Colon Cancer: Gene >> TSC2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2053394:2053394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.278G>T
AA Mutation	p.Arg93Leu(p.R93L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2050436:2050436(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.175C>T
AA Mutation	p.Arg59Trp(p.R59W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2061920:2061920(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1169C>T
AA Mutation	p.Thr390Met(p.T390M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2056729:2056729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs397515011
CDS Mutation	c.734G>A
AA Mutation	p.Arg245His(p.R245H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2088599:2088599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376017665
CDS Mutation	c.5413G>A
AA Mutation	p.Glu1805Lys(p.E1805K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2071855:2071855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745897413
CDS Mutation	c.2018C>T
AA Mutation	p.Ala673Val(p.A673V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2080321:2080321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3554C>T
AA Mutation	p.Ala1185Val(p.A1185V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2072323:2072323(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2180C>A
AA Mutation	p.Pro727His(p.P727H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2065529:2065529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372681603
CDS Mutation	c.1610G>A
AA Mutation	p.Arg537His(p.R537H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2054303:2054303(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764529584
CDS Mutation	c.344G>A
AA Mutation	p.Arg115His(p.R115H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2088134:2088134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201206500
CDS Mutation	c.5155G>A
AA Mutation	p.Ala1719Thr(p.A1719T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2076497:2076497(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781587135
CDS Mutation	c.2749C>T
AA Mutation	p.Arg917Trp(p.R917W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2048677:2048677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.62T>C
AA Mutation	p.Leu21Pro(p.L21P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2056716:2056716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200943828
CDS Mutation	c.721G>A
AA Mutation	p.Val241Ile(p.V241I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2079067:2079067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368878445
CDS Mutation	c.3002G>T
AA Mutation	p.Gly1001Val(p.G1001V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2055449:2055449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.529C>T
AA Mutation	p.Leu177Phe(p.L177F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2055442:2055442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.522G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2056742:2056742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.747C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2074310:2074310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141728350
CDS Mutation	c.2466G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2080355:2080355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771550363
CDS Mutation	c.3588G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2079086:2079086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201516931
CDS Mutation	c.3021C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2084446:2084446(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4224C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2080310:2080310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139313964
CDS Mutation	c.3543G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2086811:2086811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs45517381
CDS Mutation	c.4929C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2084449:2084449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4227G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000219476
Start	2084499:2084499(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4279delA
AA Mutation	p.Ser1427ValfsTer49(p.S1427Vfs*49)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000219476
Start	2072848:2072848(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2221-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000219476
Start	2056711:2056713(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.718_720delATC
AA Mutation	p.Ile240del(p.I240del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> TSC2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2060790:2060790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs45517148
CDS Mutation	c.1096G>A
AA Mutation	p.Glu366Lys(p.E366K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000219476
Start	2071552:2071552(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs45437797
CDS Mutation	c.1882C>T
AA Mutation	p.Arg628Cys(p.R628C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000219476
Start	2064382:2064382(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1554C>A
Mutation Classification	Silent
Feature Type	Transcript