Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> C9orf78

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000372447
Start 129830998:129830998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.415C>A
AA Mutation p.Pro139Thr(p.P139T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000372447
Start 129828203:129828204(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.827_828insT
AA Mutation p.Tyr277LeufsTer4(p.Y277Lfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 3
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000372447
Start 129834767:129834767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566348414
CDS Mutation c.84-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 4
Mutation Consequence inframe_deletion
Transcription ID ENST00000372447
Start 129829258:129829260(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.723_725delAGA
AA Mutation p.Glu242del(p.E242del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> C9orf78

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000372447
Start 129828191:129828191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.840G>T
AA Mutation p.Glu280Asp(p.E280D)
Mutation Classification Missense_Mutation
Feature Type Transcript