Colon Cancer: Gene >> COL2A1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380518
Start	47976918:47976918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3329G>A
AA Mutation	p.Gly1110Asp(p.G1110D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974294:47974294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4112C>T
AA Mutation	p.Ala1371Val(p.A1371V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974695:47974695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4054A>G
AA Mutation	p.Thr1352Ala(p.T1352A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47973495:47973495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777416478
CDS Mutation	c.4376G>A
AA Mutation	p.Arg1459His(p.R1459H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47973490:47973490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4381C>A
AA Mutation	p.Pro1461Thr(p.P1461T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47999925:47999925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.286G>A
AA Mutation	p.Ala96Thr(p.A96T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47979534:47979534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912882
CDS Mutation	c.2710C>T
AA Mutation	p.Arg904Cys(p.R904C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000380518
Start	47985729:47985729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1679G>A
AA Mutation	p.Arg560Gln(p.R560Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47974142:47974142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754466377
CDS Mutation	c.4264C>T
AA Mutation	p.Arg1422Trp(p.R1422W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47997673:47997673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.464C>A
AA Mutation	p.Pro155His(p.P155H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47994452:47994452(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.788C>A
AA Mutation	p.Ala263Asp(p.A263D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47985777:47985777(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1631C>G
AA Mutation	p.Ala544Gly(p.A544G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	48000018:48000018(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.193G>A
AA Mutation	p.Asp65Asn(p.D65N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	48000098:48000098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.113G>T
AA Mutation	p.Gly38Val(p.G38V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47997661:47997661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.476G>T
AA Mutation	p.Gly159Val(p.G159V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47975376:47975376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142168567
CDS Mutation	c.3827G>A
AA Mutation	p.Arg1276His(p.R1276H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47985949:47985949(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1544G>A
AA Mutation	p.Arg515His(p.R515H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	48000043:48000043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.168C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47974822:47974822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774100575
CDS Mutation	c.3927C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47986417:47986417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1446T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47973521:47973521(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137948104
CDS Mutation	c.4350C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47982523:47982523(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757108462
CDS Mutation	c.2280C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380518
Start	47978742:47978742(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2750delC
AA Mutation	p.Pro917LeufsTer111(p.P917Lfs*111)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380518
Start	47977628:47977628(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3137delC
AA Mutation	p.Pro1046LeufsTer84(p.P1046Lfs*84)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380518
Start	47986428:47986428(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1435delC
AA Mutation	p.Gln479ArgfsTer150(p.Q479Rfs*150)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000380518
Start	47982583:47982584(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2219dupC
AA Mutation	p.Gly741TrpfsTer29(p.G741Wfs*29)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000380518
Start	47975315:47975315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3886+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> COL2A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000380518
Start	47977363:47977363(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3230G>A
AA Mutation	p.Gly1077Asp(p.G1077D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000380518
Start	47986868:47986868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1386C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000380518
Start	47977325:47977325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3268G>T
AA Mutation	p.Glu1090Ter(p.E1090*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript