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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
447624
Open Patient
Specimen ID
303-R
Open Specimen
Sample ID
CACT50U96
Disease Body Location
Digestive/Gastrointestinal
OncoTree Code
ANSC
CTEP SDC Code
10041840 - Squamous cell carcinoma - anus
PDM Type
PDX
Tissue Type
Resection
Patient/Originating
Specimen
Yes
No
Passage of this Sample
2
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
60%
10%
30%
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
ATXN2
p.Q180Hfs*26
0.3000
60
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.7
ATXN2
p.Q177Afs*69
0.2812
64
Frame_Shift_Del
Likely Oncogenic
Likely Loss-of-function
v4.7
KMT2D
p.E847*
0.4535
172
Nonsense_Mutation
Likely Oncogenic
Likely Loss-of-function
v4.7
LATS2
p.P477_A480dup
1.0000
8
In_Frame_Ins
Likely Oncogenic
Unknown
v4.7
PTEN
p.G127E
1.0000
106
Missense_Mutation
Oncogenic
Loss-of-function
v4.7
RB1
p.X830_splice
1.0000
12
Splice_Site
Likely Oncogenic
Likely Loss-of-function
v4.7
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