Colon Cancer: Gene >> EPS15

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51361321:51361321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2394T>A
AA Mutation	p.Asp798Glu(p.D798E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51421852:51421852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1047G>T
AA Mutation	p.Lys349Asn(p.K349N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51402459:51402459(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1858T>G
AA Mutation	p.Phe620Val(p.F620V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51406081:51406081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1501G>T
AA Mutation	p.Asp501Tyr(p.D501Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371733
Start	51448047:51448047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201144796
CDS Mutation	c.650C>T
AA Mutation	p.Thr217Met(p.T217M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51363899:51363899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760176727
CDS Mutation	c.2326G>A
AA Mutation	p.Gly776Arg(p.G776R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51405973:51405973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1609G>T
AA Mutation	p.Ala537Ser(p.A537S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51394431:51394431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2069A>G
AA Mutation	p.His690Arg(p.H690R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51463708:51463708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149310661
CDS Mutation	c.466C>T
AA Mutation	p.Leu156Phe(p.L156F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51440400:51440400(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.987C>A
AA Mutation	p.Phe329Leu(p.F329L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371733
Start	51447037:51447037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146124807
CDS Mutation	c.720C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371733
Start	51409550:51409550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1260T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371733
Start	51361350:51361350(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2365delA
AA Mutation	p.Arg789AspfsTer14(p.R789Dfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000371733
Start	51405983:51405984(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1598_1599insATATAATGT
AA Mutation	p.Ser533delinsArgTyrAsnVal(p.S533delinsRYNV)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000371733
Start	51445017:51445018(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.825_826insTTTCCTTTT
AA Mutation	p.Gly275_Lys276insPheProPhe(p.G275_K276insFPF)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> EPS15

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51481287:51481287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.61A>C
AA Mutation	p.Lys21Gln(p.K21Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51402467:51402467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1850T>G
AA Mutation	p.Leu617Trp(p.L617W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51463710:51463710(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.464T>C
AA Mutation	p.Leu155Ser(p.L155S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371733
Start	51399033:51399033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2051C>T
AA Mutation	p.Ser684Leu(p.S684L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371733
Start	51448106:51448106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.591G>T
AA Mutation	p.Glu197Asp(p.E197D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000371733
Start	51405961:51405961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1621G>T
AA Mutation	p.Glu541Ter(p.E541*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript