Colon Cancer: Gene >> MMEL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2605575:2605575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.799G>T
AA Mutation	p.Gly267Cys(p.G267C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2594836:2594836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568619305
CDS Mutation	c.1642G>A
AA Mutation	p.Ala548Thr(p.A548T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2598234:2598234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1245C>A
AA Mutation	p.Phe415Leu(p.F415L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2612189:2612189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.170G>A
AA Mutation	p.Arg57His(p.R57H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2609747:2609747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776984984
CDS Mutation	c.377G>A
AA Mutation	p.Arg126His(p.R126H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2604278:2604278(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141433545
CDS Mutation	c.820C>T
AA Mutation	p.Arg274Trp(p.R274W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2605586:2605586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.788A>G
AA Mutation	p.Tyr263Cys(p.Y263C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2594410:2594410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1722C>A
AA Mutation	p.Phe574Leu(p.F574L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2609404:2609404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775676367
CDS Mutation	c.470C>T
AA Mutation	p.Ser157Leu(p.S157L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2591056:2591056(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149151143
CDS Mutation	c.2274C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2607029:2607029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.576C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2598776:2598776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1056T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2609349:2609349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.525C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000378412
Start	2629401:2629401(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.84delG
AA Mutation	p.Leu29CysfsTer8(p.L29Cfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> MMEL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000378412
Start	2596635:2596635(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751735070
CDS Mutation	c.1327G>A
AA Mutation	p.Val443Ile(p.V443I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2595336:2595336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754727791
CDS Mutation	c.1524C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378412
Start	2591601:2591601(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2196C>A
Mutation Classification	Silent
Feature Type	Transcript