| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186344085:186344086(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3422_3423insTTTACCTG |
| AA Mutation |
p.Glu1141AspfsTer29(p.E1141Dfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000367478 |
| Start |
186362930:186362931(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602_603insACTCAACATGAA |
| AA Mutation |
p.Leu201_Lys202insLeuAsnMetLys(p.L201_K202insLNMK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TPR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186322330:186322330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6449C>A |
| AA Mutation |
p.Ala2150Asp(p.A2150D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186344555:186344555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3237G>T |
| AA Mutation |
p.Gln1079His(p.Q1079H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186317549:186317549(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373941478
|
| CDS Mutation |
c.6873G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186360844:186360844(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374064614
|
| CDS Mutation |
c.1020A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186346280:186346281(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2950_2951delGA |
| AA Mutation |
p.Glu984ArgfsTer4(p.E984Rfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367478 |
| Start |
186341281:186341281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3859G>T |
| AA Mutation |
p.Glu1287Ter(p.E1287*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367478 |
| Start |
186343454:186343454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3622G>T |
| AA Mutation |
p.Glu1208Ter(p.E1208*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367478 |
| Start |
186355477:186355477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2104G>T |
| AA Mutation |
p.Glu702Ter(p.E702*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367478 |
| Start |
186358604:186358604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1436C>A |
| AA Mutation |
p.Ser479Ter(p.S479*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367478 |
| Start |
186367958:186367958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.355G>T |
| AA Mutation |
p.Glu119Ter(p.E119*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186325823:186325824(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6051_6052dupAA |
| AA Mutation |
p.Thr2018LysfsTer69(p.T2018Kfs*69) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367478 |
| Start |
186346289:186346289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2944-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000367478 |
| Start |
186357541:186357543(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1578_1580delAAG |
| AA Mutation |
p.Ser530del(p.S530del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|