Colon Cancer: Gene >> EMILIN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27080784:27080784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781472388
CDS Mutation	c.343G>A
AA Mutation	p.Asp115Asn(p.D115N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27080761:27080761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763085035
CDS Mutation	c.320G>A
AA Mutation	p.Arg107His(p.R107H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27079178:27079178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.113C>T
AA Mutation	p.Ala38Val(p.A38V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27083038:27083038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1467G>T
AA Mutation	p.Gln489His(p.Q489H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27080737:27080737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs554471085
CDS Mutation	c.296G>A
AA Mutation	p.Arg99His(p.R99H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27082899:27082899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766813380
CDS Mutation	c.1328G>A
AA Mutation	p.Arg443Gln(p.R443Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27079069:27079069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4G>C
AA Mutation	p.Ala2Pro(p.A2P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380320
Start	27079221:27079221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750223152
CDS Mutation	c.156A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380320
Start	27085260:27085260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2676C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380320
Start	27082603:27082603(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758742017
CDS Mutation	c.1032G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380320
Start	27082612:27082612(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1041C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27079189:27079189(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.129delG
AA Mutation	p.Gln45ArgfsTer20(p.Q45Rfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27080234:27080234(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.254delG
AA Mutation	p.Cys85LeufsTer29(p.C85Lfs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27083143:27083143(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1576delG
AA Mutation	p.Glu526ArgfsTer35(p.E526Rfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27080777:27080778(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.336_337delAG
AA Mutation	p.Val113AspfsTer15(p.V113Dfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27079070:27079070(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.10delC
AA Mutation	p.Arg4AlafsTer12(p.R4Afs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27080942:27080942(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.506delG
AA Mutation	p.Gly169GlufsTer20(p.G169Efs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27082917:27082918(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs763633527
CDS Mutation	c.1353dupG
AA Mutation	p.Leu452AlafsTer57(p.L452Afs*57)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380320
Start	27079210:27079211(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.151dupC
AA Mutation	p.Arg51ProfsTer23(p.R51Pfs*23)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> EMILIN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27084462:27084462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2488C>T
AA Mutation	p.Pro830Ser(p.P830S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380320
Start	27085993:27085993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3029A>G
AA Mutation	p.Asp1010Gly(p.D1010G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript