| Mutation ID |
158 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151562609:151562609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13788+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
159 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000172853 |
| Start |
151545957:151545958(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.15404_15405insTTTGATTGACTT |
| AA Mutation |
p.Asp5135_Lys5136insLeuIleAspPhe(p.D5135_K5136insLIDF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151506910:151506910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200454939
|
| CDS Mutation |
c.18452C>T |
| AA Mutation |
p.Ser6151Leu(p.S6151L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151526947:151526947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.16813G>A |
| AA Mutation |
p.Ala5605Thr(p.A5605T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151531019:151531019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769388036
|
| CDS Mutation |
c.16502G>A |
| AA Mutation |
p.Arg5501His(p.R5501H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151540434:151540434(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.15699T>G |
| AA Mutation |
p.Ile5233Met(p.I5233M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151565604:151565604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13160T>C |
| AA Mutation |
p.Ile4387Thr(p.I4387T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151666287:151666287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200545007
|
| CDS Mutation |
c.4834C>T |
| AA Mutation |
p.Arg1612Cys(p.R1612C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151675322:151675322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3844C>A |
| AA Mutation |
p.Leu1282Ile(p.L1282I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151724951:151724951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747423578
|
| CDS Mutation |
c.413G>A |
| AA Mutation |
p.Arg138Gln(p.R138Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151650280:151650280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7327A>C |
| AA Mutation |
p.Ser2443Arg(p.S2443R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151663717:151663717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5594C>T |
| AA Mutation |
p.Ser1865Phe(p.S1865F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151561275:151561275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13931A>G |
| AA Mutation |
p.Asn4644Ser(p.N4644S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151650264:151650264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373589529
|
| CDS Mutation |
c.7343G>A |
| AA Mutation |
p.Arg2448His(p.R2448H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151618399:151618399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10223A>G |
| AA Mutation |
p.Lys3408Arg(p.K3408R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151643949:151643949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7825G>C |
| AA Mutation |
p.Val2609Leu(p.V2609L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151534235:151534235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.16294G>A |
| AA Mutation |
p.Ala5432Thr(p.A5432T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151666317:151666317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4804T>C |
| AA Mutation |
p.Tyr1602His(p.Y1602H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151666394:151666394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4727A>G |
| AA Mutation |
p.Tyr1576Cys(p.Y1576C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151569341:151569341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773239926
|
| CDS Mutation |
c.12359G>A |
| AA Mutation |
p.Arg4120His(p.R4120H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151627761:151627761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9176A>G |
| AA Mutation |
p.Lys3059Arg(p.K3059R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151494183:151494183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759962661
|
| CDS Mutation |
c.18989G>A |
| AA Mutation |
p.Arg6330His(p.R6330H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151519011:151519011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17546C>A |
| AA Mutation |
p.Ser5849Tyr(p.S5849Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151519747:151519747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774715573
|
| CDS Mutation |
c.17398G>A |
| AA Mutation |
p.Asp5800Asn(p.D5800N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151524405:151524405(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17282G>T |
| AA Mutation |
p.Arg5761Ile(p.R5761I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151525259:151525259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.17073G>T |
| AA Mutation |
p.Lys5691Asn(p.K5691N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151534229:151534229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771186380
|
| CDS Mutation |
c.16300G>A |
| AA Mutation |
p.Asp5434Asn(p.D5434N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151562636:151562636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs575958060
|
| CDS Mutation |
c.13763G>A |
| AA Mutation |
p.Arg4588Gln(p.R4588Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151616099:151616099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10463A>C |
| AA Mutation |
p.Lys3488Thr(p.K3488T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151644552:151644552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7560G>T |
| AA Mutation |
p.Glu2520Asp(p.E2520D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151646233:151646233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7433G>A |
| AA Mutation |
p.Arg2478Lys(p.R2478K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151662246:151662246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5859G>T |
| AA Mutation |
p.Glu1953Asp(p.E1953D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151687695:151687695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2454G>T |
| AA Mutation |
p.Lys818Asn(p.K818N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151709695:151709695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.996G>T |
| AA Mutation |
p.Glu332Asp(p.E332D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151503417:151503417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.18664A>G |
| AA Mutation |
p.Thr6222Ala(p.T6222A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151549652:151549652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.14930G>A |
| AA Mutation |
p.Arg4977His(p.R4977H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151525229:151525229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.17103C>G |
| AA Mutation |
p.Asn5701Lys(p.N5701K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151485794:151485794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.19976G>T |
| AA Mutation |
p.Gly6659Val(p.G6659V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151610044:151610044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11366T>G |
| AA Mutation |
p.Ile3789Ser(p.I3789S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151614358:151614358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10790A>C |
| AA Mutation |
p.Lys3597Thr(p.K3597T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151617380:151617380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757027644
|
| CDS Mutation |
c.10436G>A |
| AA Mutation |
p.Arg3479Gln(p.R3479Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151642842:151642842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8188G>T |
| AA Mutation |
p.Asp2730Tyr(p.D2730Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151664554:151664554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5398C>T |
| AA Mutation |
p.Pro1800Ser(p.P1800S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151672397:151672397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372694084
|
| CDS Mutation |
c.4271C>T |
| AA Mutation |
p.Thr1424Met(p.T1424M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151690783:151690783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2254G>A |
| AA Mutation |
p.Val752Ile(p.V752I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
44 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151725544:151725544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.311A>C |
| AA Mutation |
p.Lys104Thr(p.K104T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151727742:151727742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.243C>A |
| AA Mutation |
p.Phe81Leu(p.F81L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
46 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151697574:151697574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371658494
|
| CDS Mutation |
c.1227C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
47 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151568645:151568645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761813976
|
| CDS Mutation |
c.12504G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000172853 |
| Start |
151710517:151710517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.844G>T |
| AA Mutation |
p.Glu282Ter(p.E282*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
49 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000172853 |
| Start |
151537224:151537224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.16012G>T |
| AA Mutation |
p.Glu5338Ter(p.E5338*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000172853 |
| Start |
151493367:151493367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.19183G>T |
| AA Mutation |
p.Glu6395Ter(p.E6395*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
51 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000172853 |
| Start |
151567452:151567452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12769C>T |
| AA Mutation |
p.Gln4257Ter(p.Q4257*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
52 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000172853 |
| Start |
151706880:151706880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs398124167
|
| CDS Mutation |
c.1152+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|