| Mutation ID |
49 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366955 |
| Start |
214641588:214641588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3250G>T |
| AA Mutation |
p.Glu1084Ter(p.E1084*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
50 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214622077:214622077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.866-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CENPF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214620697:214620697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376653860
|
| CDS Mutation |
c.616G>A |
| AA Mutation |
p.Asp206Asn(p.D206N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214641429:214641429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3091G>A |
| AA Mutation |
p.Glu1031Lys(p.E1031K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214643295:214643295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569229505
|
| CDS Mutation |
c.4957C>T |
| AA Mutation |
p.Arg1653Trp(p.R1653W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214645610:214645610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6040G>A |
| AA Mutation |
p.Glu2014Lys(p.E2014K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214642966:214642966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141012292
|
| CDS Mutation |
c.4628C>T |
| AA Mutation |
p.Ser1543Leu(p.S1543L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214641059:214641059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2721G>T |
| AA Mutation |
p.Glu907Asp(p.E907D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214642244:214642244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3906G>T |
| AA Mutation |
p.Glu1302Asp(p.E1302D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214659018:214659018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9131G>T |
| AA Mutation |
p.Arg3044Ile(p.R3044I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214644696:214644696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5126T>C |
| AA Mutation |
p.Ile1709Thr(p.I1709T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214620931:214620931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.850A>C |
| AA Mutation |
p.Lys284Gln(p.K284Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214641485:214641485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3147G>T |
| AA Mutation |
p.Lys1049Asn(p.K1049N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214648770:214648770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7926G>T |
| AA Mutation |
p.Glu2642Asp(p.E2642D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214642967:214642967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750577856
|
| CDS Mutation |
c.4629G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214642976:214642976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564882822
|
| CDS Mutation |
c.4638G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214614981:214614981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139296855
|
| CDS Mutation |
c.312G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214642691:214642691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765021891
|
| CDS Mutation |
c.4353G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214645483:214645483(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5920delA |
| AA Mutation |
p.Thr1974ProfsTer11(p.T1974Pfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366955 |
| Start |
214656980:214656980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8533G>T |
| AA Mutation |
p.Glu2845Ter(p.E2845*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366955 |
| Start |
214652927:214652927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8260G>T |
| AA Mutation |
p.Glu2754Ter(p.E2754*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366955 |
| Start |
214656989:214656989(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8542G>T |
| AA Mutation |
p.Glu2848Ter(p.E2848*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000366955 |
| Start |
214639954:214639971(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1619_1636delTTCAAGAAAAAATAAATC |
| AA Mutation |
p.Leu540_Asn545del(p.L540_N545del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|