Colon Cancer: Gene >> POLD1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000440232
Start	50417096:50417096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3119A>G
AA Mutation	p.Glu1040Gly(p.E1040G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50402259:50402259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.644C>T
AA Mutation	p.Ala215Val(p.A215V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50406261:50406261(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376711125
CDS Mutation	c.1322C>T
AA Mutation	p.Thr441Met(p.T441M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50402289:50402289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144979965
CDS Mutation	c.674G>A
AA Mutation	p.Arg225His(p.R225H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50406299:50406299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1360C>T
AA Mutation	p.Arg454Cys(p.R454C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000440232
Start	50406322:50406322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1383G>T
AA Mutation	p.Gln461His(p.Q461H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50409560:50409560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2048G>A
AA Mutation	p.Arg683His(p.R683H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50413784:50413784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759190487
CDS Mutation	c.2293G>A
AA Mutation	p.Val765Met(p.V765M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000440232
Start	50402373:50402373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.758G>A
AA Mutation	p.Arg253Gln(p.R253Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50406218:50406218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1279C>A
AA Mutation	p.Leu427Ile(p.L427I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50416678:50416678(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3022C>T
AA Mutation	p.Arg1008Cys(p.R1008C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50408795:50408795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1786G>A
AA Mutation	p.Val596Ile(p.V596I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50413851:50413851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199783227
CDS Mutation	c.2360C>T
AA Mutation	p.Pro787Leu(p.P787L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50402119:50402119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.584G>A
AA Mutation	p.Arg195Gln(p.R195Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50403136:50403136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762330164
CDS Mutation	c.1054C>T
AA Mutation	p.Arg352Cys(p.R352C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50409600:50409600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2088C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50415793:50415793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2787C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50417083:50417083(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3106C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50398869:50398869(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771540531
CDS Mutation	c.18G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50413855:50413855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2364G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50416656:50416656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766451656
CDS Mutation	c.3000C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50398884:50398884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs3218768
CDS Mutation	c.33C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50402638:50402638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.867C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000440232
Start	50415462:50415462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2589C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000440232
Start	50402067:50402067(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.537delG
AA Mutation	p.Arg180GlyfsTer3(p.R180Gfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000440232
Start	50401798:50401798(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.342delG
AA Mutation	p.Pro116HisfsTer53(p.P116Hfs*53)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000440232
Start	50401804:50401804(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.347delC
AA Mutation	p.Pro116HisfsTer53(p.P116Hfs*53)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000440232
Start	50415796:50415797(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2792dupA
AA Mutation	p.Val933CysfsTer21(p.V933Cfs*21)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000440232
Start	50409147:50409148(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1923dupC
AA Mutation	p.Thr642HisfsTer97(p.T642Hfs*97)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000440232
Start	50409518:50409518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2007-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000440232
Start	50416609:50416609(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2959delG
AA Mutation	p.Asp987ThrfsTer58(p.X987_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000440232
Start	50403492:50403492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1138-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000440232
Start	50414868:50414870(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs763850764
CDS Mutation	c.2446_2448delTCC
AA Mutation	p.Ser816del(p.S816del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> POLD1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50417182:50417182(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3131T>C
AA Mutation	p.Leu1044Pro(p.L1044P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50414981:50414981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2555T>G
AA Mutation	p.Leu852Arg(p.L852R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50415505:50415505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2632A>G
AA Mutation	p.Ile878Val(p.I878V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000440232
Start	50407391:50407391(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1751C>T
AA Mutation	p.Ala584Val(p.A584V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript