Colon Cancer: Gene >> AMBRA1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000458649
Start	46494124:46494124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2420G>T
AA Mutation	p.Arg807Met(p.R807M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46508348:46508348(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2182G>A
AA Mutation	p.Ala728Thr(p.A728T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46547252:46547252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.239C>T
AA Mutation	p.Thr80Met(p.T80M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46417985:46417985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760302067
CDS Mutation	c.3044G>A
AA Mutation	p.Arg1015His(p.R1015H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46542425:46542425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1592A>T
AA Mutation	p.Gln531Leu(p.Q531L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46543389:46543389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777571634
CDS Mutation	c.628G>A
AA Mutation	p.Glu210Lys(p.E210K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46542339:46542339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1678C>A
AA Mutation	p.Leu560Met(p.L560M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46397766:46397766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762502501
CDS Mutation	c.3581C>T
AA Mutation	p.Thr1194Met(p.T1194M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46543202:46543202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750529053
CDS Mutation	c.815C>T
AA Mutation	p.Pro272Leu(p.P272L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46544018:46544018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.575G>T
AA Mutation	p.Gly192Val(p.G192V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46397727:46397727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3620A>G
AA Mutation	p.Gln1207Arg(p.Q1207R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46508195:46508195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2335T>G
AA Mutation	p.Phe779Val(p.F779V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000458649
Start	46493707:46493707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2422C>T
AA Mutation	p.Arg808Cys(p.R808C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46548367:46548367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14C>T
AA Mutation	p.Pro5Leu(p.P5L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458649
Start	46418041:46418041(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2988C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458649
Start	46542949:46542949(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762852821
CDS Mutation	c.1068G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458649
Start	46508352:46508352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2178C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458649
Start	46542175:46542175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1842C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000458649
Start	46542075:46542075(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1942delG
AA Mutation	p.Val648TrpfsTer84(p.V648Wfs*84)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000458649
Start	46548335:46548335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.46C>T
AA Mutation	p.Arg16Ter(p.R16*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000458649
Start	46544019:46544019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.574G>T
AA Mutation	p.Gly192Ter(p.G192*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000458649
Start	46408707:46408707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3210-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> AMBRA1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46543341:46543341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.676C>T
AA Mutation	p.Arg226Cys(p.R226C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000458649
Start	46543307:46543307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.710C>T
AA Mutation	p.Thr237Met(p.T237M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript