Colon Cancer: Gene >> RNF216

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5741386:5741386(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.460A>C
AA Mutation	p.Asn154His(p.N154H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5761050:5761050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.20A>G
AA Mutation	p.Asn7Ser(p.N7S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5741233:5741233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781396306
CDS Mutation	c.613C>T
AA Mutation	p.Arg205Cys(p.R205C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5729494:5729494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1156A>G
AA Mutation	p.Ser386Gly(p.S386G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5741160:5741160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.686G>C
AA Mutation	p.Gly229Ala(p.G229A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5712820:5712820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1706C>T
AA Mutation	p.Pro569Leu(p.P569L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5741356:5741356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.490G>A
AA Mutation	p.Asp164Asn(p.D164N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5641164:5641164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2201C>A
AA Mutation	p.Thr734Asn(p.T734N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5729581:5729581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1069T>G
AA Mutation	p.Phe357Val(p.F357V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5729509:5729509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757361864
CDS Mutation	c.1141G>A
AA Mutation	p.Asp381Asn(p.D381N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000425013
Start	5623100:5623100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs35337338
CDS Mutation	c.2361C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000425013
Start	5715167:5715167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1548C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000425013
Start	5641223:5641223(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2142C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000425013
Start	5741186:5741186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762487101
CDS Mutation	c.660G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000425013
Start	5725415:5725415(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1242delA
AA Mutation	p.Lys414AsnfsTer19(p.K414Nfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000425013
Start	5725381:5725381(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1276delA
AA Mutation	p.Arg426GlyfsTer7(p.R426Gfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000425013
Start	5729492:5729493(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1157_1158insCC
AA Mutation	p.Ser387LeufsTer47(p.S387Lfs*47)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000425013
Start	5716714:5716714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1524+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> RNF216

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5730804:5730804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.964C>A
AA Mutation	p.Leu322Ile(p.L322I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5739296:5739296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.930G>T
AA Mutation	p.Lys310Asn(p.K310N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000425013
Start	5716759:5716759(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1481A>C
AA Mutation	p.Asp494Ala(p.D494A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000425013
Start	5752965:5752965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367900007
CDS Mutation	c.82C>T
AA Mutation	p.Arg28Ter(p.R28*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript