Colon Cancer: Gene >> ESCO1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21573945:21573945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs575811331
CDS Mutation	c.899G>A
AA Mutation	p.Arg300Gln(p.R300Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21574138:21574138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373573118
CDS Mutation	c.706G>A
AA Mutation	p.Glu236Lys(p.E236K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21574050:21574050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367553775
CDS Mutation	c.794C>T
AA Mutation	p.Ser265Leu(p.S265L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21564277:21564277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1747C>T
AA Mutation	p.His583Tyr(p.H583Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21539924:21539924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2039A>C
AA Mutation	p.Lys680Thr(p.K680T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21573375:21573375(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1469A>C
AA Mutation	p.Lys490Thr(p.K490T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269214
Start	21532547:21532547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200274497
CDS Mutation	c.2301C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269214
Start	21574376:21574376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.468A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269214
Start	21574789:21574789(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.55delA
AA Mutation	p.Ser19ValfsTer17(p.S19Vfs*17)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269214
Start	21574545:21574545(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.299delA
AA Mutation	p.Lys100ArgfsTer8(p.K100Rfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000269214
Start	21573832:21573832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1012G>T
AA Mutation	p.Glu338Ter(p.E338*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269214
Start	21574228:21574229(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.615dupA
AA Mutation	p.Arg206ThrfsTer12(p.R206Tfs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269214
Start	21574729:21574730(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.114dupA
AA Mutation	p.Ser39IlefsTer12(p.S39Ifs*12)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> ESCO1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21573821:21573821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1023G>T
AA Mutation	p.Leu341Phe(p.L341F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21567988:21567988(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1637A>C
AA Mutation	p.Lys546Thr(p.K546T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21573945:21573945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs575811331
CDS Mutation	c.899G>A
AA Mutation	p.Arg300Gln(p.R300Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21574745:21574745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.99G>T
AA Mutation	p.Lys33Asn(p.K33N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21574006:21574006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.838C>A
AA Mutation	p.Pro280Thr(p.P280T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000269214
Start	21564306:21564306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200657231
CDS Mutation	c.1718G>A
AA Mutation	p.Arg573Gln(p.R573Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000269214
Start	21564210:21564210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1814T>A
AA Mutation	p.Leu605Ter(p.L605*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript