Colon Cancer: Gene >> JAK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64857769:64857769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765489448
CDS Mutation	c.1345G>A
AA Mutation	p.Ala449Thr(p.A449T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64835488:64835488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3277G>T
AA Mutation	p.Gly1093Cys(p.G1093C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64847617:64847617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1814A>T
AA Mutation	p.Tyr605Phe(p.Y605F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64864887:64864887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1076T>C
AA Mutation	p.Ile359Thr(p.I359T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64866928:64866928(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568014073
CDS Mutation	c.928G>A
AA Mutation	p.Val310Ile(p.V310I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64867031:64867031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.825A>C
AA Mutation	p.Glu275Asp(p.E275D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64844122:64844122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747502464
CDS Mutation	c.2345C>T
AA Mutation	p.Thr782Met(p.T782M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64860142:64860142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375122732
CDS Mutation	c.1297G>A
AA Mutation	p.Val433Ile(p.V433I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64844189:64844189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2278G>C
AA Mutation	p.Ala760Pro(p.A760P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64839666:64839666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2779G>A
AA Mutation	p.Glu927Lys(p.E927K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64866943:64866943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.913A>G
AA Mutation	p.Asn305Asp(p.N305D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64864824:64864824(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1139C>A
AA Mutation	p.Ser380Tyr(p.S380Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64850846:64850846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1713C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64847652:64847652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777264397
CDS Mutation	c.1779G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64879108:64879108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374624103
CDS Mutation	c.246C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64844121:64844121(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs537477751
CDS Mutation	c.2346G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64860150:64860150(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs777215086
CDS Mutation	c.1289delC
AA Mutation	p.Pro430ArgfsTer2(p.P430Rfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64841314:64841314(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2580delA
AA Mutation	p.Lys860AsnfsTer16(p.K860Nfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64864947:64864947(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1016delA
AA Mutation	p.Asn339IlefsTer3(p.N339Ifs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64873428:64873428(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.425delA
AA Mutation	p.Lys142ArgfsTer26(p.K142Rfs*26)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64864927:64864928(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1035dupA
AA Mutation	p.Leu346ThrfsTer4(p.L346Tfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000342505
Start	64837976:64837978(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3094_3096delAAG
AA Mutation	p.Lys1032del(p.K1032del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> JAK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64839606:64839606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2839G>A
AA Mutation	p.Asp947Asn(p.D947N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64867031:64867031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.825A>C
AA Mutation	p.Glu275Asp(p.E275D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64836165:64836165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3191T>C
AA Mutation	p.Val1064Ala(p.V1064A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000342505
Start	64855576:64855576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1581G>T
AA Mutation	p.Lys527Asn(p.K527N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000342505
Start	64839603:64839603(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2842G>A
AA Mutation	p.Gly948Arg(p.G948R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64855558:64855558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1599G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000342505
Start	64846671:64846671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752893517
CDS Mutation	c.1965C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64864947:64864947(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1016delA
AA Mutation	p.Asn339IlefsTer3(p.N339Ifs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000342505
Start	64841314:64841314(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2580delA
AA Mutation	p.Lys860AsnfsTer16(p.K860Nfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript