Colon Cancer: Gene >> MLH1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37025752:37025752(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750430
CDS Mutation	c.1154G>A
AA Mutation	p.Arg385His(p.R385H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	36996623:36996623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.121G>T
AA Mutation	p.Asp41Tyr(p.D41Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	36996701:36996701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750206
CDS Mutation	c.199G>A
AA Mutation	p.Gly67Arg(p.G67R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37012037:37012037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.615G>T
AA Mutation	p.Arg205Ser(p.R205S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37012071:37012071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs4986984
CDS Mutation	c.649C>T
AA Mutation	p.Arg217Cys(p.R217C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	36996661:36996661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.159G>C
AA Mutation	p.Glu53Asp(p.E53D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	36993573:36993573(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.26G>A
AA Mutation	p.Arg9Gln(p.R9Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37047555:37047555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1768T>A
AA Mutation	p.Leu590Ile(p.L590I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	36993593:36993593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.46G>A
AA Mutation	p.Val16Met(p.V16M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37025751:37025751(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750760
CDS Mutation	c.1153C>T
AA Mutation	p.Arg385Cys(p.R385C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000231790
Start	37017571:37017571(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.860delA
AA Mutation	p.Asn287ThrfsTer10(p.N287Tfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000231790
Start	37017508:37017508(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.793delC
AA Mutation	p.Arg265ValfsTer3(p.R265Vfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000231790
Start	37028858:37028858(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs763560251
CDS Mutation	c.1489delC
AA Mutation	p.Arg497GlyfsTer11(p.R497Gfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000231790
Start	37011857:37011857(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs35847123
CDS Mutation	c.588delA
AA Mutation	p.Lys196AsnfsTer6(p.K196Nfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000231790
Start	37011856:37011857(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.588dupA
AA Mutation	p.Gln197ThrfsTer7(p.Q197Tfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MLH1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000231790
Start	37017508:37017508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63751194
CDS Mutation	c.793C>T
AA Mutation	p.Arg265Cys(p.R265C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37042295:37042295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1695T>G
AA Mutation	p.Ile565Met(p.I565M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000231790
Start	37048592:37048592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1972C>A
AA Mutation	p.Leu658Ile(p.L658I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000231790
Start	37014534:37014534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587779038
CDS Mutation	c.780C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000231790
Start	37017504:37017504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs267607794
CDS Mutation	c.791-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript