Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SOX9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121483:72121483(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92C>T
AA Mutation p.Ala31Val(p.A31V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121752:72121752(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.361A>G
AA Mutation p.Arg121Gly(p.R121G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122790:72122790(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.503A>G
AA Mutation p.Asp168Gly(p.D168G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72123779:72123779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.922G>T
AA Mutation p.Ala308Ser(p.A308S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122778:72122778(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.491A>C
AA Mutation p.Gln164Pro(p.Q164P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122813:72122813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.526C>T
AA Mutation p.Pro176Ser(p.P176S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72124116:72124116(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1259A>G
AA Mutation p.Tyr420Cys(p.Y420C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121720:72121720(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.329A>G
AA Mutation p.Asn110Ser(p.N110S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72124265:72124265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1408A>G
AA Mutation p.Asn470Asp(p.N470D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122801:72122801(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.514T>C
AA Mutation p.Tyr172His(p.Y172H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122811:72122811(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.524A>C
AA Mutation p.Gln175Pro(p.Q175P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72123667:72123667(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.810C>A
AA Mutation p.Phe270Leu(p.F270L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121620:72121620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.229G>T
AA Mutation p.Val77Phe(p.V77F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121812:72121812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.421A>G
AA Mutation p.Lys141Glu(p.K141E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121672:72121672(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.281G>A
AA Mutation p.Arg94His(p.R94H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121794:72121794(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.403C>T
AA Mutation p.Leu135Phe(p.L135F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72121749:72121749(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.358C>T
AA Mutation p.Arg120Cys(p.R120C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000245479
Start 72121472:72121472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000245479
Start 72121811:72121811(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.420C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123769:72123769(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.916delG
AA Mutation p.Val306CysfsTer77(p.V306Cfs*77)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123564:72123565(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.709_710delCC
AA Mutation p.Pro237ThrfsTer14(p.P237Tfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123553:72123553(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.698delG
AA Mutation p.Gly233AlafsTer20(p.G233Afs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123729:72123729(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.872delT
AA Mutation p.Val291AlafsTer92(p.V291Afs*92)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123576:72123576(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.723delC
AA Mutation p.Thr243ProfsTer10(p.T243Pfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124100:72124100(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1246delC
AA Mutation p.Gln416AsnfsTer54(p.Q416Nfs*54)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124200:72124201(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1343_1344delCC
AA Mutation p.Ser448Ter(p.S448*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72122724:72122724(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.437delT
AA Mutation p.Leu146ArgfsTer37(p.L146Rfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123618:72123619(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.764_765delAG
AA Mutation p.Glu255GlyfsTer40(p.E255Gfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124012:72124054(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1162_1204delGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGC
AA Mutation p.Glu388Ter(p.E388*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124157:72124157(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1302delC
AA Mutation p.Ile435SerfsTer35(p.I435Sfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000245479
Start 72122971:72122971(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.685+1delG
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124124:72124124(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1268delT
AA Mutation p.Phe423SerfsTer47(p.F423Sfs*47)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123974:72123974(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1121delC
AA Mutation p.Pro374ArgfsTer9(p.P374Rfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72124037:72124037(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1180C>T
AA Mutation p.Arg394Ter(p.R394*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72123593:72123593(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.736C>T
AA Mutation p.Gln246Ter(p.Q246*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72124058:72124058(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1201C>T
AA Mutation p.Gln401Ter(p.Q401*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000245479
Start 72123741:72123742(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.884_885insGGAGGAGTGTGGCAGTTTGCCATATTAAAACCAGATAAGCAAGT
AA Mutation p.Asp295GlufsTer10(p.D295Efs*10)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72122909:72122909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.622C>T
AA Mutation p.Gln208Ter(p.Q208*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000245479
Start 72123545:72123545(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.688C>T
AA Mutation p.Gln230Ter(p.Q230*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72122729:72122729(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.442G>T
AA Mutation p.Glu148Ter(p.E148*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124040:72124041(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1185_1186dupGC
AA Mutation p.His396ArgfsTer8(p.H396Rfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123621:72123622(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.766_770dupGGGCG
AA Mutation p.Pro258GlyfsTer23(p.P258Gfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123621:72123622(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.768dupG
AA Mutation p.Arg257AlafsTer39(p.R257Afs*39)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124338:72124339(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1486dupC
AA Mutation p.Gln496ProfsTer82(p.Q496Pfs*82)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123639:72123640(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.788dupG
AA Mutation p.Arg264GlnfsTer32(p.R264Qfs*32)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124021:72124022(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1165_1166dupCC
AA Mutation p.Gly390ArgfsTer14(p.G390Rfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123728:72123729(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.872_875dupTCAA
AA Mutation p.Glu293GlnfsTer4(p.E293Qfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123617:72123618(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.764_765dupAG
AA Mutation p.Gly256ArgfsTer24(p.G256Rfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124094:72124095(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1237_1238insTG
AA Mutation p.His413LeufsTer58(p.H413Lfs*58)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123772:72123773(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.917_918dupTG
AA Mutation p.Pro307CysfsTer77(p.P307Cfs*77)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124053:72124054(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1198dupG
AA Mutation p.Glu400GlyfsTer178(p.E400Gfs*178)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124073:72124074(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1217dupA
AA Mutation p.His406GlnfsTer172(p.H406Qfs*172)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123723:72123724(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.867dupC
AA Mutation p.Asp290ArgfsTer6(p.D290Rfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72121459:72121460(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.71_72dupCC
AA Mutation p.Thr25ProfsTer37(p.T25Pfs*37)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124072:72124073(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1218_1222dupCTACA
AA Mutation p.Ser408ThrfsTer64(p.S408Tfs*64)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123990:72123991(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1134_1135dupGG
AA Mutation p.Ala379GlyfsTer5(p.A379Gfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72121569:72121570(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.179dupT
AA Mutation p.Lys61GlufsTer191(p.K61Efs*191)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123621:72123622(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.767_768dupGG
AA Mutation p.Arg257GlyfsTer23(p.R257Gfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124287:72124288(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1431dupC
AA Mutation p.Thr478HisfsTer100(p.T478Hfs*100)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123673:72123674(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.818_819dupTG
AA Mutation p.Asp274TrpfsTer6(p.D274Wfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72122799:72122800(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.514dupT
AA Mutation p.Tyr172LeufsTer80(p.Y172Lfs*80)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72121574:72121575(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.185dupA
AA Mutation p.Glu63GlyfsTer189(p.E63Gfs*189)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124173:72124174(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1317dupG
AA Mutation p.Tyr440ValfsTer138(p.Y440Vfs*138)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124177:72124178(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1321dupG
AA Mutation p.Asp441GlyfsTer137(p.D441Gfs*137)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124204:72124205(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1348_1351dupTCCT
AA Mutation p.Tyr451PhefsTer128(p.Y451Ffs*128)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123768:72123769(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.916dupG
AA Mutation p.Val306GlyfsTer272(p.V306Gfs*272)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 67
Mutation Consequence splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000245479
Start 72122706:72122739(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.432-13_452delCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAA
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 68
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000245479
Start 72123542:72123542(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.686-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 69
Mutation Consequence inframe_deletion
Transcription ID ENST00000245479
Start 72122740:72122742(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.455_457delGGC
AA Mutation p.Arg152del(p.R152del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 70
Mutation Consequence inframe_deletion
Transcription ID ENST00000245479
Start 72124096:72124098(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1239_1241delCTC
AA Mutation p.His413_Ser414delinsGln(p.H413_S414delinsQ)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> SOX9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000245479
Start 72122898:72122898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.611T>A
AA Mutation p.Phe204Tyr(p.F204Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72124091:72124091(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1234C>T
AA Mutation p.Gln412Ter(p.Q412*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72123650:72123650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.793C>T
AA Mutation p.Gln265Ter(p.Q265*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72122897:72122898(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.610_611insAAG
AA Mutation p.Phe204delinsTer(p.F204delins*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72123938:72123938(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1081C>T
AA Mutation p.Gln361Ter(p.Q361*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000245479
Start 72124088:72124088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1231C>T
AA Mutation p.Gln411Ter(p.Q411*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124134:72124135(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1277_1278insGA
AA Mutation p.His427AsnfsTer44(p.H427Nfs*44)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124036:72124037(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1180dupC
AA Mutation p.Arg394ProfsTer184(p.R394Pfs*184)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72123673:72123674(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.818_819dupTG
AA Mutation p.Asp274TrpfsTer6(p.D274Wfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000245479
Start 72124286:72124287(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1432_1433dupAC
AA Mutation p.Ile480ProfsTer44(p.I480Pfs*44)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript