Colon Cancer: Gene >> PLEKHM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45475656:45475656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772069486
CDS Mutation	c.367C>T
AA Mutation	p.Arg123Trp(p.R123W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45450730:45450730(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2531G>A
AA Mutation	p.Arg844Gln(p.R844Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45458209:45458209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1539G>T
AA Mutation	p.Gln513His(p.Q513H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45475352:45475352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.671C>T
AA Mutation	p.Ser224Phe(p.S224F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45454036:45454036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760295037
CDS Mutation	c.1816C>T
AA Mutation	p.Arg606Cys(p.R606C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45477921:45477921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.275T>C
AA Mutation	p.Leu92Pro(p.L92P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45453808:45453808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2044C>T
AA Mutation	p.Pro682Ser(p.P682S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45437904:45437904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759260422
CDS Mutation	c.3125G>A
AA Mutation	p.Arg1042His(p.R1042H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45468329:45468329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1188G>T
AA Mutation	p.Gln396His(p.Q396H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45475457:45475457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764148119
CDS Mutation	c.566C>T
AA Mutation	p.Thr189Met(p.T189M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45475573:45475573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.450G>T
AA Mutation	p.Gln150His(p.Q150H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000430334
Start	45445589:45445589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528473796
CDS Mutation	c.2718G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000430334
Start	45475423:45475423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143523766
CDS Mutation	c.600G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000430334
Start	45453827:45453827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2025G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000430334
Start	45453455:45453455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2397G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000430334
Start	45453485:45453485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2367G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000430334
Start	45437905:45437905(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3124delC
AA Mutation	p.Arg1042AlafsTer24(p.R1042Afs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000430334
Start	45453908:45453908(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1944delC
AA Mutation	p.Glu649ArgfsTer62(p.E649Rfs*62)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000430334
Start	45468295:45468295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1222G>T
AA Mutation	p.Glu408Ter(p.E408*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PLEKHM1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45454075:45454075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372492506
CDS Mutation	c.1777C>T
AA Mutation	p.Arg593Cys(p.R593C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45454074:45454074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372119492
CDS Mutation	c.1778G>A
AA Mutation	p.Arg593His(p.R593H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000430334
Start	45475353:45475353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.670T>G
AA Mutation	p.Ser224Ala(p.S224A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript