Colon Cancer: Gene >> NGLY1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25764254:25764254(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375732599
CDS Mutation	c.304C>T
AA Mutation	p.Arg102Cys(p.R102C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25733900:25733900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142766875
CDS Mutation	c.1232G>A
AA Mutation	p.Arg411Gln(p.R411Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25737406:25737406(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201791209
CDS Mutation	c.931G>A
AA Mutation	p.Glu311Lys(p.E311K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25720106:25720106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1697G>T
AA Mutation	p.Ser566Ile(p.S566I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000280700
Start	25764067:25764067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749441809
CDS Mutation	c.491C>T
AA Mutation	p.Thr164Met(p.T164M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25736024:25736024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1129A>C
AA Mutation	p.Ile377Leu(p.I377L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25737355:25737355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.982C>T
AA Mutation	p.Arg328Cys(p.R328C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280700
Start	25751159:25751159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369840629
CDS Mutation	c.597G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000280700
Start	25739647:25739647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.811C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000280700
Start	25764256:25764257(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.301dupA
AA Mutation	p.Ile101AsnfsTer3(p.I101Nfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> NGLY1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25720169:25720169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1634G>T
AA Mutation	p.Gly545Val(p.G545V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000280700
Start	25729317:25729317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1427G>T
AA Mutation	p.Arg476Ile(p.R476I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000280700
Start	25732338:25732338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1406G>A
AA Mutation	p.Arg469Gln(p.R469Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000280700
Start	25733901:25733901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146140738
CDS Mutation	c.1231C>T
AA Mutation	p.Arg411Ter(p.R411*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript