Colon Cancer: Gene >> COL12A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75130941:75130941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748657616
CDS Mutation	c.5978G>A
AA Mutation	p.Arg1993Gln(p.R1993Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75142089:75142089(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772992461
CDS Mutation	c.4900G>A
AA Mutation	p.Val1634Ile(p.V1634I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75146163:75146163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4499C>T
AA Mutation	p.Ala1500Val(p.A1500V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75165737:75165737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2753A>C
AA Mutation	p.Asp918Ala(p.D918A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75183535:75183535(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1406G>T
AA Mutation	p.Ser469Ile(p.S469I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75194854:75194854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.167G>T
AA Mutation	p.Arg56Ile(p.R56I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75152010:75152010(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs191757914
CDS Mutation	c.3857G>A
AA Mutation	p.Arg1286His(p.R1286H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75183353:75183353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1588A>T
AA Mutation	p.Ile530Leu(p.I530L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75180995:75180995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2108C>T
AA Mutation	p.Ala703Val(p.A703V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75133923:75133923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5599G>A
AA Mutation	p.Ala1867Thr(p.A1867T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75175236:75175236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2512C>A
AA Mutation	p.Pro838Thr(p.P838T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75128329:75128329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6307G>A
AA Mutation	p.Asp2103Asn(p.D2103N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75142122:75142122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4867G>T
AA Mutation	p.Asp1623Tyr(p.D1623Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75183926:75183926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377285294
CDS Mutation	c.1216G>A
AA Mutation	p.Ala406Thr(p.A406T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75097303:75097303(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8527T>G
AA Mutation	p.Phe2843Val(p.F2843V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75143283:75143283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781463654
CDS Mutation	c.4796G>A
AA Mutation	p.Arg1599Gln(p.R1599Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75151977:75151977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3890G>T
AA Mutation	p.Arg1297Ile(p.R1297I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75192223:75192223(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.323G>T
AA Mutation	p.Gly108Val(p.G108V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000322507
Start	75115785:75115785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7696G>A
AA Mutation	p.Ala2566Thr(p.A2566T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75132068:75132068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5809G>A
AA Mutation	p.Ala1937Thr(p.A1937T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75175256:75175256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2492A>C
AA Mutation	p.Lys831Thr(p.K831T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000322507
Start	75109020:75109020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779479987
CDS Mutation	c.8098G>A
AA Mutation	p.Ala2700Thr(p.A2700T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75113641:75113641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7801G>A
AA Mutation	p.Asp2601Asn(p.D2601N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75183407:75183407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1534T>G
AA Mutation	p.Tyr512Asp(p.Y512D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75119434:75119434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7126T>C
AA Mutation	p.Phe2376Leu(p.F2376L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75143340:75143340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761539038
CDS Mutation	c.4739G>A
AA Mutation	p.Ser1580Asn(p.S1580N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75133358:75133358(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5729C>A
AA Mutation	p.Thr1910Asn(p.T1910N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75113739:75113739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7703T>C
AA Mutation	p.Leu2568Pro(p.L2568P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75134840:75134840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201973949
CDS Mutation	c.5410C>T
AA Mutation	p.Arg1804Trp(p.R1804W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75131983:75131983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199747984
CDS Mutation	c.5894G>A
AA Mutation	p.Arg1965His(p.R1965H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75194851:75194851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.170T>C
AA Mutation	p.Ile57Thr(p.I57T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75115854:75115854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7627G>C
AA Mutation	p.Glu2543Gln(p.E2543Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000322507
Start	75145455:75145455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4561G>A
AA Mutation	p.Val1521Met(p.V1521M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75097269:75097269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8561G>A
AA Mutation	p.Gly2854Asp(p.G2854D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75155705:75155705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3400G>C
AA Mutation	p.Val1134Leu(p.V1134L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75151965:75151965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3902G>T
AA Mutation	p.Arg1301Leu(p.R1301L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75125136:75125136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6598G>C
AA Mutation	p.Gly2200Arg(p.G2200R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000322507
Start	75181211:75181211(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1892C>A
AA Mutation	p.Ala631Asp(p.A631D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75130959:75130959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201827443
CDS Mutation	c.5960G>A
AA Mutation	p.Arg1987His(p.R1987H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75155794:75155794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3311G>A
AA Mutation	p.Arg1104Gln(p.R1104Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75087687:75087687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9071G>C
AA Mutation	p.Gly3024Ala(p.G3024A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75117523:75117523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7378G>A
AA Mutation	p.Val2460Met(p.V2460M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75152396:75152396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201749138
CDS Mutation	c.3652G>A
AA Mutation	p.Val1218Met(p.V1218M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75113231:75113231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7923G>T
AA Mutation	p.Lys2641Asn(p.K2641N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75143325:75143325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4754T>G
AA Mutation	p.Phe1585Cys(p.F1585C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75175217:75175217(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2531A>G
AA Mutation	p.Tyr844Cys(p.Y844C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75183419:75183419(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1522A>C
AA Mutation	p.Asn508His(p.N508H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75154428:75154428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3553A>T
AA Mutation	p.Ile1185Phe(p.I1185F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75151256:75151256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4032G>T
AA Mutation	p.Lys1344Asn(p.K1344N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75165762:75165762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2728G>T
AA Mutation	p.Asp910Tyr(p.D910Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75124067:75124067(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151324784
CDS Mutation	c.6752G>A
AA Mutation	p.Arg2251His(p.R2251H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75165692:75165692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779848906
CDS Mutation	c.2798G>A
AA Mutation	p.Arg933His(p.R933H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75115885:75115885(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7596G>T
AA Mutation	p.Lys2532Asn(p.K2532N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75143299:75143299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4780C>T
AA Mutation	p.Arg1594Cys(p.R1594C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75119374:75119374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7186T>C
AA Mutation	p.Tyr2396His(p.Y2396H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75130227:75130227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34336755
