| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373644 |
| Start |
68646066:68646066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3337C>T |
| AA Mutation |
p.Gln1113Ter(p.Q1113*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68645051:68645052(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2322_2323insTTAGTTAC |
| AA Mutation |
p.Lys775LeufsTer23(p.K775Lfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TET1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573672:68573672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1334C>T |
| AA Mutation |
p.Ala445Val(p.A445V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68667078:68667078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4495C>A |
| AA Mutation |
p.Leu1499Ile(p.L1499I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68691750:68691750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757251233
|
| CDS Mutation |
c.6347A>G |
| AA Mutation |
p.Asn2116Ser(p.N2116S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68667178:68667178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780172713
|
| CDS Mutation |
c.4595G>A |
| AA Mutation |
p.Arg1532Gln(p.R1532Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68644781:68644781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2052A>C |
| AA Mutation |
p.Lys684Asn(p.K684N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68572438:68572438(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.100G>C |
| AA Mutation |
p.Ala34Pro(p.A34P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573057:68573057(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.719C>A |
| AA Mutation |
p.Pro240Gln(p.P240Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68574177:68574177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1839G>T |
| AA Mutation |
p.Lys613Asn(p.K613N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68691437:68691437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6034G>A |
| AA Mutation |
p.Ala2012Thr(p.A2012T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573174:68573174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.836C>A |
| AA Mutation |
p.Ser279Tyr(p.S279Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573627:68573627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1289C>A |
| AA Mutation |
p.Pro430His(p.P430H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68646964:68646964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4235C>A |
| AA Mutation |
p.Ser1412Tyr(p.S1412Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68572792:68572792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.454C>G |
| AA Mutation |
p.His152Asp(p.H152D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68572976:68572976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.638T>C |
| AA Mutation |
p.Ile213Thr(p.I213T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573561:68573561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1223T>A |
| AA Mutation |
p.Val408Asp(p.V408D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68690977:68690977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5574A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68573623:68573623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1285T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373644 |
| Start |
68645702:68645703(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2974_2975delAA |
| AA Mutation |
p.Lys992ValfsTer3(p.K992Vfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373644 |
| Start |
68672914:68672914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4693G>T |
| AA Mutation |
p.Gly1565Ter(p.G1565*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|