Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EPRS

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220020112:220020112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1225A>G
AA Mutation p.Ile409Val(p.I409V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219997050:219997050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2474C>T
AA Mutation p.Ser825Phe(p.S825F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220034979:220034979(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529651034
CDS Mutation c.166C>T
AA Mutation p.Arg56Cys(p.R56C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219984226:219984226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3070C>G
AA Mutation p.Leu1024Val(p.L1024V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220040222:220040222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149264109
CDS Mutation c.94G>A
AA Mutation p.Val32Ile(p.V32I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219979516:219979516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3811A>C
AA Mutation p.Asn1271His(p.N1271H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220024364:220024364(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.843G>T
AA Mutation p.Glu281Asp(p.E281D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219982790:219982790(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3355C>T
AA Mutation p.Arg1119Cys(p.R1119C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219997212:219997212(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2312A>T
AA Mutation p.Lys771Ile(p.K771I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220018475:220018475(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1468G>A
AA Mutation p.Asp490Asn(p.D490N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220010971:220010971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753164503
CDS Mutation c.1580T>C
AA Mutation p.Met527Thr(p.M527T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366923
Start 219980857:219980857(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3454C>T
AA Mutation p.Arg1152Cys(p.R1152C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220019059:220019059(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761087757
CDS Mutation c.1370C>T
AA Mutation p.Thr457Met(p.T457M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220033624:220033624(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.266T>C
AA Mutation p.Leu89Ser(p.L89S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220046361:220046361(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28T>C
AA Mutation p.Ser10Pro(p.S10P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219984228:219984228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3068A>C
AA Mutation p.Asn1023Thr(p.N1023T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219997050:219997050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2474C>A
AA Mutation p.Ser825Tyr(p.S825Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219983254:219983254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3235C>T
AA Mutation p.Pro1079Ser(p.P1079S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219997173:219997173(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2351T>G
AA Mutation p.Leu784Arg(p.L784R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 220006153:220006153(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1903C>A
AA Mutation p.Leu635Ile(p.L635I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366923
Start 220018996:220018996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1433A>G
AA Mutation p.Gln478Arg(p.Q478R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000366923
Start 220030430:220030430(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754799431
CDS Mutation c.579G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000366923
Start 220024397:220024397(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs573093014
CDS Mutation c.810G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000366923
Start 220001142:220001142(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2177delA
AA Mutation p.Asn726MetfsTer15(p.N726Mfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000366923
Start 219984236:219984236(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3060delA
AA Mutation p.Glu1021LysfsTer17(p.E1021Kfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000366923
Start 219984235:219984236(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3060dupA
AA Mutation p.Glu1021ArgfsTer6(p.E1021Rfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000366923
Start 220020209:220020210(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1127_1128insTATATTCCCAAAT
AA Mutation p.Tyr377IlefsTer6(p.Y377Ifs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 28
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000366923
Start 219982845:219982845(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3301-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> EPRS

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366923
Start 219968896:219968896(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4449C>A
AA Mutation p.Phe1483Leu(p.F1483L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000366923
Start 219979595:219979613(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3714_3732delAGGAACATCACATCATTTA
AA Mutation p.Thr1240ArgfsTer30(p.T1240Rfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 3
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000366923
Start 219987405:219987405(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2776-1G>T
Mutation Classification Splice_Site
Feature Type Transcript