Colon Cancer: Gene >> SMAD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848559:47848559(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.913C>G
AA Mutation	p.Pro305Ala(p.P305A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47841832:47841832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1399T>C
AA Mutation	p.Ser467Pro(p.S467P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47845376:47845376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1244G>T
AA Mutation	p.Arg415Ile(p.R415I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47869330:47869330(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.433G>A
AA Mutation	p.Ala145Thr(p.A145T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47841881:47841881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1350C>G
AA Mutation	p.Asp450Glu(p.D450E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47845696:47845696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1102T>C
AA Mutation	p.Trp368Arg(p.W368R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848510:47848510(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.962G>A
AA Mutation	p.Arg321Gln(p.R321Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47845795:47845795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1003G>A
AA Mutation	p.Gly335Arg(p.G335R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848558:47848558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.914C>A
AA Mutation	p.Pro305Gln(p.P305Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000262160
Start	47841948:47841948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1283G>A
AA Mutation	p.Arg428Lys(p.R428K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848553:47848553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.919A>C
AA Mutation	p.Asn307His(p.N307H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47869404:47869404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374809046
CDS Mutation	c.359G>A
AA Mutation	p.Arg120Gln(p.R120Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000262160
Start	47845341:47845341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1279C>T
AA Mutation	p.Arg427Ter(p.R427*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47841842:47841842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1389C>A
AA Mutation	p.Cys463Ter(p.C463*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47848511:47848511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776149698
CDS Mutation	c.961C>T
AA Mutation	p.Arg321Ter(p.R321*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47868413:47868413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.565G>T
AA Mutation	p.Glu189Ter(p.E189*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47841840:47841840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1391C>A
AA Mutation	p.Ser464Ter(p.S464*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47841840:47841840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1391C>G
AA Mutation	p.Ser464Ter(p.S464*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47869339:47869339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.424G>T
AA Mutation	p.Glu142Ter(p.E142*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262160
Start	47868415:47868416(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.562_563insTT
AA Mutation	p.Thr188IlefsTer51(p.T188Ifs*51)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262160
Start	47868416:47868417(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.561_562insGGAG
AA Mutation	p.Thr188GlyfsTer9(p.T188Gfs*9)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000262160
Start	47845661:47845661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1135+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> SMAD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848558:47848558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.914C>T
AA Mutation	p.Pro305Leu(p.P305L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47848574:47848574(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.898G>A
AA Mutation	p.Asp300Asn(p.D300N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000262160
Start	47869293:47869293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.470A>C
AA Mutation	p.Lys157Thr(p.K157T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47865107:47865107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.682G>T
AA Mutation	p.Glu228Ter(p.E228*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000262160
Start	47841840:47841840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1391C>G
AA Mutation	p.Ser464Ter(p.S464*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000262160
Start	47848474:47848474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367537999
CDS Mutation	c.997+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript