Colon Cancer: Gene >> SAP130

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127949907:127949907(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2732A>G
AA Mutation	p.Tyr911Cys(p.Y911C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127945556:127945556(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2774A>G
AA Mutation	p.Glu925Gly(p.E925G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127949929:127949929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2710C>T
AA Mutation	p.Arg904Trp(p.R904W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	128000402:128000402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139785439
CDS Mutation	c.1000C>T
AA Mutation	p.Arg334Cys(p.R334C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127993225:127993225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1517C>T
AA Mutation	p.Pro506Leu(p.P506L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127955180:127955180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376315873
CDS Mutation	c.2201C>T
AA Mutation	p.Pro734Leu(p.P734L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	128016519:128016519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.455G>A
AA Mutation	p.Arg152His(p.R152H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127986821:127986821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2000G>T
AA Mutation	p.Arg667Leu(p.R667L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127945506:127945506(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2824C>T
AA Mutation	p.Arg942Cys(p.R942C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000259235
Start	127996429:127996429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147076612
CDS Mutation	c.1354G>A
AA Mutation	p.Glu452Lys(p.E452K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259235
Start	127999778:127999778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1254C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259235
Start	127955320:127955320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2061C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259235
Start	128026218:128026218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.153C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000259235
Start	128010340:128010340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.876T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000259235
Start	127989756:127989756(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1666C>T
AA Mutation	p.Arg556Ter(p.R556*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000259235
Start	127942444:127942444(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2968C>T
AA Mutation	p.Arg990Ter(p.R990*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000259235
Start	127942038:127942039(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.3114dupA
AA Mutation	p.Val1039SerfsTer26(p.V1039Sfs*26)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000259235
Start	127950308:127950309(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2495dupC
AA Mutation	p.Arg833LysfsTer17(p.R833Kfs*17)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SAP130

Mutation ID	1
Mutation Consequence	stop_gained
Transcription ID	ENST00000259235
Start	128014806:128014806(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.694C>T
AA Mutation	p.Arg232Ter(p.R232*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript