336:155294336(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1015delG
AA Mutation	p.Asp339ThrfsTer2(p.D339Tfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342741
Start	155294609:155294609(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.838delG
AA Mutation	p.Val280TrpfsTer41(p.V280Wfs*41)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342741
Start	155295712:155295712(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.328delG
AA Mutation	p.Ala110ProfsTer3(p.A110Pfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000342741
Start	155295694:155295694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.346C>T
AA Mutation	p.Arg116Ter(p.R116*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PKLR

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342741
Start	155295711:155295711(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.329C>T
AA Mutation	p.Ala110Val(p.A110V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000342741
Start	155294484:155294484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.963G>T
AA Mutation	p.Lys321Asn(p.K321N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155294337:155294337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1014G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155294571:155294571(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.876C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342741
Start	155295674:155295674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.366C>T
Mutation Classification	Silent
Feature Type	Transcript