Colon Cancer: Gene >> BBS9

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33349119:33349119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780524334
CDS Mutation	c.1381G>A
AA Mutation	p.Val461Met(p.V461M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33534044:33534044(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2389A>C
AA Mutation	p.Ser797Arg(p.S797R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33533967:33533967(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370662412
CDS Mutation	c.2312C>T
AA Mutation	p.Thr771Met(p.T771M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33155645:33155645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs541526329
CDS Mutation	c.271G>A
AA Mutation	p.Glu91Lys(p.E91K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33505620:33505620(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757754301
CDS Mutation	c.2273C>T
AA Mutation	p.Pro758Leu(p.P758L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33533985:33533985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2330C>T
AA Mutation	p.Ser777Phe(p.S777F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33257251:33257251(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.458G>A
AA Mutation	p.Cys153Tyr(p.C153Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33387995:33387995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762045410
CDS Mutation	c.1966C>T
AA Mutation	p.Arg656Trp(p.R656W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33383822:33383822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1946T>C
AA Mutation	p.Ile649Thr(p.I649T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33383722:33383722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1846C>T
AA Mutation	p.Leu616Phe(p.L616F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33152812:33152812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.224G>A
AA Mutation	p.Arg75Gln(p.R75Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33505470:33505470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2123C>A
AA Mutation	p.Ala708Asp(p.A708D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33505640:33505640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2293G>A
AA Mutation	p.Glu765Lys(p.E765K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242067
Start	33357862:33357862(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779586578
CDS Mutation	c.1560G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242067
Start	33357865:33357865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1563A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242067
Start	33340943:33340943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs61764066
CDS Mutation	c.1245C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242067
Start	33155698:33155698(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.324C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000242067
Start	33152746:33152747(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.163dupC
AA Mutation	p.His55ProfsTer47(p.H55Pfs*47)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> BBS9

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000242067
Start	33533972:33533972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2317G>A
AA Mutation	p.Asp773Asn(p.D773N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000242067
Start	33340928:33340928(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1230C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000242067
Start	33388019:33388019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1990G>T
AA Mutation	p.Glu664Ter(p.E664*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000242067
Start	33273141:33273141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767005321
CDS Mutation	c.832C>T
AA Mutation	p.Arg278Ter(p.R278*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript