avoigt1121 Claude Fable 5 commited on
Commit
7ae3398
·
1 Parent(s): 35c0da0

feat(panel): widen 19 → 29 genes (HR + MMR), and stop silently dropping uncurated genes

Browse files

Adds HR-beyond-BRCA (RAD51C, RAD51D, BRIP1, BARD1, CHEK2, FANCC — PARP-inhibitor
eligibility) and MMR (MLH1, MSH2, MSH6, PMS2 — MSI-high / pembrolizumab). Both tiers
are answerable from mutation+CNV alone. All seven curated artifacts re-curated.

The fusion-driven actionable genes (NRG1, NTRK1/2/3, ALK, ROS1, RET) are deliberately
NOT added: in PDAC they are structural-variant events, so a mutation+CNV status matrix
would report ~0% for exactly the alterations that matter. They stay off until a
structural-variant modality exists (new TODO item).

Widening exposed a bug worth more than the widening. Every artifact bakes in the
panel_genes it was curated against, and query_variant_status filtered requested genes
down to what the artifact carried — so a panel gene absent from a not-yet-re-curated
artifact vanished from the payload with no note, which a caller reads as "we looked and
found nothing". Such a gene now returns {curated: False, note} and is named in
uncurated_genes, kept distinct from assayed: False because the remedies differ
(re-curate vs. this cohort cannot answer at all).

Licence decisions taken this session:
- pdac_msk_2024 ND resolved — the CC BY-NC-ND licence governs the article, not the
separately-deposited cohort. NC untouched; verdict stays restricted.
- paad_qcmg_uq_2016 upgraded no_restriction_found → permitted (ICGC open tier), with
E.4's commercial obligations pinned by a test. Granting clause still uncited.

Frequencies sanity-checked: new genes 0–2% (MSI-H PDAC ~1%), KRAS unchanged at 90.7%
TCGA / 93.7% MSK. 179 tests pass (was 176).

Co-Authored-By: Claude Fable 5 <noreply@anthropic.com>

TODO.md CHANGED
@@ -98,9 +98,21 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
98
  - [x] **Denial diagnosis added** ✅ (2026-07-28) — machine denials now carry
99
  `machine_auth: no_token_header | token_unresolved | not_allowlisted` with a message
100
  naming the side that must act (never "sign in" to a machine). 4 regression tests.
101
- - [ ] Open design question, unchanged: should the gate depend on an outbound `whoami` per
102
- request at all (vs a shared secret)? Same request-path-coupling class as ADR-0005 C4.
103
- Not urgent it works; it is a latency/failure-mode question.
 
 
 
 
 
 
 
 
 
 
 
 
104
  - [x] **Confirm cBioPortal ToS for automated use; public instance vs self-host** ✅ (2026-07-24) →
105
  `docs/cbioportal-terms-and-deployability.md` + **ADR-0005**. Verdict: usable with conditions,
106
  no ToS bar on automated access, **public instance + curate-and-cache, no self-host**.
@@ -194,13 +206,41 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
194
  denominator; all six re-curated. 15 new tests, incl. a literature check pinning KRAS at
195
  ~90% in every tumour cohort — the test that would have caught this.
196
 
197
- - [ ] **Resolve the ND term on `pdac_msk_2024`**its article is CC BY-NC-ND 4.0 while the
198
- authors deposited the cohort as publicly downloadable. NC is settled (non-commercial only,
199
- recorded). **ND is not:** this repo commits a *derived* status matrix, arguably an
200
- adaptation, and redistributes it. Fine for non-profit research; ask the authors before
201
- anything wider. See `licenses.COMMERCIAL_USE_REVIEW["pdac_msk_2024"]`.
202
- - [ ] Mouse (KPC) / in-vitro variant path — behind the species-boundary ADR.
203
- - [ ] Widen the gene panel from config as needed.
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
204
 
205
  ## Pre-deploy gates (from the founding design §10 — carry these, don't lose them)
206
 
@@ -220,9 +260,16 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
220
  Discharged by `src/resources/curated/CCLE_BROAD_TERMS.md`. Also a clarification in our
221
  favour: the terms expressly permit ML/AI use of the data for internal or non-profit
222
  research — which is this agent's use.
223
- - [ ] Establish whether ICGC *affirmatively permits* commercial use of the open tier
224
- (`paad_qcmg_uq_2016` is recorded as "no_restriction_found", deliberately not
225
- "permitted" absence of a prohibition is not a grant).
 
 
 
 
 
 
 
226
 
227
  - [x] **Per-sample variant *status* IS the near-term need** ✅ 2026-07-28 — **confirmed by Anne**
228
  ("yes, per sample is the next near term"). This was the "should it exist at all" gate: the
@@ -271,8 +318,12 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
271
  `Trp53 R172H` ≡ human `R175H` would score as generic missense, not hotspot; CNV has no
272
  cross-species mapping) and points at the mouse **expression** path in
273
  `pdac-subtype-agent` + this spike. The refusal itself is unchanged and still STANDS.
274
- - [ ] *(needs Carl, do not build first)* Put `compare_model_genotype_to_human_cohort` to Carl —
275
- declared genotype in, human cohort frequency out; no mouse data path. Spike §6.
 
 
 
 
276
 
277
  ## Test-suite hermeticity ✅ (2026-07-28)
278
 
@@ -298,9 +349,13 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
298
  - [ ] **Watch on gradio upgrades:** the stub targets gradio's private
299
  `_get_mocked_oauth_info`. If a bump renames it, `test_hermetic.py`'s UI-import test fails —
300
  that failure is the signal, not a flake. Re-point the stub.
301
- - [ ] Optional: promote the stub-vs-restructure choice to an ADR if it proves contested.
302
- **Next free is 0008** `main` has 0006 (variant×subtype join) *and* 0007 (re-curation
303
- cadence) published. Claim in `RESERVED.md` on `main`, alone, first.
 
 
 
 
304
  - [x] ⚠️ **ADR-ledger near-miss (the fourth), resolved.** A working branch's
305
  `docs/adr/RESERVED.md` stopped at 0005 and said "next free 0006" while `main` had already
306
  burned 0006 *and* 0007. `main`'s ledger is correct — 0006 + 0007 published, **next free
@@ -321,8 +376,24 @@ the design doc's M0–M4 is the intent behind it — see that doc's §0).
321
  cohort, not the cross-Space case that would need a map. Interim rule is written down: exact
322
  sample-id string equality, report join coverage, no fuzzy/prefix matching, and a collapsed join is
323
  a refusal with the numbers shown. Resolving it amends ADR-0006 §2; it does not reopen the split.
 
 
 
 
 
 
324
  - Does the orchestrator cache a fetched subtype label per session, or re-call PurIST per join?
325
  (Belongs to `pdac-analysis-orchestrator`, not here.)
326
- - Should this agent ever route through `biodata-registry`, or stay a direct-source agent? The
327
- founding design assumed the former as a hard blocker; the build did the latter and is fine.
328
- Nothing is blocked but reopening it needs an ADR (`RESERVED.md`).
 
 
 
 
 
 
 
 
 
 
 
98
  - [x] **Denial diagnosis added** ✅ (2026-07-28) — machine denials now carry
99
  `machine_auth: no_token_header | token_unresolved | not_allowlisted` with a message
100
  naming the side that must act (never "sign in" to a machine). 4 regression tests.
101
+ - [x] ~~Should the gate depend on an outbound `whoami` per request at all (vs a shared
102
+ secret)?~~ **ANSWERED 2026-08-05 (Anne): keep the `whoami`.** A shared secret is ONE
103
+ credential shared by every caller, so every machine call would land in the audit trail
104
+ as the same undifferentiated principal. `access.principal_trace_fields` records
105
+ `{principal, role}` per run specifically so that field names a person; the outbound
106
+ `whoami` in `gradio_ui._resolve_machine_identity` is what buys that. Per-user
107
+ attribution is the requirement, so the coupling is paid for, not incidental — this is
108
+ NOT the same trade as ADR-0005 C4, where the coupling bought nothing the artifact
109
+ didn't already give us.
110
+ - [ ] **Narrowed successor: the resolution cache's TTL and its HF-outage behaviour.**
111
+ Resolution is already cached per token, so the question is no longer whether to call
112
+ `whoami` but how long a resolution stays good and what happens when HF is unreachable
113
+ mid-session — fail closed (deny, losing availability) or serve on a warm cache (keep
114
+ availability, risk a revoked token working for the TTL). Pick deliberately and write
115
+ the reason down; today it is whatever the cache happens to do.
116
  - [x] **Confirm cBioPortal ToS for automated use; public instance vs self-host** ✅ (2026-07-24) →
117
  `docs/cbioportal-terms-and-deployability.md` + **ADR-0005**. Verdict: usable with conditions,
118
  no ToS bar on automated access, **public instance + curate-and-cache, no self-host**.
 
206
  denominator; all six re-curated. 15 new tests, incl. a literature check pinning KRAS at
207
  ~90% in every tumour cohort — the test that would have caught this.
208
 
209
+ - [x] **ND term on `pdac_msk_2024` — RESOLVED 2026-08-05 (Anne).** The CC BY-NC-ND licence
210
+ attaches to the **article and its supplementary material**; the authors deposited this
211
+ *cohort* separately as publicly accessible and downloadable data. The deposition is the
212
+ instrument governing the data, so committing a derived status matrix is not an ND-restricted
213
+ adaptation. **NC is untouched and still binds** — commercial use remains barred, verdict
214
+ stays `restricted`. Recorded in `licenses.COMMERCIAL_USE_REVIEW["pdac_msk_2024"]` as a
215
+ reasoned consultant position, explicitly NOT an author grant; worth putting to the authors
216
+ before any commercial or licensing reliance. **This also unblocks making the GitHub mirror
217
+ public** — but `ccle_broad_2019`'s Broad terms are a separate restriction that has NOT
218
+ moved, so re-read that before flipping visibility.
219
+ - [x] ~~Mouse (KPC) / in-vitro variant path~~ **DECLINED 2026-08-05 (Anne)** — see the mouse/KPC
220
+ spike block above. The refusal stands; the species-boundary ADR stays unclaimed.
221
+ - [x] **Widen the gene panel** ✅ 2026-08-05 — **19 → 29 genes**, all seven artifacts re-curated.
222
+ Added: HR beyond BRCA (`RAD51C`, `RAD51D`, `BRIP1`, `BARD1`, `CHEK2`, `FANCC` — PARP-inhibitor
223
+ eligibility) and MMR (`MLH1`, `MSH2`, `MSH6`, `PMS2` — MSI-high / pembrolizumab). Both tiers
224
+ are answerable from mutation+CNV alone. **The fusion-driven actionable genes (`NRG1`,
225
+ `NTRK1/2/3`, `ALK`, `ROS1`, `RET`) were deliberately NOT added**: in PDAC they are driven by
226
+ structural variants, so a mutation+CNV status matrix would report ~0% for precisely the
227
+ alterations that matter — a confident false negative on the most clinically actionable
228
+ question we could be asked. Adding them needs a structural-variant modality first (backlog
229
+ below). New-gene frequencies are literature-plausible (0–2%; MSI-H PDAC is ~1%) and KRAS is
230
+ unchanged at 90.7% TCGA / 93.7% MSK, so nothing regressed.
231
+ - [x] **Fixed a silent-drop bug the widening exposed** — `query_variant_status` filtered
232
+ requested genes down to what the artifact carried, so a panel gene absent from a
233
+ not-yet-re-curated artifact vanished from the payload with no note. A caller reads a
234
+ short `genes` map as "we looked and found nothing" — the same confident false negative
235
+ `assayed: False` exists to prevent, through a different door. Such a gene now returns
236
+ `{curated: False, note: ...}` and is named in `uncurated_genes`, kept **distinct** from
237
+ `assayed: False` because the remedies differ (re-curate vs. this cohort cannot answer).
238
+ Two tests: the gap is stated, and every committed artifact carries the *current* panel.
239
+ - [ ] **Structural-variant (fusion) modality** — the gate on adding `NRG1`, `NTRK1/2/3`, `ALK`,
240
+ `ROS1`, `RET`, the KRAS-wild-type actionable set. cBioPortal exposes structural-variant data,
241
+ so this is a third modality alongside mutation/CNV: curation, a status vocabulary, its own
242
+ per-study coverage gate (a cohort with no SV profile must refuse, exactly as CNV does), and a
243
+ schema bump. Until then those genes stay OFF the panel rather than on it reporting 0%.
244
 
245
  ## Pre-deploy gates (from the founding design §10 — carry these, don't lose them)
246
 
 
260
  Discharged by `src/resources/curated/CCLE_BROAD_TERMS.md`. Also a clarification in our
261
  favour: the terms expressly permit ML/AI use of the data for internal or non-profit
262
  research — which is this agent's use.
263
+ - [x] **ICGC open tier RESOLVED 2026-08-05 (Anne): affirmatively permitted.**
264
+ `paad_qcmg_uq_2016` upgraded `no_restriction_found` `permitted`, so
265
+ `commercial_use_permitted()` now returns True for it. **E.4 survives the upgrade and
266
+ still binds commercially** (no IP claims over primary somatic data; downstream
267
+ licensing must not obstruct further research) — a grant is not the absence of
268
+ obligations, and a test now pins that clause to the entry.
269
+ ⚠️ **One gap left open on purpose:** the specific granting clause was established
270
+ off-repo and is NOT cited in the entry. Cite it when to hand — a caller can now rely
271
+ on this verdict programmatically, so it should not rest on an uncited confirmation
272
+ indefinitely. Recorded in the entry's `confidence` field, not just here.
273
 
274
  - [x] **Per-sample variant *status* IS the near-term need** ✅ 2026-07-28 — **confirmed by Anne**
275
  ("yes, per sample is the next near term"). This was the "should it exist at all" gate: the
 
318
  `Trp53 R172H` ≡ human `R175H` would score as generic missense, not hotspot; CNV has no
319
  cross-species mapping) and points at the mouse **expression** path in
320
  `pdac-subtype-agent` + this spike. The refusal itself is unchanged and still STANDS.
321
+ - [x] ~~*(needs Carl, do not build first)* Put `compare_model_genotype_to_human_cohort` to
322
+ Carl — declared genotype in, human cohort frequency out; no mouse data path.
323
+ Spike §6.~~ **DECLINED 2026-08-05 (Anne) — we don't want this.** Not deferred, not
324
+ blocked on Carl: the follow-on is closed. The mouse refusal in `byod.py` stands as
325
+ the whole answer on the species boundary, and `RESERVED.md`'s species-boundary ADR
326
+ stays unclaimed. Reopening it needs a new item and a reason, not this one.
327
 
328
  ## Test-suite hermeticity ✅ (2026-07-28)
329
 
 
349
  - [ ] **Watch on gradio upgrades:** the stub targets gradio's private
350
  `_get_mocked_oauth_info`. If a bump renames it, `test_hermetic.py`'s UI-import test fails —
351
  that failure is the signal, not a flake. Re-point the stub.
352
+ - [x] ~~Optional: promote the stub-vs-restructure choice to an ADR if it proves contested.~~
353
+ **CLOSED 2026-08-05 �� not contested.** Nobody has argued that stubbing gradio's private
354
+ `_get_mocked_oauth_info` was the wrong call over restructuring `gradio_ui.py`, and an ADR
355
+ for an uncontested three-line test-only decision is ceremony. The real residual risk is the
356
+ gradio-upgrade watch item above, which stays open and carries it. Reopen only if someone
357
+ actually argues the other side. **Next free ADR is still 0008** (`main` has 0006 + 0007
358
+ published) — claim it in `RESERVED.md` on `main`, alone, first.
359
  - [x] ⚠️ **ADR-ledger near-miss (the fourth), resolved.** A working branch's
360
  `docs/adr/RESERVED.md` stopped at 0005 and said "next free 0006" while `main` had already
361
  burned 0006 *and* 0007. `main`'s ledger is correct — 0006 + 0007 published, **next free
 
376
  cohort, not the cross-Space case that would need a map. Interim rule is written down: exact
377
  sample-id string equality, report join coverage, no fuzzy/prefix matching, and a collapsed join is
378
  a refusal with the numbers shown. Resolving it amends ADR-0006 §2; it does not reopen the split.
379
+ **What would actually resolve it (2026-08-05):** run ONE real cross-Space join — a cohort this
380
+ agent curates from cBioPortal against the same cohort as `pdac-subtype-agent` sees it from
381
+ GEO/`biodata-registry` — and measure the coverage. If the ids diverge (e.g. `TCGA-IB-7651-01`
382
+ here vs `TCGA-IB-7651` there), the answer is a **declared, reviewed id-map artifact**, never
383
+ inference at join time. Until that one measurement exists there is nothing to decide; the
384
+ spike's 145/146 was *within* one cBioPortal cohort and does not test this case.
385
  - Does the orchestrator cache a fetched subtype label per session, or re-call PurIST per join?
386
  (Belongs to `pdac-analysis-orchestrator`, not here.)
387
+ - Should this agent ever route through `biodata-registry`, or stay a direct-source agent?
388
+ **REOPENED 2026-08-05 (Anne): yes, it can the registry's structure is worth reusing.**
389
+ The obstacle is concrete rather than philosophical: the registry does not currently model DNA.
390
+ `VALID_MODALITIES` is expression-only (bulk RNA-seq / microarray / single-cell / spatial), and
391
+ its core value-add — `data_level` → analysis path A/B/P, and `get_integration_plan`'s
392
+ cross-dataset compatibility engine — has no meaning for a mutation/CNV status matrix. What
393
+ transfers is the *pattern*, which this repo already reimplemented locally as
394
+ `src/resources/curated/*.json` + `licenses.COMMERCIAL_USE_REVIEW`: one artifact per cohort as
395
+ the single source of truth, controlled vocabularies, refusal encoded as data. So the proposal
396
+ is to **extend the registry with a variant modality** (e.g. `mutation_cnv` /
397
+ `data_level: called_variants`) and move cohort semantics there. That is a cross-repo change —
398
+ a new manifest kind, a registry version bump, and a re-pin in every consuming repo — so it
399
+ needs **ADR-0008** (claim from `main` first) and its own milestone, not a drive-by.
deploy/orchestrator_registration.yaml CHANGED
@@ -27,7 +27,7 @@ client: gradio_client # same dispatch contract as the sibling specialists
27
 
28
  # EVERY argument is a plain string — the endpoints reject a list with a typed
29
  # `machine_input: genes_not_a_string` error rather than coercing it. `genes` is
30
- # COMMA-SEPARATED ("KRAS,TP53"); blank means the whole 19-gene panel (`_split_genes`).
31
  # Each endpoint returns a JSON *string*.
32
  tools:
33
  - name: query_variant_status
@@ -36,6 +36,10 @@ tools:
36
  returns: >-
37
  Per-gene, per-modality {frequency, n_profiled, n_altered, assayed, per_sample} plus a
38
  top-level `samples_profiled: {mutation: [...], cnv: [...]}`. See `per_sample_contract`.
 
 
 
 
39
  - name: variant_by_subtype
40
  summary: >-
41
  Association of per-gene variant status with an EXISTING cohort subtype label
@@ -45,7 +49,8 @@ tools:
45
  # (defaults to "mutation").
46
  - name: panel
47
  summary: >-
48
- The v1 driver-gene panel (19 genes), so a consumer need not hardcode it.
 
49
  Returns {status, panel: [...], n_genes}.
50
  args: {}
51
 
 
27
 
28
  # EVERY argument is a plain string — the endpoints reject a list with a typed
29
  # `machine_input: genes_not_a_string` error rather than coercing it. `genes` is
30
+ # COMMA-SEPARATED ("KRAS,TP53"); blank means the whole 29-gene panel (`_split_genes`).
31
  # Each endpoint returns a JSON *string*.
32
  tools:
33
  - name: query_variant_status
 
36
  returns: >-
37
  Per-gene, per-modality {frequency, n_profiled, n_altered, assayed, per_sample} plus a
38
  top-level `samples_profiled: {mutation: [...], cnv: [...]}`. See `per_sample_contract`.
39
+ A gene may also come back as {assayed: false} (the cohort never sequenced it) or
40
+ {curated: false} (present in the cohort, absent from our snapshot — re-curation fixes
41
+ it). Both are NAMED, in `unassayed_genes` / `uncurated_genes`; neither is ever dropped
42
+ from the `genes` map, so a shorter map than requested is always a bug, never an answer.
43
  - name: variant_by_subtype
44
  summary: >-
45
  Association of per-gene variant status with an EXISTING cohort subtype label
 
49
  # (defaults to "mutation").
50
  - name: panel
51
  summary: >-
52
+ The driver-gene panel (29 genes as of 2026-08-05), so a consumer need not hardcode it.
53
+ Call it rather than pinning a count — the panel widens.
54
  Returns {status, panel: [...], n_genes}.
55
  args: {}
56
 
licenses.py CHANGED
@@ -150,11 +150,16 @@ COMMERCIAL_USE_REVIEW = {
150
  ),
151
  },
152
  "paad_qcmg_uq_2016": {
153
- "verdict": "no_restriction_found",
154
  "instrument": "ICGC/ICGC-ARGO E.8.1 Data Access Framework (open tier), E.3, E.4",
155
  "source": "https://www.icgc-argo.org/page/132/e8-data-access-and-data-use-policies-and-guidelines",
156
- "confidence": "medium — no prohibition on open-tier commercial use was found, but no "
157
- "affirmative grant was found either",
 
 
 
 
 
158
  "obligations": (
159
  "Cite the data source and acknowledge the clinical contributors and ICGC data "
160
  "producers (E.3). E.4 asks users not to claim IP over primary data including "
@@ -208,9 +213,8 @@ COMMERCIAL_USE_REVIEW = {
208
  "material, which is the publication this cohort was released with)",
209
  "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC11835752/",
210
  "confidence": "high for the NonCommercial term (article licence read directly, "
211
- "2026-07-28). The reach of the NoDerivatives term over a derived gene×sample STATUS "
212
- "matrix is UNTESTED and deliberately not asserted either way — see obligations",
213
- "reviewed": "2026-07-28",
214
  "obligations": (
215
  "NON-COMMERCIAL USE ONLY. Attribute Varghese et al., Nat Med 2025;31(2):466-477. "
216
  "Two instruments point in different directions and both are recorded rather than "
@@ -218,9 +222,14 @@ COMMERCIAL_USE_REVIEW = {
218
  "availability statement deposits this cohort in cBioPortal as 'publicly accessible "
219
  "and downloadable', where it is redistributed under generic ODbL boilerplate. The "
220
  "stricter (NC-ND) reading governs here, consistent with resolving to the upstream "
221
- "source. The ND clause is the open question: this agent commits a DERIVED status "
222
- "matrix, which is arguably an adaptation anyone redistributing that artifact "
223
- "beyond non-commercial research should resolve ND with the authors first. "
 
 
 
 
 
224
  "TARGETED PANEL: MSK-IMPACT does not sequence ELAVL1, GATA6 or ACVR1B, which the "
225
  "coverage gate reports as unassayed rather than 0%."
226
  ),
 
150
  ),
151
  },
152
  "paad_qcmg_uq_2016": {
153
+ "verdict": "permitted",
154
  "instrument": "ICGC/ICGC-ARGO E.8.1 Data Access Framework (open tier), E.3, E.4",
155
  "source": "https://www.icgc-argo.org/page/132/e8-data-access-and-data-use-policies-and-guidelines",
156
+ "confidence": "medium — upgraded from `no_restriction_found` on 2026-08-05, confirmed by "
157
+ "Anne Voigt: the ICGC open tier affirmatively grants use including commercial use, so "
158
+ "the earlier 'absence of a prohibition is not a grant' reading is superseded. OUTSTANDING: "
159
+ "the specific granting clause was established off-repo and is not cited here — cite it in "
160
+ "this entry when to hand, since `commercial_use_permitted()` now returns True for this "
161
+ "study and a caller may rely on it",
162
+ "reviewed": "2026-08-05",
163
  "obligations": (
164
  "Cite the data source and acknowledge the clinical contributors and ICGC data "
165
  "producers (E.3). E.4 asks users not to claim IP over primary data including "
 
213
  "material, which is the publication this cohort was released with)",
214
  "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC11835752/",
215
  "confidence": "high for the NonCommercial term (article licence read directly, "
216
+ "2026-07-28). The NoDerivatives question is RESOLVED as of 2026-08-05 see obligations",
217
+ "reviewed": "2026-08-05",
 
218
  "obligations": (
219
  "NON-COMMERCIAL USE ONLY. Attribute Varghese et al., Nat Med 2025;31(2):466-477. "
220
  "Two instruments point in different directions and both are recorded rather than "
 
222
  "availability statement deposits this cohort in cBioPortal as 'publicly accessible "
223
  "and downloadable', where it is redistributed under generic ODbL boilerplate. The "
224
  "stricter (NC-ND) reading governs here, consistent with resolving to the upstream "
225
+ "source. ND RESOLVED 2026-08-05 (Anne Voigt): the CC BY-NC-ND licence attaches to "
226
+ "the ARTICLE and its supplementary material, whereas this cohort was deposited "
227
+ "separately by the authors as publicly accessible and downloadable data. The "
228
+ "deposition, not the article licence, is the instrument governing the data, so "
229
+ "committing a derived status matrix is not restricted by ND. This is a reasoned "
230
+ "position taken by the consultant, NOT an author grant — if this artifact is ever "
231
+ "redistributed commercially the NC term still bars it, and the ND reading is worth "
232
+ "putting to the authors before relying on it in a commercial or licensing context. "
233
  "TARGETED PANEL: MSK-IMPACT does not sequence ELAVL1, GATA6 or ACVR1B, which the "
234
  "coverage gate reports as unassayed rather than 0%."
235
  ),
memory.md CHANGED
@@ -1460,3 +1460,97 @@ cross-species mapping at all. Points at the mouse **expression** path in `pdac-s
1460
  STANDS per that spike.
1461
 
1462
  176 tests pass (was 174) — two new, one per item.
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1460
  STANDS per that spike.
1461
 
1462
  176 tests pass (was 174) — two new, one per item.
1463
+
1464
+ ---
1465
+
1466
+ ## 2026-08-05 — six backlog decisions taken, and the panel widened 19 → 29
1467
+
1468
+ A backlog-triage session with Anne. Five open items closed by decision rather than by code, one
1469
+ reopened with a real shape, and the one remaining code item — the panel widening — built.
1470
+
1471
+ ### The decisions
1472
+
1473
+ **ND on `pdac_msk_2024` — RESOLVED, and it unblocks the mirror.** The CC BY-NC-ND licence attaches
1474
+ to the *article and its supplementary material*; the authors deposited this *cohort* separately as
1475
+ publicly accessible and downloadable data, so the deposition is the instrument governing the data
1476
+ and a derived status matrix is not an ND-restricted adaptation. **NC is untouched** — commercial use
1477
+ still barred, verdict stays `restricted`. Recorded as a reasoned consultant position, explicitly NOT
1478
+ an author grant. This removes one of the two blockers on making the GitHub mirror public;
1479
+ `ccle_broad_2019`'s Broad terms are the other and have **not** moved.
1480
+
1481
+ **ICGC open tier — `no_restriction_found` → `permitted`.** `commercial_use_permitted()` now returns
1482
+ True for `paad_qcmg_uq_2016`. E.4 survives the upgrade and still binds commercially (no IP claims
1483
+ over primary somatic data; downstream licensing must not obstruct further research) — a test pins
1484
+ that clause to the entry, because a grant is not the absence of obligations. ⚠️ The granting clause
1485
+ itself was established off-repo and is **uncited** in the entry; that gap is recorded in the entry's
1486
+ own `confidence` field, not only in `TODO.md`, since a caller can now rely on the verdict.
1487
+
1488
+ **`whoami` stays.** The open item asked whether the machine gate should drop its outbound `whoami`
1489
+ for a shared secret. It should not, and the reasoning inverts the item: a shared secret is one
1490
+ credential shared by all callers, so every machine call would audit as the same undifferentiated
1491
+ principal. `principal_trace_fields` records `{principal, role}` per run precisely so that field
1492
+ names a person. The coupling buys per-user attribution — unlike ADR-0005 C4's, which bought nothing
1493
+ the artifact didn't already give us. Successor item is narrower and real: the resolution cache's TTL
1494
+ and what happens on an HF outage mid-session (fail closed vs. serve on a warm cache).
1495
+
1496
+ **Mouse `compare_model_genotype_to_human_cohort` — DECLINED.** Not deferred, not blocked on Carl.
1497
+ The refusal in `byod.py` is the whole answer; the species-boundary ADR stays unclaimed.
1498
+
1499
+ **Stub-vs-restructure ADR — CLOSED, not contested.** An ADR for an uncontested three-line test-only
1500
+ decision is ceremony. The gradio-upgrade watch item carries the residual risk.
1501
+
1502
+ **`biodata-registry` — REOPENED, with the actual obstacle named.** Anne wants the registry's
1503
+ structure reused, and the objection was never philosophical: the registry **does not model DNA**.
1504
+ `VALID_MODALITIES` is expression-only, and its value-add (`data_level` → path A/B/P,
1505
+ `get_integration_plan`) has no meaning for a status matrix. What transfers is the *pattern*, which
1506
+ this repo already reimplemented locally as `curated/*.json` + `COMMERCIAL_USE_REVIEW`. The proposal
1507
+ is to extend the registry with a variant modality and move cohort semantics there — a cross-repo
1508
+ change (new manifest kind, version bump, re-pin everywhere) needing **ADR-0008** and its own
1509
+ milestone.
1510
+
1511
+ ### The panel: 19 → 29 genes, all seven artifacts re-curated
1512
+
1513
+ Added HR-beyond-BRCA (`RAD51C`, `RAD51D`, `BRIP1`, `BARD1`, `CHEK2`, `FANCC` — PARP-inhibitor
1514
+ eligibility) and MMR (`MLH1`, `MSH2`, `MSH6`, `PMS2` — MSI-high / pembrolizumab). Both tiers are
1515
+ answerable from mutation+CNV alone.
1516
+
1517
+ **The fusion-driven actionable genes were deliberately left off** — `NRG1`, `NTRK1/2/3`, `ALK`,
1518
+ `ROS1`, `RET`. In PDAC these are structural-variant events, so a mutation+CNV status matrix would
1519
+ report ~0% for exactly the alterations that matter, on the most clinically actionable question this
1520
+ agent could be asked. They stay off the panel until a structural-variant modality exists (now a
1521
+ backlog item with its own coverage-gate requirement).
1522
+
1523
+ New-gene frequencies are literature-plausible (0–2%; MSI-H PDAC is ~1%), and KRAS is unchanged at
1524
+ **90.7% TCGA / 93.7% MSK**, so the profiled-denominator work did not regress. MSK-IMPACT assays all
1525
+ ten new genes, so those MSK numbers are real rather than gated false negatives; its three unassayed
1526
+ genes are still `ELAVL1`/`GATA6`/`ACVR1B`.
1527
+
1528
+ ### The bug the widening exposed
1529
+
1530
+ **Widening the panel is not config-only** — every curated artifact bakes in the `panel_genes` it was
1531
+ curated against, and `query_variant_status` filtered requested genes down to what the artifact
1532
+ carried. A panel gene absent from a not-yet-re-curated artifact therefore **vanished from the
1533
+ payload with no note**, and a caller reads a short `genes` map as "we looked and found nothing".
1534
+ Same confident false negative the `assayed: False` gate exists to prevent, reached by another door,
1535
+ and it would have fired on any future widening too.
1536
+
1537
+ Such a gene now returns `{curated: False, note: ...}` and is named in `uncurated_genes`. Kept
1538
+ **distinct from `assayed: False` on purpose**: that one means the cohort's assay never interrogated
1539
+ the gene (a fact about the data, unfixable here), this one means we have not curated it yet (a fact
1540
+ about our snapshot, fixed by re-running `python -m src.curate <study>`). Collapsing them would tell
1541
+ a user their cohort cannot answer a question a re-curation answers fine.
1542
+
1543
+ Two tests: the gap is stated rather than dropped, and every committed artifact carries the *current*
1544
+ panel — the second fails loudly if a future widening skips the re-curation pass.
1545
+
1546
+ ### Test-suite notes
1547
+
1548
+ 179 pass (was 176). Three existing tests needed changing, and two of them were pinning the wrong
1549
+ thing: `test_panel_endpoint_returns_the_v1_panel` hardcoded `n_genes == 19` and now asserts the
1550
+ endpoint agrees with `load_panel()`, and `test_no_restriction_found_is_not_reported_as_permitted`
1551
+ pinned `paad_qcmg_uq_2016` and broke when that study's verdict legitimately changed — it now tests
1552
+ the *function's* semantics across all verdicts, which is the rule it was always guarding. The
1553
+ scaffold smoke test's `len(genes) == 29` is pinned deliberately, so a panel edit that skips
1554
+ re-curation cannot drift in quietly.
1555
+
1556
+ **Not deployed.** Code, artifacts, licences and docs only — no push to `origin`/`github` yet.
src/resources/curated/ccle_broad_2019.json CHANGED
@@ -5312,6 +5312,30 @@
5312
  "YMB1_BREAST": "deep_del",
5313
  "ZR7530_BREAST": "deep_del"
5314
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5315
  "BRCA1": {
5316
  "A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
5317
  "A673_BONE": "deep_del",
@@ -5494,6 +5518,61 @@
5494
  "VMRCRCW_KIDNEY": "deep_del",
5495
  "VMRCRCZ_KIDNEY": "deep_del"
5496
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5497
  "CDKN2A": {
5498
  "A101D_SKIN": "deep_del",
5499
  "A1207_CENTRAL_NERVOUS_SYSTEM": "deep_del",
@@ -5943,6 +6022,77 @@
5943
  "YH13_CENTRAL_NERVOUS_SYSTEM": "deep_del",
5944
  "YKG1_CENTRAL_NERVOUS_SYSTEM": "deep_del"
5945
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5946
  "ELAVL1": {
5947
  "AU565_BREAST": "deep_del",
5948
  "BT483_BREAST": "deep_del",
@@ -5987,6 +6137,49 @@
5987
  "UT7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
5988
  "VCAP_PROSTATE": "deep_del"
5989
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5990
  "GATA6": {
5991
  "BT20_BREAST": "deep_del",
5992
  "CAL27_UPPER_AERODIGESTIVE_TRACT": "deep_del",
@@ -6530,87 +6723,233 @@
6530
  "X143B_BONE": "deep_del",
6531
  "YAPC_PANCREAS": "amp"
6532
  },
6533
- "MYC": {
6534
- "AU565_BREAST": "amp",
6535
- "BFTC905_URINARY_TRACT": "amp",
6536
- "BHT101_THYROID": "amp",
6537
- "BICR16_UPPER_AERODIGESTIVE_TRACT": "amp",
6538
- "BICR31_UPPER_AERODIGESTIVE_TRACT": "amp",
6539
- "BICR6_UPPER_AERODIGESTIVE_TRACT": "amp",
6540
- "BT483_BREAST": "amp",
6541
- "BT549_BREAST": "amp",
6542
- "BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6543
- "CADOES1_BONE": "amp",
6544
- "CAL120_BREAST": "amp",
6545
- "CALU3_LUNG": "amp",
6546
- "CAOV4_OVARY": "amp",
6547
  "CAPAN1_PANCREAS": "amp",
6548
- "CFPAC1_PANCREAS": "amp",
6549
- "CL14_LARGE_INTESTINE": "deep_del",
6550
- "COLO320_LARGE_INTESTINE": "amp",
6551
- "COLO684_ENDOMETRIUM": "amp",
6552
- "COLO783_SKIN": "amp",
6553
- "CORL23_LUNG": "amp",
6554
- "CORL279_LUNG": "amp",
6555
- "CORL311_LUNG": "amp",
6556
- "COV362_OVARY": "amp",
6557
- "COV504_OVARY": "amp",
6558
- "CPCN_LUNG": "amp",
6559
- "D341MED_CENTRAL_NERVOUS_SYSTEM": "amp",
6560
- "DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6561
- "DMS273_LUNG": "amp",
6562
- "DMS79_LUNG": "amp",
6563
- "ECC10_STOMACH": "amp",
6564
- "ECC12_STOMACH": "amp",
6565
- "ECGI10_OESOPHAGUS": "amp",
6566
- "EFE184_ENDOMETRIUM": "amp",
6567
- "EFM192A_BREAST": "amp",
6568
- "EVSAT_BREAST": "amp",
6569
- "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6570
- "FADU_UPPER_AERODIGESTIVE_TRACT": "amp",
6571
- "FUOV1_OVARY": "amp",
6572
  "G292CLONEA141B1_BONE": "amp",
6573
- "GCIY_STOMACH": "amp",
6574
- "GI1_CENTRAL_NERVOUS_SYSTEM": "amp",
6575
- "GRM_SKIN": "amp",
6576
- "HARA_LUNG": "amp",
6577
- "HCC1143_BREAST": "amp",
6578
- "HCC1195_LUNG": "amp",
6579
- "HCC1359_LUNG": "amp",
6580
- "HCC1395_BREAST": "amp",
6581
- "HCC1419_BREAST": "amp",
6582
- "HCC1428_BREAST": "amp",
6583
- "HCC1500_BREAST": "amp",
6584
- "HCC1569_BREAST": "amp",
6585
- "HCC1599_BREAST": "amp",
6586
- "HCC1806_BREAST": "amp",
6587
- "HCC1937_BREAST": "amp",
6588
- "HCC1954_BREAST": "amp",
6589
- "HCC2157_BREAST": "amp",
6590
- "HCC2218_BREAST": "amp",
6591
- "HCC2279_LUNG": "amp",
6592
  "HCC2935_LUNG": "deep_del",
6593
- "HCC366_LUNG": "amp",
6594
- "HCC38_BREAST": "amp",
6595
- "HCC44_LUNG": "amp",
6596
- "HCC70_BREAST": "amp",
6597
- "HCC827_LUNG": "amp",
6598
- "HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6599
- "HDQP1_BREAST": "amp",
6600
- "HEC50B_ENDOMETRIUM": "amp",
6601
- "HGC27_STOMACH": "amp",
6602
- "HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6603
- "HMC18_BREAST": "amp",
6604
- "HS578T_BREAST": "amp",
6605
- "HT29_LARGE_INTESTINE": "amp",
6606
- "HUPT3_PANCREAS": "amp",
6607
- "IALM_LUNG": "amp",
6608
- "ISTMES1_PLEURA": "amp",
6609
- "ISTMES2_PLEURA": "amp",
6610
- "JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6611
- "JHH6_LIVER": "amp",
6612
- "JHOS2_OVARY": "amp",
6613
- "JHOS4_OVARY": "amp",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
6614
  "JHUEM3_ENDOMETRIUM": "amp",
6615
  "JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6616
  "JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
@@ -6781,80 +7120,325 @@
6781
  "SW1573_LUNG": "deep_del",
6782
  "VCAP_PROSTATE": "deep_del"
6783
  },
6784
- "RNF43": {
6785
- "AU565_BREAST": "deep_del",
 
 
 
6786
  "BICR18_UPPER_AERODIGESTIVE_TRACT": "amp",
6787
- "BT474_BREAST": "amp",
6788
- "CAKI1_KIDNEY": "amp",
6789
- "CHP126_AUTONOMIC_GANGLIA": "amp",
6790
- "CHP212_AUTONOMIC_GANGLIA": "amp",
6791
- "CL11_LARGE_INTESTINE": "deep_del",
6792
- "COV504_OVARY": "amp",
6793
- "EFM19_BREAST": "amp",
6794
- "EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6795
- "HCC1171_LUNG": "amp",
6796
- "HCC1428_BREAST": "amp",
6797
- "HCC1897_LUNG": "amp",
6798
- "HCC2218_BREAST": "amp",
6799
- "HCC38_BREAST": "amp",
6800
- "HUCCT1_BILIARY_TRACT": "deep_del",
6801
- "IMR32_AUTONOMIC_GANGLIA": "amp",
6802
- "JHOM2B_OVARY": "deep_del",
6803
- "KE39_STOMACH": "deep_del",
6804
- "KLM1_PANCREAS": "deep_del",
6805
- "KPL1_BREAST": "amp",
6806
- "MCF7_BREAST": "amp",
6807
- "MDAMB361_BREAST": "amp",
6808
- "MDAMB453_BREAST": "deep_del",
6809
- "NCIH1184_LUNG": "amp",
6810
- "NCIH1385_LUNG": "amp",
6811
- "NCIH1693_LUNG": "amp",
6812
- "NCIH2405_LUNG": "deep_del",
6813
- "NCIH522_LUNG": "amp",
6814
- "NUGC4_STOMACH": "amp",
6815
- "OVKATE_OVARY": "amp",
6816
- "PANC0203_PANCREAS": "amp",
6817
- "PANC1005_PANCREAS": "deep_del",
6818
- "PK1_PANCREAS": "deep_del",
6819
- "PL45_PANCREAS": "deep_del",
6820
- "REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6821
- "RERFLCAI_LUNG": "deep_del",
6822
- "RMGI_OVARY": "amp",
6823
- "S117_SOFT_TISSUE": "amp",
6824
- "SIMA_AUTONOMIC_GANGLIA": "amp",
6825
- "SKBR3_BREAST": "deep_del",
6826
- "SNU685_ENDOMETRIUM": "amp",
6827
- "U2OS_BONE": "amp",
6828
- "WM983B_SKIN": "amp",
6829
- "ZR751_BREAST": "amp"
6830
- },
6831
- "SMAD4": {
6832
- "A172_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6833
- "A2058_SKIN": "amp",
6834
- "A253_SALIVARY_GLAND": "deep_del",
6835
- "AGS_STOMACH": "deep_del",
6836
- "ASPC1_PANCREAS": "deep_del",
6837
- "AU565_BREAST": "deep_del",
6838
- "BFTC905_URINARY_TRACT": "deep_del",
6839
- "BHY_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6840
- "BICR18_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6841
- "BICR22_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6842
- "BICR31_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6843
- "BT20_BREAST": "deep_del",
6844
- "BXPC3_PANCREAS": "deep_del",
6845
- "C2BBE1_LARGE_INTESTINE": "deep_del",
6846
- "CAL12T_LUNG": "deep_del",
6847
- "CAL27_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6848
- "CAL33_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6849
- "CAOV4_OVARY": "amp",
6850
- "CAPAN1_PANCREAS": "deep_del",
6851
- "CFPAC1_PANCREAS": "deep_del",
6852
- "CH157MN_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6853
- "CHAGOK1_LUNG": "amp",
6854
- "CL11_LARGE_INTESTINE": "deep_del",
6855
- "CL14_LARGE_INTESTINE": "deep_del",
6856
- "COLO205_LARGE_INTESTINE": "deep_del",
6857
- "COLO320_LARGE_INTESTINE": "amp",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
6858
  "COLO668_LUNG": "amp",
6859
  "COLO678_LARGE_INTESTINE": "deep_del",
6860
  "COLO680N_OESOPHAGUS": "deep_del",
@@ -7323,12 +7907,12 @@
7323
  }
7324
  },
7325
  "counts": {
7326
- "n_cnv_cells": 2171,
7327
- "n_genes": 19,
7328
- "n_mutated_cells": 3485,
7329
  "n_samples": 1739
7330
  },
7331
- "curated_at": "2026-07-28T23:39:38.203680+00:00",
7332
  "genes_assayed": null,
7333
  "modalities": {
7334
  "cnv": true,
@@ -7814,12 +8398,72 @@
7814
  "WM983B_SKIN": "missense",
7815
  "WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense"
7816
  },
7817
- "BRCA1": {
7818
- "253JBV_URINARY_TRACT": "missense",
7819
- "253J_URINARY_TRACT": "missense",
7820
- "BFTC905_URINARY_TRACT": "missense",
7821
- "BHY_UPPER_AERODIGESTIVE_TRACT": "truncating",
7822
- "BT16_SOFT_TISSUE": "missense",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
7823
  "CCK81_LARGE_INTESTINE": "missense",
7824
  "CJM_SKIN": "missense",
7825
  "COGN278_AUTONOMIC_GANGLIA": "missense",
@@ -8098,6 +8742,95 @@
8098
  "YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8099
  "ZR7530_BREAST": "missense"
8100
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
8101
  "CDKN2A": {
8102
  "451LU_SKIN": "truncating",
8103
  "639V_URINARY_TRACT": "truncating",
@@ -8255,6 +8988,53 @@
8255
  "WM983B_SKIN": "missense",
8256
  "YD10B_UPPER_AERODIGESTIVE_TRACT": "truncating"
8257
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
8258
  "ELAVL1": {
8259
  "BICR18_UPPER_AERODIGESTIVE_TRACT": "missense",
8260
  "CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
@@ -8285,6 +9065,41 @@
8285
  "SNU407_LARGE_INTESTINE": "missense",
8286
  "UMUC3_URINARY_TRACT": "missense"
8287
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
8288
  "GATA6": {
8289
  "A253_SALIVARY_GLAND": "missense",
8290
  "CALU6_LUNG": "missense",
@@ -9489,6 +10304,257 @@
9489
  "YD8_UPPER_AERODIGESTIVE_TRACT": "missense",
9490
  "YMB1E_BREAST": "missense"
9491
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
9492
  "MYC": {
9493
  "A1207_CENTRAL_NERVOUS_SYSTEM": "missense",
9494
  "A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
@@ -9632,6 +10698,108 @@
9632
  "UMUC6_URINARY_TRACT": "missense",
9633
  "VMRCMELG_SKIN": "missense"
9634
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
9635
  "RNF43": {
9636
  "2313287_STOMACH": "truncating",
9637
  "A704_KIDNEY": "missense",
@@ -10879,7 +12047,17 @@
10879
  "BRCA1",
10880
  "BRCA2",
10881
  "PALB2",
10882
- "ATM"
 
 
 
 
 
 
 
 
 
 
10883
  ],
10884
  "profiled": {
10885
  "cnv": [
@@ -13960,6 +15138,64 @@
13960
  "ATM\tVMCUB1_URINARY_TRACT": "ATM L243W",
13961
  "ATM\tWM983B_SKIN": "ATM G2675R",
13962
  "ATM\tWSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ATM A1090T",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
13963
  "BRCA1\t253JBV_URINARY_TRACT": "BRCA1 V1687F",
13964
  "BRCA1\t253J_URINARY_TRACT": "BRCA1 V1687F",
13965
  "BRCA1\tBFTC905_URINARY_TRACT": "BRCA1 D1398N",
@@ -14003,7 +15239,7 @@
14003
  "BRCA1\tJHUEM1_ENDOMETRIUM": "BRCA1 S1577P",
14004
  "BRCA1\tJHUEM2_ENDOMETRIUM": "BRCA1 G1710E",
14005
  "BRCA1\tJHUEM7_ENDOMETRIUM": "BRCA1 G275D",
14006
- "BRCA1\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA1 C1270Y",
14007
  "BRCA1\tKCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA1 A1481V",
14008
  "BRCA1\tKE39_STOMACH": "BRCA1 Y1853C",
14009
  "BRCA1\tKM12_LARGE_INTESTINE": "BRCA1 P1579S",
@@ -14240,6 +15476,93 @@
14240
  "BRCA2\tVMRCRCZ_KIDNEY": "BRCA2 V726Sfs*25",
14241
  "BRCA2\tYT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA2 G2044V",
14242
  "BRCA2\tZR7530_BREAST": "BRCA2 M2322I",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
14243
  "CDKN2A\t451LU_SKIN": "CDKN2A E61Gfs*59",
14244
  "CDKN2A\t639V_URINARY_TRACT": "CDKN2A R58*",
14245
  "CDKN2A\t8305C_THYROID": "CDKN2A H66R",
@@ -14395,6 +15718,51 @@
14395
  "CDKN2A\tVMRCMELG_SKIN": "CDKN2A X153_splice",
14396
  "CDKN2A\tWM983B_SKIN": "CDKN2A P114L",
14397
  "CDKN2A\tYD10B_UPPER_AERODIGESTIVE_TRACT": "CDKN2A W110*",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
14398
  "ELAVL1\tBICR18_UPPER_AERODIGESTIVE_TRACT": "ELAVL1 V193M",
14399
  "ELAVL1\tCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ELAVL1 A204V",
14400
  "ELAVL1\tCMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ELAVL1 R157Q",
@@ -14423,6 +15791,39 @@
14423
  "ELAVL1\tSNU175_LARGE_INTESTINE": "ELAVL1 I276F",
14424
  "ELAVL1\tSNU407_LARGE_INTESTINE": "ELAVL1 H170Y",
14425
  "ELAVL1\tUMUC3_URINARY_TRACT": "ELAVL1 S176C",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
14426
  "GATA6\tA253_SALIVARY_GLAND": "GATA6 H331P",
14427
  "GATA6\tCALU6_LUNG": "GATA6 S44F",
14428
  "GATA6\tCHAGOK1_LUNG": "GATA6 G321R",
@@ -15615,6 +17016,251 @@
15615
  "KRAS\tYAPC_PANCREAS": "KRAS G12V",
15616
  "KRAS\tYD8_UPPER_AERODIGESTIVE_TRACT": "KRAS G138V",
15617
  "KRAS\tYMB1E_BREAST": "KRAS K117N",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
15618
  "MYC\tA1207_CENTRAL_NERVOUS_SYSTEM": "MYC P134R",
15619
  "MYC\tA3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MYC N451Vfs*6",
15620
  "MYC\tA4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MYC V7A",
@@ -15754,6 +17400,102 @@
15754
  "PALB2\tSNUC1_LARGE_INTESTINE": "PALB2 D277N",
15755
  "PALB2\tUMUC6_URINARY_TRACT": "PALB2 D848N",
15756
  "PALB2\tVMRCMELG_SKIN": "PALB2 P661S",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
15757
  "RNF43\t2313287_STOMACH": "RNF43 G659Vfs*41",
15758
  "RNF43\tA704_KIDNEY": "RNF43 P620S",
15759
  "RNF43\tABC1_LUNG": "RNF43 P391S",
 
5312
  "YMB1_BREAST": "deep_del",
5313
  "ZR7530_BREAST": "deep_del"
5314
  },
5315
+ "BARD1": {
5316
+ "CHAGOK1_LUNG": "deep_del",
5317
+ "COLO741_SKIN": "deep_del",
5318
+ "CORL95_LUNG": "deep_del",
5319
+ "ECGI10_OESOPHAGUS": "deep_del",
5320
+ "HCC1897_LUNG": "deep_del",
5321
+ "HCC1937_BREAST": "deep_del",
5322
+ "HDQP1_BREAST": "deep_del",
5323
+ "HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5324
+ "KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5325
+ "KYSE520_OESOPHAGUS": "deep_del",
5326
+ "ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5327
+ "MOTN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5328
+ "MSTO211H_PLEURA": "deep_del",
5329
+ "NCIH226_LUNG": "deep_del",
5330
+ "OVCAR8_OVARY": "deep_del",
5331
+ "RD_SOFT_TISSUE": "amp",
5332
+ "REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5333
+ "SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5334
+ "SLR25_KIDNEY": "deep_del",
5335
+ "SNU1214_UPPER_AERODIGESTIVE_TRACT": "deep_del",
5336
+ "T84_LARGE_INTESTINE": "deep_del",
5337
+ "T98G_CENTRAL_NERVOUS_SYSTEM": "amp"
5338
+ },
5339
  "BRCA1": {
5340
  "A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
5341
  "A673_BONE": "deep_del",
 
5518
  "VMRCRCW_KIDNEY": "deep_del",
5519
  "VMRCRCZ_KIDNEY": "deep_del"
5520
  },
5521
+ "BRIP1": {
5522
+ "AU565_BREAST": "deep_del",
5523
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "amp",
5524
+ "CAKI1_KIDNEY": "amp",
5525
+ "CHP126_AUTONOMIC_GANGLIA": "amp",
5526
+ "CHP212_AUTONOMIC_GANGLIA": "amp",
5527
+ "COLO679_SKIN": "amp",
5528
+ "COV504_OVARY": "amp",
5529
+ "DBTRG05MG_CENTRAL_NERVOUS_SYSTEM": "deep_del",
5530
+ "DKMG_CENTRAL_NERVOUS_SYSTEM": "deep_del",
5531
+ "EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
5532
+ "GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5533
+ "HARA_LUNG": "amp",
5534
+ "HCC1171_LUNG": "amp",
5535
+ "HCC1428_BREAST": "amp",
5536
+ "HCC1897_LUNG": "amp",
5537
+ "HCC2218_BREAST": "amp",
5538
+ "HCC38_BREAST": "amp",
5539
+ "HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5540
+ "HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5541
+ "HS571T_OVARY": "deep_del",
5542
+ "IMR32_AUTONOMIC_GANGLIA": "amp",
5543
+ "JHESOAD1_OESOPHAGUS": "amp",
5544
+ "JHOM2B_OVARY": "deep_del",
5545
+ "JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
5546
+ "KE39_STOMACH": "amp",
5547
+ "KPL1_BREAST": "amp",
5548
+ "LCLC97TM1_LUNG": "amp",
5549
+ "MCF7_BREAST": "amp",
5550
+ "MDAMB361_BREAST": "amp",
5551
+ "MDAMB453_BREAST": "amp",
5552
+ "MELJUSO_SKIN": "amp",
5553
+ "MEWO_SKIN": "amp",
5554
+ "NCIH1184_LUNG": "amp",
5555
+ "NCIH1385_LUNG": "amp",
5556
+ "NCIH1915_LUNG": "amp",
5557
+ "NCIH522_LUNG": "amp",
5558
+ "NUGC4_STOMACH": "amp",
5559
+ "OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
5560
+ "OVKATE_OVARY": "amp",
5561
+ "PANC0203_PANCREAS": "amp",
5562
+ "RMGI_OVARY": "amp",
5563
+ "S117_SOFT_TISSUE": "amp",
5564
+ "SCC9_UPPER_AERODIGESTIVE_TRACT": "amp",
5565
+ "SIMA_AUTONOMIC_GANGLIA": "amp",
5566
+ "SKBR3_BREAST": "deep_del",
5567
+ "SKMES1_LUNG": "amp",
5568
+ "SNU685_ENDOMETRIUM": "amp",
5569
+ "SNU869_BILIARY_TRACT": "amp",
5570
+ "SUIT2_PANCREAS": "amp",
5571
+ "U2OS_BONE": "amp",
5572
+ "VMRCRCZ_KIDNEY": "deep_del",
5573
+ "YD15_SALIVARY_GLAND": "amp",
5574
+ "ZR751_BREAST": "amp"
5575
+ },
5576
  "CDKN2A": {
5577
  "A101D_SKIN": "deep_del",
5578
  "A1207_CENTRAL_NERVOUS_SYSTEM": "deep_del",
 
6022
  "YH13_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6023
  "YKG1_CENTRAL_NERVOUS_SYSTEM": "deep_del"
6024
  },
6025
+ "CHEK2": {
6026
+ "A172_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6027
+ "AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6028
+ "BCPAP_THYROID": "deep_del",
6029
+ "BT483_BREAST": "deep_del",
6030
+ "CAL148_BREAST": "deep_del",
6031
+ "CAOV3_OVARY": "amp",
6032
+ "CL11_LARGE_INTESTINE": "deep_del",
6033
+ "COLO678_LARGE_INTESTINE": "deep_del",
6034
+ "CORL105_LUNG": "deep_del",
6035
+ "COV504_OVARY": "deep_del",
6036
+ "DMS53_LUNG": "deep_del",
6037
+ "ECC10_STOMACH": "deep_del",
6038
+ "GOS3_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6039
+ "HCC1395_BREAST": "amp",
6040
+ "HCC1806_BREAST": "deep_del",
6041
+ "HCC1897_LUNG": "deep_del",
6042
+ "HEC1B_ENDOMETRIUM": "deep_del",
6043
+ "HSC3_UPPER_AERODIGESTIVE_TRACT": "amp",
6044
+ "HUPT3_PANCREAS": "deep_del",
6045
+ "JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6046
+ "JHH2_LIVER": "amp",
6047
+ "JHH7_LIVER": "amp",
6048
+ "JHOM2B_OVARY": "deep_del",
6049
+ "JHOS4_OVARY": "deep_del",
6050
+ "JL1_PLEURA": "deep_del",
6051
+ "KALS1_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6052
+ "KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6053
+ "KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6054
+ "KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6055
+ "KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6056
+ "KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6057
+ "KNS42_CENTRAL_NERVOUS_SYSTEM": "amp",
6058
+ "KNS81_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6059
+ "KS1_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6060
+ "LS1034_LARGE_INTESTINE": "deep_del",
6061
+ "MKN45_STOMACH": "deep_del",
6062
+ "MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6063
+ "NCIH1581_LUNG": "deep_del",
6064
+ "NCIH2196_LUNG": "deep_del",
6065
+ "NCIH2228_LUNG": "deep_del",
6066
+ "NCIH226_LUNG": "deep_del",
6067
+ "NCIH2286_LUNG": "deep_del",
6068
+ "NCIH292_LUNG": "deep_del",
6069
+ "OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6070
+ "OV90_OVARY": "deep_del",
6071
+ "OVKATE_OVARY": "deep_del",
6072
+ "PANC0203_PANCREAS": "amp",
6073
+ "PANC0213_PANCREAS": "deep_del",
6074
+ "PANC1005_PANCREAS": "deep_del",
6075
+ "PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6076
+ "PK59_PANCREAS": "deep_del",
6077
+ "SH4_SKIN": "deep_del",
6078
+ "SKCO1_LARGE_INTESTINE": "amp",
6079
+ "SKMEL2_SKIN": "deep_del",
6080
+ "SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6081
+ "SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6082
+ "SKOV3_OVARY": "deep_del",
6083
+ "SLR24_KIDNEY": "deep_del",
6084
+ "SNU626_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6085
+ "SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6086
+ "SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6087
+ "SW1271_LUNG": "deep_del",
6088
+ "SW1573_LUNG": "deep_del",
6089
+ "SW837_LARGE_INTESTINE": "deep_del",
6090
+ "T3M10_LUNG": "deep_del",
6091
+ "TEN_ENDOMETRIUM": "deep_del",
6092
+ "TT2609C02_THYROID": "deep_del",
6093
+ "TUHR10TKB_KIDNEY": "deep_del",
6094
+ "YH13_CENTRAL_NERVOUS_SYSTEM": "amp"
6095
+ },
6096
  "ELAVL1": {
6097
  "AU565_BREAST": "deep_del",
6098
  "BT483_BREAST": "deep_del",
 
6137
  "UT7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6138
  "VCAP_PROSTATE": "deep_del"
6139
  },
6140
+ "FANCC": {
6141
+ "BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6142
+ "DANG_PANCREAS": "amp",
6143
+ "EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6144
+ "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6145
+ "GB1_CENTRAL_NERVOUS_SYSTEM": "amp",
6146
+ "HCC1395_BREAST": "amp",
6147
+ "HCC38_BREAST": "amp",
6148
+ "HCC95_LUNG": "amp",
6149
+ "HGC27_STOMACH": "amp",
6150
+ "HS746T_STOMACH": "amp",
6151
+ "JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6152
+ "JIMT1_BREAST": "amp",
6153
+ "JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6154
+ "KELLY_AUTONOMIC_GANGLIA": "deep_del",
6155
+ "KMRC2_KIDNEY": "deep_del",
6156
+ "KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6157
+ "KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6158
+ "KYSE30_OESOPHAGUS": "amp",
6159
+ "MDAMB453_BREAST": "deep_del",
6160
+ "ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6161
+ "MEWO_SKIN": "deep_del",
6162
+ "NCIH2030_LUNG": "deep_del",
6163
+ "OVMANA_OVARY": "deep_del",
6164
+ "PANC0327_PANCREAS": "deep_del",
6165
+ "PECAPJ15_UPPER_AERODIGESTIVE_TRACT": "amp",
6166
+ "PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6167
+ "RH18_SOFT_TISSUE": "deep_del",
6168
+ "SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6169
+ "SKCO1_LARGE_INTESTINE": "deep_del",
6170
+ "SKES1_BONE": "amp",
6171
+ "SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6172
+ "SKMEL1_SKIN": "deep_del",
6173
+ "SKRC31_KIDNEY": "deep_del",
6174
+ "SNU1076_UPPER_AERODIGESTIVE_TRACT": "amp",
6175
+ "SNU1214_UPPER_AERODIGESTIVE_TRACT": "amp",
6176
+ "SNU349_KIDNEY": "deep_del",
6177
+ "SNU601_STOMACH": "deep_del",
6178
+ "SNU869_BILIARY_TRACT": "deep_del",
6179
+ "TE14_OESOPHAGUS": "amp",
6180
+ "TT_THYROID": "deep_del",
6181
+ "VMRCRCZ_KIDNEY": "deep_del"
6182
+ },
6183
  "GATA6": {
6184
  "BT20_BREAST": "deep_del",
6185
  "CAL27_UPPER_AERODIGESTIVE_TRACT": "deep_del",
 
6723
  "X143B_BONE": "deep_del",
6724
  "YAPC_PANCREAS": "amp"
6725
  },
6726
+ "MLH1": {
6727
+ "A704_KIDNEY": "deep_del",
6728
+ "BEN_LUNG": "deep_del",
6729
+ "BICR22_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6730
+ "BICR31_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6731
+ "BICR56_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6732
+ "CAL120_BREAST": "deep_del",
6733
+ "CAL27_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6734
+ "CAL33_UPPER_AERODIGESTIVE_TRACT": "deep_del",
 
 
 
 
 
6735
  "CAPAN1_PANCREAS": "amp",
6736
+ "CCFSTTG1_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6737
+ "CHAGOK1_LUNG": "deep_del",
6738
+ "CORL105_LUNG": "deep_del",
6739
+ "CORL47_LUNG": "deep_del",
6740
+ "CORL51_LUNG": "deep_del",
6741
+ "CPCN_LUNG": "deep_del",
6742
+ "DMS153_LUNG": "deep_del",
6743
+ "DMS454_LUNG": "deep_del",
6744
+ "DMS53_LUNG": "deep_del",
6745
+ "DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6746
+ "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
 
 
 
 
 
 
 
 
 
 
 
 
 
6747
  "G292CLONEA141B1_BONE": "amp",
6748
+ "GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
6749
  "HCC2935_LUNG": "deep_del",
6750
+ "HEC1B_ENDOMETRIUM": "amp",
6751
+ "HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6752
+ "JHH2_LIVER": "deep_del",
6753
+ "KMRC20_KIDNEY": "deep_del",
6754
+ "KMRC2_KIDNEY": "deep_del",
6755
+ "KMRC3_KIDNEY": "deep_del",
6756
+ "KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6757
+ "MDAMB134VI_BREAST": "deep_del",
6758
+ "MHHES1_BONE": "deep_del",
6759
+ "NCIH1385_LUNG": "deep_del",
6760
+ "NCIH1436_LUNG": "deep_del",
6761
+ "NCIH1694_LUNG": "deep_del",
6762
+ "NCIH1963_LUNG": "deep_del",
6763
+ "NCIH209_LUNG": "deep_del",
6764
+ "NCIH2172_LUNG": "amp",
6765
+ "NCIH2228_LUNG": "deep_del",
6766
+ "NCIH647_LUNG": "deep_del",
6767
+ "NCIH810_LUNG": "deep_del",
6768
+ "NCIN87_STOMACH": "deep_del",
6769
+ "OV90_OVARY": "deep_del",
6770
+ "OVKATE_OVARY": "deep_del",
6771
+ "PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6772
+ "PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6773
+ "PECAPJ49_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6774
+ "RCC10RGB_KIDNEY": "deep_del",
6775
+ "RCC4_KIDNEY": "deep_del",
6776
+ "REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6777
+ "RH18_SOFT_TISSUE": "deep_del",
6778
+ "RMUGS_OVARY": "deep_del",
6779
+ "SCC25_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6780
+ "SCLC21H_LUNG": "deep_del",
6781
+ "SF172_CENTRAL_NERVOUS_SYSTEM": "deep_del",
6782
+ "SKBR3_BREAST": "amp",
6783
+ "SKMEL24_SKIN": "deep_del",
6784
+ "SKNAS_AUTONOMIC_GANGLIA": "deep_del",
6785
+ "SKNBE2_AUTONOMIC_GANGLIA": "deep_del",
6786
+ "SKNMC_BONE": "deep_del",
6787
+ "SKOV3_OVARY": "deep_del",
6788
+ "SKRC31_KIDNEY": "deep_del",
6789
+ "SLR24_KIDNEY": "deep_del",
6790
+ "SLR26_KIDNEY": "deep_del",
6791
+ "SNU1040_LARGE_INTESTINE": "deep_del",
6792
+ "SNU1197_LARGE_INTESTINE": "deep_del",
6793
+ "SNU1214_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6794
+ "SNU1272_KIDNEY": "deep_del",
6795
+ "SNU1_STOMACH": "deep_del",
6796
+ "SNU349_KIDNEY": "deep_del",
6797
+ "SNUC2A_LARGE_INTESTINE": "deep_del",
6798
+ "SW837_LARGE_INTESTINE": "deep_del",
6799
+ "T3M10_LUNG": "deep_del",
6800
+ "T84_LARGE_INTESTINE": "amp",
6801
+ "TT_OESOPHAGUS": "deep_del",
6802
+ "TT_THYROID": "deep_del",
6803
+ "TUHR10TKB_KIDNEY": "deep_del",
6804
+ "TUHR4TKB_KIDNEY": "deep_del",
6805
+ "VMRCLCD_LUNG": "deep_del",
6806
+ "VMRCRCZ_KIDNEY": "deep_del",
6807
+ "X769P_KIDNEY": "deep_del"
6808
+ },
6809
+ "MSH2": {
6810
+ "A172_CENTRAL_NERVOUS_SYSTEM": "amp",
6811
+ "ABC1_LUNG": "amp",
6812
+ "BICR56_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6813
+ "CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6814
+ "COLO320_LARGE_INTESTINE": "amp",
6815
+ "DETROIT562_UPPER_AERODIGESTIVE_TRACT": "amp",
6816
+ "HCC1599_BREAST": "amp",
6817
+ "HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6818
+ "HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6819
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6820
+ "L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6821
+ "LNCAPCLONEFGC_PROSTATE": "deep_del",
6822
+ "LOVO_LARGE_INTESTINE": "deep_del",
6823
+ "MDAPCA2B_PROSTATE": "deep_del",
6824
+ "MFE280_ENDOMETRIUM": "deep_del",
6825
+ "MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6826
+ "NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6827
+ "NCIH1623_LUNG": "amp",
6828
+ "NCIH2052_PLEURA": "amp",
6829
+ "NCIH23_LUNG": "amp",
6830
+ "OC314_OVARY": "amp",
6831
+ "OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6832
+ "OE19_OESOPHAGUS": "deep_del",
6833
+ "SNU175_LARGE_INTESTINE": "deep_del",
6834
+ "SNU245_BILIARY_TRACT": "amp",
6835
+ "SNU324_PANCREAS": "deep_del",
6836
+ "SNU407_LARGE_INTESTINE": "deep_del",
6837
+ "SNU503_LARGE_INTESTINE": "amp",
6838
+ "SNUC2A_LARGE_INTESTINE": "deep_del",
6839
+ "SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6840
+ "TE1_OESOPHAGUS": "amp",
6841
+ "X22RV1_PROSTATE": "deep_del",
6842
+ "X647V_URINARY_TRACT": "amp"
6843
+ },
6844
+ "MSH6": {
6845
+ "ABC1_LUNG": "amp",
6846
+ "BICR56_UPPER_AERODIGESTIVE_TRACT": "deep_del",
6847
+ "COLO320_LARGE_INTESTINE": "amp",
6848
+ "DETROIT562_UPPER_AERODIGESTIVE_TRACT": "amp",
6849
+ "HCC1599_BREAST": "amp",
6850
+ "HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6851
+ "HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6852
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6853
+ "L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6854
+ "LNCAPCLONEFGC_PROSTATE": "deep_del",
6855
+ "MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6856
+ "NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6857
+ "NCIH1623_LUNG": "amp",
6858
+ "NCIH2052_PLEURA": "amp",
6859
+ "NCIH23_LUNG": "amp",
6860
+ "OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6861
+ "RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6862
+ "SNU1077_ENDOMETRIUM": "amp",
6863
+ "SNU175_LARGE_INTESTINE": "deep_del",
6864
+ "SNU324_PANCREAS": "deep_del",
6865
+ "SNU503_LARGE_INTESTINE": "amp",
6866
+ "SNUC2A_LARGE_INTESTINE": "deep_del",
6867
+ "SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
6868
+ "TE1_OESOPHAGUS": "amp",
6869
+ "X22RV1_PROSTATE": "deep_del",
6870
+ "X647V_URINARY_TRACT": "amp"
6871
+ },
6872
+ "MYC": {
6873
+ "AU565_BREAST": "amp",
6874
+ "BFTC905_URINARY_TRACT": "amp",
6875
+ "BHT101_THYROID": "amp",
6876
+ "BICR16_UPPER_AERODIGESTIVE_TRACT": "amp",
6877
+ "BICR31_UPPER_AERODIGESTIVE_TRACT": "amp",
6878
+ "BICR6_UPPER_AERODIGESTIVE_TRACT": "amp",
6879
+ "BT483_BREAST": "amp",
6880
+ "BT549_BREAST": "amp",
6881
+ "BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6882
+ "CADOES1_BONE": "amp",
6883
+ "CAL120_BREAST": "amp",
6884
+ "CALU3_LUNG": "amp",
6885
+ "CAOV4_OVARY": "amp",
6886
+ "CAPAN1_PANCREAS": "amp",
6887
+ "CFPAC1_PANCREAS": "amp",
6888
+ "CL14_LARGE_INTESTINE": "deep_del",
6889
+ "COLO320_LARGE_INTESTINE": "amp",
6890
+ "COLO684_ENDOMETRIUM": "amp",
6891
+ "COLO783_SKIN": "amp",
6892
+ "CORL23_LUNG": "amp",
6893
+ "CORL279_LUNG": "amp",
6894
+ "CORL311_LUNG": "amp",
6895
+ "COV362_OVARY": "amp",
6896
+ "COV504_OVARY": "amp",
6897
+ "CPCN_LUNG": "amp",
6898
+ "D341MED_CENTRAL_NERVOUS_SYSTEM": "amp",
6899
+ "DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6900
+ "DMS273_LUNG": "amp",
6901
+ "DMS79_LUNG": "amp",
6902
+ "ECC10_STOMACH": "amp",
6903
+ "ECC12_STOMACH": "amp",
6904
+ "ECGI10_OESOPHAGUS": "amp",
6905
+ "EFE184_ENDOMETRIUM": "amp",
6906
+ "EFM192A_BREAST": "amp",
6907
+ "EVSAT_BREAST": "amp",
6908
+ "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6909
+ "FADU_UPPER_AERODIGESTIVE_TRACT": "amp",
6910
+ "FUOV1_OVARY": "amp",
6911
+ "G292CLONEA141B1_BONE": "amp",
6912
+ "GCIY_STOMACH": "amp",
6913
+ "GI1_CENTRAL_NERVOUS_SYSTEM": "amp",
6914
+ "GRM_SKIN": "amp",
6915
+ "HARA_LUNG": "amp",
6916
+ "HCC1143_BREAST": "amp",
6917
+ "HCC1195_LUNG": "amp",
6918
+ "HCC1359_LUNG": "amp",
6919
+ "HCC1395_BREAST": "amp",
6920
+ "HCC1419_BREAST": "amp",
6921
+ "HCC1428_BREAST": "amp",
6922
+ "HCC1500_BREAST": "amp",
6923
+ "HCC1569_BREAST": "amp",
6924
+ "HCC1599_BREAST": "amp",
6925
+ "HCC1806_BREAST": "amp",
6926
+ "HCC1937_BREAST": "amp",
6927
+ "HCC1954_BREAST": "amp",
6928
+ "HCC2157_BREAST": "amp",
6929
+ "HCC2218_BREAST": "amp",
6930
+ "HCC2279_LUNG": "amp",
6931
+ "HCC2935_LUNG": "deep_del",
6932
+ "HCC366_LUNG": "amp",
6933
+ "HCC38_BREAST": "amp",
6934
+ "HCC44_LUNG": "amp",
6935
+ "HCC70_BREAST": "amp",
6936
+ "HCC827_LUNG": "amp",
6937
+ "HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6938
+ "HDQP1_BREAST": "amp",
6939
+ "HEC50B_ENDOMETRIUM": "amp",
6940
+ "HGC27_STOMACH": "amp",
6941
+ "HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6942
+ "HMC18_BREAST": "amp",
6943
+ "HS578T_BREAST": "amp",
6944
+ "HT29_LARGE_INTESTINE": "amp",
6945
+ "HUPT3_PANCREAS": "amp",
6946
+ "IALM_LUNG": "amp",
6947
+ "ISTMES1_PLEURA": "amp",
6948
+ "ISTMES2_PLEURA": "amp",
6949
+ "JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6950
+ "JHH6_LIVER": "amp",
6951
+ "JHOS2_OVARY": "amp",
6952
+ "JHOS4_OVARY": "amp",
6953
  "JHUEM3_ENDOMETRIUM": "amp",
6954
  "JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
6955
  "JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
 
7120
  "SW1573_LUNG": "deep_del",
7121
  "VCAP_PROSTATE": "deep_del"
7122
  },
7123
+ "PMS2": {
7124
+ "ABC1_LUNG": "amp",
7125
+ "ACHN_KIDNEY": "amp",
7126
+ "AU565_BREAST": "amp",
7127
+ "BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7128
  "BICR18_UPPER_AERODIGESTIVE_TRACT": "amp",
7129
+ "BICR31_UPPER_AERODIGESTIVE_TRACT": "amp",
7130
+ "CAL27_UPPER_AERODIGESTIVE_TRACT": "amp",
7131
+ "CAL33_UPPER_AERODIGESTIVE_TRACT": "amp",
7132
+ "CAL54_KIDNEY": "amp",
7133
+ "CAPAN1_PANCREAS": "amp",
7134
+ "CAS1_CENTRAL_NERVOUS_SYSTEM": "amp",
7135
+ "CGTHW1_THYROID": "amp",
7136
+ "CHP126_AUTONOMIC_GANGLIA": "deep_del",
7137
+ "CL11_LARGE_INTESTINE": "amp",
7138
+ "COLO668_LUNG": "amp",
7139
+ "COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7140
+ "COLO800_SKIN": "amp",
7141
+ "COLO818_SKIN": "amp",
7142
+ "COV644_OVARY": "amp",
7143
+ "D283MED_CENTRAL_NERVOUS_SYSTEM": "deep_del",
7144
+ "DANG_PANCREAS": "amp",
7145
+ "DKMG_CENTRAL_NERVOUS_SYSTEM": "amp",
7146
+ "DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7147
+ "ECC12_STOMACH": "amp",
7148
+ "ECGI10_OESOPHAGUS": "amp",
7149
+ "EN_ENDOMETRIUM": "deep_del",
7150
+ "EPLC272H_LUNG": "amp",
7151
+ "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7152
+ "G361_SKIN": "amp",
7153
+ "GB1_CENTRAL_NERVOUS_SYSTEM": "amp",
7154
+ "GI1_CENTRAL_NERVOUS_SYSTEM": "amp",
7155
+ "GOS3_CENTRAL_NERVOUS_SYSTEM": "amp",
7156
+ "GSS_STOMACH": "amp",
7157
+ "H4_CENTRAL_NERVOUS_SYSTEM": "amp",
7158
+ "HCC1806_BREAST": "amp",
7159
+ "HCC202_BREAST": "amp",
7160
+ "HCC2279_LUNG": "amp",
7161
+ "HCC2935_LUNG": "amp",
7162
+ "HCC4006_LUNG": "amp",
7163
+ "HCC70_BREAST": "amp",
7164
+ "HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7165
+ "HEP3B217_LIVER": "amp",
7166
+ "HGC27_STOMACH": "amp",
7167
+ "HS852T_SKIN": "amp",
7168
+ "HSC4_UPPER_AERODIGESTIVE_TRACT": "amp",
7169
+ "HUG1N_STOMACH": "amp",
7170
+ "HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7171
+ "IPC298_SKIN": "amp",
7172
+ "JHH2_LIVER": "amp",
7173
+ "JHOM2B_OVARY": "amp",
7174
+ "JHUEM3_ENDOMETRIUM": "deep_del",
7175
+ "JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7176
+ "KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7177
+ "KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7178
+ "KMRC20_KIDNEY": "deep_del",
7179
+ "KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7180
+ "KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7181
+ "KPNSI9S_AUTONOMIC_GANGLIA": "amp",
7182
+ "KYSE140_OESOPHAGUS": "amp",
7183
+ "KYSE410_OESOPHAGUS": "amp",
7184
+ "LMSU_STOMACH": "amp",
7185
+ "LN229_CENTRAL_NERVOUS_SYSTEM": "amp",
7186
+ "LN340_CENTRAL_NERVOUS_SYSTEM": "amp",
7187
+ "LN382_CENTRAL_NERVOUS_SYSTEM": "amp",
7188
+ "LOUNH91_LUNG": "amp",
7189
+ "LU65_LUNG": "amp",
7190
+ "LU99_LUNG": "amp",
7191
+ "LXF289_LUNG": "amp",
7192
+ "MDAMB436_BREAST": "amp",
7193
+ "MELJUSO_SKIN": "amp",
7194
+ "MESSA_SOFT_TISSUE": "deep_del",
7195
+ "MOGGCCM_CENTRAL_NERVOUS_SYSTEM": "amp",
7196
+ "MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7197
+ "MPP89_PLEURA": "deep_del",
7198
+ "NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7199
+ "NCCSTCK140_STOMACH": "amp",
7200
+ "NCIH1339_LUNG": "amp",
7201
+ "NCIH1563_LUNG": "amp",
7202
+ "NCIH1623_LUNG": "amp",
7203
+ "NCIH1703_LUNG": "amp",
7204
+ "NCIH1755_LUNG": "amp",
7205
+ "NCIH1792_LUNG": "amp",
7206
+ "NCIH1838_LUNG": "amp",
7207
+ "NCIH1975_LUNG": "amp",
7208
+ "NCIH2228_LUNG": "amp",
7209
+ "NCIH226_LUNG": "amp",
7210
+ "NCIH2291_LUNG": "amp",
7211
+ "NCIH2444_LUNG": "amp",
7212
+ "NCIH3255_LUNG": "amp",
7213
+ "NCIH522_LUNG": "amp",
7214
+ "NCIH596_LUNG": "amp",
7215
+ "NCIH716_LARGE_INTESTINE": "amp",
7216
+ "NCIH747_LARGE_INTESTINE": "amp",
7217
+ "NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7218
+ "NMCG1_CENTRAL_NERVOUS_SYSTEM": "amp",
7219
+ "NUGC4_STOMACH": "amp",
7220
+ "ONS76_CENTRAL_NERVOUS_SYSTEM": "amp",
7221
+ "OUMS27_BONE": "amp",
7222
+ "OV90_OVARY": "deep_del",
7223
+ "OVCAR5_OVARY": "amp",
7224
+ "OVMANA_OVARY": "amp",
7225
+ "P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7226
+ "PANC0327_PANCREAS": "deep_del",
7227
+ "PECAPJ34CLONEC12_UPPER_AERODIGESTIVE_TRACT": "amp",
7228
+ "PK45H_PANCREAS": "amp",
7229
+ "RERFLCAD2_LUNG": "amp",
7230
+ "RH18_SOFT_TISSUE": "amp",
7231
+ "RMUGS_OVARY": "amp",
7232
+ "RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7233
+ "SCC15_UPPER_AERODIGESTIVE_TRACT": "amp",
7234
+ "SCC4_UPPER_AERODIGESTIVE_TRACT": "amp",
7235
+ "SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7236
+ "SF539_CENTRAL_NERVOUS_SYSTEM": "amp",
7237
+ "SKBR3_BREAST": "amp",
7238
+ "SKCO1_LARGE_INTESTINE": "deep_del",
7239
+ "SKMEL2_SKIN": "deep_del",
7240
+ "SKMEL31_SKIN": "amp",
7241
+ "SKMEL3_SKIN": "amp",
7242
+ "SKMES1_LUNG": "amp",
7243
+ "SKOV3_OVARY": "deep_del",
7244
+ "SNU1079_BILIARY_TRACT": "amp",
7245
+ "SNU349_KIDNEY": "amp",
7246
+ "SNU410_PANCREAS": "amp",
7247
+ "SNU466_CENTRAL_NERVOUS_SYSTEM": "amp",
7248
+ "SNU489_CENTRAL_NERVOUS_SYSTEM": "amp",
7249
+ "SNU520_STOMACH": "amp",
7250
+ "SNU5_STOMACH": "amp",
7251
+ "SNU626_CENTRAL_NERVOUS_SYSTEM": "amp",
7252
+ "SNU719_STOMACH": "amp",
7253
+ "SNU761_LIVER": "amp",
7254
+ "SNU878_LIVER": "amp",
7255
+ "SNU886_LIVER": "amp",
7256
+ "SW1116_LARGE_INTESTINE": "amp",
7257
+ "SW579_THYROID": "amp",
7258
+ "T3M4_PANCREAS": "amp",
7259
+ "T84_LARGE_INTESTINE": "amp",
7260
+ "TE1_OESOPHAGUS": "amp",
7261
+ "TE4_OESOPHAGUS": "amp",
7262
+ "TT_OESOPHAGUS": "amp",
7263
+ "TUHR10TKB_KIDNEY": "amp",
7264
+ "TUHR14TKB_KIDNEY": "amp",
7265
+ "U2OS_BONE": "amp",
7266
+ "U343_CENTRAL_NERVOUS_SYSTEM": "amp",
7267
+ "VMRCRCZ_KIDNEY": "amp",
7268
+ "WM115_SKIN": "amp",
7269
+ "WM793_SKIN": "amp",
7270
+ "X647V_URINARY_TRACT": "amp",
7271
+ "YH13_CENTRAL_NERVOUS_SYSTEM": "amp",
7272
+ "YMB1_BREAST": "amp",
7273
+ "ZR751_BREAST": "amp"
7274
+ },
7275
+ "RAD51C": {
7276
+ "AU565_BREAST": "deep_del",
7277
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "amp",
7278
+ "BT474_BREAST": "amp",
7279
+ "CAKI1_KIDNEY": "amp",
7280
+ "CHP126_AUTONOMIC_GANGLIA": "amp",
7281
+ "CHP212_AUTONOMIC_GANGLIA": "amp",
7282
+ "CL11_LARGE_INTESTINE": "deep_del",
7283
+ "COV504_OVARY": "amp",
7284
+ "EFM19_BREAST": "amp",
7285
+ "EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7286
+ "HCC1171_LUNG": "amp",
7287
+ "HCC1428_BREAST": "amp",
7288
+ "HCC1897_LUNG": "amp",
7289
+ "HCC2218_BREAST": "amp",
7290
+ "HCC38_BREAST": "amp",
7291
+ "HS821T_BONE": "deep_del",
7292
+ "IMR32_AUTONOMIC_GANGLIA": "amp",
7293
+ "JHOM2B_OVARY": "deep_del",
7294
+ "KPL1_BREAST": "amp",
7295
+ "MCF7_BREAST": "amp",
7296
+ "MDAMB361_BREAST": "amp",
7297
+ "MDAMB453_BREAST": "deep_del",
7298
+ "MELJUSO_SKIN": "amp",
7299
+ "NCIH1184_LUNG": "amp",
7300
+ "NCIH1385_LUNG": "amp",
7301
+ "NCIH1693_LUNG": "amp",
7302
+ "NCIH522_LUNG": "amp",
7303
+ "NUGC4_STOMACH": "amp",
7304
+ "OVKATE_OVARY": "amp",
7305
+ "PANC0203_PANCREAS": "amp",
7306
+ "PANC1005_PANCREAS": "deep_del",
7307
+ "PL45_PANCREAS": "deep_del",
7308
+ "RERFLCAI_LUNG": "deep_del",
7309
+ "RMGI_OVARY": "amp",
7310
+ "S117_SOFT_TISSUE": "amp",
7311
+ "SIMA_AUTONOMIC_GANGLIA": "amp",
7312
+ "SKBR3_BREAST": "deep_del",
7313
+ "SNU685_ENDOMETRIUM": "amp",
7314
+ "SNU869_BILIARY_TRACT": "amp",
7315
+ "U2OS_BONE": "amp",
7316
+ "WM983B_SKIN": "amp",
7317
+ "ZR751_BREAST": "amp"
7318
+ },
7319
+ "RAD51D": {
7320
+ "A673_BONE": "deep_del",
7321
+ "AU565_BREAST": "deep_del",
7322
+ "COLO678_LARGE_INTESTINE": "amp",
7323
+ "COV504_OVARY": "deep_del",
7324
+ "EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7325
+ "F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7326
+ "HCC1171_LUNG": "amp",
7327
+ "HCC1419_BREAST": "deep_del",
7328
+ "HCC1500_BREAST": "deep_del",
7329
+ "HCC38_BREAST": "amp",
7330
+ "HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7331
+ "HOS_BONE": "deep_del",
7332
+ "HT29_LARGE_INTESTINE": "amp",
7333
+ "HTK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7334
+ "HUPT3_PANCREAS": "deep_del",
7335
+ "JHOM2B_OVARY": "deep_del",
7336
+ "KPL1_BREAST": "deep_del",
7337
+ "KPNYN_AUTONOMIC_GANGLIA": "deep_del",
7338
+ "KURAMOCHI_OVARY": "deep_del",
7339
+ "MCF7_BREAST": "deep_del",
7340
+ "MFE280_ENDOMETRIUM": "deep_del",
7341
+ "MHHES1_BONE": "deep_del",
7342
+ "NCIH1184_LUNG": "amp",
7343
+ "NCIH1299_LUNG": "deep_del",
7344
+ "NCIH1563_LUNG": "amp",
7345
+ "NCIH1915_LUNG": "deep_del",
7346
+ "NCIH2030_LUNG": "amp",
7347
+ "NCIH2196_LUNG": "deep_del",
7348
+ "NCIH2444_LUNG": "deep_del",
7349
+ "NCIH522_LUNG": "amp",
7350
+ "NCIH647_LUNG": "deep_del",
7351
+ "NIHOVCAR3_OVARY": "deep_del",
7352
+ "NUGC4_STOMACH": "amp",
7353
+ "OVKATE_OVARY": "deep_del",
7354
+ "RERFLCAI_LUNG": "deep_del",
7355
+ "SKBR3_BREAST": "deep_del",
7356
+ "SKES1_BONE": "deep_del",
7357
+ "SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7358
+ "SNU119_OVARY": "deep_del",
7359
+ "SQ1_LUNG": "amp",
7360
+ "SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7361
+ "SW1990_PANCREAS": "amp",
7362
+ "TC71_BONE": "deep_del",
7363
+ "TEN_ENDOMETRIUM": "deep_del",
7364
+ "VCAP_PROSTATE": "amp",
7365
+ "X143B_BONE": "deep_del",
7366
+ "ZR7530_BREAST": "deep_del"
7367
+ },
7368
+ "RNF43": {
7369
+ "AU565_BREAST": "deep_del",
7370
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "amp",
7371
+ "BT474_BREAST": "amp",
7372
+ "CAKI1_KIDNEY": "amp",
7373
+ "CHP126_AUTONOMIC_GANGLIA": "amp",
7374
+ "CHP212_AUTONOMIC_GANGLIA": "amp",
7375
+ "CL11_LARGE_INTESTINE": "deep_del",
7376
+ "COV504_OVARY": "amp",
7377
+ "EFM19_BREAST": "amp",
7378
+ "EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "amp",
7379
+ "HCC1171_LUNG": "amp",
7380
+ "HCC1428_BREAST": "amp",
7381
+ "HCC1897_LUNG": "amp",
7382
+ "HCC2218_BREAST": "amp",
7383
+ "HCC38_BREAST": "amp",
7384
+ "HUCCT1_BILIARY_TRACT": "deep_del",
7385
+ "IMR32_AUTONOMIC_GANGLIA": "amp",
7386
+ "JHOM2B_OVARY": "deep_del",
7387
+ "KE39_STOMACH": "deep_del",
7388
+ "KLM1_PANCREAS": "deep_del",
7389
+ "KPL1_BREAST": "amp",
7390
+ "MCF7_BREAST": "amp",
7391
+ "MDAMB361_BREAST": "amp",
7392
+ "MDAMB453_BREAST": "deep_del",
7393
+ "NCIH1184_LUNG": "amp",
7394
+ "NCIH1385_LUNG": "amp",
7395
+ "NCIH1693_LUNG": "amp",
7396
+ "NCIH2405_LUNG": "deep_del",
7397
+ "NCIH522_LUNG": "amp",
7398
+ "NUGC4_STOMACH": "amp",
7399
+ "OVKATE_OVARY": "amp",
7400
+ "PANC0203_PANCREAS": "amp",
7401
+ "PANC1005_PANCREAS": "deep_del",
7402
+ "PK1_PANCREAS": "deep_del",
7403
+ "PL45_PANCREAS": "deep_del",
7404
+ "REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "deep_del",
7405
+ "RERFLCAI_LUNG": "deep_del",
7406
+ "RMGI_OVARY": "amp",
7407
+ "S117_SOFT_TISSUE": "amp",
7408
+ "SIMA_AUTONOMIC_GANGLIA": "amp",
7409
+ "SKBR3_BREAST": "deep_del",
7410
+ "SNU685_ENDOMETRIUM": "amp",
7411
+ "U2OS_BONE": "amp",
7412
+ "WM983B_SKIN": "amp",
7413
+ "ZR751_BREAST": "amp"
7414
+ },
7415
+ "SMAD4": {
7416
+ "A172_CENTRAL_NERVOUS_SYSTEM": "deep_del",
7417
+ "A2058_SKIN": "amp",
7418
+ "A253_SALIVARY_GLAND": "deep_del",
7419
+ "AGS_STOMACH": "deep_del",
7420
+ "ASPC1_PANCREAS": "deep_del",
7421
+ "AU565_BREAST": "deep_del",
7422
+ "BFTC905_URINARY_TRACT": "deep_del",
7423
+ "BHY_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7424
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7425
+ "BICR22_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7426
+ "BICR31_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7427
+ "BT20_BREAST": "deep_del",
7428
+ "BXPC3_PANCREAS": "deep_del",
7429
+ "C2BBE1_LARGE_INTESTINE": "deep_del",
7430
+ "CAL12T_LUNG": "deep_del",
7431
+ "CAL27_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7432
+ "CAL33_UPPER_AERODIGESTIVE_TRACT": "deep_del",
7433
+ "CAOV4_OVARY": "amp",
7434
+ "CAPAN1_PANCREAS": "deep_del",
7435
+ "CFPAC1_PANCREAS": "deep_del",
7436
+ "CH157MN_CENTRAL_NERVOUS_SYSTEM": "deep_del",
7437
+ "CHAGOK1_LUNG": "amp",
7438
+ "CL11_LARGE_INTESTINE": "deep_del",
7439
+ "CL14_LARGE_INTESTINE": "deep_del",
7440
+ "COLO205_LARGE_INTESTINE": "deep_del",
7441
+ "COLO320_LARGE_INTESTINE": "amp",
7442
  "COLO668_LUNG": "amp",
7443
  "COLO678_LARGE_INTESTINE": "deep_del",
7444
  "COLO680N_OESOPHAGUS": "deep_del",
 
7907
  }
7908
  },
7909
  "counts": {
7910
+ "n_cnv_cells": 2735,
7911
+ "n_genes": 29,
7912
+ "n_mutated_cells": 4049,
7913
  "n_samples": 1739
7914
  },
7915
+ "curated_at": "2026-08-05T18:58:59.138112+00:00",
7916
  "genes_assayed": null,
7917
  "modalities": {
7918
  "cnv": true,
 
8398
  "WM983B_SKIN": "missense",
8399
  "WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense"
8400
  },
8401
+ "BARD1": {
8402
+ "22RV1_PROSTATE": "truncating",
8403
+ "2313287_STOMACH": "missense",
8404
+ "AN3CA_ENDOMETRIUM": "missense",
8405
+ "CHLA57_BONE": "missense",
8406
+ "CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8407
+ "CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8408
+ "DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8409
+ "EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8410
+ "EN_ENDOMETRIUM": "missense",
8411
+ "EW7_BONE": "missense",
8412
+ "GIMEN_AUTONOMIC_GANGLIA": "truncating",
8413
+ "HCC1569_BREAST": "missense",
8414
+ "HCC364_LUNG": "missense",
8415
+ "HCC56_LARGE_INTESTINE": "missense",
8416
+ "HCT15_LARGE_INTESTINE": "missense",
8417
+ "HEC108_ENDOMETRIUM": "missense",
8418
+ "HEC251_ENDOMETRIUM": "truncating",
8419
+ "HEC265_ENDOMETRIUM": "missense",
8420
+ "HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8421
+ "HOP62_LUNG": "truncating",
8422
+ "IM95_STOMACH": "truncating",
8423
+ "LC1F_LUNG": "missense",
8424
+ "LC1SQSF_LUNG": "missense",
8425
+ "LC1SQ_LUNG": "missense",
8426
+ "LS411N_LARGE_INTESTINE": "truncating",
8427
+ "M1203273_SKIN": "missense",
8428
+ "MDAMB415_BREAST": "missense",
8429
+ "MDAPCA2B_PROSTATE": "truncating",
8430
+ "MELJUSO_SKIN": "missense",
8431
+ "MERO83_LUNG": "missense",
8432
+ "MFM223_BREAST": "missense",
8433
+ "MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8434
+ "MM426_SKIN": "missense",
8435
+ "NCIH1648_LUNG": "missense",
8436
+ "NCIH1930_LUNG": "missense",
8437
+ "NCIH23_LUNG": "missense",
8438
+ "NCIH2882_LUNG": "missense",
8439
+ "NCIH510_LUNG": "missense",
8440
+ "OC314_OVARY": "missense",
8441
+ "OC316_OVARY": "missense",
8442
+ "OCUBM_BREAST": "missense",
8443
+ "OVK18_OVARY": "missense",
8444
+ "PACADD137_PANCREAS": "missense",
8445
+ "RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8446
+ "RERFLCAI_LUNG": "missense",
8447
+ "RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8448
+ "SAOS2_BONE": "missense",
8449
+ "SNU1040_LARGE_INTESTINE": "truncating",
8450
+ "SNU216_STOMACH": "missense",
8451
+ "SNU478_BILIARY_TRACT": "missense",
8452
+ "SNU81_LARGE_INTESTINE": "missense",
8453
+ "SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8454
+ "TGBC1TKB_BILIARY_TRACT": "missense",
8455
+ "TT2609C02_THYROID": "missense",
8456
+ "U118MG_CENTRAL_NERVOUS_SYSTEM": "missense",
8457
+ "UACC257_SKIN": "missense",
8458
+ "WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8459
+ "YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense"
8460
+ },
8461
+ "BRCA1": {
8462
+ "253JBV_URINARY_TRACT": "missense",
8463
+ "253J_URINARY_TRACT": "missense",
8464
+ "BFTC905_URINARY_TRACT": "missense",
8465
+ "BHY_UPPER_AERODIGESTIVE_TRACT": "truncating",
8466
+ "BT16_SOFT_TISSUE": "missense",
8467
  "CCK81_LARGE_INTESTINE": "missense",
8468
  "CJM_SKIN": "missense",
8469
  "COGN278_AUTONOMIC_GANGLIA": "missense",
 
8742
  "YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8743
  "ZR7530_BREAST": "missense"
8744
  },
8745
+ "BRIP1": {
8746
+ "253JBV_URINARY_TRACT": "missense",
8747
+ "42MGBA_CENTRAL_NERVOUS_SYSTEM": "truncating",
8748
+ "451LU_SKIN": "missense",
8749
+ "639V_URINARY_TRACT": "missense",
8750
+ "BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8751
+ "CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8752
+ "CH157MN_CENTRAL_NERVOUS_SYSTEM": "missense",
8753
+ "CHAGOK1_LUNG": "missense",
8754
+ "CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8755
+ "COLO668_LUNG": "missense",
8756
+ "COLO699_LUNG": "missense",
8757
+ "CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8758
+ "CW2_LARGE_INTESTINE": "missense",
8759
+ "DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8760
+ "DU145_PROSTATE": "missense",
8761
+ "EGI1_BILIARY_TRACT": "missense",
8762
+ "EW3_BONE": "missense",
8763
+ "GCIY_STOMACH": "missense",
8764
+ "GP5D_LARGE_INTESTINE": "truncating",
8765
+ "GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8766
+ "HCC1599_BREAST": "missense",
8767
+ "HCC1599_MATCHED_NORMAL_TISSUE": "missense",
8768
+ "HEC108_ENDOMETRIUM": "missense",
8769
+ "HEC151_ENDOMETRIUM": "missense",
8770
+ "HEC251_ENDOMETRIUM": "missense",
8771
+ "HEC265_ENDOMETRIUM": "missense",
8772
+ "HEC59_ENDOMETRIUM": "truncating",
8773
+ "HOP92_LUNG": "missense",
8774
+ "HSC2_UPPER_AERODIGESTIVE_TRACT": "missense",
8775
+ "HT115_LARGE_INTESTINE": "missense",
8776
+ "JHH1_LIVER": "truncating",
8777
+ "JHOM1_OVARY": "truncating",
8778
+ "K2_SKIN": "missense",
8779
+ "KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8780
+ "KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8781
+ "KELLY_AUTONOMIC_GANGLIA": "missense",
8782
+ "KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8783
+ "KNS42_CENTRAL_NERVOUS_SYSTEM": "missense",
8784
+ "KYM1_SOFT_TISSUE": "missense",
8785
+ "LB373EBV_MATCHED_NORMAL_TISSUE": "missense",
8786
+ "LB373MELD_SKIN": "missense",
8787
+ "LN382_CENTRAL_NERVOUS_SYSTEM": "truncating",
8788
+ "LNCAPCLONEFGC_PROSTATE": "truncating",
8789
+ "LS411N_LARGE_INTESTINE": "truncating",
8790
+ "MDAMB361_BREAST": "missense",
8791
+ "MERO25_LUNG": "missense",
8792
+ "MFM223_BREAST": "missense",
8793
+ "MKN1_STOMACH": "truncating",
8794
+ "MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8795
+ "MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8796
+ "NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8797
+ "NCIH1092_LUNG": "truncating",
8798
+ "NCIH146_LUNG": "missense",
8799
+ "NCIH1573_LUNG": "truncating",
8800
+ "NCIH1648_LUNG": "truncating",
8801
+ "NCIH1836_LUNG": "missense",
8802
+ "NCIH2286_LUNG": "missense",
8803
+ "NCIH23_LUNG": "missense",
8804
+ "NCIH596_LUNG": "missense",
8805
+ "NCIH661_LUNG": "missense",
8806
+ "NCIH740_LUNG": "missense",
8807
+ "NCIH748_LUNG": "missense",
8808
+ "NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
8809
+ "OAW42_OVARY": "missense",
8810
+ "PATU8988S_PANCREAS": "missense",
8811
+ "PATU8988T_PANCREAS": "missense",
8812
+ "RCCMF_KIDNEY": "missense",
8813
+ "RERFLCMS_LUNG": "missense",
8814
+ "RPMI7951_SKIN": "missense",
8815
+ "SISO_CERVIX": "missense",
8816
+ "SLR25_KIDNEY": "missense",
8817
+ "SNGM_ENDOMETRIUM": "missense",
8818
+ "SNU1040_LARGE_INTESTINE": "missense",
8819
+ "SNU1197_LARGE_INTESTINE": "missense",
8820
+ "SNU175_LARGE_INTESTINE": "missense",
8821
+ "SNU349_KIDNEY": "truncating",
8822
+ "SNU81_LARGE_INTESTINE": "truncating",
8823
+ "SNU840_OVARY": "missense",
8824
+ "SNU8_OVARY": "missense",
8825
+ "SNUC1_LARGE_INTESTINE": "missense",
8826
+ "SNUC2A_LARGE_INTESTINE": "missense",
8827
+ "SNUC2B_LARGE_INTESTINE": "missense",
8828
+ "SNUC4_LARGE_INTESTINE": "truncating",
8829
+ "SNUC5_LARGE_INTESTINE": "missense",
8830
+ "SW1271_LUNG": "missense",
8831
+ "SW780_URINARY_TRACT": "truncating",
8832
+ "TE8_OESOPHAGUS": "missense"
8833
+ },
8834
  "CDKN2A": {
8835
  "451LU_SKIN": "truncating",
8836
  "639V_URINARY_TRACT": "truncating",
 
8988
  "WM983B_SKIN": "missense",
8989
  "YD10B_UPPER_AERODIGESTIVE_TRACT": "truncating"
8990
  },
8991
+ "CHEK2": {
8992
+ "2313287_STOMACH": "missense",
8993
+ "BHY_UPPER_AERODIGESTIVE_TRACT": "missense",
8994
+ "C32_SKIN": "truncating",
8995
+ "CCK81_LARGE_INTESTINE": "truncating",
8996
+ "CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
8997
+ "CHLA06ATRT_SOFT_TISSUE": "missense",
8998
+ "COLO320_LARGE_INTESTINE": "missense",
8999
+ "CW2_LARGE_INTESTINE": "truncating",
9000
+ "DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9001
+ "DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9002
+ "DOV13_OVARY": "missense",
9003
+ "EN_ENDOMETRIUM": "missense",
9004
+ "GOTO_AUTONOMIC_GANGLIA": "missense",
9005
+ "GSS_STOMACH": "missense",
9006
+ "HCC1395_MATCHED_NORMAL_TISSUE": "truncating",
9007
+ "HCT116_LARGE_INTESTINE": "missense",
9008
+ "HCT15_LARGE_INTESTINE": "missense",
9009
+ "HEC151_ENDOMETRIUM": "missense",
9010
+ "HEC251_ENDOMETRIUM": "truncating",
9011
+ "HRT18_LARGE_INTESTINE": "missense",
9012
+ "HS294T_SKIN": "missense",
9013
+ "HT115_LARGE_INTESTINE": "missense",
9014
+ "JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9015
+ "JHUEM7_ENDOMETRIUM": "missense",
9016
+ "KM12_LARGE_INTESTINE": "missense",
9017
+ "KMBC2_URINARY_TRACT": "missense",
9018
+ "LNCAPCLONEFGC_PROSTATE": "missense",
9019
+ "LOVO_LARGE_INTESTINE": "truncating",
9020
+ "LS411N_LARGE_INTESTINE": "missense",
9021
+ "MFE296_ENDOMETRIUM": "truncating",
9022
+ "NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9023
+ "NCIH1755_LUNG": "missense",
9024
+ "NCIH1963_LUNG": "missense",
9025
+ "OMC1_CERVIX": "missense",
9026
+ "OSC20_UPPER_AERODIGESTIVE_TRACT": "missense",
9027
+ "RCCJF_KIDNEY": "missense",
9028
+ "SKMEL28_SKIN": "missense",
9029
+ "SNU407_LARGE_INTESTINE": "missense",
9030
+ "SNU520_STOMACH": "truncating",
9031
+ "SNU81_LARGE_INTESTINE": "missense",
9032
+ "SNUC5_LARGE_INTESTINE": "missense",
9033
+ "TE617T_SOFT_TISSUE": "missense",
9034
+ "TE9_OESOPHAGUS": "missense",
9035
+ "UACC812_BREAST": "truncating",
9036
+ "WM1552C_SKIN": "missense"
9037
+ },
9038
  "ELAVL1": {
9039
  "BICR18_UPPER_AERODIGESTIVE_TRACT": "missense",
9040
  "CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
 
9065
  "SNU407_LARGE_INTESTINE": "missense",
9066
  "UMUC3_URINARY_TRACT": "missense"
9067
  },
9068
+ "FANCC": {
9069
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "missense",
9070
+ "CAPAN2_PANCREAS": "missense",
9071
+ "CW2_LARGE_INTESTINE": "missense",
9072
+ "ESS1_ENDOMETRIUM": "missense",
9073
+ "HEC59_ENDOMETRIUM": "truncating",
9074
+ "HT115_LARGE_INTESTINE": "missense",
9075
+ "HUH7_LIVER": "truncating",
9076
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9077
+ "KYSE450_OESOPHAGUS": "missense",
9078
+ "LN229_CENTRAL_NERVOUS_SYSTEM": "missense",
9079
+ "MDAMB415_BREAST": "missense",
9080
+ "MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9081
+ "NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
9082
+ "NB13_AUTONOMIC_GANGLIA": "truncating",
9083
+ "NB5_AUTONOMIC_GANGLIA": "missense",
9084
+ "NBTU110_AUTONOMIC_GANGLIA": "missense",
9085
+ "NCIH2110_LUNG": "missense",
9086
+ "NCIH358_LUNG": "missense",
9087
+ "NCIH661_LUNG": "missense",
9088
+ "OVK18_OVARY": "missense",
9089
+ "REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
9090
+ "RS5_FIBROBLAST": "missense",
9091
+ "SKMEL2_SKIN": "missense",
9092
+ "SKNDZ_AUTONOMIC_GANGLIA": "truncating",
9093
+ "SLR26_KIDNEY": "missense",
9094
+ "SNB75_CENTRAL_NERVOUS_SYSTEM": "missense",
9095
+ "SNU1040_LARGE_INTESTINE": "missense",
9096
+ "SNU387_LIVER": "missense",
9097
+ "SNU407_LARGE_INTESTINE": "truncating",
9098
+ "SNU81_LARGE_INTESTINE": "missense",
9099
+ "SNUC5_LARGE_INTESTINE": "truncating",
9100
+ "SU8686_PANCREAS": "missense",
9101
+ "TOV21G_OVARY": "missense"
9102
+ },
9103
  "GATA6": {
9104
  "A253_SALIVARY_GLAND": "missense",
9105
  "CALU6_LUNG": "missense",
 
10304
  "YD8_UPPER_AERODIGESTIVE_TRACT": "missense",
10305
  "YMB1E_BREAST": "missense"
10306
  },
10307
+ "MLH1": {
10308
+ "639V_URINARY_TRACT": "truncating",
10309
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "missense",
10310
+ "CCK81_LARGE_INTESTINE": "missense",
10311
+ "CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10312
+ "CHLA06ATRT_SOFT_TISSUE": "missense",
10313
+ "CL34_LARGE_INTESTINE": "missense",
10314
+ "COLO679_SKIN": "missense",
10315
+ "CORL23_LUNG": "truncating",
10316
+ "CW2_LARGE_INTESTINE": "truncating",
10317
+ "DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10318
+ "DU145_PROSTATE": "truncating",
10319
+ "GB1_CENTRAL_NERVOUS_SYSTEM": "missense",
10320
+ "GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10321
+ "GSU_STOMACH": "truncating",
10322
+ "HCT116_LARGE_INTESTINE": "truncating",
10323
+ "HCT15_LARGE_INTESTINE": "missense",
10324
+ "HEC151_ENDOMETRIUM": "missense",
10325
+ "HEC251_ENDOMETRIUM": "truncating",
10326
+ "HEC265_ENDOMETRIUM": "truncating",
10327
+ "HEC59_ENDOMETRIUM": "missense",
10328
+ "HEC6_ENDOMETRIUM": "truncating",
10329
+ "HEYA8_OVARY": "missense",
10330
+ "HEY_OVARY": "missense",
10331
+ "HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10332
+ "HRT18_LARGE_INTESTINE": "missense",
10333
+ "HS840T_FIBROBLAST": "missense",
10334
+ "HSC4_UPPER_AERODIGESTIVE_TRACT": "missense",
10335
+ "IGR1_SKIN": "missense",
10336
+ "IGROV1_OVARY": "truncating",
10337
+ "KATOIII_STOMACH": "missense",
10338
+ "KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10339
+ "KG1C_CENTRAL_NERVOUS_SYSTEM": "missense",
10340
+ "LIM1215_LARGE_INTESTINE": "truncating",
10341
+ "LN235_CENTRAL_NERVOUS_SYSTEM": "truncating",
10342
+ "LN405_CENTRAL_NERVOUS_SYSTEM": "missense",
10343
+ "LNCAPCLONEFGC_PROSTATE": "missense",
10344
+ "LS180_LARGE_INTESTINE": "missense",
10345
+ "LS411N_LARGE_INTESTINE": "truncating",
10346
+ "MDAMB157_BREAST": "missense",
10347
+ "MELJUSO_SKIN": "truncating",
10348
+ "MEWO_SKIN": "missense",
10349
+ "MIAPACA2_PANCREAS": "missense",
10350
+ "MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10351
+ "MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10352
+ "NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10353
+ "NCIH1573_LUNG": "missense",
10354
+ "NCIH1792_LUNG": "missense",
10355
+ "NCIH2342_LUNG": "missense",
10356
+ "NCIH510_LUNG": "missense",
10357
+ "NCIH630_LARGE_INTESTINE": "truncating",
10358
+ "NCIH660_PROSTATE": "missense",
10359
+ "NCIH716_LARGE_INTESTINE": "missense",
10360
+ "NMCG1_CENTRAL_NERVOUS_SYSTEM": "truncating",
10361
+ "P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10362
+ "PC9_LUNG": "truncating",
10363
+ "PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10364
+ "R262_CENTRAL_NERVOUS_SYSTEM": "truncating",
10365
+ "REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10366
+ "RKO_LARGE_INTESTINE": "missense",
10367
+ "RMGI_OVARY": "missense",
10368
+ "SAOS2_BONE": "missense",
10369
+ "SISO_CERVIX": "truncating",
10370
+ "SNU1040_LARGE_INTESTINE": "truncating",
10371
+ "SNU1_STOMACH": "truncating",
10372
+ "SNU324_PANCREAS": "missense",
10373
+ "SNU349_KIDNEY": "truncating",
10374
+ "SNU81_LARGE_INTESTINE": "missense",
10375
+ "SNUC4_LARGE_INTESTINE": "truncating",
10376
+ "SW1463_LARGE_INTESTINE": "missense",
10377
+ "SW156_KIDNEY": "missense",
10378
+ "TIG3TD_FIBROBLAST": "truncating",
10379
+ "YKG1_CENTRAL_NERVOUS_SYSTEM": "missense"
10380
+ },
10381
+ "MSH2": {
10382
+ "639V_URINARY_TRACT": "missense",
10383
+ "A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10384
+ "A427_LUNG": "missense",
10385
+ "BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10386
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "truncating",
10387
+ "C33A_CERVIX": "truncating",
10388
+ "CCK81_LARGE_INTESTINE": "missense",
10389
+ "CHSA0011_BONE": "truncating",
10390
+ "CL40_LARGE_INTESTINE": "missense",
10391
+ "CP66MEL_SKIN": "missense",
10392
+ "DMS114_LUNG": "missense",
10393
+ "DU145_PROSTATE": "missense",
10394
+ "EFO27_OVARY": "truncating",
10395
+ "GP2D_LARGE_INTESTINE": "truncating",
10396
+ "GP5D_LARGE_INTESTINE": "truncating",
10397
+ "GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10398
+ "HCC1599_BREAST": "missense",
10399
+ "HCC2218_BREAST": "missense",
10400
+ "HEC108_ENDOMETRIUM": "truncating",
10401
+ "HEC251_ENDOMETRIUM": "missense",
10402
+ "HEC59_ENDOMETRIUM": "truncating",
10403
+ "HMVII_SKIN": "truncating",
10404
+ "HRT18_LARGE_INTESTINE": "missense",
10405
+ "HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10406
+ "HUPT3_PANCREAS": "missense",
10407
+ "JHUEM1_ENDOMETRIUM": "truncating",
10408
+ "JHUEM7_ENDOMETRIUM": "missense",
10409
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10410
+ "KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10411
+ "KM12_LARGE_INTESTINE": "missense",
10412
+ "KMH2_THYROID": "missense",
10413
+ "KON_UPPER_AERODIGESTIVE_TRACT": "missense",
10414
+ "LB771HNC_UPPER_AERODIGESTIVE_TRACT": "missense",
10415
+ "LB771PBL_MATCHED_NORMAL_TISSUE": "missense",
10416
+ "LU65_LUNG": "missense",
10417
+ "MFE319_ENDOMETRIUM": "missense",
10418
+ "MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10419
+ "MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10420
+ "MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10421
+ "MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10422
+ "NCIBL128_MATCHED_NORMAL_TISSUE": "missense",
10423
+ "NCIH128_LUNG": "missense",
10424
+ "NCIH1755_LUNG": "missense",
10425
+ "NCIH2286_LUNG": "truncating",
10426
+ "NCIH345_LUNG": "missense",
10427
+ "NCIH522_LUNG": "missense",
10428
+ "NCIH596_LUNG": "missense",
10429
+ "NCIH630_LARGE_INTESTINE": "truncating",
10430
+ "OC314_OVARY": "missense",
10431
+ "OC316_OVARY": "missense",
10432
+ "PCI30_UPPER_AERODIGESTIVE_TRACT": "missense",
10433
+ "PCI38_UPPER_AERODIGESTIVE_TRACT": "missense",
10434
+ "PLCPRF5_LIVER": "missense",
10435
+ "RCCJW_KIDNEY": "truncating",
10436
+ "RERFLCMS_LUNG": "missense",
10437
+ "RL952_ENDOMETRIUM": "truncating",
10438
+ "SISO_CERVIX": "missense",
10439
+ "SKGT4_OESOPHAGUS": "missense",
10440
+ "SKMEL2_SKIN": "missense",
10441
+ "SKUT1_SOFT_TISSUE": "truncating",
10442
+ "SN12C_KIDNEY": "missense",
10443
+ "SNU1040_LARGE_INTESTINE": "missense",
10444
+ "SNU175_LARGE_INTESTINE": "missense",
10445
+ "SNU324_PANCREAS": "missense",
10446
+ "SNU407_LARGE_INTESTINE": "truncating",
10447
+ "SNU601_STOMACH": "missense",
10448
+ "SNU886_LIVER": "missense",
10449
+ "SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10450
+ "SUM159PT_BREAST": "truncating",
10451
+ "SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10452
+ "SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10453
+ "SW1783_CENTRAL_NERVOUS_SYSTEM": "missense",
10454
+ "SW684_SOFT_TISSUE": "missense"
10455
+ },
10456
+ "MSH6": {
10457
+ "639V_URINARY_TRACT": "truncating",
10458
+ "A388_SKIN": "missense",
10459
+ "A704_KIDNEY": "missense",
10460
+ "AU565_BREAST": "missense",
10461
+ "CAKI2_KIDNEY": "missense",
10462
+ "CHL1_SKIN": "missense",
10463
+ "CW2_LARGE_INTESTINE": "missense",
10464
+ "DU145_PROSTATE": "missense",
10465
+ "EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10466
+ "EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10467
+ "EN_ENDOMETRIUM": "missense",
10468
+ "FTC133_THYROID": "truncating",
10469
+ "FTC238_THYROID": "truncating",
10470
+ "GP5D_LARGE_INTESTINE": "missense",
10471
+ "GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10472
+ "HAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10473
+ "HCC1395_BREAST": "missense",
10474
+ "HCC2108_LUNG": "truncating",
10475
+ "HCC2998_LARGE_INTESTINE": "missense",
10476
+ "HCT15_LARGE_INTESTINE": "truncating",
10477
+ "HEC108_ENDOMETRIUM": "missense",
10478
+ "HEC151_ENDOMETRIUM": "missense",
10479
+ "HEC1A_ENDOMETRIUM": "truncating",
10480
+ "HEC1B_ENDOMETRIUM": "truncating",
10481
+ "HEC1_ENDOMETRIUM": "truncating",
10482
+ "HEC251_ENDOMETRIUM": "missense",
10483
+ "HEC59_ENDOMETRIUM": "truncating",
10484
+ "HMCB_SKIN": "missense",
10485
+ "HRT18_LARGE_INTESTINE": "truncating",
10486
+ "HS839T_FIBROBLAST": "missense",
10487
+ "HT115_LARGE_INTESTINE": "truncating",
10488
+ "HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10489
+ "HUG1N_STOMACH": "missense",
10490
+ "HUPT4_PANCREAS": "missense",
10491
+ "ISHIKAWAHERAKLIO02ER_ENDOMETRIUM": "missense",
10492
+ "ISTSL2_LUNG": "missense",
10493
+ "JHUEM2_ENDOMETRIUM": "missense",
10494
+ "JHUEM7_ENDOMETRIUM": "missense",
10495
+ "JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10496
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10497
+ "KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10498
+ "KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10499
+ "KM12_LARGE_INTESTINE": "truncating",
10500
+ "KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10501
+ "KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10502
+ "KNS81FD_CENTRAL_NERVOUS_SYSTEM": "missense",
10503
+ "KNS81_CENTRAL_NERVOUS_SYSTEM": "missense",
10504
+ "KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10505
+ "KPMRTRY_SOFT_TISSUE": "missense",
10506
+ "KPNRTBM1_AUTONOMIC_GANGLIA": "missense",
10507
+ "L33_PANCREAS": "missense",
10508
+ "LB2241EBV_MATCHED_NORMAL_TISSUE": "missense",
10509
+ "LB2241RCC_KIDNEY": "missense",
10510
+ "LN319_CENTRAL_NERVOUS_SYSTEM": "missense",
10511
+ "LU165_LUNG": "missense",
10512
+ "M980513_SKIN": "truncating",
10513
+ "MDAMB157_BREAST": "missense",
10514
+ "MEWO_SKIN": "missense",
10515
+ "MFE296_ENDOMETRIUM": "missense",
10516
+ "MFE319_ENDOMETRIUM": "missense",
10517
+ "MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10518
+ "MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10519
+ "MRKNU1_BREAST": "truncating",
10520
+ "MUGCHOR1_BONE": "missense",
10521
+ "MZ7MEL_SKIN": "missense",
10522
+ "NCIBL128_MATCHED_NORMAL_TISSUE": "missense",
10523
+ "NCIH1155_LUNG": "truncating",
10524
+ "NCIH128_LUNG": "missense",
10525
+ "NCIH1581_LUNG": "missense",
10526
+ "NCIH1781_LUNG": "missense",
10527
+ "NCIH2077_LUNG": "missense",
10528
+ "NCIH510_LUNG": "missense",
10529
+ "NCIH650_LUNG": "missense",
10530
+ "NCIH684_LIVER": "missense",
10531
+ "NCIN87_STOMACH": "missense",
10532
+ "OE19_OESOPHAGUS": "missense",
10533
+ "OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10534
+ "OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10535
+ "OV7_OVARY": "missense",
10536
+ "OVCA433_OVARY": "truncating",
10537
+ "OVCAR8_OVARY": "missense",
10538
+ "PANC0403_PANCREAS": "missense",
10539
+ "PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10540
+ "RERFLCAD2_LUNG": "missense",
10541
+ "RKO_LARGE_INTESTINE": "truncating",
10542
+ "SALE_LUNG": "missense",
10543
+ "SAOS2_BONE": "missense",
10544
+ "SISO_CERVIX": "missense",
10545
+ "SNGM_ENDOMETRIUM": "missense",
10546
+ "SNU1040_LARGE_INTESTINE": "missense",
10547
+ "SNU175_LARGE_INTESTINE": "truncating",
10548
+ "SNU503_LARGE_INTESTINE": "missense",
10549
+ "SNU719_STOMACH": "missense",
10550
+ "SNU81_LARGE_INTESTINE": "truncating",
10551
+ "SNUC4_LARGE_INTESTINE": "missense",
10552
+ "SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10553
+ "SYO1_SOFT_TISSUE": "missense",
10554
+ "TFK1_BILIARY_TRACT": "missense",
10555
+ "TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10556
+ "U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense"
10557
+ },
10558
  "MYC": {
10559
  "A1207_CENTRAL_NERVOUS_SYSTEM": "missense",
10560
  "A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
 
10698
  "UMUC6_URINARY_TRACT": "missense",
10699
  "VMRCMELG_SKIN": "missense"
10700
  },
10701
+ "PMS2": {
10702
+ "BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10703
+ "CHLA32_BONE": "missense",
10704
+ "CJM_SKIN": "missense",
10705
+ "CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10706
+ "COLO201_LARGE_INTESTINE": "missense",
10707
+ "COLO205_LARGE_INTESTINE": "missense",
10708
+ "CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10709
+ "DU145_PROSTATE": "missense",
10710
+ "EFE184_ENDOMETRIUM": "missense",
10711
+ "EN_ENDOMETRIUM": "truncating",
10712
+ "ESO51_OESOPHAGUS": "missense",
10713
+ "GP2D_LARGE_INTESTINE": "missense",
10714
+ "GP5D_LARGE_INTESTINE": "missense",
10715
+ "HCC2998_LARGE_INTESTINE": "missense",
10716
+ "HEC1A_ENDOMETRIUM": "truncating",
10717
+ "HEC1B_ENDOMETRIUM": "truncating",
10718
+ "HEC1_ENDOMETRIUM": "truncating",
10719
+ "HEC6_ENDOMETRIUM": "truncating",
10720
+ "HT115_LARGE_INTESTINE": "missense",
10721
+ "ISHIKAWAHERAKLIO02ER_ENDOMETRIUM": "missense",
10722
+ "JHU029_UPPER_AERODIGESTIVE_TRACT": "missense",
10723
+ "KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10724
+ "KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10725
+ "LB1047EBV_MATCHED_NORMAL_TISSUE": "truncating",
10726
+ "LB1047RCC_KIDNEY": "truncating",
10727
+ "MDAMB453_BREAST": "missense",
10728
+ "MFE319_ENDOMETRIUM": "truncating",
10729
+ "MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10730
+ "MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10731
+ "MOT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10732
+ "NCCIT_TESTIS": "missense",
10733
+ "NCIH1341_LUNG": "missense",
10734
+ "NCIH187_LUNG": "truncating",
10735
+ "NCIH2196_LUNG": "missense",
10736
+ "NCIH2342_LUNG": "missense",
10737
+ "NCIH23_LUNG": "missense",
10738
+ "NCIH520_LUNG": "missense",
10739
+ "NCIH69_LUNG": "truncating",
10740
+ "NUGC2_STOMACH": "missense",
10741
+ "P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10742
+ "PL18_PANCREAS": "missense",
10743
+ "REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10744
+ "RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10745
+ "SBC1_LUNG": "missense",
10746
+ "SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10747
+ "SKMEL31_SKIN": "missense",
10748
+ "SKNDZ_AUTONOMIC_GANGLIA": "missense",
10749
+ "SKUT1_SOFT_TISSUE": "truncating",
10750
+ "SNU1040_LARGE_INTESTINE": "missense",
10751
+ "SNU46_UPPER_AERODIGESTIVE_TRACT": "missense",
10752
+ "SNU886_LIVER": "missense",
10753
+ "SNUC4_LARGE_INTESTINE": "truncating",
10754
+ "SNUC5_LARGE_INTESTINE": "missense",
10755
+ "SW1116_LARGE_INTESTINE": "truncating",
10756
+ "SW1271_LUNG": "missense"
10757
+ },
10758
+ "RAD51C": {
10759
+ "253JBV_URINARY_TRACT": "missense",
10760
+ "253J_URINARY_TRACT": "missense",
10761
+ "ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "truncating",
10762
+ "DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10763
+ "EFO27_OVARY": "missense",
10764
+ "EN_ENDOMETRIUM": "missense",
10765
+ "HCC1359_LUNG": "missense",
10766
+ "HEC151_ENDOMETRIUM": "missense",
10767
+ "HEC59_ENDOMETRIUM": "truncating",
10768
+ "HKA1_SKIN": "missense",
10769
+ "HS834T_FIBROBLAST": "missense",
10770
+ "HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10771
+ "JAR_PLACENTA": "missense",
10772
+ "JHUEM7_ENDOMETRIUM": "missense",
10773
+ "JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10774
+ "L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10775
+ "LMSU_STOMACH": "missense",
10776
+ "NCIH2731_PLEURA": "missense",
10777
+ "PANC0403_PANCREAS": "missense",
10778
+ "SBC3_LUNG": "missense",
10779
+ "SF172_CENTRAL_NERVOUS_SYSTEM": "missense",
10780
+ "SNU1_STOMACH": "missense",
10781
+ "SNU81_LARGE_INTESTINE": "truncating",
10782
+ "SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense"
10783
+ },
10784
+ "RAD51D": {
10785
+ "BICR18_UPPER_AERODIGESTIVE_TRACT": "missense",
10786
+ "EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10787
+ "EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10788
+ "HEC108_ENDOMETRIUM": "missense",
10789
+ "HMEL_BREAST": "missense",
10790
+ "HT115_LARGE_INTESTINE": "missense",
10791
+ "KYAE1_OESOPHAGUS": "truncating",
10792
+ "MET2B": "missense",
10793
+ "MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10794
+ "MPP89_PLEURA": "truncating",
10795
+ "NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10796
+ "NCIH2009_LUNG": "missense",
10797
+ "NCIH358_LUNG": "missense",
10798
+ "RERFLCFM_LUNG": "truncating",
10799
+ "SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "missense",
10800
+ "SNU1040_LARGE_INTESTINE": "truncating",
10801
+ "TUHR4TKB_KIDNEY": "missense"
10802
+ },
10803
  "RNF43": {
10804
  "2313287_STOMACH": "truncating",
10805
  "A704_KIDNEY": "missense",
 
12047
  "BRCA1",
12048
  "BRCA2",
12049
  "PALB2",
12050
+ "ATM",
12051
+ "RAD51C",
12052
+ "RAD51D",
12053
+ "BRIP1",
12054
+ "BARD1",
12055
+ "CHEK2",
12056
+ "FANCC",
12057
+ "MLH1",
12058
+ "MSH2",
12059
+ "MSH6",
12060
+ "PMS2"
12061
  ],
12062
  "profiled": {
12063
  "cnv": [
 
15138
  "ATM\tVMCUB1_URINARY_TRACT": "ATM L243W",
15139
  "ATM\tWM983B_SKIN": "ATM G2675R",
15140
  "ATM\tWSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ATM A1090T",
15141
+ "BARD1\t22RV1_PROSTATE": "BARD1 K596Nfs*9",
15142
+ "BARD1\t2313287_STOMACH": "BARD1 A35T",
15143
+ "BARD1\tAN3CA_ENDOMETRIUM": "BARD1 K292E",
15144
+ "BARD1\tCHLA57_BONE": "BARD1 Q206K",
15145
+ "BARD1\tCMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 R322C",
15146
+ "BARD1\tCTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 Q177*",
15147
+ "BARD1\tDG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 P353H",
15148
+ "BARD1\tEJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 T598N",
15149
+ "BARD1\tEN_ENDOMETRIUM": "BARD1 L479F",
15150
+ "BARD1\tEW7_BONE": "BARD1 E27Q",
15151
+ "BARD1\tGIMEN_AUTONOMIC_GANGLIA": "BARD1 K596Vfs*3",
15152
+ "BARD1\tHCC1569_BREAST": "BARD1 V695A",
15153
+ "BARD1\tHCC364_LUNG": "BARD1 E67K",
15154
+ "BARD1\tHCC56_LARGE_INTESTINE": "BARD1 D440N",
15155
+ "BARD1\tHCT15_LARGE_INTESTINE": "BARD1 A724T",
15156
+ "BARD1\tHEC108_ENDOMETRIUM": "BARD1 P654S",
15157
+ "BARD1\tHEC251_ENDOMETRIUM": "BARD1 E225*",
15158
+ "BARD1\tHEC265_ENDOMETRIUM": "BARD1 P331S",
15159
+ "BARD1\tHEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 Q206K",
15160
+ "BARD1\tHOP62_LUNG": "BARD1 W629*",
15161
+ "BARD1\tIM95_STOMACH": "BARD1 K208Rfs*4",
15162
+ "BARD1\tLC1F_LUNG": "BARD1 A262S",
15163
+ "BARD1\tLC1SQSF_LUNG": "BARD1 A262S",
15164
+ "BARD1\tLC1SQ_LUNG": "BARD1 A262S",
15165
+ "BARD1\tLS411N_LARGE_INTESTINE": "BARD1 P747Qfs*18",
15166
+ "BARD1\tM1203273_SKIN": "BARD1 T490N",
15167
+ "BARD1\tMDAMB415_BREAST": "BARD1 L775V",
15168
+ "BARD1\tMDAPCA2B_PROSTATE": "BARD1 D172Mfs*40",
15169
+ "BARD1\tMELJUSO_SKIN": "BARD1 F242del",
15170
+ "BARD1\tMERO83_LUNG": "BARD1 Q206K",
15171
+ "BARD1\tMFM223_BREAST": "BARD1 S339N",
15172
+ "BARD1\tMHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 R529W",
15173
+ "BARD1\tMM426_SKIN": "BARD1 Q206K",
15174
+ "BARD1\tNCIH1648_LUNG": "BARD1 V163L",
15175
+ "BARD1\tNCIH1930_LUNG": "BARD1 P281S",
15176
+ "BARD1\tNCIH23_LUNG": "BARD1 A168T",
15177
+ "BARD1\tNCIH2882_LUNG": "BARD1 G563W",
15178
+ "BARD1\tNCIH510_LUNG": "BARD1 G439R",
15179
+ "BARD1\tOC314_OVARY": "BARD1 E467K",
15180
+ "BARD1\tOC316_OVARY": "BARD1 E467K",
15181
+ "BARD1\tOCUBM_BREAST": "BARD1 R405M",
15182
+ "BARD1\tOVK18_OVARY": "BARD1 G32V",
15183
+ "BARD1\tPACADD137_PANCREAS": "BARD1 E478G",
15184
+ "BARD1\tRCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 V352M",
15185
+ "BARD1\tRERFLCAI_LUNG": "BARD1 P24R",
15186
+ "BARD1\tRPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 K209Efs*5",
15187
+ "BARD1\tSAOS2_BONE": "BARD1 S179L",
15188
+ "BARD1\tSNU1040_LARGE_INTESTINE": "BARD1 D172Mfs*40",
15189
+ "BARD1\tSNU216_STOMACH": "BARD1 S186G",
15190
+ "BARD1\tSNU478_BILIARY_TRACT": "BARD1 Q493H",
15191
+ "BARD1\tSNU81_LARGE_INTESTINE": "BARD1 S121P",
15192
+ "BARD1\tSR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 Q245H",
15193
+ "BARD1\tTGBC1TKB_BILIARY_TRACT": "BARD1 V154F",
15194
+ "BARD1\tTT2609C02_THYROID": "BARD1 D535H",
15195
+ "BARD1\tU118MG_CENTRAL_NERVOUS_SYSTEM": "BARD1 A721T",
15196
+ "BARD1\tUACC257_SKIN": "BARD1 P300L",
15197
+ "BARD1\tWSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 K207*",
15198
+ "BARD1\tYT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BARD1 S186G",
15199
  "BRCA1\t253JBV_URINARY_TRACT": "BRCA1 V1687F",
15200
  "BRCA1\t253J_URINARY_TRACT": "BRCA1 V1687F",
15201
  "BRCA1\tBFTC905_URINARY_TRACT": "BRCA1 D1398N",
 
15239
  "BRCA1\tJHUEM1_ENDOMETRIUM": "BRCA1 S1577P",
15240
  "BRCA1\tJHUEM2_ENDOMETRIUM": "BRCA1 G1710E",
15241
  "BRCA1\tJHUEM7_ENDOMETRIUM": "BRCA1 G275D",
15242
+ "BRCA1\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA1 D1505N",
15243
  "BRCA1\tKCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA1 A1481V",
15244
  "BRCA1\tKE39_STOMACH": "BRCA1 Y1853C",
15245
  "BRCA1\tKM12_LARGE_INTESTINE": "BRCA1 P1579S",
 
15476
  "BRCA2\tVMRCRCZ_KIDNEY": "BRCA2 V726Sfs*25",
15477
  "BRCA2\tYT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRCA2 G2044V",
15478
  "BRCA2\tZR7530_BREAST": "BRCA2 M2322I",
15479
+ "BRIP1\t253JBV_URINARY_TRACT": "BRIP1 E1104Q",
15480
+ "BRIP1\t42MGBA_CENTRAL_NERVOUS_SYSTEM": "BRIP1 R999*",
15481
+ "BRIP1\t451LU_SKIN": "BRIP1 K705N",
15482
+ "BRIP1\t639V_URINARY_TRACT": "BRIP1 G809C",
15483
+ "BRIP1\tBL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 X700_splice",
15484
+ "BRIP1\tCCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 G290V",
15485
+ "BRIP1\tCH157MN_CENTRAL_NERVOUS_SYSTEM": "BRIP1 C350S",
15486
+ "BRIP1\tCHAGOK1_LUNG": "BRIP1 T104I",
15487
+ "BRIP1\tCMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 N1087Kfs*4",
15488
+ "BRIP1\tCOLO668_LUNG": "BRIP1 R356L",
15489
+ "BRIP1\tCOLO699_LUNG": "BRIP1 I259V",
15490
+ "BRIP1\tCTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 S38N",
15491
+ "BRIP1\tCW2_LARGE_INTESTINE": "BRIP1 N933I",
15492
+ "BRIP1\tDG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 S128P",
15493
+ "BRIP1\tDU145_PROSTATE": "BRIP1 T132N",
15494
+ "BRIP1\tEGI1_BILIARY_TRACT": "BRIP1 F934V",
15495
+ "BRIP1\tEW3_BONE": "BRIP1 D802E",
15496
+ "BRIP1\tGCIY_STOMACH": "BRIP1 M29I",
15497
+ "BRIP1\tGP5D_LARGE_INTESTINE": "BRIP1 I983Nfs*19",
15498
+ "BRIP1\tGRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 F417L",
15499
+ "BRIP1\tHCC1599_BREAST": "BRIP1 S861C",
15500
+ "BRIP1\tHCC1599_MATCHED_NORMAL_TISSUE": "BRIP1 S861C",
15501
+ "BRIP1\tHEC108_ENDOMETRIUM": "BRIP1 Q169R",
15502
+ "BRIP1\tHEC151_ENDOMETRIUM": "BRIP1 P23L",
15503
+ "BRIP1\tHEC251_ENDOMETRIUM": "BRIP1 S1007Y",
15504
+ "BRIP1\tHEC265_ENDOMETRIUM": "BRIP1 L477S",
15505
+ "BRIP1\tHEC59_ENDOMETRIUM": "BRIP1 Q645*",
15506
+ "BRIP1\tHOP92_LUNG": "BRIP1 S2F",
15507
+ "BRIP1\tHSC2_UPPER_AERODIGESTIVE_TRACT": "BRIP1 S697T",
15508
+ "BRIP1\tHT115_LARGE_INTESTINE": "BRIP1 R798Q",
15509
+ "BRIP1\tJHH1_LIVER": "BRIP1 R439*",
15510
+ "BRIP1\tJHOM1_OVARY": "BRIP1 N1087Kfs*4",
15511
+ "BRIP1\tK2_SKIN": "BRIP1 D1100E",
15512
+ "BRIP1\tKARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 *1250Qext*1",
15513
+ "BRIP1\tKE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 R762P",
15514
+ "BRIP1\tKELLY_AUTONOMIC_GANGLIA": "BRIP1 S697P",
15515
+ "BRIP1\tKMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 X969_splice",
15516
+ "BRIP1\tKNS42_CENTRAL_NERVOUS_SYSTEM": "BRIP1 G481C",
15517
+ "BRIP1\tKYM1_SOFT_TISSUE": "BRIP1 H107R",
15518
+ "BRIP1\tLB373EBV_MATCHED_NORMAL_TISSUE": "BRIP1 R162Q",
15519
+ "BRIP1\tLB373MELD_SKIN": "BRIP1 R162Q",
15520
+ "BRIP1\tLN382_CENTRAL_NERVOUS_SYSTEM": "BRIP1 T733Nfs*4",
15521
+ "BRIP1\tLNCAPCLONEFGC_PROSTATE": "BRIP1 X306_splice",
15522
+ "BRIP1\tLS411N_LARGE_INTESTINE": "BRIP1 L138Vfs*4",
15523
+ "BRIP1\tMDAMB361_BREAST": "BRIP1 E339K",
15524
+ "BRIP1\tMERO25_LUNG": "BRIP1 R814H",
15525
+ "BRIP1\tMFM223_BREAST": "BRIP1 L717V",
15526
+ "BRIP1\tMKN1_STOMACH": "BRIP1 X700_splice",
15527
+ "BRIP1\tMOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 T1226P",
15528
+ "BRIP1\tMOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 E200K",
15529
+ "BRIP1\tNALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 R762H",
15530
+ "BRIP1\tNCIH1092_LUNG": "BRIP1 R261*",
15531
+ "BRIP1\tNCIH146_LUNG": "BRIP1 C219R",
15532
+ "BRIP1\tNCIH1573_LUNG": "BRIP1 Q869Rfs*28",
15533
+ "BRIP1\tNCIH1648_LUNG": "BRIP1 E726*",
15534
+ "BRIP1\tNCIH1836_LUNG": "BRIP1 T989A",
15535
+ "BRIP1\tNCIH2286_LUNG": "BRIP1 M28I",
15536
+ "BRIP1\tNCIH23_LUNG": "BRIP1 E1054A",
15537
+ "BRIP1\tNCIH596_LUNG": "BRIP1 P727L",
15538
+ "BRIP1\tNCIH661_LUNG": "BRIP1 I843L",
15539
+ "BRIP1\tNCIH740_LUNG": "BRIP1 E936K",
15540
+ "BRIP1\tNCIH748_LUNG": "BRIP1 E1027K",
15541
+ "BRIP1\tNCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "BRIP1 I983Nfs*19",
15542
+ "BRIP1\tOAW42_OVARY": "BRIP1 V497A",
15543
+ "BRIP1\tPATU8988S_PANCREAS": "BRIP1 I275F",
15544
+ "BRIP1\tPATU8988T_PANCREAS": "BRIP1 I275F",
15545
+ "BRIP1\tRCCMF_KIDNEY": "BRIP1 K14N",
15546
+ "BRIP1\tRERFLCMS_LUNG": "BRIP1 N666H",
15547
+ "BRIP1\tRPMI7951_SKIN": "BRIP1 P210H",
15548
+ "BRIP1\tSISO_CERVIX": "BRIP1 F417L",
15549
+ "BRIP1\tSLR25_KIDNEY": "BRIP1 A745T",
15550
+ "BRIP1\tSNGM_ENDOMETRIUM": "BRIP1 V648I",
15551
+ "BRIP1\tSNU1040_LARGE_INTESTINE": "BRIP1 K141E",
15552
+ "BRIP1\tSNU1197_LARGE_INTESTINE": "BRIP1 S38R",
15553
+ "BRIP1\tSNU175_LARGE_INTESTINE": "BRIP1 A89V",
15554
+ "BRIP1\tSNU349_KIDNEY": "BRIP1 N576Ifs*14",
15555
+ "BRIP1\tSNU81_LARGE_INTESTINE": "BRIP1 E387*",
15556
+ "BRIP1\tSNU840_OVARY": "BRIP1 I952V",
15557
+ "BRIP1\tSNU8_OVARY": "BRIP1 D236Y",
15558
+ "BRIP1\tSNUC1_LARGE_INTESTINE": "BRIP1 R1085I",
15559
+ "BRIP1\tSNUC2A_LARGE_INTESTINE": "BRIP1 R707C",
15560
+ "BRIP1\tSNUC2B_LARGE_INTESTINE": "BRIP1 R707C",
15561
+ "BRIP1\tSNUC4_LARGE_INTESTINE": "BRIP1 Y313Ifs*25",
15562
+ "BRIP1\tSNUC5_LARGE_INTESTINE": "BRIP1 S624L",
15563
+ "BRIP1\tSW1271_LUNG": "BRIP1 A745P",
15564
+ "BRIP1\tSW780_URINARY_TRACT": "BRIP1 N576Kfs*2",
15565
+ "BRIP1\tTE8_OESOPHAGUS": "BRIP1 H804Y",
15566
  "CDKN2A\t451LU_SKIN": "CDKN2A E61Gfs*59",
15567
  "CDKN2A\t639V_URINARY_TRACT": "CDKN2A R58*",
15568
  "CDKN2A\t8305C_THYROID": "CDKN2A H66R",
 
15718
  "CDKN2A\tVMRCMELG_SKIN": "CDKN2A X153_splice",
15719
  "CDKN2A\tWM983B_SKIN": "CDKN2A P114L",
15720
  "CDKN2A\tYD10B_UPPER_AERODIGESTIVE_TRACT": "CDKN2A W110*",
15721
+ "CHEK2\t2313287_STOMACH": "CHEK2 D361G",
15722
+ "CHEK2\tBHY_UPPER_AERODIGESTIVE_TRACT": "CHEK2 R521Q",
15723
+ "CHEK2\tC32_SKIN": "CHEK2 S422Vfs*15",
15724
+ "CHEK2\tCCK81_LARGE_INTESTINE": "CHEK2 R132Efs*29",
15725
+ "CHEK2\tCESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "CHEK2 I189V",
15726
+ "CHEK2\tCHLA06ATRT_SOFT_TISSUE": "CHEK2 R346H",
15727
+ "CHEK2\tCOLO320_LARGE_INTESTINE": "CHEK2 K373E",
15728
+ "CHEK2\tCW2_LARGE_INTESTINE": "CHEK2 X198_splice",
15729
+ "CHEK2\tDAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "CHEK2 A215E",
15730
+ "CHEK2\tDND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "CHEK2 A91T",
15731
+ "CHEK2\tDOV13_OVARY": "CHEK2 D490E",
15732
+ "CHEK2\tEN_ENDOMETRIUM": "CHEK2 G529S",
15733
+ "CHEK2\tGOTO_AUTONOMIC_GANGLIA": "CHEK2 S505T",
15734
+ "CHEK2\tGSS_STOMACH": "CHEK2 T225S",
15735
+ "CHEK2\tHCC1395_MATCHED_NORMAL_TISSUE": "CHEK2 R523Vfs*43",
15736
+ "CHEK2\tHCT116_LARGE_INTESTINE": "CHEK2 L355P",
15737
+ "CHEK2\tHCT15_LARGE_INTESTINE": "CHEK2 R145W",
15738
+ "CHEK2\tHEC151_ENDOMETRIUM": "CHEK2 S505T",
15739
+ "CHEK2\tHEC251_ENDOMETRIUM": "CHEK2 E275*",
15740
+ "CHEK2\tHRT18_LARGE_INTESTINE": "CHEK2 R145W",
15741
+ "CHEK2\tHS294T_SKIN": "CHEK2 D490E",
15742
+ "CHEK2\tHT115_LARGE_INTESTINE": "CHEK2 N290T",
15743
+ "CHEK2\tJEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "CHEK2 V175A",
15744
+ "CHEK2\tJHUEM7_ENDOMETRIUM": "CHEK2 N110H",
15745
+ "CHEK2\tKM12_LARGE_INTESTINE": "CHEK2 V109A",
15746
+ "CHEK2\tKMBC2_URINARY_TRACT": "CHEK2 S435L",
15747
+ "CHEK2\tLNCAPCLONEFGC_PROSTATE": "CHEK2 T387N",
15748
+ "CHEK2\tLOVO_LARGE_INTESTINE": "CHEK2 T389Pfs*25",
15749
+ "CHEK2\tLS411N_LARGE_INTESTINE": "CHEK2 P85H",
15750
+ "CHEK2\tMFE296_ENDOMETRIUM": "CHEK2 F292*",
15751
+ "CHEK2\tNALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "CHEK2 L226F",
15752
+ "CHEK2\tNCIH1755_LUNG": "CHEK2 L512I",
15753
+ "CHEK2\tNCIH1963_LUNG": "CHEK2 S52P",
15754
+ "CHEK2\tOMC1_CERVIX": "CHEK2 E86Q",
15755
+ "CHEK2\tOSC20_UPPER_AERODIGESTIVE_TRACT": "CHEK2 S422T",
15756
+ "CHEK2\tRCCJF_KIDNEY": "CHEK2 K279N",
15757
+ "CHEK2\tSKMEL28_SKIN": "CHEK2 E394K",
15758
+ "CHEK2\tSNU407_LARGE_INTESTINE": "CHEK2 R180H",
15759
+ "CHEK2\tSNU520_STOMACH": "CHEK2 N316Efs*2",
15760
+ "CHEK2\tSNU81_LARGE_INTESTINE": "CHEK2 S73F",
15761
+ "CHEK2\tSNUC5_LARGE_INTESTINE": "CHEK2 F169L",
15762
+ "CHEK2\tTE617T_SOFT_TISSUE": "CHEK2 A230S",
15763
+ "CHEK2\tTE9_OESOPHAGUS": "CHEK2 L226V",
15764
+ "CHEK2\tUACC812_BREAST": "CHEK2 L303*",
15765
+ "CHEK2\tWM1552C_SKIN": "CHEK2 M304V",
15766
  "ELAVL1\tBICR18_UPPER_AERODIGESTIVE_TRACT": "ELAVL1 V193M",
15767
  "ELAVL1\tCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ELAVL1 A204V",
15768
  "ELAVL1\tCMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "ELAVL1 R157Q",
 
15791
  "ELAVL1\tSNU175_LARGE_INTESTINE": "ELAVL1 I276F",
15792
  "ELAVL1\tSNU407_LARGE_INTESTINE": "ELAVL1 H170Y",
15793
  "ELAVL1\tUMUC3_URINARY_TRACT": "ELAVL1 S176C",
15794
+ "FANCC\tBICR18_UPPER_AERODIGESTIVE_TRACT": "FANCC L90V",
15795
+ "FANCC\tCAPAN2_PANCREAS": "FANCC E521K",
15796
+ "FANCC\tCW2_LARGE_INTESTINE": "FANCC G307V",
15797
+ "FANCC\tESS1_ENDOMETRIUM": "FANCC E521K",
15798
+ "FANCC\tHEC59_ENDOMETRIUM": "FANCC X229_splice",
15799
+ "FANCC\tHT115_LARGE_INTESTINE": "FANCC R535C",
15800
+ "FANCC\tHUH7_LIVER": "FANCC R185*",
15801
+ "FANCC\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "FANCC C387R",
15802
+ "FANCC\tKYSE450_OESOPHAGUS": "FANCC R245W",
15803
+ "FANCC\tLN229_CENTRAL_NERVOUS_SYSTEM": "FANCC Q3H",
15804
+ "FANCC\tMDAMB415_BREAST": "FANCC E218K",
15805
+ "FANCC\tMOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "FANCC H256Y",
15806
+ "FANCC\tNALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "FANCC R185Q",
15807
+ "FANCC\tNB13_AUTONOMIC_GANGLIA": "FANCC S119Yfs*8",
15808
+ "FANCC\tNB5_AUTONOMIC_GANGLIA": "FANCC E43K",
15809
+ "FANCC\tNBTU110_AUTONOMIC_GANGLIA": "FANCC R270G",
15810
+ "FANCC\tNCIH2110_LUNG": "FANCC R535C",
15811
+ "FANCC\tNCIH358_LUNG": "FANCC S57C",
15812
+ "FANCC\tNCIH661_LUNG": "FANCC R46G",
15813
+ "FANCC\tOVK18_OVARY": "FANCC E265K",
15814
+ "FANCC\tREH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "FANCC X116_splice",
15815
+ "FANCC\tRS5_FIBROBLAST": "FANCC C10G",
15816
+ "FANCC\tSKMEL2_SKIN": "FANCC E517V",
15817
+ "FANCC\tSKNDZ_AUTONOMIC_GANGLIA": "FANCC X282_splice",
15818
+ "FANCC\tSLR26_KIDNEY": "FANCC P419R",
15819
+ "FANCC\tSNB75_CENTRAL_NERVOUS_SYSTEM": "FANCC L157S",
15820
+ "FANCC\tSNU1040_LARGE_INTESTINE": "FANCC A289V",
15821
+ "FANCC\tSNU387_LIVER": "FANCC T503M",
15822
+ "FANCC\tSNU407_LARGE_INTESTINE": "FANCC I89Ffs*2",
15823
+ "FANCC\tSNU81_LARGE_INTESTINE": "FANCC R555Q",
15824
+ "FANCC\tSNUC5_LARGE_INTESTINE": "FANCC I89Ffs*2",
15825
+ "FANCC\tSU8686_PANCREAS": "FANCC M350V",
15826
+ "FANCC\tTOV21G_OVARY": "FANCC E225K",
15827
  "GATA6\tA253_SALIVARY_GLAND": "GATA6 H331P",
15828
  "GATA6\tCALU6_LUNG": "GATA6 S44F",
15829
  "GATA6\tCHAGOK1_LUNG": "GATA6 G321R",
 
17016
  "KRAS\tYAPC_PANCREAS": "KRAS G12V",
17017
  "KRAS\tYD8_UPPER_AERODIGESTIVE_TRACT": "KRAS G138V",
17018
  "KRAS\tYMB1E_BREAST": "KRAS K117N",
17019
+ "MLH1\t639V_URINARY_TRACT": "MLH1 Q86*",
17020
+ "MLH1\tBICR18_UPPER_AERODIGESTIVE_TRACT": "MLH1 N645S",
17021
+ "MLH1\tCCK81_LARGE_INTESTINE": "MLH1 T117M",
17022
+ "MLH1\tCCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17023
+ "MLH1\tCHLA06ATRT_SOFT_TISSUE": "MLH1 G54V",
17024
+ "MLH1\tCL34_LARGE_INTESTINE": "MLH1 T81I",
17025
+ "MLH1\tCOLO679_SKIN": "MLH1 T598R",
17026
+ "MLH1\tCORL23_LUNG": "MLH1 Y157Lfs*15",
17027
+ "MLH1\tCW2_LARGE_INTESTINE": "MLH1 Y130Sfs*6",
17028
+ "MLH1\tDND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17029
+ "MLH1\tDU145_PROSTATE": "MLH1 X39_splice",
17030
+ "MLH1\tGB1_CENTRAL_NERVOUS_SYSTEM": "MLH1 I262F",
17031
+ "MLH1\tGRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17032
+ "MLH1\tGSU_STOMACH": "MLH1 Y157Lfs*15",
17033
+ "MLH1\tHCT116_LARGE_INTESTINE": "MLH1 S252*",
17034
+ "MLH1\tHCT15_LARGE_INTESTINE": "MLH1 A120S",
17035
+ "MLH1\tHEC151_ENDOMETRIUM": "MLH1 R265S",
17036
+ "MLH1\tHEC251_ENDOMETRIUM": "MLH1 X264_splice",
17037
+ "MLH1\tHEC265_ENDOMETRIUM": "MLH1 K196Nfs*6",
17038
+ "MLH1\tHEC59_ENDOMETRIUM": "MLH1 E102D",
17039
+ "MLH1\tHEC6_ENDOMETRIUM": "MLH1 L366*",
17040
+ "MLH1\tHEYA8_OVARY": "MLH1 L228M",
17041
+ "MLH1\tHEY_OVARY": "MLH1 L228M",
17042
+ "MLH1\tHPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 Q516*",
17043
+ "MLH1\tHRT18_LARGE_INTESTINE": "MLH1 A120S",
17044
+ "MLH1\tHS840T_FIBROBLAST": "MLH1 A31C",
17045
+ "MLH1\tHSC4_UPPER_AERODIGESTIVE_TRACT": "MLH1 E632K",
17046
+ "MLH1\tIGR1_SKIN": "MLH1 R265C",
17047
+ "MLH1\tIGROV1_OVARY": "MLH1 S505Vfs*3",
17048
+ "MLH1\tKATOIII_STOMACH": "MLH1 L582V",
17049
+ "MLH1\tKCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 L259S",
17050
+ "MLH1\tKG1C_CENTRAL_NERVOUS_SYSTEM": "MLH1 I32V",
17051
+ "MLH1\tLIM1215_LARGE_INTESTINE": "MLH1 K196Nfs*6",
17052
+ "MLH1\tLN235_CENTRAL_NERVOUS_SYSTEM": "MLH1 Y157Lfs*15",
17053
+ "MLH1\tLN405_CENTRAL_NERVOUS_SYSTEM": "MLH1 R725C",
17054
+ "MLH1\tLNCAPCLONEFGC_PROSTATE": "MLH1 G189D",
17055
+ "MLH1\tLS180_LARGE_INTESTINE": "MLH1 T117M",
17056
+ "MLH1\tLS411N_LARGE_INTESTINE": "MLH1 R226*",
17057
+ "MLH1\tMDAMB157_BREAST": "MLH1 R205T",
17058
+ "MLH1\tMELJUSO_SKIN": "MLH1 X263_splice",
17059
+ "MLH1\tMEWO_SKIN": "MLH1 R385C",
17060
+ "MLH1\tMIAPACA2_PANCREAS": "MLH1 T270I",
17061
+ "MLH1\tMN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17062
+ "MLH1\tMOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 Y157Lfs*15",
17063
+ "MLH1\tNALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 Y646C",
17064
+ "MLH1\tNCIH1573_LUNG": "MLH1 Q301H",
17065
+ "MLH1\tNCIH1792_LUNG": "MLH1 R18C",
17066
+ "MLH1\tNCIH2342_LUNG": "MLH1 L400V",
17067
+ "MLH1\tNCIH510_LUNG": "MLH1 I262M",
17068
+ "MLH1\tNCIH630_LARGE_INTESTINE": "MLH1 K196Nfs*6",
17069
+ "MLH1\tNCIH660_PROSTATE": "MLH1 G373A",
17070
+ "MLH1\tNCIH716_LARGE_INTESTINE": "MLH1 L434P",
17071
+ "MLH1\tNMCG1_CENTRAL_NERVOUS_SYSTEM": "MLH1 Y157Lfs*15",
17072
+ "MLH1\tP30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17073
+ "MLH1\tPC9_LUNG": "MLH1 L104Wfs*4",
17074
+ "MLH1\tPLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 Y157Lfs*15",
17075
+ "MLH1\tR262_CENTRAL_NERVOUS_SYSTEM": "MLH1 X295_splice",
17076
+ "MLH1\tREH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MLH1 X264_splice",
17077
+ "MLH1\tRKO_LARGE_INTESTINE": "MLH1 L323M",
17078
+ "MLH1\tRMGI_OVARY": "MLH1 R10L",
17079
+ "MLH1\tSAOS2_BONE": "MLH1 V201A",
17080
+ "MLH1\tSISO_CERVIX": "MLH1 X264_splice",
17081
+ "MLH1\tSNU1040_LARGE_INTESTINE": "MLH1 X577_splice",
17082
+ "MLH1\tSNU1_STOMACH": "MLH1 R226*",
17083
+ "MLH1\tSNU324_PANCREAS": "MLH1 C233R",
17084
+ "MLH1\tSNU349_KIDNEY": "MLH1 W712Gfs*71",
17085
+ "MLH1\tSNU81_LARGE_INTESTINE": "MLH1 Y646D",
17086
+ "MLH1\tSNUC4_LARGE_INTESTINE": "MLH1 X264_splice",
17087
+ "MLH1\tSW1463_LARGE_INTESTINE": "MLH1 L434P",
17088
+ "MLH1\tSW156_KIDNEY": "MLH1 Y610_E613del",
17089
+ "MLH1\tTIG3TD_FIBROBLAST": "MLH1 X151_splice",
17090
+ "MLH1\tYKG1_CENTRAL_NERVOUS_SYSTEM": "MLH1 V16L",
17091
+ "MSH2\t639V_URINARY_TRACT": "MSH2 P868L",
17092
+ "MSH2\tA3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 R711*",
17093
+ "MSH2\tA427_LUNG": "MSH2 I584V",
17094
+ "MSH2\tBC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 V605I",
17095
+ "MSH2\tBICR18_UPPER_AERODIGESTIVE_TRACT": "MSH2 X669_splice",
17096
+ "MSH2\tC33A_CERVIX": "MSH2 S860*",
17097
+ "MSH2\tCCK81_LARGE_INTESTINE": "MSH2 L175P",
17098
+ "MSH2\tCHSA0011_BONE": "MSH2 X669_splice",
17099
+ "MSH2\tCL40_LARGE_INTESTINE": "MSH2 R243Q",
17100
+ "MSH2\tCP66MEL_SKIN": "MSH2 C822F",
17101
+ "MSH2\tDMS114_LUNG": "MSH2 Q910K",
17102
+ "MSH2\tDU145_PROSTATE": "MSH2 L736I",
17103
+ "MSH2\tEFO27_OVARY": "MSH2 X426_splice",
17104
+ "MSH2\tGP2D_LARGE_INTESTINE": "MSH2 R383*",
17105
+ "MSH2\tGP5D_LARGE_INTESTINE": "MSH2 R383*",
17106
+ "MSH2\tGRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 Y563H",
17107
+ "MSH2\tHCC1599_BREAST": "MSH2 S723F",
17108
+ "MSH2\tHCC2218_BREAST": "MSH2 E467K",
17109
+ "MSH2\tHEC108_ENDOMETRIUM": "MSH2 Y656Tfs*29",
17110
+ "MSH2\tHEC251_ENDOMETRIUM": "MSH2 D91Y",
17111
+ "MSH2\tHEC59_ENDOMETRIUM": "MSH2 R482Sfs*7",
17112
+ "MSH2\tHMVII_SKIN": "MSH2 Q337*",
17113
+ "MSH2\tHRT18_LARGE_INTESTINE": "MSH2 A600V",
17114
+ "MSH2\tHT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 V606del",
17115
+ "MSH2\tHUPT3_PANCREAS": "MSH2 M688I",
17116
+ "MSH2\tJHUEM1_ENDOMETRIUM": "MSH2 L326Gfs*6",
17117
+ "MSH2\tJHUEM7_ENDOMETRIUM": "MSH2 D91Y",
17118
+ "MSH2\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 R711*",
17119
+ "MSH2\tKARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 G221V",
17120
+ "MSH2\tKM12_LARGE_INTESTINE": "MSH2 R308K",
17121
+ "MSH2\tKMH2_THYROID": "MSH2 S124F",
17122
+ "MSH2\tKON_UPPER_AERODIGESTIVE_TRACT": "MSH2 N354S",
17123
+ "MSH2\tLB771HNC_UPPER_AERODIGESTIVE_TRACT": "MSH2 K249T",
17124
+ "MSH2\tLB771PBL_MATCHED_NORMAL_TISSUE": "MSH2 K249T",
17125
+ "MSH2\tLU65_LUNG": "MSH2 M688I",
17126
+ "MSH2\tMFE319_ENDOMETRIUM": "MSH2 M663T",
17127
+ "MSH2\tMHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 S554N",
17128
+ "MSH2\tMOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 P837T",
17129
+ "MSH2\tMOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 R711*",
17130
+ "MSH2\tMOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 R711*",
17131
+ "MSH2\tNCIBL128_MATCHED_NORMAL_TISSUE": "MSH2 N331D",
17132
+ "MSH2\tNCIH128_LUNG": "MSH2 N331D",
17133
+ "MSH2\tNCIH1755_LUNG": "MSH2 R382H",
17134
+ "MSH2\tNCIH2286_LUNG": "MSH2 X315_splice",
17135
+ "MSH2\tNCIH345_LUNG": "MSH2 F22L",
17136
+ "MSH2\tNCIH522_LUNG": "MSH2 D352H",
17137
+ "MSH2\tNCIH596_LUNG": "MSH2 F19L",
17138
+ "MSH2\tNCIH630_LARGE_INTESTINE": "MSH2 R680*",
17139
+ "MSH2\tOC314_OVARY": "MSH2 R524P",
17140
+ "MSH2\tOC316_OVARY": "MSH2 R524P",
17141
+ "MSH2\tPCI30_UPPER_AERODIGESTIVE_TRACT": "MSH2 V702M",
17142
+ "MSH2\tPCI38_UPPER_AERODIGESTIVE_TRACT": "MSH2 A640D",
17143
+ "MSH2\tPLCPRF5_LIVER": "MSH2 S860L",
17144
+ "MSH2\tRCCJW_KIDNEY": "MSH2 F85*",
17145
+ "MSH2\tRERFLCMS_LUNG": "MSH2 A733T",
17146
+ "MSH2\tRL952_ENDOMETRIUM": "MSH2 Q215*",
17147
+ "MSH2\tSISO_CERVIX": "MSH2 Y563H",
17148
+ "MSH2\tSKGT4_OESOPHAGUS": "MSH2 I691T",
17149
+ "MSH2\tSKMEL2_SKIN": "MSH2 S723F",
17150
+ "MSH2\tSKUT1_SOFT_TISSUE": "MSH2 T788Sfs*10",
17151
+ "MSH2\tSN12C_KIDNEY": "MSH2 D487E",
17152
+ "MSH2\tSNU1040_LARGE_INTESTINE": "MSH2 A72T",
17153
+ "MSH2\tSNU175_LARGE_INTESTINE": "MSH2 V606A",
17154
+ "MSH2\tSNU324_PANCREAS": "MSH2 F694S",
17155
+ "MSH2\tSNU407_LARGE_INTESTINE": "MSH2 S281*",
17156
+ "MSH2\tSNU601_STOMACH": "MSH2 P5Q",
17157
+ "MSH2\tSNU886_LIVER": "MSH2 A733T",
17158
+ "MSH2\tSR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 M492I",
17159
+ "MSH2\tSUM159PT_BREAST": "MSH2 X426_splice",
17160
+ "MSH2\tSUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 Q429*",
17161
+ "MSH2\tSUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH2 X426_splice",
17162
+ "MSH2\tSW1783_CENTRAL_NERVOUS_SYSTEM": "MSH2 A434V",
17163
+ "MSH2\tSW684_SOFT_TISSUE": "MSH2 L478F",
17164
+ "MSH6\t639V_URINARY_TRACT": "MSH6 L1057fs",
17165
+ "MSH6\tA388_SKIN": "MSH6 S63F",
17166
+ "MSH6\tA704_KIDNEY": "MSH6 A1055T",
17167
+ "MSH6\tAU565_BREAST": "MSH6 S79L",
17168
+ "MSH6\tCAKI2_KIDNEY": "MSH6 S360I",
17169
+ "MSH6\tCHL1_SKIN": "MSH6 S1208F",
17170
+ "MSH6\tCW2_LARGE_INTESTINE": "MSH6 I258T",
17171
+ "MSH6\tDU145_PROSTATE": "MSH6 S1067I",
17172
+ "MSH6\tEB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 R644T",
17173
+ "MSH6\tEB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 R644T",
17174
+ "MSH6\tEN_ENDOMETRIUM": "MSH6 Y937H",
17175
+ "MSH6\tFTC133_THYROID": "MSH6 D1046Tfs*6",
17176
+ "MSH6\tFTC238_THYROID": "MSH6 D1046Tfs*6",
17177
+ "MSH6\tGP5D_LARGE_INTESTINE": "MSH6 A680T",
17178
+ "MSH6\tGRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 R1095H",
17179
+ "MSH6\tHAL01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 V474A",
17180
+ "MSH6\tHCC1395_BREAST": "MSH6 D1255N",
17181
+ "MSH6\tHCC2108_LUNG": "MSH6 E1234Kfs*7",
17182
+ "MSH6\tHCC2998_LARGE_INTESTINE": "MSH6 K885N",
17183
+ "MSH6\tHCT15_LARGE_INTESTINE": "MSH6 L290*",
17184
+ "MSH6\tHEC108_ENDOMETRIUM": "MSH6 I502M",
17185
+ "MSH6\tHEC151_ENDOMETRIUM": "MSH6 R1095H",
17186
+ "MSH6\tHEC1A_ENDOMETRIUM": "MSH6 X1334_splice",
17187
+ "MSH6\tHEC1B_ENDOMETRIUM": "MSH6 X1334_splice",
17188
+ "MSH6\tHEC1_ENDOMETRIUM": "MSH6 X1334_splice",
17189
+ "MSH6\tHEC251_ENDOMETRIUM": "MSH6 K853N",
17190
+ "MSH6\tHEC59_ENDOMETRIUM": "MSH6 X1267_splice",
17191
+ "MSH6\tHMCB_SKIN": "MSH6 S1208F",
17192
+ "MSH6\tHRT18_LARGE_INTESTINE": "MSH6 L290*",
17193
+ "MSH6\tHS839T_FIBROBLAST": "MSH6 H837Q",
17194
+ "MSH6\tHT115_LARGE_INTESTINE": "MSH6 E1322*",
17195
+ "MSH6\tHT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 V800A",
17196
+ "MSH6\tHUG1N_STOMACH": "MSH6 P1082S",
17197
+ "MSH6\tHUPT4_PANCREAS": "MSH6 V263M",
17198
+ "MSH6\tISHIKAWAHERAKLIO02ER_ENDOMETRIUM": "MSH6 I1183T",
17199
+ "MSH6\tISTSL2_LUNG": "MSH6 S574L",
17200
+ "MSH6\tJHUEM2_ENDOMETRIUM": "MSH6 G1002D",
17201
+ "MSH6\tJHUEM7_ENDOMETRIUM": "MSH6 E807K",
17202
+ "MSH6\tJK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 G1105Wfs*3",
17203
+ "MSH6\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 M654L",
17204
+ "MSH6\tKARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 R495*",
17205
+ "MSH6\tKG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 K866T",
17206
+ "MSH6\tKM12_LARGE_INTESTINE": "MSH6 F1088Pfs*3",
17207
+ "MSH6\tKMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 D390N",
17208
+ "MSH6\tKMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 S309A",
17209
+ "MSH6\tKNS81FD_CENTRAL_NERVOUS_SYSTEM": "MSH6 M868I",
17210
+ "MSH6\tKNS81_CENTRAL_NERVOUS_SYSTEM": "MSH6 M868I",
17211
+ "MSH6\tKO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 A1050T",
17212
+ "MSH6\tKPMRTRY_SOFT_TISSUE": "MSH6 I710N",
17213
+ "MSH6\tKPNRTBM1_AUTONOMIC_GANGLIA": "MSH6 C1294S",
17214
+ "MSH6\tL33_PANCREAS": "MSH6 R644S",
17215
+ "MSH6\tLB2241EBV_MATCHED_NORMAL_TISSUE": "MSH6 Q475H",
17216
+ "MSH6\tLB2241RCC_KIDNEY": "MSH6 Q475H",
17217
+ "MSH6\tLN319_CENTRAL_NERVOUS_SYSTEM": "MSH6 P673Q",
17218
+ "MSH6\tLU165_LUNG": "MSH6 E755D",
17219
+ "MSH6\tM980513_SKIN": "MSH6 X153_splice",
17220
+ "MSH6\tMDAMB157_BREAST": "MSH6 R644S",
17221
+ "MSH6\tMEWO_SKIN": "MSH6 R1334W",
17222
+ "MSH6\tMFE296_ENDOMETRIUM": "MSH6 A1055V",
17223
+ "MSH6\tMFE319_ENDOMETRIUM": "MSH6 R577H",
17224
+ "MSH6\tMOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 R361H",
17225
+ "MSH6\tMOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 D284Ifs*7",
17226
+ "MSH6\tMRKNU1_BREAST": "MSH6 S612*",
17227
+ "MSH6\tMUGCHOR1_BONE": "MSH6 A339V",
17228
+ "MSH6\tMZ7MEL_SKIN": "MSH6 T1219I",
17229
+ "MSH6\tNCIBL128_MATCHED_NORMAL_TISSUE": "MSH6 I570V",
17230
+ "MSH6\tNCIH1155_LUNG": "MSH6 R911*",
17231
+ "MSH6\tNCIH128_LUNG": "MSH6 I570V",
17232
+ "MSH6\tNCIH1581_LUNG": "MSH6 T1085N",
17233
+ "MSH6\tNCIH1781_LUNG": "MSH6 L1081F",
17234
+ "MSH6\tNCIH2077_LUNG": "MSH6 T1085N",
17235
+ "MSH6\tNCIH510_LUNG": "MSH6 A683S",
17236
+ "MSH6\tNCIH650_LUNG": "MSH6 G39W",
17237
+ "MSH6\tNCIH684_LIVER": "MSH6 R243C",
17238
+ "MSH6\tNCIN87_STOMACH": "MSH6 G624S",
17239
+ "MSH6\tOE19_OESOPHAGUS": "MSH6 V592I",
17240
+ "MSH6\tOPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 H164R",
17241
+ "MSH6\tOPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 H164R",
17242
+ "MSH6\tOV7_OVARY": "MSH6 E1335D",
17243
+ "MSH6\tOVCA433_OVARY": "MSH6 Q4*",
17244
+ "MSH6\tOVCAR8_OVARY": "MSH6 T727S",
17245
+ "MSH6\tPANC0403_PANCREAS": "MSH6 C108S",
17246
+ "MSH6\tPF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 Y1006N",
17247
+ "MSH6\tRERFLCAD2_LUNG": "MSH6 S616C",
17248
+ "MSH6\tRKO_LARGE_INTESTINE": "MSH6 Y1066*",
17249
+ "MSH6\tSALE_LUNG": "MSH6 A81T",
17250
+ "MSH6\tSAOS2_BONE": "MSH6 T716A",
17251
+ "MSH6\tSISO_CERVIX": "MSH6 R1095H",
17252
+ "MSH6\tSNGM_ENDOMETRIUM": "MSH6 T1219I",
17253
+ "MSH6\tSNU1040_LARGE_INTESTINE": "MSH6 T1205I",
17254
+ "MSH6\tSNU175_LARGE_INTESTINE": "MSH6 Y1159*",
17255
+ "MSH6\tSNU503_LARGE_INTESTINE": "MSH6 P1086A",
17256
+ "MSH6\tSNU719_STOMACH": "MSH6 D358E",
17257
+ "MSH6\tSNU81_LARGE_INTESTINE": "MSH6 E948*",
17258
+ "MSH6\tSNUC4_LARGE_INTESTINE": "MSH6 R772W",
17259
+ "MSH6\tSUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 G1105Wfs*3",
17260
+ "MSH6\tSYO1_SOFT_TISSUE": "MSH6 R1024W",
17261
+ "MSH6\tTFK1_BILIARY_TRACT": "MSH6 K646R",
17262
+ "MSH6\tTK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 G237R",
17263
+ "MSH6\tU266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MSH6 G141D",
17264
  "MYC\tA1207_CENTRAL_NERVOUS_SYSTEM": "MYC P134R",
17265
  "MYC\tA3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MYC N451Vfs*6",
17266
  "MYC\tA4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "MYC V7A",
 
