Colon Cancer: Gene >> ACVRL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51915282:51915282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750085854
CDS Mutation	c.830C>T
AA Mutation	p.Thr277Met(p.T277M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51920888:51920888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1507C>A
AA Mutation	p.Gln503Lys(p.Q503K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51915369:51915369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150038846
CDS Mutation	c.917C>T
AA Mutation	p.Ala306Val(p.A306V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51916144:51916144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141764916
CDS Mutation	c.1157G>A
AA Mutation	p.Arg386His(p.R386H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51913176:51913176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768072967
CDS Mutation	c.139C>T
AA Mutation	p.Arg47Trp(p.R47W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000388922
Start	51913768:51913768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.523G>T
AA Mutation	p.Gly175Trp(p.G175W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000388922
Start	51914548:51914548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.735C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000388922
Start	51915283:51915283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.831G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000388922
Start	51913178:51913178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.141G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000388922
Start	51913755:51913755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766154423
CDS Mutation	c.510C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000388922
Start	51913177:51913177(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.145delG
AA Mutation	p.Ala49ProfsTer5(p.A49Pfs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ACVRL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51919045:51919045(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1307A>G
AA Mutation	p.Glu436Gly(p.E436G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000388922
Start	51916126:51916126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1139T>G
AA Mutation	p.Val380Gly(p.V380G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript