| Mutation ID |
32 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105234196:105234197(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.254_255insGT |
| AA Mutation |
p.Tyr85Ter(p.Y85*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105276348:105276349(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5844dupA |
| AA Mutation |
p.Val1949SerfsTer7(p.V1949Sfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TET2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105237243:105237243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3301C>A |
| AA Mutation |
p.Leu1101Ile(p.L1101I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105275177:105275177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4667C>T |
| AA Mutation |
p.Ser1556Phe(p.S1556F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105236642:105236642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759813286
|
| CDS Mutation |
c.2700A>C |
| AA Mutation |
p.Lys900Asn(p.K900N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105242902:105242902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3569C>A |
| AA Mutation |
p.Ser1190Tyr(p.S1190Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105236333:105236333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144220888
|
| CDS Mutation |
c.2391C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105235514:105235514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1572G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105235577:105235577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1635C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105235364:105235364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774920451
|
| CDS Mutation |
c.1422G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380013 |
| Start |
105234387:105234387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746373398
|
| CDS Mutation |
c.445G>T |
| AA Mutation |
p.Glu149Ter(p.E149*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380013 |
| Start |
105236286:105236286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2344G>T |
| AA Mutation |
p.Glu782Ter(p.E782*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380013 |
| Start |
105236289:105236289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2347G>T |
| AA Mutation |
p.Glu783Ter(p.E783*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105234621:105234622(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs759055581
|
| CDS Mutation |
c.685dupA |
| AA Mutation |
p.Thr229AsnfsTer25(p.T229Nfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|