Colon Cancer: Gene >> CHEK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125653773:125653773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1261A>C
AA Mutation	p.Asn421His(p.N421H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125643803:125643803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.826C>T
AA Mutation	p.Pro276Ser(p.P276S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125644132:125644132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761313560
CDS Mutation	c.965G>A
AA Mutation	p.Arg322His(p.R322H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125655279:125655279(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1390G>T
AA Mutation	p.Asp464Tyr(p.D464Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125635483:125635483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.668A>C
AA Mutation	p.Glu223Ala(p.E223A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000428830
Start	125633245:125633245(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.507T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000428830
Start	125629239:125629239(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.297delC
AA Mutation	p.Asp99GlufsTer2(p.D99Efs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000428830
Start	125655297:125655297(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1408A>T
AA Mutation	p.Lys470Ter(p.K470*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000428830
Start	125635508:125635509(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.700dupA
AA Mutation	p.Ile234AsnfsTer11(p.I234Nfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CHEK1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000428830
Start	125633164:125633164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.426T>A
AA Mutation	p.Asp142Glu(p.D142E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000428830
Start	125633204:125633204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140276570
CDS Mutation	c.466C>T
AA Mutation	p.Arg156Trp(p.R156W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000428830
Start	125644535:125644535(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1125A>G
Mutation Classification	Silent
Feature Type	Transcript