Colon Cancer: Gene >> RPH3A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112847800:112847800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.188C>A
AA Mutation	p.Ala63Asp(p.A63D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112896736:112896736(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372862366
CDS Mutation	c.2041C>T
AA Mutation	p.Arg681Cys(p.R681C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112868449:112868449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.464C>T
AA Mutation	p.Ala155Val(p.A155V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112870012:112870012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.769G>A
AA Mutation	p.Ala257Thr(p.A257T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112866794:112866794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148899308
CDS Mutation	c.398G>A
AA Mutation	p.Arg133His(p.R133H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112865427:112865427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769217929
CDS Mutation	c.244C>T
AA Mutation	p.Arg82Cys(p.R82C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112876683:112876683(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.988G>C
AA Mutation	p.Glu330Gln(p.E330Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112879148:112879148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1201C>T
AA Mutation	p.Leu401Phe(p.L401F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112869943:112869943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145114678
CDS Mutation	c.700C>T
AA Mutation	p.Arg234Cys(p.R234C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389385
Start	112865505:112865505(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.322C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389385
Start	112890995:112890995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771515781
CDS Mutation	c.1767C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000389385
Start	112847778:112847778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.166G>T
AA Mutation	p.Glu56Ter(p.E56*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000389385
Start	112876680:112876680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746728163
CDS Mutation	c.985C>T
AA Mutation	p.Arg329Ter(p.R329*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000389385
Start	112869791:112869791(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.643A>T
AA Mutation	p.Lys215Ter(p.K215*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000389385
Start	112869758:112869758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.611-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> RPH3A

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112868515:112868515(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.530C>T
AA Mutation	p.Pro177Leu(p.P177L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112883398:112883398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1432C>A
AA Mutation	p.Leu478Ile(p.L478I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112869943:112869943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145114678
CDS Mutation	c.700C>T
AA Mutation	p.Arg234Cys(p.R234C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112890040:112890040(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1580C>T
AA Mutation	p.Thr527Ile(p.T527I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389385
Start	112887838:112887838(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1478T>G
AA Mutation	p.Phe493Cys(p.F493C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript