Colon Cancer: Gene >> PEAK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77133540:77133540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3542G>T
AA Mutation	p.Cys1181Phe(p.C1181F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77133304:77133304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3778C>T
AA Mutation	p.Pro1260Ser(p.P1260S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77179964:77179964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1963G>A
AA Mutation	p.Glu655Lys(p.E655K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77179129:77179129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767709962
CDS Mutation	c.2798G>A
AA Mutation	p.Arg933His(p.R933H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77181010:77181010(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.917C>A
AA Mutation	p.Ala306Asp(p.A306D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77179442:77179442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2485G>A
AA Mutation	p.Ala829Thr(p.A829T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77181256:77181256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.671G>T
AA Mutation	p.Arg224Leu(p.R224L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77133234:77133234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759499979
CDS Mutation	c.3848G>A
AA Mutation	p.Arg1283Gln(p.R1283Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77114682:77114682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376471511
CDS Mutation	c.4715G>A
AA Mutation	p.Arg1572Gln(p.R1572Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000312493
Start	77133005:77133005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4077G>T
AA Mutation	p.Lys1359Asn(p.K1359N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77158659:77158659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374560887
CDS Mutation	c.3175C>T
AA Mutation	p.Arg1059Trp(p.R1059W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77181041:77181041(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.886C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77180460:77180460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754934083
CDS Mutation	c.1467C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77180769:77180769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751539483
CDS Mutation	c.1158T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77179701:77179701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2226G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77133512:77133512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745478452
CDS Mutation	c.3570C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77114852:77114852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372472603
CDS Mutation	c.4545C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77179209:77179209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2718A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000312493
Start	77115099:77115099(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4298delA
AA Mutation	p.Asn1433ThrfsTer19(p.N1433Tfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000312493
Start	77179340:77179340(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2587delC
AA Mutation	p.Gln863LysfsTer186(p.Q863Kfs*186)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant;start_lost
Transcription ID	ENST00000312493
Start	77181926:77181926(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1delA
AA Mutation	p.Met1?(p.M1?)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000312493
Start	77133125:77133125(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3957delT
AA Mutation	p.Phe1319LeufsTer11(p.F1319Lfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000312493
Start	77180244:77180245(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1682_1683insGAGCATAAGTTGGCTCGTCATGAATGAT
AA Mutation	p.Arg562SerfsTer34(p.R562Sfs*34)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PEAK1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77114976:77114976(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4421T>G
AA Mutation	p.Phe1474Cys(p.F1474C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77181019:77181019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771512988
CDS Mutation	c.908G>T
AA Mutation	p.Arg303Ile(p.R303I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77114502:77114502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4895C>T
AA Mutation	p.Ser1632Phe(p.S1632F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000312493
Start	77180143:77180143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1784T>G
AA Mutation	p.Phe595Cys(p.F595C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77180496:77180496(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374860881
CDS Mutation	c.1431C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312493
Start	77115215:77115215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4182C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000312493
Start	77180339:77180339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1588C>T
AA Mutation	p.Arg530Ter(p.R530*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript