Colon Cancer: Gene >> ATXN7

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63995723:63995723(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138640161
CDS Mutation	c.1901C>T
AA Mutation	p.Ala634Val(p.A634V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63979953:63979953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376166098
CDS Mutation	c.538G>A
AA Mutation	p.Val180Ile(p.V180I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63996011:63996011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2189C>T
AA Mutation	p.Ser730Phe(p.S730F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63990757:63990757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201198489
CDS Mutation	c.1580G>A
AA Mutation	p.Arg527Gln(p.R527Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63996368:63996368(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2546G>A
AA Mutation	p.Ser849Asn(p.S849N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000295900
Start	63999450:63999450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2662C>T
AA Mutation	p.Pro888Ser(p.P888S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63913201:63913201(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758357287
CDS Mutation	c.370G>A
AA Mutation	p.Glu124Lys(p.E124K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63982338:63982338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.905C>T
AA Mutation	p.Ser302Leu(p.S302L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000295900
Start	63980029:63980029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.614G>A
AA Mutation	p.Arg205His(p.R205H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63982405:63982405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.972C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63995673:63995673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748075731
CDS Mutation	c.1851G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63996405:63996405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2583C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63979943:63979943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528008421
CDS Mutation	c.528G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63996066:63996066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2244A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63996399:63996399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2577G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000295900
Start	63996156:63996156(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2340delC
AA Mutation	p.Thr781ProfsTer11(p.T781Pfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000295900
Start	63912883:63912883(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.285G>A
AA Mutation	p.Trp95Ter(p.W95*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000295900
Start	63980169:63980169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.752+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ATXN7

Mutation ID	1
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295900
Start	63995577:63995577(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765937115
CDS Mutation	c.1755G>A
Mutation Classification	Silent
Feature Type	Transcript