Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMARCA4

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000344626
Start	10996542:10996542(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1810G>A
AA Mutation	p.Glu604Lys(p.E604K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10989340:10989340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749059769
CDS Mutation	c.1142G>A
AA Mutation	p.Arg381Gln(p.R381Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11035013:11035013(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4051G>A
AA Mutation	p.Asp1351Asn(p.D1351N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033396:11033396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3653C>T
AA Mutation	p.Ala1218Val(p.A1218V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11035067:11035067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4105C>A
AA Mutation	p.Arg1369Ser(p.R1369S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11030889:11030889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3542A>C
AA Mutation	p.His1181Pro(p.H1181P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033773:11033773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3781C>T
AA Mutation	p.His1261Tyr(p.H1261Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11021731:11021731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2623T>C
AA Mutation	p.Trp875Arg(p.W875R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033300:11033300(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3557C>T
AA Mutation	p.Ala1186Val(p.A1186V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033309:11033309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3566G>A
AA Mutation	p.Arg1189Gln(p.R1189Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033803:11033803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3811T>C
AA Mutation	p.Phe1271Leu(p.F1271L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10985304:10985304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751542188
CDS Mutation	c.254C>T
AA Mutation	p.Ser85Leu(p.S85L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11013046:11013046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2372C>T
AA Mutation	p.Ala791Val(p.A791V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11060099:11060099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375672575
CDS Mutation	c.4823G>A
AA Mutation	p.Arg1608Gln(p.R1608Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11021761:11021761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs281875227
CDS Mutation	c.2653C>T
AA Mutation	p.Arg885Cys(p.R885C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11035110:11035110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4148T>C
AA Mutation	p.Leu1383Pro(p.L1383P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10989328:10989328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1130G>A
AA Mutation	p.Arg377His(p.R377H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000344626
Start	11060047:11060047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4771C>T
AA Mutation	p.Arg1591Trp(p.R1591W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11035029:11035029(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4067G>A
AA Mutation	p.Arg1356Gln(p.R1356Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10991177:10991177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1273C>T
AA Mutation	p.Arg425Trp(p.R425W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11030828:11030828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3481C>T
AA Mutation	p.Leu1161Phe(p.L1161F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11007959:11007959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751565055
CDS Mutation	c.2059A>G
AA Mutation	p.Lys687Glu(p.K687E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11013056:11013056(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373048420
CDS Mutation	c.2382G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10991260:10991260(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1356C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11027916:11027916(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3348T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11060109:11060109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558890921
CDS Mutation	c.4833C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10994884:10994884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs528531511
CDS Mutation	c.1476C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10991248:10991248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140328531
CDS Mutation	c.1344C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10996293:10996293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147798066
CDS Mutation	c.1674C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10989344:10989344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1146T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11025505:11025505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774483875
CDS Mutation	c.3165C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10989425:10989425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1227G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11003355:11003355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757029847
CDS Mutation	c.1959G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11041465:11041465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373999751
CDS Mutation	c.4329C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	11030751:11030751(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3407delG
AA Mutation	p.Gly1136AlafsTer4(p.G1136Afs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	11041491:11041491(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4358delC
AA Mutation	p.Pro1453LeufsTer10(p.P1453Lfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	10987864:10987864(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1062delC
AA Mutation	p.Ile355SerfsTer56(p.I355Sfs*56)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	10985372:10985372(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.326delC
AA Mutation	p.Pro109ArgfsTer194(p.P109Rfs*194)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	10984292:10984293(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.144dupG
AA Mutation	p.Pro49AlafsTer33(p.P49Afs*33)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	11018994:11018995(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2481dupC
AA Mutation	p.Ser828LeufsTer117(p.S828Lfs*117)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SMARCA4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033341:11033341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3598C>T
AA Mutation	p.Arg1200Cys(p.R1200C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033317:11033317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3574C>T
AA Mutation	p.Arg1192Cys(p.R1192C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10986233:10986233(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.400G>A
AA Mutation	p.Val134Ile(p.V134I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11019661:11019661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs281875226
CDS Mutation	c.2576C>T
AA Mutation	p.Thr859Met(p.T859M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10996356:10996356(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1737G>T
AA Mutation	p.Glu579Asp(p.E579D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	11041324:11041324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199847974
CDS Mutation	c.4188G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	10986408:10986408(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.579delG
AA Mutation	p.Gln194SerfsTer109(p.Q194Sfs*109)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript