Colon Cancer: Gene >> SMAD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67190511:67190511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1253G>T
AA Mutation	p.Ser418Ile(p.S418I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67164992:67164992(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.304G>A
AA Mutation	p.Glu102Lys(p.E102K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67184829:67184829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.974G>A
AA Mutation	p.Gly325Asp(p.G325D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181384:67181384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs794727798
CDS Mutation	c.802C>T
AA Mutation	p.Arg268Cys(p.R268C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181441:67181441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs387906850
CDS Mutation	c.859C>T
AA Mutation	p.Arg287Trp(p.R287W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67187374:67187374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1019T>C
AA Mutation	p.Leu340Pro(p.L340P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67184846:67184846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.991G>A
AA Mutation	p.Val331Ile(p.V331I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67190517:67190517(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762012589
CDS Mutation	c.1259G>A
AA Mutation	p.Arg420His(p.R420H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67165297:67165297(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.445G>A
AA Mutation	p.Glu149Lys(p.E149K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181334:67181334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.752C>T
AA Mutation	p.Ser251Leu(p.S251L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181385:67181385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.803G>A
AA Mutation	p.Arg268His(p.R268H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67187377:67187377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1022A>C
AA Mutation	p.Lys341Thr(p.K341T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000327367
Start	67166780:67166780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.534G>T
AA Mutation	p.Glu178Asp(p.E178D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181297:67181297(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs387906853
CDS Mutation	c.715G>A
AA Mutation	p.Glu239Lys(p.E239K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67164927:67164927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758823376
CDS Mutation	c.239G>A
AA Mutation	p.Arg80Gln(p.R80Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67190439:67190439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1181G>T
AA Mutation	p.Cys394Phe(p.C394F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67164956:67164956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.268C>T
AA Mutation	p.Arg90Cys(p.R90C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000327367
Start	67066301:67066301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.147C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327367
Start	67164976:67164979(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.289_292delCTGC
AA Mutation	p.Leu97ThrfsTer18(p.L97Tfs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327367
Start	67165302:67165302(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.455delC
AA Mutation	p.Pro152HisfsTer34(p.P152Hfs*34)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000327367
Start	67066221:67066221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.67C>T
AA Mutation	p.Gln23Ter(p.Q23*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000327367
Start	67164970:67164970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.282G>A
AA Mutation	p.Trp94Ter(p.W94*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000327367
Start	67066281:67066281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.127A>T
AA Mutation	p.Lys43Ter(p.K43*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327367
Start	67165301:67165302(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.455dupC
AA Mutation	p.Leu153ThrfsTer13(p.L153Tfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327367
Start	67184843:67184844(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.990dupC
AA Mutation	p.Val331ArgfsTer31(p.V331Rfs*31)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SMAD3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67187491:67187491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1136G>C
AA Mutation	p.Gly379Ala(p.G379A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181292:67181292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.710A>G
AA Mutation	p.Tyr237Cys(p.Y237C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67165059:67165059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.371C>T
AA Mutation	p.Pro124Leu(p.P124L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000327367
Start	67166780:67166780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.534G>T
AA Mutation	p.Glu178Asp(p.E178D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000327367
Start	67181439:67181439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.857C>G
AA Mutation	p.Thr286Arg(p.T286R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript