Colon Cancer: Gene >> NPC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23532261:23532261(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3778A>C
AA Mutation	p.Ser1260Arg(p.S1260R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23538593:23538593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2990G>A
AA Mutation	p.Arg997Lys(p.R997K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23554960:23554960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781065429
CDS Mutation	c.1351G>A
AA Mutation	p.Glu451Lys(p.E451K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23539826:23539826(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753768576
CDS Mutation	c.2780C>T
AA Mutation	p.Ala927Val(p.A927V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23561509:23561509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.482G>A
AA Mutation	p.Arg161Gln(p.R161Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23541150:23541150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2432A>G
AA Mutation	p.Gln811Arg(p.Q811R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23541202:23541202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762138254
CDS Mutation	c.2380C>T
AA Mutation	p.Arg794Trp(p.R794W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23532215:23532215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3824T>A
AA Mutation	p.Leu1275His(p.L1275H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23541354:23541354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2325G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23554790:23554790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780100866
CDS Mutation	c.1521C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23541173:23541173(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2409T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23556531:23556531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142119577
CDS Mutation	c.1038C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23556585:23556585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760861487
CDS Mutation	c.984C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23539464:23539464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2802A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23539876:23539876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749457981
CDS Mutation	c.2730C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23572103:23572103(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.258C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23538605:23538605(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs775915490
CDS Mutation	c.2978delG
AA Mutation	p.Gly993GlufsTer4(p.G993Efs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23560248:23560248(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.864delT
AA Mutation	p.Phe288LeufsTer22(p.F288Lfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23533488:23533488(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3621delT
AA Mutation	p.Phe1207LeufsTer35(p.F1207Lfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23556540:23556540(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1029delG
AA Mutation	p.Ser344LeufsTer105(p.S344Lfs*105)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23541392:23541393(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2286_2287delCT
AA Mutation	p.Phe763CysfsTer8(p.F763Cfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000269228
Start	23539893:23539893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2713C>T
AA Mutation	p.Gln905Ter(p.Q905*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269228
Start	23541186:23541187(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2395dupT
AA Mutation	p.Cys799LeufsTer7(p.C799Lfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269228
Start	23561358:23561358(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.631+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> NPC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23540474:23540474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2578T>A
AA Mutation	p.Leu860Met(p.L860M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23554981:23554981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1330C>A
AA Mutation	p.Leu444Ile(p.L444I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23554960:23554960(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781065429
CDS Mutation	c.1351G>A
AA Mutation	p.Glu451Lys(p.E451K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23541424:23541424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2255C>T
AA Mutation	p.Ser752Phe(p.S752F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000269228
Start	23573473:23573473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.159G>T
AA Mutation	p.Lys53Asn(p.K53N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23568875:23568875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756405444
CDS Mutation	c.411G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269228
Start	23545134:23545134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1773G>T
Mutation Classification	Silent
Feature Type	Transcript