Colon Cancer: Gene >> SPINT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344051
Start	40856036:40856036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1310G>A
AA Mutation	p.Cys437Tyr(p.C437Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344051
Start	40856910:40856910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1525T>A
AA Mutation	p.Ser509Thr(p.S509T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344051
Start	40854511:40854511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751324782
CDS Mutation	c.1103C>T
AA Mutation	p.Ala368Val(p.A368V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344051
Start	40855899:40855899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1173C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344051
Start	40853584:40853584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747321527
CDS Mutation	c.699G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344051
Start	40854517:40854517(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1113delA
AA Mutation	p.Lys371AsnfsTer82(p.K371Nfs*82)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344051
Start	40853922:40853922(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.958delC
AA Mutation	p.Gln320ArgfsTer133(p.Q320Rfs*133)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000344051
Start	40854637:40854637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1115-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> SPINT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344051
Start	40844844:40844844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.290G>T
AA Mutation	p.Cys97Phe(p.C97F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript