Colon Cancer: Gene >> PCOLCE2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142829800:142829800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.757G>T
AA Mutation	p.Asp253Tyr(p.D253Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142820952:142820952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375192412
CDS Mutation	c.1043C>T
AA Mutation	p.Ala348Val(p.A348V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142821024:142821024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.971C>T
AA Mutation	p.Thr324Ile(p.T324I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142823556:142823556(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.925G>T
AA Mutation	p.Gly309Cys(p.G309C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142820995:142820995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770152757
CDS Mutation	c.1000G>A
AA Mutation	p.Ala334Thr(p.A334T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142848389:142848389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.276T>G
AA Mutation	p.Asp92Glu(p.D92E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142848250:142848250(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.415G>A
AA Mutation	p.Ala139Thr(p.A139T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000295992
Start	142848219:142848219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.446G>T
AA Mutation	p.Arg149Ile(p.R149I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142823574:142823574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749513617
CDS Mutation	c.907C>T
AA Mutation	p.Arg303Trp(p.R303W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142838792:142838792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.688T>G
AA Mutation	p.Tyr230Asp(p.Y230D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295992
Start	142887771:142887771(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.90T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295992
Start	142888834:142888834(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.63G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295992
Start	142843011:142843011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.486C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000295992
Start	142818414:142818414(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1169delT
AA Mutation	p.Ile390ThrfsTer8(p.I390Tfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000295992
Start	142842933:142842934(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.563dupC
AA Mutation	p.Asn190GlufsTer9(p.N190Efs*9)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PCOLCE2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142829707:142829707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.850T>G
AA Mutation	p.Phe284Val(p.F284V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000295992
Start	142887755:142887755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.106A>C
AA Mutation	p.Ile36Leu(p.I36L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000295992
Start	142829844:142829844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.713C>T
AA Mutation	p.Pro238Leu(p.P238L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295992
Start	142848224:142848224(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753153268
CDS Mutation	c.441C>T
Mutation Classification	Silent
Feature Type	Transcript