Colon Cancer: Gene >> MCPH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6439050:6439050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.534G>T
AA Mutation	p.Lys178Asn(p.K178N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6445249:6445249(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1527T>G
AA Mutation	p.Cys509Trp(p.C509W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6439021:6439021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.505A>C
AA Mutation	p.Asn169His(p.N169H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6444795:6444795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1073G>T
AA Mutation	p.Arg358Ile(p.R358I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6442139:6442139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.653G>A
AA Mutation	p.Arg218His(p.R218H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6643021:6643021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2480C>T
AA Mutation	p.Ala827Val(p.A827V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6445503:6445503(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs115033462
CDS Mutation	c.1781C>T
AA Mutation	p.Thr594Met(p.T594M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6621494:6621494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536823455
CDS Mutation	c.2255G>A
AA Mutation	p.Arg752His(p.R752H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6445337:6445337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1615G>A
AA Mutation	p.Asp539Asn(p.D539N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344683
Start	6499872:6499872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2157G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344683
Start	6431538:6431538(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.273C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344683
Start	6642998:6642998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2457C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344683
Start	6621546:6621546(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2312delC
AA Mutation	p.Pro771GlnfsTer8(p.P771Qfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344683
Start	6445118:6445118(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1402delA
AA Mutation	p.Thr468ProfsTer32(p.T468Pfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> MCPH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6455205:6455205(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1888C>G
AA Mutation	p.Leu630Val(p.L630V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6409321:6409321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.65A>C
AA Mutation	p.Glu22Ala(p.E22A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344683
Start	6445101:6445101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1379A>T
AA Mutation	p.Asp460Val(p.D460V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344683
Start	6444931:6444931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1209G>A
Mutation Classification	Silent
Feature Type	Transcript