Colon Cancer: Gene >> JAK2

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000381652
Start	5066787:5066787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560489093
CDS Mutation	c.1324G>A
AA Mutation	p.Glu442Lys(p.E442K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5055687:5055687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.955G>A
AA Mutation	p.Asp319Asn(p.D319N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5072613:5072613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1763G>T
AA Mutation	p.Arg588Ile(p.R588I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5090742:5090742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2890A>G
AA Mutation	p.Met964Val(p.M964V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5126775:5126775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377006096
CDS Mutation	c.3383A>G
AA Mutation	p.Asp1128Gly(p.D1128G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5080282:5080282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2185A>C
AA Mutation	p.Asn729His(p.N729H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054832:5054832(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.884G>A
AA Mutation	p.Gly295Glu(p.G295E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5077508:5077508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1920G>C
AA Mutation	p.Lys640Asn(p.K640N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054592:5054592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.644G>A
AA Mutation	p.Arg215Gln(p.R215Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054721:5054721(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.773T>C
AA Mutation	p.Leu258Pro(p.L258P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054681:5054681(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.733G>A
AA Mutation	p.Ala245Thr(p.A245T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5054866:5054866(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.918T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5089700:5089700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779388952
CDS Mutation	c.2598C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5072515:5072515(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1668delT
AA Mutation	p.Phe556LeufsTer12(p.F556Lfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5069193:5069193(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1502delC
AA Mutation	p.Pro501GlnfsTer10(p.P501Qfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000381652
Start	5064982:5064982(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1156G>T
AA Mutation	p.Glu386Ter(p.E386*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000381652
Start	5089770:5089770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2668G>T
AA Mutation	p.Glu890Ter(p.E890*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000381652
Start	5054768:5054768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.820G>T
AA Mutation	p.Glu274Ter(p.E274*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000381652
Start	5126702:5126702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3310G>T
AA Mutation	p.Glu1104Ter(p.E1104*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> JAK2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5054631:5054631(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760174050
CDS Mutation	c.683G>A
AA Mutation	p.Arg228Gln(p.R228Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5069145:5069145(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1450G>A
AA Mutation	p.Glu484Lys(p.E484K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5066705:5066705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1242G>T
AA Mutation	p.Lys414Asn(p.K414N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000381652
Start	5069102:5069102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1407G>T
AA Mutation	p.Lys469Asn(p.K469N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000381652
Start	5022143:5022143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.156A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000381652
Start	5089745:5089745(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2648delA
AA Mutation	p.Lys883SerfsTer10(p.K883Sfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000381652
Start	5064899:5064899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1073C>A
AA Mutation	p.Ser358Ter(p.S358*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript