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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
625472
Open Patient
Specimen ID
104-R
Open Specimen
Sample ID
H67WG0
Disease Body Location
Digestive/Gastrointestinal
OncoTree Code
COAD
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
75%
15%
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:
2.0.1.50.0
Whole Exome FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
1.2
RNASeq FASTQ (*.FASTQ.gz; for paired-end sequence, download both files)
Download Read1 FASTQ
Download Read2 FASTQ
Ver:
1.2
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.1.4.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
ASXL1
p.G645Wfs*12
0.0000
193
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
ATRX
p.N633Tfs*16
0.5129
310
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
BCOR
p.R1514*
0.5000
62
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
BCORL1
p.M644Hfs*21
0.4879
662
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
BCORL1
p.Q798*
0.5304
609
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
BRAF
p.V600E
1.0000
94
Missense_Mutation
Oncogenic
Gain-of-function
v3.14
BRCA2
p.Y1220Ifs*8
0.6790
352
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
CASP8
p.R292W
0.5063
239
Missense_Mutation
Likely Oncogenic
Unknown
v3.14
CCND3
p.P284L
1.0000
148
Missense_Mutation
Likely Oncogenic
Likely Gain-of-function
v3.14
CDKN1A
p.R83Gfs*65
0.4529
276
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
CDKN2A
p.D84N
0.5634
71
Missense_Mutation
Likely Oncogenic
Loss-of-function
v3.14
DIS3
p.I678Ffs*59
0.2958
213
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
EPHA3
p.E647Rfs*9
0.5946
148
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
ESCO2
p.T254Nfs*27
0.4612
206
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
FOXL2
p.K193Sfs*78
0.4490
196
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
INPPL1
p.R1156Gfs*46
0.5045
111
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
JARID2
p.A396Rfs*18
0.5022
231
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
KMT2A
p.K3828Rfs*31
0.4815
270
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
KMT2D
p.R5340*
0.5800
100
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
MGA
p.D2578Tfs*10
0.5202
321
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
MSH2
p.A230Lfs*16
0.5038
260
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
MSH3
p.K383Rfs*32
0.5281
89
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
PIK3CA
p.C420R
0.4815
189
Missense_Mutation
Oncogenic
Gain-of-function
v3.14
RB1
p.R320*
0.8108
111
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v3.14
RB1
p.R418Kfs*10
0.2917
144
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
RIT1
p.A57D
0.2023
687
Missense_Mutation
Likely Oncogenic
Likely Gain-of-function
v3.14
RNF43
p.P660Vfs*41
1.0000
192
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v3.14
TET1
p.N486Ifs*6
0.4595
222
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v3.14
Export
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