Colon Cancer: Gene >> PAX6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31790011:31790011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1192T>C
AA Mutation	p.Ser398Pro(p.S398P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31793786:31793786(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.782G>A
AA Mutation	p.Arg261Gln(p.R261Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31790846:31790846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1047C>G
AA Mutation	p.Ser349Arg(p.S349R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31793490:31793490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.980G>A
AA Mutation	p.Ser327Asn(p.S327N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31800840:31800840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.374G>T
AA Mutation	p.Arg125Ile(p.R125I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31793455:31793455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1015A>G
AA Mutation	p.Asn339Asp(p.N339D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31801674:31801674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.244G>A
AA Mutation	p.Glu82Lys(p.E82K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000241001
Start	31790804:31790804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369447790
CDS Mutation	c.1089G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000241001
Start	31794637:31794637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766564648
CDS Mutation	c.675G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000241001
Start	31800782:31800782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.432T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000241001
Start	31794761:31794761(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.551delG
AA Mutation	p.Gly184GlufsTer23(p.G184Efs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000241001
Start	31790769:31790769(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1124delC
AA Mutation	p.Pro375HisfsTer7(p.P375Hfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000241001
Start	31802715:31802715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.130C>T
AA Mutation	p.Arg44Ter(p.R44*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000241001
Start	31790768:31790769(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs756801119
CDS Mutation	c.1124dupC
AA Mutation	p.His376ThrfsTer36(p.H376Tfs*36)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PAX6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31793744:31793744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.824G>T
AA Mutation	p.Arg275Ile(p.R275I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31794726:31794726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.586G>T
AA Mutation	p.Asp196Tyr(p.D196Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31794090:31794090(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.707A>C
AA Mutation	p.Asp236Ala(p.D236A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000241001
Start	31801672:31801672(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.246A>C
AA Mutation	p.Glu82Asp(p.E82D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript