| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190980653:190980653(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1599delC |
| AA Mutation |
p.Asp534MetfsTer14(p.D534Mfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190979002:190979002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1728-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STAT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190998255:190998255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.595C>G |
| AA Mutation |
p.Leu199Val(p.L199V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190978999:190978999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1730G>A |
| AA Mutation |
p.Cys577Tyr(p.C577Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
191009065:191009065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.171T>A |
| AA Mutation |
p.Phe57Leu(p.F57L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190998227:190998227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.623A>G |
| AA Mutation |
p.Asn208Ser(p.N208S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361099 |
| Start |
191009005:191009005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.231C>A |
| AA Mutation |
p.Phe77Leu(p.F77L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361099 |
| Start |
190995204:190995204(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.801G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|