Colon Cancer: Gene >> COL21A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56171069:56171069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.700C>A
AA Mutation	p.Leu234Ile(p.L234I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56060950:56060950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2293C>A
AA Mutation	p.Pro765Thr(p.P765T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56168214:56168214(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1110T>G
AA Mutation	p.Ile370Met(p.I370M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56070750:56070750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2014C>T
AA Mutation	p.Leu672Phe(p.L672F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000244728
Start	56101473:56101473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1811C>A
AA Mutation	p.Pro604His(p.P604H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56060113:56060113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2513C>T
AA Mutation	p.Pro838Leu(p.P838L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56168266:56168266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1058G>A
AA Mutation	p.Arg353His(p.R353H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56179845:56179845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.373G>A
AA Mutation	p.Asp125Asn(p.D125N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56179873:56179873(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.345G>T
AA Mutation	p.Lys115Asn(p.K115N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56180004:56180004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.214A>G
AA Mutation	p.Lys72Glu(p.K72E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56170696:56170696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142653960
CDS Mutation	c.979G>A
AA Mutation	p.Val327Ile(p.V327I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56067320:56067320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2102G>A
AA Mutation	p.Gly701Glu(p.G701E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56171032:56171032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.737G>T
AA Mutation	p.Arg246Ile(p.R246I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56179935:56179935(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.283G>T
AA Mutation	p.Asp95Tyr(p.D95Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56168127:56168127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1197T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56171028:56171028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.741A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56166968:56166968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1216T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56179846:56179846(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759882696
CDS Mutation	c.372C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56168163:56168163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1161C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56156893:56156893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1428T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56180113:56180113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375243994
CDS Mutation	c.105G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000244728
Start	56064615:56064615(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2135delA
AA Mutation	p.Lys712ArgfsTer48(p.K712Rfs*48)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000244728
Start	56171027:56171027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.742C>T
AA Mutation	p.Gln248Ter(p.Q248*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000244728
Start	56166965:56166965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368852095
CDS Mutation	c.1219C>T
AA Mutation	p.Arg407Ter(p.R407*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000244728
Start	56057828:56057829(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2687-15_2702dupAATGTCCCATCTTAGGTCCAGAGGGCCCTCC
AA Mutation	p.Gly902MetfsTer52(p.G902Mfs*52)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000244728
Start	56060778:56060779(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2369_2370insTGTTATCTGTTTTCTTCTTCACCTCACTTATATCCTCT
AA Mutation	p.Glu790AspfsTer24(p.E790Dfs*24)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000244728
Start	56182530:56182530(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370999783
CDS Mutation	c.88+1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> COL21A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56170799:56170799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.876G>T
AA Mutation	p.Lys292Asn(p.K292N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56061022:56061022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2221G>A
AA Mutation	p.Glu741Lys(p.E741K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56179671:56179671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.547G>A
AA Mutation	p.Ala183Thr(p.A183T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56179820:56179820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.398G>A
AA Mutation	p.Arg133Gln(p.R133Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000244728
Start	56060021:56060021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2605A>C
AA Mutation	p.Lys869Gln(p.K869Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56164450:56164450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140409980
CDS Mutation	c.1344G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56059181:56059181(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2670T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000244728
Start	56180113:56180113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375243994
CDS Mutation	c.105G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000244728
Start	56060768:56060768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377112827
CDS Mutation	c.2380C>T
AA Mutation	p.Arg794Ter(p.R794*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000244728
Start	56059189:56059189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2662G>T
AA Mutation	p.Glu888Ter(p.E888*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript