Colon Cancer: Gene >> RECQL5

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000317905
Start	75660955:75660955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.986G>T
AA Mutation	p.Arg329Met(p.R329M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75629259:75629259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2164C>T
AA Mutation	p.His722Tyr(p.H722Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75630673:75630673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs538670883
CDS Mutation	c.1664G>A
AA Mutation	p.Arg555Gln(p.R555Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75662705:75662705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369553617
CDS Mutation	c.545G>A
AA Mutation	p.Arg182His(p.R182H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000317905
Start	75630277:75630277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1719A>C
AA Mutation	p.Glu573Asp(p.E573D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75660994:75660994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.947C>T
AA Mutation	p.Thr316Ile(p.T316I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75662628:75662628(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.622C>T
AA Mutation	p.His208Tyr(p.H208Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75627460:75627460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761941890
CDS Mutation	c.2938G>A
AA Mutation	p.Glu980Lys(p.E980K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75631549:75631549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1349G>A
AA Mutation	p.Ser450Asn(p.S450N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75630671:75630671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1666C>A
AA Mutation	p.Leu556Ile(p.L556I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75666518:75666518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.40C>T
AA Mutation	p.Arg14Trp(p.R14W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75662673:75662673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.577G>A
AA Mutation	p.Ala193Thr(p.A193T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75628757:75628757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2495G>A
AA Mutation	p.Cys832Tyr(p.C832Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75662711:75662711(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202162742
CDS Mutation	c.539G>A
AA Mutation	p.Arg180His(p.R180H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000317905
Start	75627431:75627431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2967C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000317905
Start	75629416:75629416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2007C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000317905
Start	75666489:75666489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.69C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000317905
Start	75666471:75666471(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.87delT
AA Mutation	p.Phe29LeufsTer13(p.F29Lfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> RECQL5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75662673:75662673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.577G>A
AA Mutation	p.Ala193Thr(p.A193T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75658386:75658386(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1061G>T
AA Mutation	p.Gly354Val(p.G354V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000317905
Start	75629334:75629334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2089C>T
AA Mutation	p.Pro697Ser(p.P697S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000317905
Start	75628296:75628296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761415779
CDS Mutation	c.2727C>T
Mutation Classification	Silent
Feature Type	Transcript