Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MED12L

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151185415:151185415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1580C>T
AA Mutation p.Ala527Val(p.A527V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151127882:151127882(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.454C>T
AA Mutation p.Pro152Ser(p.P152S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151160069:151160069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1075C>T
AA Mutation p.Pro359Ser(p.P359S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151163996:151163996(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779087284
CDS Mutation c.1211C>T
AA Mutation p.Pro404Leu(p.P404L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151190742:151190742(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747740641
CDS Mutation c.1779G>T
AA Mutation p.Lys593Asn(p.K593N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151365035:151365035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2909C>T
AA Mutation p.Ser970Leu(p.S970L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151377001:151377001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4034C>T
AA Mutation p.Ser1345Phe(p.S1345F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151193615:151193615(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2094T>A
AA Mutation p.Asn698Lys(p.N698K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151378134:151378134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4334C>A
AA Mutation p.Ser1445Tyr(p.S1445Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151367742:151367742(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777002012
CDS Mutation c.3319G>A
AA Mutation p.Ala1107Thr(p.A1107T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151365050:151365050(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2924A>G
AA Mutation p.Asp975Gly(p.D975G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151383879:151383879(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4676A>G
AA Mutation p.His1559Arg(p.H1559R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151385109:151385109(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4901T>C
AA Mutation p.Val1634Ala(p.V1634A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151377169:151377169(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4202C>T
AA Mutation p.Thr1401Ile(p.T1401I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151185334:151185334(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752139829
CDS Mutation c.1499C>T
AA Mutation p.Ala500Val(p.A500V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151416336:151416336(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6217C>T
AA Mutation p.Pro2073Ser(p.P2073S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151156191:151156191(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571847223
CDS Mutation c.587G>A
AA Mutation p.Arg196Gln(p.R196Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151372689:151372689(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3682T>C
AA Mutation p.Cys1228Arg(p.C1228R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151156288:151156288(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.684G>T
AA Mutation p.Lys228Asn(p.K228N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151368162:151368162(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200564154
CDS Mutation c.3356C>T
AA Mutation p.Ala1119Val(p.A1119V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151159854:151159854(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776507674
CDS Mutation c.860C>T
AA Mutation p.Ser287Leu(p.S287L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151369546:151369546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3556C>A
AA Mutation p.Leu1186Ile(p.L1186I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151368227:151368227(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780032486
CDS Mutation c.3421G>A
AA Mutation p.Ala1141Thr(p.A1141T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151390046:151390046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5414A>G
AA Mutation p.His1805Arg(p.H1805R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151394779:151394779(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746856557
CDS Mutation c.5627C>T
AA Mutation p.Ser1876Leu(p.S1876L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151193516:151193516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1995C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151160071:151160071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1077C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151376841:151376841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3990C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151086953:151086953(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151156243:151156243(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537676150
CDS Mutation c.639C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151355128:151355128(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199750872
CDS Mutation c.2301C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151165458:151165458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1296A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151350082:151350082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2169T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151413178:151413178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6075C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151156310:151156310(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.706C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151159999:151159999(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1011delC
AA Mutation p.Gly338AlafsTer4(p.G338Afs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 37
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151158702:151158702(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.744delA
AA Mutation p.Lys248AsnfsTer5(p.K248Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151367711:151367711(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3292delT
AA Mutation p.Ser1098ProfsTer15(p.S1098Pfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151388100:151388100(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5278delA
AA Mutation p.Thr1760ProfsTer44(p.T1760Pfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151378044:151378044(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4249delC
AA Mutation p.Leu1417SerfsTer14(p.L1417Sfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000474524
Start 151378167:151378171(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4369_4373delAAAAG
AA Mutation p.Lys1457TyrfsTer18(p.K1457Yfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000474524
Start 151413272:151413272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6169C>T
AA Mutation p.Arg2057Ter(p.R2057*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000474524
Start 151127846:151127846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.418G>T
AA Mutation p.Glu140Ter(p.E140*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000474524
Start 151376161:151376161(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3895G>T
AA Mutation p.Glu1299Ter(p.E1299*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000474524
Start 151385072:151385072(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765363421
CDS Mutation c.4864C>T
AA Mutation p.Arg1622Ter(p.R1622*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151367710:151367711(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3292dupT
AA Mutation p.Ser1098PhefsTer63(p.S1098Ffs*63)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000474524
Start 151380219:151380220(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4480_4481insGAAATAATGCATT
AA Mutation p.Asn1494ArgfsTer10(p.N1494Rfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 48
Mutation Consequence inframe_insertion;splice_region_variant
Transcription ID ENST00000474524
Start 151384218:151384219(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4821_4821+1insTACACTTATTTAACT
AA Mutation p.Lys1607_Lys1608insTyrThrTyrLeuThr(p.K1607_K1608insYTYLT)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MED12L

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151156325:151156325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.721T>C
AA Mutation p.Phe241Leu(p.F241L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151350123:151350123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780300319
CDS Mutation c.2210G>A
AA Mutation p.Arg737His(p.R737H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151372740:151372740(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3733T>C
AA Mutation p.Tyr1245His(p.Y1245H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151165483:151165483(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1321C>T
AA Mutation p.Arg441Trp(p.R441W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151156176:151156176(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.572C>A
AA Mutation p.Ser191Tyr(p.S191Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151193605:151193605(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2084T>G
AA Mutation p.Phe695Cys(p.F695C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151377085:151377085(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4118C>A
AA Mutation p.Ser1373Tyr(p.S1373Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151413273:151413273(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139235145
CDS Mutation c.6170G>A
AA Mutation p.Arg2057Gln(p.R2057Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151165852:151165852(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1364C>A
AA Mutation p.Thr455Asn(p.T455N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000474524
Start 151350167:151350167(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2254C>A
AA Mutation p.Leu752Met(p.L752M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151160005:151160005(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368805516
CDS Mutation c.1011C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151387821:151387821(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4995C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000474524
Start 151387869:151387869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5043G>A
Mutation Classification Silent
Feature Type Transcript