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PDMR Database User Guide
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Patient
Patient Specimen
Sample (PDX or In Vitro Culture)
Distribution Lots
Genomic Analysis
Reports
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Sample
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Patient ID
116655
Open Patient
Specimen ID
072-R
Open Specimen
Sample ID
AK7A20
Disease Body Location
Digestive/Gastrointestinal
OncoTree Code
MACR
CTEP SDC Code
10009951 - Adenocarcinoma - colon
PDM Type
PDX
Tissue Type
Resection
Patient/Originating
Specimen
Yes
No
Passage of this Sample
1
Sample
Notes
Pathology Data (if available)
Pathology Data
View
Tumor
Grade
Tumor
Content
Necrosis
Stromal
Inflammatory
Cells
Low Magnification Image
High Magnification Image
Intermediate grade or moderately differentiated
80%
10%
10%
1+ (Low)
Export
Genomic Analysis
External Genetic Analysis Data
A data file is available if a Download link is displayed:
Somatic Mutations Associated with Cancer (*.vcf and *.maf)
Whole Exome Sequencing (*.vcf)
Download
Ver:
2.0.2.51.0
Whole Exome FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.2.51.0
RNASeq FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
2.0.2.14.0
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.2.14.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
ANKRD11
p.A2265Rfs*8
0.6667
27
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
APC
p.V452Sfs*7
0.4545
55
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
APC
p.T1556Nfs*3
0.5833
120
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
BRAF
p.V600E
0.6825
63
Missense_Mutation
Oncogenic
Gain-of-function
v3.14
BRIP1
p.R173C
0.4561
57
Missense_Mutation
Inconclusive
Inconclusive
v3.14
FBXW7
p.R465C
0.5847
118
Missense_Mutation
Oncogenic
Loss-of-function
v3.14
HIST1H1D
p.A186Lfs*?
0.3942
104
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
INHA
p.L189Cfs*2
0.5182
274
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
KEAP1
p.F478Lfs*2
0.5680
169
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
KMT2C
p.K2797Rfs*26
0.6875
160
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
NOTCH3
p.K2069Rfs*16
0.6667
45
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
NOTCH3
p.X715_splice
0.3600
50
Splice_Site
Likely Oncogenic
Likely Gain-of-function
v3.14
RAD50
p.K722Rfs*14
0.5189
185
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RNF43
p.G659Vfs*41
0.4599
137
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
RNF43
p.P192Rfs*11
0.0000
391
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
TGFBR2
p.K153Afs*3
0.0000
233
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
TNFAIP3
p.E366Gfs*22
0.2105
152
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
TSC2
p.T1247Sfs*74
0.5161
62
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
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