Colon Cancer: Gene >> EPB41L4A

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000261486
Start	112307387:112307387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200620569
CDS Mutation	c.203C>T
AA Mutation	p.Thr68Met(p.T68M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112184085:112184085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1553T>C
AA Mutation	p.Val518Ala(p.V518A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112259287:112259287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs539290653
CDS Mutation	c.737G>A
AA Mutation	p.Arg246Gln(p.R246Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112307457:112307457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528031482
CDS Mutation	c.133G>A
AA Mutation	p.Val45Ile(p.V45I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112165070:112165070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1981T>C
AA Mutation	p.Ser661Pro(p.S661P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112204462:112204462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750489592
CDS Mutation	c.1289G>A
AA Mutation	p.Arg430His(p.R430H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112307461:112307461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.129C>G
AA Mutation	p.Asp43Glu(p.D43E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112259277:112259277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.747G>T
AA Mutation	p.Lys249Asn(p.K249N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112209938:112209938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1132G>C
AA Mutation	p.Glu378Gln(p.E378Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112170338:112170338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761599799
CDS Mutation	c.1702G>A
AA Mutation	p.Glu568Lys(p.E568K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112240804:112240804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200997940
CDS Mutation	c.802G>A
AA Mutation	p.Glu268Lys(p.E268K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112184101:112184101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1537C>T
AA Mutation	p.Pro513Ser(p.P513S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112264951:112264951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.499C>T
AA Mutation	p.Pro167Ser(p.P167S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112194635:112194635(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201722745
CDS Mutation	c.1435C>T
AA Mutation	p.Arg479Cys(p.R479C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112418956:112418956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.84G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112266246:112266246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746775281
CDS Mutation	c.420G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112169066:112169066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771013845
CDS Mutation	c.1779G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112262515:112262515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765068705
CDS Mutation	c.621C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112168775:112168775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778452899
CDS Mutation	c.1896G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112205498:112205498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1185G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000261486
Start	112280276:112280276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.252C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000261486
Start	112280270:112280270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.256+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> EPB41L4A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112204426:112204426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201592124
CDS Mutation	c.1325G>A
AA Mutation	p.Arg442Gln(p.R442Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112239695:112239695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.930C>A
AA Mutation	p.Ser310Arg(p.S310R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112419007:112419007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.33T>G
AA Mutation	p.Phe11Leu(p.F11L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000261486
Start	112184016:112184016(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1622C>T
AA Mutation	p.Ser541Leu(p.S541L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000261486
Start	112194572:112194572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1498A>C
AA Mutation	p.Asn500His(p.N500H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000261486
Start	112264936:112264936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.514G>T
AA Mutation	p.Glu172Ter(p.E172*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000261486
Start	112234658:112234658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759115856
CDS Mutation	c.1063C>T
AA Mutation	p.Arg355Ter(p.R355*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript