Colon Cancer: Gene >> PJA2

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000361189
Start	109355915:109355915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1764G>T
AA Mutation	p.Glu588Asp(p.E588D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361189
Start	109344799:109344799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1785G>C
AA Mutation	p.Glu595Asp(p.E595D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361189
Start	109368693:109368693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1337G>T
AA Mutation	p.Gly446Val(p.G446V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361189
Start	109378926:109378926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs114450388
CDS Mutation	c.561C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361189
Start	109368682:109368683(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1347dupA
AA Mutation	p.Asp450ArgfsTer6(p.D450Rfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000361189
Start	109379255:109379255(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.233-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000361189
Start	109368692:109368693(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1337_1338insACAATA
AA Mutation	p.Gly446_Thr447insGlnTyr(p.G446_T447insQY)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000361189
Start	109378339:109378340(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1147_1148insAAACCACTTCAT
AA Mutation	p.Val383delinsGluThrThrSerPhe(p.V383delinsETTSF)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PJA2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361189
Start	109344240:109344240(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1951C>G
AA Mutation	p.Pro651Ala(p.P651A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361189
Start	109378301:109378301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1186T>C
AA Mutation	p.Ser396Pro(p.S396P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361189
Start	109378965:109378965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.522T>C
Mutation Classification	Silent
Feature Type	Transcript