Colon Cancer: Gene >> CHD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93014727:93014727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746506782
CDS Mutation	c.4724G>C
AA Mutation	p.Gly1575Ala(p.G1575A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92981429:92981429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3038C>G
AA Mutation	p.Ala1013Gly(p.A1013G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92992872:92992872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3469G>T
AA Mutation	p.Ala1157Ser(p.A1157S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92948987:92948987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1413G>T
AA Mutation	p.Lys471Asn(p.K471N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93020113:93020113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775504391
CDS Mutation	c.5008T>C
AA Mutation	p.Tyr1670His(p.Y1670H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92985615:92985615(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370737593
CDS Mutation	c.3355C>T
AA Mutation	p.Arg1119Cys(p.R1119C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92972268:92972268(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2356C>T
AA Mutation	p.Leu786Phe(p.L786F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93020074:93020074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4969T>C
AA Mutation	p.Trp1657Arg(p.W1657R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92953472:92953472(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1618G>A
AA Mutation	p.Val540Ile(p.V540I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92985606:92985606(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200013427
CDS Mutation	c.3346C>T
AA Mutation	p.Arg1116Cys(p.R1116C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93020015:93020015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752891322
CDS Mutation	c.4910G>A
AA Mutation	p.Arg1637Gln(p.R1637Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92924488:92924488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.230C>A
AA Mutation	p.Pro77Gln(p.P77Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92991502:92991502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3440G>A
AA Mutation	p.Gly1147Asp(p.G1147D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93020138:93020138(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201628571
CDS Mutation	c.5033G>A
AA Mutation	p.Arg1678Gln(p.R1678Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000394196
Start	92927246:92927246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.297G>A
AA Mutation	p.Met99Ile(p.M99I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92939694:92939694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.668G>A
AA Mutation	p.Arg223His(p.R223H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93000547:93000547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4044G>T
AA Mutation	p.Lys1348Asn(p.K1348N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92979249:92979249(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs543203414
CDS Mutation	c.2842C>T
AA Mutation	p.Arg948Trp(p.R948W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92985523:92985523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3263A>G
AA Mutation	p.Asp1088Gly(p.D1088G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93004677:93004677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4339A>G
AA Mutation	p.Ile1447Val(p.I1447V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000394196
Start	93024402:93024402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781575273
CDS Mutation	c.5184C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000394196
Start	92942967:92942967(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.951C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000394196
Start	92939696:92939696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.670C>T
AA Mutation	p.Arg224Ter(p.R224*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000394196
Start	92997313:92997314(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3795_3796insTAGAA
AA Mutation	p.Asp1266Ter(p.D1266*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000394196
Start	92937588:92937589(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.522dupA
AA Mutation	p.Val175SerfsTer18(p.V175Sfs*18)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000394196
Start	92980849:92980850(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2915dupT
AA Mutation	p.Leu972PhefsTer26(p.L972Ffs*26)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000394196
Start	92997311:92997312(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3794_3795insCA
AA Mutation	p.Asp1266MetfsTer19(p.D1266Mfs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000394196
Start	93004719:93004721(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4387_4389delGAT
AA Mutation	p.Asp1463del(p.D1463del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> CHD2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92997269:92997269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3751C>T
AA Mutation	p.Arg1251Cys(p.R1251C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93002268:93002268(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4229A>C
AA Mutation	p.Asp1410Ala(p.D1410A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92996994:92996994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3633G>T
AA Mutation	p.Lys1211Asn(p.K1211N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93004657:93004657(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374157769
CDS Mutation	c.4319G>A
AA Mutation	p.Arg1440Gln(p.R1440Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93020087:93020087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4982G>T
AA Mutation	p.Arg1661Met(p.R1661M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	92992876:92992876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3473G>A
AA Mutation	p.Arg1158His(p.R1158H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000394196
Start	93002259:93002259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780455269
CDS Mutation	c.4220C>A
AA Mutation	p.Ser1407Tyr(p.S1407Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000394196
Start	92981433:92981433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3042A>G
Mutation Classification	Silent
Feature Type	Transcript