CDS Mutation	c.6074G>A
AA Mutation	p.Arg2025His(p.R2025H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75123335:75123335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6941G>C
AA Mutation	p.Arg2314Pro(p.R2314P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75131948:75131948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5929T>C
AA Mutation	p.Ser1977Pro(p.S1977P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75151924:75151924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs185615367
CDS Mutation	c.3943G>A
AA Mutation	p.Asp1315Asn(p.D1315N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75119389:75119389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7171C>A
AA Mutation	p.Leu2391Ile(p.L2391I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75124349:75124349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6630G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75121380:75121380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377413592
CDS Mutation	c.7008C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75183246:75183246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1695G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75130892:75130892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747130111
CDS Mutation	c.6027G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75113708:75113708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368616942
CDS Mutation	c.7734G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75123367:75123367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6909A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75146177:75146177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4485G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75130142:75130142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6159G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75090270:75090270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8781G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75151925:75151925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs570245614
CDS Mutation	c.3942C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75138333:75138333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5238C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75130133:75130133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6168G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75155763:75155763(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3342G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75119137:75119137(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7260C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75156372:75156372(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3135delC
AA Mutation	p.Thr1046GlnfsTer7(p.T1046Qfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75175187:75175187(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2561delG
AA Mutation	p.Gly854ValfsTer8(p.G854Vfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75090162:75090162(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.8889delG
AA Mutation	p.Arg2964GlyfsTer113(p.R2964Gfs*113)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75151278:75151278(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.4010delA
AA Mutation	p.Asn1337MetfsTer7(p.N1337Mfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75123356:75123356(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.6920delC
AA Mutation	p.Pro2307LeufsTer21(p.P2307Lfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75124000:75124000(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.6819delT
AA Mutation	p.Phe2273LeufsTer20(p.F2273Lfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	stop_gained
Transcription ID	ENST00000322507
Start	75125241:75125241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6493G>T
AA Mutation	p.Glu2165Ter(p.E2165*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000322507
Start	75148360:75148360(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4285G>T
AA Mutation	p.Glu1429Ter(p.E1429*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75087680:75087681(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.9077dupC
AA Mutation	p.Gly3027TrpfsTer19(p.G3027Wfs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75102684:75102685(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.8327dupC
AA Mutation	p.Gly2777TrpfsTer37(p.G2777Wfs*37)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75128382:75128383(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.6253_6254insA
AA Mutation	p.Leu2085HisfsTer4(p.L2085Hfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000322507
Start	75189581:75189582(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.628dupA
AA Mutation	p.Ile210AsnfsTer4(p.I210Nfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000322507
Start	75103755:75103755(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8319+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000322507
Start	75137435:75137435(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5394+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> COL12A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75133341:75133341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778672810
CDS Mutation	c.5746G>A
AA Mutation	p.Val1916Ile(p.V1916I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75091361:75091361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759065663
CDS Mutation	c.8714G>A
AA Mutation	p.Arg2905Gln(p.R2905Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75115885:75115885(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7596G>T
AA Mutation	p.Lys2532Asn(p.K2532N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75165609:75165609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2881A>C
AA Mutation	p.Met961Leu(p.M961L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75175110:75175110(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs568432319
CDS Mutation	c.2638G>A
AA Mutation	p.Ala880Thr(p.A880T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75119099:75119099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7298C>T
AA Mutation	p.Thr2433Met(p.T2433M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75146124:75146124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4538C>T
AA Mutation	p.Thr1513Ile(p.T1513I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75192262:75192262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.284C>T
AA Mutation	p.Thr95Ile(p.T95I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75155848:75155848(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757917876
CDS Mutation	c.3257G>A
AA Mutation	p.Arg1086Gln(p.R1086Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75102662:75102662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8350C>T
AA Mutation	p.Pro2784Ser(p.P2784S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75145451:75145451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751419788
CDS Mutation	c.4565G>A
AA Mutation	p.Arg1522His(p.R1522H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75124087:75124087(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6732G>T
AA Mutation	p.Arg2244Ser(p.R2244S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75109093:75109093(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8025G>T
AA Mutation	p.Lys2675Asn(p.K2675N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75125193:75125193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368397177
CDS Mutation	c.6541G>A
AA Mutation	p.Asp2181Asn(p.D2181N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75152384:75152384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3664A>C
AA Mutation	p.Ile1222Leu(p.I1222L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75165762:75165762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2728G>T
AA Mutation	p.Asp910Tyr(p.D910Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75177750:75177750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2350C>A
AA Mutation	p.Pro784Thr(p.P784T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000322507
Start	75117424:75117424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372985511
CDS Mutation	c.7477G>A
AA Mutation	p.Glu2493Lys(p.E2493K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75202763:75202763(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.30C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75152219:75152219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3747A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75181081:75181081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2022G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75188420:75188420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.939C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75177748:75177748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2352A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75090159:75090159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8892G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000322507
Start	75175267:75175267(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs35170847
CDS Mutation	c.2481G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000322507
Start	75189639:75189639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.571G>T
AA Mutation	p.Glu191Ter(p.E191*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript