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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
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Sample
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Patient ID
147771
Open Patient
Specimen ID
066-R1
Open Specimen
Sample ID
NNAV81
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
80%
%
20%
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:
2.0.2.21.0
RNASeq Transcripts per Million (TPM; *.RSEM.genes.results and *.RSEM.isoforms.results tab-delimited text file)
Download RSEM (genes)
Download RSEM (isoforms)
Ver:
2.0.2.21.0
OncoKB Gene Panel
View
Hugo
Symbol
HGVS Protein
Change
Variant Allele
Frequency
Total
Reads
Variant
Class
Oncogenicity
Predicted
Functional Effect
OncoKB
Version
ARID1A
p.Q2210*
0.5189
264
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.6
ASXL1
p.G645Vfs*58
1.0000
141
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ATR
p.I774Nfs*3
0.3390
59
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
ATRX
p.T1582Qfs*24
1.0000
105
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ATXN2
p.Q183Hfs*23
0.5573
192
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ATXN2
p.Q175Afs*66
0.5000
190
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
BAP1
p.E198Rfs*33
0.5323
201
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
BARD1
p.K209Efs*5
0.4000
100
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
BCL10
p.S167Lfs*6
0.4521
73
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
BLM
p.N515Mfs*16
0.5030
167
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
BRCA2
p.T3033Lfs*29
0.4022
92
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
CASP8
p.G293Dfs*4
0.5190
158
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
CASP8
p.K532Nfs*73
0.5158
221
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
CTNNB1
p.S45P
1.0000
118
Missense_Mutation
Likely Oncogenic
Gain-of-function
v4.6
CUX1
p.I1092Sfs*39
0.5425
247
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
DNMT3A
p.G413Afs*238
0.4489
274
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
DNMT3A
p.R181H
0.5369
149
Missense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.6
ECT2L
p.G388Vfs*25
0.4588
85
Frame_Shift_Del
Inconclusive
Inconclusive
v4.6
EGR1
p.H334Tfs*198
0.4418
661
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
FANCD2
p.D466*
0.2782
133
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
FLCN
p.H429Pfs*27
0.5055
91
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
FOXO1
p.G577Afs*5
0.3226
186
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
HNF1A
p.P291Qfs*51
0.3422
488
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2A
p.P2609Tfs*8
0.5597
159
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2B
p.G1879Vfs*16
0.5202
173
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2C
p.K2797Rfs*26
0.9648
142
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2C
p.P1948Lfs*26
0.4648
213
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2D
p.S102Afs*28
0.3312
471
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
KMT2D
p.H77Qfs*53
0.3295
440
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
MGA
p.R866*
0.5366
328
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.6
MLH1
p.E668Kfs*115
1.0000
132
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
MSH3
p.K383Rfs*32
0.4730
74
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
NRAS
p.G12C
0.4189
148
Missense_Mutation
Likely Oncogenic
Likely Gain-of-function
v4.6
PTCH1
p.S1203Afs*52
0.4741
135
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
RAD50
p.K722Gfs*5
0.4268
157
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
RNF43
p.G659Vfs*41
0.5269
93
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
SETD2
p.R1407Gfs*5
0.5036
139
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
SMARCA4
p.X813_splice
0.5970
335
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v4.6
SOX17
p.P328Rfs*59
0.4777
672
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
SOX9
p.V306Cfs*77
0.4393
280
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
TCF7L2
p.K468Sfs*23
0.4970
167
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
TP53
p.Q167*
0.4884
172
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.6
TP53BP1
p.E716Rfs*9
0.4941
427
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
AJUBA
p.R121Afs*121
0.4412
68
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ALDH2
p.K289Efs*45
0.2500
120
Frame_Shift_Ins
Likely Oncogenic
Likely Loss-of-function
v4.6
RNASEH2B
p.K170Rfs*9
0.4091
44
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ZFP36L2
p.P271Rfs*190
0.5652
92
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
ZFP36L2
p.G144Afs*43
0.4295
149
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
CPN1
p.E314Kfs*4
0.5060
166
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.6
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