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Bug #505

closed

Some genome nsSNPs missing from GET-Evidence

Added by Madeleine Ball almost 16 years ago. Updated about 15 years ago.

Status:
Closed
Priority:
Immediate
Assigned To:
Target version:
-
Story points:
-

Description

The following genomes have hundreds of nsSNPs missing when compared against GET-Evidence, implying their nsSNPs were never imported:

NA19240
PGP4
PGP9
PGP12

Note -- I have only been looking at the whole genome data. Someone should check the exomes as well before this gets closed, but the priority can be downgraded as soon as these genomes are done.

Actions #1

Updated by Madeleine Ball almost 16 years ago

Here are five missing changes from each genome:

NA19240_nsSNPs:
SEC16A-A1689V not found it GET-Evidence
MUC16-S4207L not found it GET-Evidence
NCOR2-S1509T not found it GET-Evidence
THTPA-G102R not found it GET-Evidence
TTN-R28732H not found it GET-Evidence

PGP4_nsSNPs:
VPS13B-R974T not found it GET-Evidence
KIR2DS4-K156R not found it GET-Evidence
KCNB2-H688R not found it GET-Evidence
TLR10-R799Q not found it GET-Evidence
DNAH6-V2550A not found it GET-Evidence

PGP9_nsSNPs:
MAP2-M1099V not found it GET-Evidence
KIR2DS4-K156R not found it GET-Evidence
DNAH5-E1756K not found it GET-Evidence
KARS-R420C not found it GET-Evidence
MUC21-A180V not found it GET-Evidence

PGP12_nsSNPs:
ZMYND17-L417P not found it GET-Evidence
NTRK1-T207M not found it GET-Evidence
KIAA1377-R205K not found it GET-Evidence
PDGFRA-R374S not found it GET-Evidence
C10ORF18-N556I not found it GET-Evidence

Actions #2

Updated by Tom Clegg almost 16 years ago

  • Status changed from New to Closed
  • Resolution set to fixed

These were left out of the "flat summary" dump due to bug, since fixed, in the Genome Importing Robot. I've cleaned up the resulting errors in the database, so these variants now appear in the "summary" dump.

Actions #3

Updated by Ward Vandewege about 15 years ago

  • Project changed from 19 to GET-Evidence
  • Category deleted (GET-Evidence)
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