Colon Cancer: Gene >> TSC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132896521:132896521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3209C>G
AA Mutation	p.Ala1070Gly(p.A1070G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132897329:132897329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751362258
CDS Mutation	c.2830G>A
AA Mutation	p.Ala944Thr(p.A944T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132897537:132897537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2699A>G
AA Mutation	p.Gln900Arg(p.Q900R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132896651:132896651(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375394001
CDS Mutation	c.3079C>T
AA Mutation	p.Arg1027Trp(p.R1027W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132896302:132896302(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201867031
CDS Mutation	c.3428C>T
AA Mutation	p.Pro1143Leu(p.P1143L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132912318:132912318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.877A>G
AA Mutation	p.Thr293Ala(p.T293A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132905602:132905602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118203609
CDS Mutation	c.1976C>T
AA Mutation	p.Ala659Val(p.A659V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132921913:132921913(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118203402
CDS Mutation	c.569G>A
AA Mutation	p.Arg190His(p.R190H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132896311:132896311(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751126355
CDS Mutation	c.3419C>T
AA Mutation	p.Pro1140Leu(p.P1140L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132905939:132905939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1639A>G
AA Mutation	p.Thr547Ala(p.T547A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132901671:132901671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2420T>G
AA Mutation	p.Ile807Ser(p.I807S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000298552
Start	132921363:132921363(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.737G>T
AA Mutation	p.Arg246Met(p.R246M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132923355:132923355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.501G>T
AA Mutation	p.Lys167Asn(p.K167N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132925735:132925735(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.215T>G
AA Mutation	p.Leu72Arg(p.L72R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000298552
Start	132896409:132896409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118203752
CDS Mutation	c.3321C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000298552
Start	132906803:132906803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1366C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000298552
Start	132903804:132903804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2055A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000298552
Start	132921874:132921874(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.608delT
AA Mutation	p.Leu203CysfsTer7(p.L203Cfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000298552
Start	132910577:132910577(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs118203506
CDS Mutation	c.1257delC
AA Mutation	p.Arg420GlyfsTer20(p.R420Gfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000298552
Start	132897507:132897507(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2729delT
AA Mutation	p.Leu910TrpfsTer21(p.L910Wfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000298552
Start	132906781:132906781(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1388delT
AA Mutation	p.Leu463Ter(p.L463*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000298552
Start	132904455:132904455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118203614
CDS Mutation	c.1998-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000298552
Start	132911057:132911059(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1084_1086delCCT
AA Mutation	p.Pro362del(p.P362del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> TSC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132896546:132896546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118203745
CDS Mutation	c.3184C>T
AA Mutation	p.Arg1062Trp(p.R1062W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132921431:132921431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.669G>T
AA Mutation	p.Met223Ile(p.M223I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000298552
Start	132923355:132923355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.501G>T
AA Mutation	p.Lys167Asn(p.K167N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000298552
Start	132905601:132905601(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs35958226
CDS Mutation	c.1977G>A
Mutation Classification	Silent
Feature Type	Transcript