Colon Cancer: Gene >> UBE3A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25375615:25375615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.220G>A
AA Mutation	p.Glu74Lys(p.E74K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371430:25371430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.753A>C
AA Mutation	p.Lys251Asn(p.K251N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25370685:25370685(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1498C>T
AA Mutation	p.Arg500Cys(p.R500C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25354617:25354617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2200C>T
AA Mutation	p.Arg734Trp(p.R734W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371758:25371758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.425A>G
AA Mutation	p.Glu142Gly(p.E142G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371384:25371384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745363984
CDS Mutation	c.799G>A
AA Mutation	p.Val267Met(p.V267M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000397954
Start	25354530:25354530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144567527
CDS Mutation	c.2287C>T
AA Mutation	p.Arg763Trp(p.R763W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25375732:25375732(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369572863
CDS Mutation	c.103C>T
AA Mutation	p.Arg35Cys(p.R35C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25355973:25355973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2052G>T
AA Mutation	p.Gln684His(p.Q684H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371570:25371570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.613G>A
AA Mutation	p.Glu205Lys(p.E205K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25340130:25340130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2462G>T
AA Mutation	p.Gly821Val(p.G821V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371068:25371068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1115C>T
AA Mutation	p.Ser372Leu(p.S372L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25405486:25405486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.46T>C
AA Mutation	p.Ser16Pro(p.S16P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25371247:25371247(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs576963061
CDS Mutation	c.936G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25375535:25375535(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.300G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25356694:25356694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1965C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25371526:25371526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746769407
CDS Mutation	c.657G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25371220:25371220(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.963A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397954
Start	25340185:25340185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2407A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397954
Start	25371505:25371505(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.678delA
AA Mutation	p.Lys226AsnfsTer2(p.K226Nfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397954
Start	25375523:25375523(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.312delC
AA Mutation	p.Asn105ThrfsTer7(p.N105Tfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000397954
Start	25371510:25371510(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.673C>T
AA Mutation	p.Gln225Ter(p.Q225*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000397954
Start	25356047:25356047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1978C>T
AA Mutation	p.Gln660Ter(p.Q660*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000397954
Start	25340140:25340140(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2452G>T
AA Mutation	p.Gly818Ter(p.G818*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000397954
Start	25356880:25356881(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1778_1779insATAAAATCTAAGAGAC
AA Mutation	p.Asp593GlufsTer2(p.D593Efs*2)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> UBE3A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371107:25371107(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780050034
CDS Mutation	c.1076G>A
AA Mutation	p.Arg359Gln(p.R359Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371347:25371347(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200496882
CDS Mutation	c.836G>A
AA Mutation	p.Arg279Gln(p.R279Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25371774:25371774(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs566793027
CDS Mutation	c.409C>A
AA Mutation	p.Leu137Ile(p.L137I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25375693:25375693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.142G>A
AA Mutation	p.Ala48Thr(p.A48T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25354415:25354415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2301C>A
AA Mutation	p.Phe767Leu(p.F767L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397954
Start	25356714:25356714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1945C>T
AA Mutation	p.Arg649Cys(p.R649C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript