Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MED12

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71121387:71121387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.796C>T
AA Mutation	p.Arg266Cys(p.R266C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71126063:71126063(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749801457
CDS Mutation	c.2450G>A
AA Mutation	p.Arg817His(p.R817H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71129814:71129814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3826G>A
AA Mutation	p.Asp1276Asn(p.D1276N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71132936:71132936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4507C>A
AA Mutation	p.Leu1503Ile(p.L1503I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374080
Start	71118853:71118853(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.99G>T
AA Mutation	p.Glu33Asp(p.E33D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71136312:71136312(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5057C>T
AA Mutation	p.Ser1686Leu(p.S1686L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71121136:71121136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.719C>T
AA Mutation	p.Ala240Val(p.A240V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71127074:71127074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2791C>G
AA Mutation	p.Arg931Gly(p.R931G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71140702:71140702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762612521
CDS Mutation	c.6112G>A
AA Mutation	p.Val2038Ile(p.V2038I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71131572:71131572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4070G>A
AA Mutation	p.Arg1357His(p.R1357H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71135161:71135161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4933A>G
AA Mutation	p.Thr1645Ala(p.T1645A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71130059:71130059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3892A>G
AA Mutation	p.Lys1298Glu(p.K1298E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71127036:71127036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2753A>G
AA Mutation	p.Tyr918Cys(p.Y918C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71125487:71125487(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2363C>A
AA Mutation	p.Ala788Glu(p.A788E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71128649:71128649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3406A>G
AA Mutation	p.Ile1136Val(p.I1136V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71132481:71132481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4358A>C
AA Mutation	p.Lys1453Thr(p.K1453T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71142203:71142203(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6519A>G
AA Mutation	p.Ile2173Met(p.I2173M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71131570:71131570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4068G>A
AA Mutation	p.Met1356Ile(p.M1356I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374080
Start	71121436:71121436(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.845G>A
AA Mutation	p.Arg282Gln(p.R282Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71132516:71132516(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4393C>T
AA Mutation	p.Arg1465Cys(p.R1465C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71127074:71127074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2791C>T
AA Mutation	p.Arg931Trp(p.R931W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71137563:71137563(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5754T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71141238:71141238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6276G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71121744:71121744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1029G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71125449:71125449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2325C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71141271:71141271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6309A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71134843:71134843(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4858T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71135163:71135163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4935C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71124334:71124334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1920T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71123617:71123617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1641A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71140791:71140791(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375793297
CDS Mutation	c.6201A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374080
Start	71130173:71130173(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4009delG
AA Mutation	p.Glu1337LysfsTer8(p.E1337Kfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000374080
Start	71126059:71126059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2446C>T
AA Mutation	p.Arg816Ter(p.R816*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained;inframe_insertion
Transcription ID	ENST00000374080
Start	71123144:71123145(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1535_1536insATCATAAAA
AA Mutation	p.Ser513_Cys514insTer(p.S513_C514ins*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000374080
Start	71141247:71141248(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs777164189
CDS Mutation	c.6306_6308dupGCA
AA Mutation	p.Gln2115dup(p.Q2115dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MED12

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71122753:71122753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760696164
CDS Mutation	c.1364G>A
AA Mutation	p.Arg455Gln(p.R455Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71121105:71121105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.688A>G
AA Mutation	p.Ile230Val(p.I230V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374080
Start	71118852:71118852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.98A>G
AA Mutation	p.Glu33Gly(p.E33G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374080
Start	71140855:71140855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6265C>T
AA Mutation	p.Arg2089Trp(p.R2089W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71120057:71120057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.440C>G
AA Mutation	p.Ala147Gly(p.A147G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374080
Start	71129159:71129159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3521G>A
AA Mutation	p.Arg1174His(p.R1174H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374080
Start	71119862:71119862(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs202125318
CDS Mutation	c.381G>A
Mutation Classification	Silent
Feature Type	Transcript