Colon Cancer: Gene >> JAK3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17844344:17844344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.74C>T
AA Mutation	p.Ala25Val(p.A25V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17831370:17831370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2836G>A
AA Mutation	p.Val946Met(p.V946M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17834955:17834955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201784993
CDS Mutation	c.2096C>T
AA Mutation	p.Ala699Val(p.A699V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17837176:17837176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587778414
CDS Mutation	c.1739C>T
AA Mutation	p.Ser580Leu(p.S580L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17844377:17844377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780084832
CDS Mutation	c.41G>A
AA Mutation	p.Arg14His(p.R14H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17830182:17830182(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3133C>A
AA Mutation	p.Pro1045Thr(p.P1045T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17834892:17834892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2159G>A
AA Mutation	p.Ser720Asn(p.S720N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17840273:17840273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1211G>A
AA Mutation	p.Ser404Asn(p.S404N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000458235
Start	17834878:17834878(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2173C>T
AA Mutation	p.Pro725Ser(p.P725S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17843035:17843035(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.558G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17844271:17844271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.147G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17838374:17838374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1458C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17832619:17832619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201157971
CDS Mutation	c.2580C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17843095:17843095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201527800
CDS Mutation	c.498C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17837151:17837151(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201482851
CDS Mutation	c.1764C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17832568:17832568(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2631A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17832664:17832664(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200746503
CDS Mutation	c.2535C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17834909:17834909(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2142G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17837163:17837163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200582253
CDS Mutation	c.1752C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17834888:17834888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200715301
CDS Mutation	c.2163C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000458235
Start	17843834:17843834(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.251delC
AA Mutation	p.Pro84ArgfsTer63(p.P84Rfs*63)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000458235
Start	17844303:17844303(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.115delC
AA Mutation	p.Gln39SerfsTer108(p.Q39Sfs*108)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000458235
Start	17834610:17834610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2311C>T
AA Mutation	p.Arg771Ter(p.R771*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000458235
Start	17844302:17844303(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs755706305
CDS Mutation	c.115dupC
AA Mutation	p.Gln39ProfsTer13(p.Q39Pfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000458235
Start	17831694:17831695(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2764_2784dupGATGCCAGCCGCCTCCTTCTC
AA Mutation	p.Asp922_Leu928dup(p.D922_L928dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> JAK3

Mutation ID	1
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000458235
Start	17832694:17832694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201199096
CDS Mutation	c.2505C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	stop_gained
Transcription ID	ENST00000458235
Start	17834697:17834697(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2224C>T
AA Mutation	p.Gln742Ter(p.Q742*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript