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Alterlab Cosmic

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alterlab-cosmic

Access the COSMIC catalogue of somatic mutations in cancer to query somatic mutations, the Cancer Gene Census, mutational signatures, and gene fusions (authentication required). Use when curating known cancer driver genes, looking up recurrent somatic mutations in a gene, or interpreting mutational signatures for cancer research and precision oncology. Not for germline pathogenicity calls (use alterlab-clinvar) or interactive cohort visualization like OncoPrints and survival from study data (use alterlab-cbioportal). Part of the AlterLab Academic Skills suite.

Overview

PublisherAlterLab-IEU
RepositoryAlterLab-Academic-Skills
Skill namealterlab-cosmic
Stars
84
Forks
16
Bundled files
3
LicenseMIT
Links
  • Markdown instructions

    A SKILL.md file the model loads on demand, so it only costs tokens when a request actually matches.

  • Works with any LLM

    AI skills are plain Markdown, not provider-specific code, so this works with GPT, Claude, Gemini, Grok, or a local model.

  • 3 bundled files

    Scripts, templates, and references the model can read while it works. Files are read-only and never executed.

  • Open source

    Published by AlterLab-IEU on GitHub. Read the source before you install it.

Installation

Install the Alterlab Cosmic AI skill in TypingMind to use it with any LLM, or drop it into another agent that reads SKILL.md.

1

Install in TypingMind

TypingMind installs a skill straight from its GitHub folder — it reads SKILL.md, bundles the resource files, and stores the result locally.

  1. Open the app and go to Plugins → Skills.
  2. Choose "Install from GitHub".
  3. Paste the skill folder URL below and confirm.
    https://github.com/AlterLab-IEU/AlterLab-Academic-Skills/tree/main/skills/databases/alterlab-cosmic
  4. Enable the skill in any chat where you want it available.
Plugins → Skills → Add skill → From GitHub URL, then paste the folder URL and press Continue.
2

Install in another agent

Any agent that reads the Agent Skills format can use this skill — copy the folder into that agent's skills directory.

Claude Code — .claude/skills
git clone --depth 1 https://github.com/AlterLab-IEU/AlterLab-Academic-Skills.git /tmp/AlterLab-Academic-Skills
mkdir -p .claude/skills
cp -r /tmp/AlterLab-Academic-Skills/skills/databases/alterlab-cosmic .claude/skills/alterlab-cosmic
Restart Claude Code after copying so it picks up the new skill.

Use it in TypingMind

Enable Alterlab Cosmic in any TypingMind chat and the model takes it from there. Its name and description sit in the system prompt, and the moment a request matches, the model loads the full instructions itself — you never invoke it by hand, and it costs no tokens until it is actually used.

The model loads Alterlab Cosmic on its own as soon as a request matches it.

Works with any AI model

AI skills are plain Markdown instructions rather than provider-specific code, so Alterlab Cosmic is not tied to the model it was written for. Install it once in TypingMind and use it with GPT-5, Claude, Gemini, Grok, DeepSeek, Mistral, Llama, or a local model you run yourself — all on your own API keys.

  • Loaded only when it is needed

    The system prompt carries just the name and description. The instructions are fetched on the first matching request, so an idle skill costs nothing.

  • Switch models mid-chat

    Because the skill is instructions rather than code, changing model does not break it — the next model reads the same SKILL.md.

Skill instructions

This is the SKILL.md content the model loads. Read it before installing — a skill is instructions your model will follow.

COSMIC Database

Overview

COSMIC (Catalogue of Somatic Mutations in Cancer) is the world's largest and most comprehensive database for exploring somatic mutations in human cancer. Access COSMIC's extensive collection of cancer genomics data, including millions of mutations across thousands of cancer types, curated gene lists, mutational signatures, and clinical annotations programmatically.

When to Use This Skill

This skill should be used when:

  • Downloading cancer mutation data from COSMIC
  • Accessing the Cancer Gene Census for curated cancer gene lists
  • Retrieving mutational signature profiles
  • Querying structural variants, copy number alterations, or gene fusions
  • Analyzing drug resistance mutations
  • Working with cancer cell line genomics data
  • Integrating cancer mutation data into bioinformatics pipelines
  • Researching specific genes or mutations in cancer contexts

Does NOT Trigger

ScenarioUse Instead
Germline variant pathogenicity (ACMG/AMP, ClinVar stars)alterlab-clinvar
Mutation frequency / OncoPrint / survival in TCGA or MSK cohorts via a keyless APIalterlab-cbioportal
CRISPR/RNAi gene dependency in cancer cell linesalterlab-depmap
Population allele frequencies in non-cancer cohortsalterlab-gnomad

Prerequisites

Account Registration

COSMIC requires authentication for data downloads:

Python Requirements

bash
uv pip install requests pandas
# pysam is only needed if you read the VCF-format downloads
uv pip install pysam

Quick Start

COSMIC's current download service delivers each product as a .tar archive (the gzipped TSV or VCF plus a README describing every column) at an explicit release path, e.g. grch38/cosmic/v104/Cosmic_GenomeScreensMutant_Tsv_v104_GRCh38.tar. Scripted downloads are a two-step call: GET https://cancer.sanger.ac.uk/api/mono/products/v1/downloads/scripted?path=<archive path>&bucket=downloads with HTTP Basic auth (email:password) returns JSON with a signed url, which you then fetch without auth. The legacy /cosmic/file_download/... endpoint and legacy names such as CosmicMutantExport.tsv.gz or cancer_gene_census.csv no longer work for scripts — the old endpoint now redirects to the login page.

1. Basic File Download

Use the scripts/download_cosmic.py script to download COSMIC data files:

python
from scripts.download_cosmic import download_cosmic_file, get_common_file_path

# Cancer Gene Census, current release (v104), GRCh38
download_cosmic_file(
    email="your_email@institution.edu",
    password="your_password",
    filepath=get_common_file_path("gene_census"),
    # = "grch38/cosmic/v104/Cosmic_CancerGeneCensus_Tsv_v104_GRCh38.tar"
)

2. Command-Line Usage

bash
# Download using shorthand data type (prompts for the password)
python scripts/download_cosmic.py user@email.com --data-type mutations

# Download a specific archive path
python scripts/download_cosmic.py user@email.com \
    --filepath grch38/cosmic/v104/Cosmic_CancerGeneCensus_Tsv_v104_GRCh38.tar

# GRCh37 and/or a pinned release
python scripts/download_cosmic.py user@email.com \
    --data-type gene_census --assembly GRCh37 --version v103

If the scripted endpoint changes, copy the command shown under Scripted download for any file on https://cancer.sanger.ac.uk/cosmic/download/cosmic and set COSMIC_SCRIPTED_URL.

3. Working with Downloaded Data

bash
tar -xf Cosmic_CancerGeneCensus_Tsv_v104_GRCh38.tar   # -> gzipped TSV + README
python
import glob
import pandas as pd

# Column names differ from the legacy exports — check the README in each archive.
gene_census = pd.read_csv(glob.glob("Cosmic_CancerGeneCensus*GRCh38*.tsv.gz")[0], sep="\t")
print(gene_census.columns.tolist())

# VCF products (e.g. VCF/Cosmic_GenomeScreensMutant_Vcf_...) extract to .vcf.gz files
import pysam
vcf = pysam.VariantFile(glob.glob("Cosmic_GenomeScreensMutant*_GRCh38.vcf.gz")[0])

Available Data Types

Every data type downloads through the same download_cosmic_file(...) call shown in Quick Start — only the filepath changes. Use the --data-type shortcut (CLI) or get_common_file_path(...) (Python) to build the path, or pass the filepath directly. See references/cosmic_data_reference.md for full field descriptions.

Data typeShortcutArchive (grch38/cosmic/v104/…, verified 2026-09)
Coding mutations, genome-wide screens (WGS/WES)mutationsCosmic_GenomeScreensMutant_Tsv_v104_GRCh38.tar
Coding mutations, targeted screenstargeted_mutationsCosmic_CompleteTargetedScreensMutant_Tsv_v104_GRCh38.tar
Coding mutations (VCF)mutations_vcfVCF/Cosmic_GenomeScreensMutant_Vcf_v104_GRCh38.tar
Non-coding variants (VCF)non_coding_vcfVCF/Cosmic_NonCodingVariants_Vcf_v104_GRCh38.tar
Mutations in CGC genesmutation_censusCosmic_MutantCensus_Tsv_v104_GRCh38.tar
Cancer Gene Censusgene_censusCosmic_CancerGeneCensus_Tsv_v104_GRCh38.tar
Resistance mutationsresistance_mutationsCosmic_ResistanceMutations_Tsv_v104_GRCh38.tar
Structural variants / breakpointsstructural_variants / breakpointsCosmic_StructuralVariants_Tsv_… / Cosmic_Breakpoints_Tsv_…
Gene fusionsfusion_genesCosmic_Fusion_Tsv_v104_GRCh38.tar
Copy numbercopy_numberCosmic_CompleteCNA_Tsv_v104_GRCh38.tar
Gene expressiongene_expressionCosmic_CompleteGeneExpression_Tsv_v104_GRCh38.tar
Samples / tumour classificationsample_info / classificationCosmic_Sample_Tsv_… / Cosmic_Classification_Tsv_…
Mutational signaturessignaturesseparate site — https://cancer.sanger.ac.uk/signatures/downloads/

Notes:

  • Cancer Gene Census is the expert-curated list of cancer genes; its role-in-cancer field splits oncogenes from tumor suppressors (TSG), and Tier 1/2 grades the evidence.
  • The old single "all coding mutations" export is now split into genome-wide and targeted-screen files; combine both for full coverage.
  • Mutational signatures (SBS, DBS, ID, CN, SV; current reference set v3.6, May 2026) are downloaded from the signatures site, not through the product archives.
  • Each product page lists sha256/md5 checksums — verify large downloads.

Working with COSMIC Data

Genome Assemblies

COSMIC provides data for two reference genomes:

  • GRCh38 (recommended, current standard)
  • GRCh37 (legacy, for older pipelines)

Specify the assembly in file paths (lower-case directory, upper-case suffix):

python
# GRCh38 (recommended)
filepath = "grch38/cosmic/v104/Cosmic_GenomeScreensMutant_Tsv_v104_GRCh38.tar"

# GRCh37 (legacy)
filepath = "grch37/cosmic/v104/Cosmic_GenomeScreensMutant_Tsv_v104_GRCh37.tar"

Versioning

  • Archive paths carry an explicit release (v104 = May 2026); the download service lists only versioned paths, so pin one — get_common_file_path() defaults to the current release
  • COSMIC ships two releases a year (May and November: v101 2024-11, v102 2025-05, v103 2025-11, v104 2026-05); check the release notes before assuming
  • For reproducible research, pin the release and record it alongside your results

File Formats

  • TSV/CSV: Tab/comma-separated, gzip compressed, read with pandas
  • VCF: Standard variant format, use with pysam, bcftools, or GATK
  • All files include headers describing column contents

Common Analysis Patterns

Current files use upper-case column names (e.g. GENE_SYMBOL, SAMPLE_NAME), while tumour site/histology live in the sample/classification tables linked by COSMIC IDs. Confirm exact names in each archive's README before filtering. For a one-off slice (one gene, primary site, or sample) the web Filtered download option avoids pulling the multi-GB files at all.

Filter mutations by gene:

python
import glob
import pandas as pd

# Extracted from Cosmic_GenomeScreensMutant_Tsv_v104_GRCh38.tar (multi-GB)
tsv = glob.glob('Cosmic_GenomeScreensMutant*GRCh38*.tsv.gz')[0]
mutations = pd.read_csv(tsv, sep='\t', low_memory=False)
tp53_mutations = mutations[mutations['GENE_SYMBOL'] == 'TP53']

Identify cancer genes by role (normalize headers, then look up the role column):

python
cgc = pd.read_csv(glob.glob('Cosmic_CancerGeneCensus*GRCh38*.tsv.gz')[0], sep='\t')
cgc.columns = cgc.columns.str.upper().str.replace(' ', '_')
role = cgc['ROLE_IN_CANCER'].fillna('')
oncogenes = cgc[role.str.contains('oncogene')]
tumor_suppressors = cgc[role.str.contains('TSG')]

Work with VCF files (GRCh38 coordinates, bgzip + tabix index required for fetch):

python
import pysam

vcf = pysam.VariantFile(glob.glob('Cosmic_GenomeScreensMutant*GRCh38*.vcf.gz')[0])
for record in vcf.fetch('17', 7668400, 7687500):  # TP53 locus, GRCh38
    print(record.id, record.ref, record.alts, record.info)

Data Reference

For comprehensive information about COSMIC data structure, available files, and field descriptions, see references/cosmic_data_reference.md. This reference includes:

  • Complete list of available data types and files
  • Detailed field descriptions for each file type
  • File format specifications
  • Common file paths and naming conventions
  • Data update schedule and versioning
  • Citation information

Use this reference when:

  • Exploring what data is available in COSMIC
  • Understanding specific field meanings
  • Determining the correct file path for a data type
  • Planning analysis workflows with COSMIC data

Helper Functions

The download script includes helper functions for common operations:

Get Common File Paths

python
from scripts.download_cosmic import get_common_file_path

# Get path for mutations file
path = get_common_file_path('mutations', genome_assembly='GRCh38')
# Returns: 'grch38/cosmic/v104/Cosmic_GenomeScreensMutant_Tsv_v104_GRCh38.tar'

# Get path for gene census, pinned to an older release
path = get_common_file_path('gene_census', version='v103')
# Returns: 'grch38/cosmic/v103/Cosmic_CancerGeneCensus_Tsv_v103_GRCh38.tar'

The accepted data_type shortcuts are the ones in the Available Data Types table above (signatures returns None — use the signatures download site).

Troubleshooting

Authentication Errors

  • Verify email and password are correct
  • Ensure account is registered at cancer.sanger.ac.uk/cosmic
  • Check if commercial license is required for your use case

File Not Found / HTTP 400

  • Verify the archive path against the download page (release, product name, assembly)
  • Check that the requested release exists (v101–v104 are listed as of 2026-09)
  • Legacy names (CosmicMutantExport.tsv.gz, cancer_gene_census.csv) and GRCh38/cosmic/latest/... paths from older tutorials are not in the current service
  • Confirm genome assembly (GRCh37 vs GRCh38) is correct

Large File Downloads

  • COSMIC files can be several GB in size
  • Ensure sufficient disk space
  • Download may take several minutes depending on connection
  • The script shows download progress for large files

Commercial Use

  • Commercial R&D, commercial products/services, and patient services or clinical reporting require a COSMIC commercial licence: https://www.cosmickb.org/licensing
  • Academic (not-for-profit) access is free but requires registration

Integration with Other Tools

COSMIC data integrates well with:

  • Variant annotation: VEP, ANNOVAR, SnpEff
  • Signature analysis: SigProfiler, deconstructSigs, MuSiCa
  • Cancer genomics: cBioPortal, OncoKB, CIViC
  • Bioinformatics: Bioconductor, TCGA analysis tools
  • Data science: pandas, scikit-learn, PyTorch

Additional Resources

Citation

When using COSMIC data, cite the current database paper: Sondka Z, Dhir NB, Carvalho-Silva D, et al. COSMIC: a curated database of somatic variants and clinical data for cancer. Nucleic Acids Research. 2024;52(D1):D1210-D1217. doi:10.1093/nar/gkad986

Bundled files

The model reads these on demand while the skill is loaded. They are exposed as readable files and are never executed.

Frequently asked questions

What does the Alterlab Cosmic AI skill do?

Access the COSMIC catalogue of somatic mutations in cancer to query somatic mutations, the Cancer Gene Census, mutational signatures, and gene fusions (authentication required). Use when curating known cancer driver genes, looking up recurrent somatic mutations in a gene, or interpreting mutational signatures for cancer research and precision oncology. Not for germline pathogenicity calls (use alterlab-clinvar) or interactive cohort visualization like OncoPrints and survival from study data (use alterlab-cbioportal). Part of the AlterLab Academic Skills suite.

Why use Alterlab Cosmic on TypingMind?

Because you install it once and use it with any model. Alterlab Cosmic is plain Markdown rather than provider-specific code, so the same skill runs on GPT-5, Claude, Gemini, Grok, or a local model — and you can switch model mid-chat without it breaking. TypingMind runs on your own API keys, so you pay providers directly instead of a per-seat subscription, and your skills and chats stay in your own storage.

How do I install Alterlab Cosmic in TypingMind?

Open Plugins → Skills → Install from GitHub in TypingMind and paste https://github.com/AlterLab-IEU/AlterLab-Academic-Skills/tree/main/skills/databases/alterlab-cosmic. TypingMind reads its SKILL.md and bundles its files and installs it as a skill you can enable per chat.

Which AI models can use Alterlab Cosmic?

Any model you connect in TypingMind. AI skills are plain Markdown instructions rather than provider-specific code, so GPT, Claude, Gemini, Grok, and local models can all load this skill when a request matches it.

How many AI models can I use with Alterlab Cosmic?

As many as you like. As long as a model supports skills, you can use Alterlab Cosmic with it — GPT, Claude, Gemini, Grok, DeepSeek, Mistral, Llama and more — all on TypingMind with your own API keys.

Is the Alterlab Cosmic AI skill free?

Yes. It is published on GitHub by AlterLab-IEU under the MIT license. You only pay your own AI provider for the tokens you use.

What are AI skills?

An AI skill is a reusable instruction bundle that teaches an AI model how to do one specific task. It follows the open Agent Skills format: a SKILL.md file with a name and description, plus any scripts, templates or reference files the model may need. The model reads the instructions only when your request matches the skill, so an installed skill costs nothing until it is used.

How are AI skills different from plugins or MCP servers?

A plugin or MCP server gives a model new tools to call — code that runs somewhere and returns a result. An AI skill gives the model knowledge and process instead: how to approach a task, which steps to follow, what good output looks like. Skills are plain Markdown, so they need no server, no API key and no runtime, and they work with any model.

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