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Input File for Sample Metadata Manifest

The input file for a sample metadata manifest requires the following columns:

Sample ID—A unique ID for the analysis result, up to 100 characters.
Result Path—A unique, system-generated ID for the analysis result.
Subject ID—A unique ID for the sample donor, up to 100 characters.
Sample Class—Determines a germline or tumor analysis. Acceptable values are germline, tumor, tumor-only, and tumor-normal (values are not case-sensitive).

NOTE

Tumor sample class values appear as Tumor-only in the Registry table.

The following additional columns are optional input:

Column

Description

Project ID

The unique ID for the project, up to 100 characters.

Mother ID

The unique ID for the mother of the subject, up to 100 characters.

Father ID

The unique ID for the father of the subject, up to 100 characters.

Sex

The biological sex of the subject, male or female (case-insensitive). Alternatively, 1 for male or 2 for female.

This column is recommended. The software requires an assigned sex to view the Variants table.

Affection Status

Indicates whether the disease affects the subject. The case-insensitive values of affected and unaffected are acceptable.

Alternatively, use the PED format:

0 or -9 for unknown.
1 for unaffected
2 for affected.

Indication

The indication for the presence of disease, up to 150 characters. Data in this column are imported as phenotypes with an ontology source of Other.

Matched normal Sample ID

A sample ID for the matched normal sample for a tumor sample. A matched normal sample is unaffected tissue from a subject who has a tumor.

Sample Type

The primary sample type. The following acceptable values are case-insensitive:

FFPE
Fresh/Frozen
Cytology
Blood
Bone Marrow
Non-blood control
DNA
Other

Phenotype

The phenotypes associated with the sample. Enter the HPO or SNOMED-CT codes for each phenotypes, separated by a comma.

Tumor Type

The type of tumor associated with the sample. Enter the SNOMED code for the tumor type.

Primary or Metastasis*

The tumor site, primary or metastasis (case-insensitive).

Sample harvest site*

The location of tumor sample extraction, up to 200 characters.

Pathologist Tumor Purity Assessment*

The purity of the tumor sample, on a scale of 01, based on the evaluation of the pathologist. Up to two decimal places are allowed.

Assembly

The associated reference genome build. The values hg19, GRCH37, or GRCH38 are acceptable.

Comments

General notes about the analysis result, up to 500 characters.

*Applies to tumor only.