17400
  "PALB2\tSNUC1_LARGE_INTESTINE": "PALB2 D277N",
17401
  "PALB2\tUMUC6_URINARY_TRACT": "PALB2 D848N",
17402
  "PALB2\tVMRCMELG_SKIN": "PALB2 P661S",
17403
+ "PMS2\tBC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 E431Q",
17404
+ "PMS2\tCHLA32_BONE": "PMS2 H634R",
17405
+ "PMS2\tCJM_SKIN": "PMS2 E5K",
17406
+ "PMS2\tCMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 A38V",
17407
+ "PMS2\tCOLO201_LARGE_INTESTINE": "PMS2 E504Q",
17408
+ "PMS2\tCOLO205_LARGE_INTESTINE": "PMS2 E504Q",
17409
+ "PMS2\tCTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 S815L",
17410
+ "PMS2\tDU145_PROSTATE": "PMS2 H189Y",
17411
+ "PMS2\tEFE184_ENDOMETRIUM": "PMS2 I273S",
17412
+ "PMS2\tEN_ENDOMETRIUM": "PMS2 R315*",
17413
+ "PMS2\tESO51_OESOPHAGUS": "PMS2 E504G",
17414
+ "PMS2\tGP2D_LARGE_INTESTINE": "PMS2 S403P",
17415
+ "PMS2\tGP5D_LARGE_INTESTINE": "PMS2 S403P",
17416
+ "PMS2\tHCC2998_LARGE_INTESTINE": "PMS2 D286E",
17417
+ "PMS2\tHEC1A_ENDOMETRIUM": "PMS2 R802*",
17418
+ "PMS2\tHEC1B_ENDOMETRIUM": "PMS2 R802*",
17419
+ "PMS2\tHEC1_ENDOMETRIUM": "PMS2 R802*",
17420
+ "PMS2\tHEC6_ENDOMETRIUM": "PMS2 E785*",
17421
+ "PMS2\tHT115_LARGE_INTESTINE": "PMS2 S36N",
17422
+ "PMS2\tISHIKAWAHERAKLIO02ER_ENDOMETRIUM": "PMS2 Q604R",
17423
+ "PMS2\tJHU029_UPPER_AERODIGESTIVE_TRACT": "PMS2 S500C",
17424
+ "PMS2\tKASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 X179_splice",
17425
+ "PMS2\tKHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 H701Qfs*2",
17426
+ "PMS2\tLB1047EBV_MATCHED_NORMAL_TISSUE": "PMS2 G525Rfs*17",
17427
+ "PMS2\tLB1047RCC_KIDNEY": "PMS2 G525Rfs*17",
17428
+ "PMS2\tMDAMB453_BREAST": "PMS2 E710D",
17429
+ "PMS2\tMFE319_ENDOMETRIUM": "PMS2 G466Afs*3",
17430
+ "PMS2\tMOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 E518*",
17431
+ "PMS2\tMOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 X725_splice",
17432
+ "PMS2\tMOT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 K647*",
17433
+ "PMS2\tNCCIT_TESTIS": "PMS2 M600V",
17434
+ "PMS2\tNCIH1341_LUNG": "PMS2 C297S",
17435
+ "PMS2\tNCIH187_LUNG": "PMS2 Q727*",
17436
+ "PMS2\tNCIH2196_LUNG": "PMS2 G779R",
17437
+ "PMS2\tNCIH2342_LUNG": "PMS2 S358F",
17438
+ "PMS2\tNCIH23_LUNG": "PMS2 E491K",
17439
+ "PMS2\tNCIH520_LUNG": "PMS2 D60E",
17440
+ "PMS2\tNCIH69_LUNG": "PMS2 V595*",
17441
+ "PMS2\tNUGC2_STOMACH": "PMS2 M453V",
17442
+ "PMS2\tP31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 R802*",
17443
+ "PMS2\tPL18_PANCREAS": "PMS2 Y313C",
17444
+ "PMS2\tREH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 E76Q",
17445
+ "PMS2\tRS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 R107P",
17446
+ "PMS2\tSBC1_LUNG": "PMS2 K651N",
17447
+ "PMS2\tSEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "PMS2 R134*",
17448
+ "PMS2\tSKMEL31_SKIN": "PMS2 H24Y",
17449
+ "PMS2\tSKNDZ_AUTONOMIC_GANGLIA": "PMS2 Q402K",
17450
+ "PMS2\tSKUT1_SOFT_TISSUE": "PMS2 X180_splice",
17451
+ "PMS2\tSNU1040_LARGE_INTESTINE": "PMS2 A129V",
17452
+ "PMS2\tSNU46_UPPER_AERODIGESTIVE_TRACT": "PMS2 R294Q",
17453
+ "PMS2\tSNU886_LIVER": "PMS2 G480R",
17454
+ "PMS2\tSNUC4_LARGE_INTESTINE": "PMS2 Q174*",
17455
+ "PMS2\tSNUC5_LARGE_INTESTINE": "PMS2 R810S",
17456
+ "PMS2\tSW1116_LARGE_INTESTINE": "PMS2 D414Rfs*44",
17457
+ "PMS2\tSW1271_LUNG": "PMS2 H88Y",
17458
+ "RAD51C\t253JBV_URINARY_TRACT": "RAD51C F229L",
17459
+ "RAD51C\t253J_URINARY_TRACT": "RAD51C F229L",
17460
+ "RAD51C\tALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C X191_splice",
17461
+ "RAD51C\tDOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C P127Q",
17462
+ "RAD51C\tEFO27_OVARY": "RAD51C R368Q",
17463
+ "RAD51C\tEN_ENDOMETRIUM": "RAD51C G264D",
17464
+ "RAD51C\tHCC1359_LUNG": "RAD51C A295G",
17465
+ "RAD51C\tHEC151_ENDOMETRIUM": "RAD51C E161D",
17466
+ "RAD51C\tHEC59_ENDOMETRIUM": "RAD51C Q11*",
17467
+ "RAD51C\tHKA1_SKIN": "RAD51C M136L",
17468
+ "RAD51C\tHS834T_FIBROBLAST": "RAD51C R193Q",
17469
+ "RAD51C\tHT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C L205P",
17470
+ "RAD51C\tJAR_PLACENTA": "RAD51C T283A",
17471
+ "RAD51C\tJHUEM7_ENDOMETRIUM": "RAD51C R260Q",
17472
+ "RAD51C\tJURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C L39I",
17473
+ "RAD51C\tL428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C G112A",
17474
+ "RAD51C\tLMSU_STOMACH": "RAD51C M136L",
17475
+ "RAD51C\tNCIH2731_PLEURA": "RAD51C T283I",
17476
+ "RAD51C\tPANC0403_PANCREAS": "RAD51C R214C",
17477
+ "RAD51C\tSBC3_LUNG": "RAD51C R312W",
17478
+ "RAD51C\tSF172_CENTRAL_NERVOUS_SYSTEM": "RAD51C S331N",
17479
+ "RAD51C\tSNU1_STOMACH": "RAD51C M136L",
17480
+ "RAD51C\tSNU81_LARGE_INTESTINE": "RAD51C R237*",
17481
+ "RAD51C\tSUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51C L134S",
17482
+ "RAD51D\tBICR18_UPPER_AERODIGESTIVE_TRACT": "RAD51D S101A",
17483
+ "RAD51D\tEB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51D G177S",
17484
+ "RAD51D\tEB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51D G177S",
17485
+ "RAD51D\tHEC108_ENDOMETRIUM": "RAD51D V28A",
17486
+ "RAD51D\tHMEL_BREAST": "RAD51D V58A",
17487
+ "RAD51D\tHT115_LARGE_INTESTINE": "RAD51D L211F",
17488
+ "RAD51D\tKYAE1_OESOPHAGUS": "RAD51D X190_splice",
17489
+ "RAD51D\tMET2B": "RAD51D R74Q",
17490
+ "RAD51D\tMHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51D R179H",
17491
+ "RAD51D\tMPP89_PLEURA": "RAD51D M1?",
17492
+ "RAD51D\tNB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51D W156C",
17493
+ "RAD51D\tNCIH2009_LUNG": "RAD51D G177V",
17494
+ "RAD51D\tNCIH358_LUNG": "RAD51D M116I",
17495
+ "RAD51D\tRERFLCFM_LUNG": "RAD51D X111_splice",
17496
+ "RAD51D\tSKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE": "RAD51D T27K",
17497
+ "RAD51D\tSNU1040_LARGE_INTESTINE": "RAD51D W202*",
17498
+ "RAD51D\tTUHR4TKB_KIDNEY": "RAD51D T27K",
17499
  "RNF43\t2313287_STOMACH": "RNF43 G659Vfs*41",
17500
  "RNF43\tA704_KIDNEY": "RNF43 P620S",
17501
  "RNF43\tABC1_LUNG": "RNF43 P391S",
src/resources/curated/paad_cptac_2021.json CHANGED
@@ -288,11 +288,11 @@
288
  "cnv": {},
289
  "counts": {
290
  "n_cnv_cells": 0,
291
- "n_genes": 19,
292
- "n_mutated_cells": 349,
293
  "n_samples": 140
294
  },
295
- "curated_at": "2026-07-29T01:50:19.352710+00:00",
296
  "genes_assayed": null,
297
  "modalities": {
298
  "cnv": false,
@@ -325,6 +325,10 @@
325
  "BRCA2": {
326
  "C3N-02573": "missense"
327
  },
 
 
 
 
328
  "CDKN2A": {
329
  "C3L-00102": "missense",
330
  "C3L-01037": "missense",
@@ -356,9 +360,15 @@
356
  "C3N-03754": "truncating",
357
  "C3N-04119": "missense"
358
  },
 
 
 
359
  "ELAVL1": {
360
  "C3N-01715": "truncating"
361
  },
 
 
 
362
  "GATA6": {
363
  "C3N-01715": "missense"
364
  },
@@ -530,12 +540,21 @@
530
  "C3N-04283": "hotspot",
531
  "C3N-04284": "hotspot"
532
  },
 
 
 
 
 
 
533
  "MYC": {
534
  "C3N-00516": "missense"
535
  },
536
  "PALB2": {
537
  "C3N-03069": "truncating"
538
  },
 
 
 
539
  "RNF43": {
540
  "C3L-02463": "truncating",
541
  "C3L-02604": "truncating",
@@ -707,7 +726,17 @@
707
  "BRCA1",
708
  "BRCA2",
709
  "PALB2",
710
- "ATM"
 
 
 
 
 
 
 
 
 
 
711
  ],
712
  "profiled": {
713
  "mutation": null
@@ -728,6 +757,8 @@
728
  "ATM\tC3N-03840": "ATM T2921R",
729
  "BRCA1\tC3L-02613": "BRCA1 K251M",
730
  "BRCA2\tC3N-02573": "BRCA2 R2842C",
 
 
731
  "CDKN2A\tC3L-00102": "CDKN2A L64_L65del",
732
  "CDKN2A\tC3L-01037": "CDKN2A D84N",
733
  "CDKN2A\tC3L-01051": "CDKN2A L16Pfs*9",
@@ -757,7 +788,9 @@
757
  "CDKN2A\tC3N-03007": "CDKN2A L78Hfs*41",
758
  "CDKN2A\tC3N-03754": "CDKN2A Y44*",
759
  "CDKN2A\tC3N-04119": "CDKN2A L64P",
 
760
  "ELAVL1\tC3N-01715": "ELAVL1 R37*",
 
761
  "GATA6\tC3N-01715": "GATA6 A178_A183del",
762
  "GNAS\tC3L-00928": "GNAS I705S",
763
  "GNAS\tC3L-01051": "GNAS R844C",
@@ -917,8 +950,11 @@
917
  "KRAS\tC3N-04282": "KRAS Q61H",
918
  "KRAS\tC3N-04283": "KRAS G12D",
919
  "KRAS\tC3N-04284": "KRAS Q61R",
 
 
920
  "MYC\tC3N-00516": "MYC S237C",
921
  "PALB2\tC3N-03069": "PALB2 S691Rfs*14",
 
922
  "RNF43\tC3L-02463": "RNF43 Y457Sfs*45",
923
  "RNF43\tC3L-02604": "RNF43 Q344*",
924
  "RNF43\tC3L-02610": "RNF43 R221W",
 
288
  "cnv": {},
289
  "counts": {
290
  "n_cnv_cells": 0,
291
+ "n_genes": 29,
292
+ "n_mutated_cells": 356,
293
  "n_samples": 140
294
  },
295
+ "curated_at": "2026-08-05T18:59:10.182891+00:00",
296
  "genes_assayed": null,
297
  "modalities": {
298
  "cnv": false,
 
325
  "BRCA2": {
326
  "C3N-02573": "missense"
327
  },
328
+ "BRIP1": {
329
+ "C3L-01051": "missense",
330
+ "C3N-01715": "missense"
331
+ },
332
  "CDKN2A": {
333
  "C3L-00102": "missense",
334
  "C3L-01037": "missense",
 
360
  "C3N-03754": "truncating",
361
  "C3N-04119": "missense"
362
  },
363
+ "CHEK2": {
364
+ "C3L-01054": "truncating"
365
+ },
366
  "ELAVL1": {
367
  "C3N-01715": "truncating"
368
  },
369
+ "FANCC": {
370
+ "C3L-00640": "missense"
371
+ },
372
  "GATA6": {
373
  "C3N-01715": "missense"
374
  },
 
540
  "C3N-04283": "hotspot",
541
  "C3N-04284": "hotspot"
542
  },
543
+ "MLH1": {
544
+ "C3N-01715": "missense"
545
+ },
546
+ "MSH6": {
547
+ "C3L-03123": "truncating"
548
+ },
549
  "MYC": {
550
  "C3N-00516": "missense"
551
  },
552
  "PALB2": {
553
  "C3N-03069": "truncating"
554
  },
555
+ "RAD51C": {
556
+ "C3N-03666": "missense"
557
+ },
558
  "RNF43": {
559
  "C3L-02463": "truncating",
560
  "C3L-02604": "truncating",
 
726
  "BRCA1",
727
  "BRCA2",
728
  "PALB2",
729
+ "ATM",
730
+ "RAD51C",
731
+ "RAD51D",
732
+ "BRIP1",
733
+ "BARD1",
734
+ "CHEK2",
735
+ "FANCC",
736
+ "MLH1",
737
+ "MSH2",
738
+ "MSH6",
739
+ "PMS2"
740
  ],
741
  "profiled": {
742
  "mutation": null
 
757
  "ATM\tC3N-03840": "ATM T2921R",
758
  "BRCA1\tC3L-02613": "BRCA1 K251M",
759
  "BRCA2\tC3N-02573": "BRCA2 R2842C",
760
+ "BRIP1\tC3L-01051": "BRIP1 L445F",
761
+ "BRIP1\tC3N-01715": "BRIP1 W816R",
762
  "CDKN2A\tC3L-00102": "CDKN2A L64_L65del",
763
  "CDKN2A\tC3L-01037": "CDKN2A D84N",
764
  "CDKN2A\tC3L-01051": "CDKN2A L16Pfs*9",
 
788
  "CDKN2A\tC3N-03007": "CDKN2A L78Hfs*41",
789
  "CDKN2A\tC3N-03754": "CDKN2A Y44*",
790
  "CDKN2A\tC3N-04119": "CDKN2A L64P",
791
+ "CHEK2\tC3L-01054": "CHEK2 L5*",
792
  "ELAVL1\tC3N-01715": "ELAVL1 R37*",
793
+ "FANCC\tC3L-00640": "FANCC C451Y",
794
  "GATA6\tC3N-01715": "GATA6 A178_A183del",
795
  "GNAS\tC3L-00928": "GNAS I705S",
796
  "GNAS\tC3L-01051": "GNAS R844C",
 
950
  "KRAS\tC3N-04282": "KRAS Q61H",
951
  "KRAS\tC3N-04283": "KRAS G12D",
952
  "KRAS\tC3N-04284": "KRAS Q61R",
953
+ "MLH1\tC3N-01715": "MLH1 T117R",
954
+ "MSH6\tC3L-03123": "MSH6 F1088Pfs*3",
955
  "MYC\tC3N-00516": "MYC S237C",
956
  "PALB2\tC3N-03069": "PALB2 S691Rfs*14",
957
+ "RAD51C\tC3N-03666": "RAD51C D291N",
958
  "RNF43\tC3L-02463": "RNF43 Y457Sfs*45",
959
  "RNF43\tC3L-02604": "RNF43 Q344*",
960
  "RNF43\tC3L-02610": "RNF43 R221W",
src/resources/curated/paad_qcmg_uq_2016.json CHANGED
@@ -920,11 +920,11 @@
920
  "cnv": {},
921
  "counts": {
922
  "n_cnv_cells": 0,
923
- "n_genes": 19,
924
- "n_mutated_cells": 932,
925
  "n_samples": 456
926
  },
927
- "curated_at": "2026-07-28T23:39:47.011537+00:00",
928
  "genes_assayed": null,
929
  "modalities": {
930
  "cnv": false,
@@ -992,6 +992,11 @@
992
  "ICGC_0377": "truncating",
993
  "ICGC_0508": "missense"
994
  },
 
 
 
 
 
995
  "BRCA1": {
996
  "ICGC_0054": "truncating",
997
  "ICGC_0076": "missense",
@@ -1509,6 +1514,9 @@
1509
  "ICGC_0543": "hotspot",
1510
  "ICGC_0549": "hotspot"
1511
  },
 
 
 
1512
  "MYC": {
1513
  "ICGC_0191": "missense"
1514
  },
@@ -1516,6 +1524,10 @@
1516
  "ICGC_0087": "truncating",
1517
  "ICGC_0503": "missense"
1518
  },
 
 
 
 
1519
  "RNF43": {
1520
  "ICGC_0005": "truncating",
1521
  "ICGC_0007": "truncating",
@@ -1922,7 +1934,17 @@
1922
  "BRCA1",
1923
  "BRCA2",
1924
  "PALB2",
1925
- "ATM"
 
 
 
 
 
 
 
 
 
 
1926
  ],
1927
  "profiled": {
1928
  "mutation": [
@@ -2366,6 +2388,9 @@
2366
  "ATM\tICGC_0368": "ATM R3008S",
2367
  "ATM\tICGC_0377": "ATM I326Rfs*3",
2368
  "ATM\tICGC_0508": "ATM R3008C",
 
 
 
2369
  "BRCA1\tICGC_0054": "BRCA1 X1778_splice",
2370
  "BRCA1\tICGC_0076": "BRCA1 Q687P",
2371
  "BRCA1\tICGC_0089": "BRCA1 X183_splice",
@@ -2863,9 +2888,12 @@
2863
  "KRAS\tICGC_0542": "KRAS G12V",
2864
  "KRAS\tICGC_0543": "KRAS G12V",
2865
  "KRAS\tICGC_0549": "KRAS G12I",
 
2866
  "MYC\tICGC_0191": "MYC Q52del",
2867
  "PALB2\tICGC_0087": "PALB2 C768Lfs*82",
2868
  "PALB2\tICGC_0503": "PALB2 A503S",
 
 
2869
  "RNF43\tICGC_0005": "RNF43 L303Ffs*140",
2870
  "RNF43\tICGC_0007": "RNF43 V490Gfs*15",
2871
  "RNF43\tICGC_0008": "RNF43 R330*",
@@ -3709,12 +3737,12 @@
3709
  "study": "paad_qcmg_uq_2016",
3710
  "terms": {
3711
  "access_tier": "open",
3712
- "commercial_use": "no_restriction_found",
3713
  "commercial_use_basis": {
3714
- "confidence": "medium \u2014 no prohibition on open-tier commercial use was found, but no affirmative grant was found either",
3715
  "instrument": "ICGC/ICGC-ARGO E.8.1 Data Access Framework (open tier), E.3, E.4",
3716
  "obligations": "Cite the data source and acknowledge the clinical contributors and ICGC data producers (E.3). E.4 asks users not to claim IP over primary data including somatic mutations, and to license downstream inventions without obstructing further research \u2014 a genuine commercially-relevant obligation. Cite Bailey et al. Nature 2016. Open tier only; controlled tier requires DACO.",
3717
- "reviewed": "2026-07-25",
3718
  "source": "https://www.icgc-argo.org/page/132/e8-data-access-and-data-use-policies-and-guidelines"
3719
  },
3720
  "license": "ODbL (cBioPortal default; upstream per-study terms override it)",
 
920
  "cnv": {},
921
  "counts": {
922
  "n_cnv_cells": 0,
923
+ "n_genes": 29,
924
+ "n_mutated_cells": 938,
925
  "n_samples": 456
926
  },
927
+ "curated_at": "2026-08-05T18:59:21.762243+00:00",
928
  "genes_assayed": null,
929
  "modalities": {
930
  "cnv": false,
 
992
  "ICGC_0377": "truncating",
993
  "ICGC_0508": "missense"
994
  },
995
+ "BARD1": {
996
+ "ICGC_0124": "missense",
997
+ "ICGC_0376": "missense",
998
+ "ICGC_0548": "missense"
999
+ },
1000
  "BRCA1": {
1001
  "ICGC_0054": "truncating",
1002
  "ICGC_0076": "missense",
 
1514
  "ICGC_0543": "hotspot",
1515
  "ICGC_0549": "hotspot"
1516
  },
1517
+ "MSH2": {
1518
+ "ICGC_0090": "missense"
1519
+ },
1520
  "MYC": {
1521
  "ICGC_0191": "missense"
1522
  },
 
1524
  "ICGC_0087": "truncating",
1525
  "ICGC_0503": "missense"
1526
  },
1527
+ "PMS2": {
1528
+ "GARV_0660": "missense",
1529
+ "ICGC_0349": "missense"
1530
+ },
1531
  "RNF43": {
1532
  "ICGC_0005": "truncating",
1533
  "ICGC_0007": "truncating",
 
1934
  "BRCA1",
1935
  "BRCA2",
1936
  "PALB2",
1937
+ "ATM",
1938
+ "RAD51C",
1939
+ "RAD51D",
1940
+ "BRIP1",
1941
+ "BARD1",
1942
+ "CHEK2",
1943
+ "FANCC",
1944
+ "MLH1",
1945
+ "MSH2",
1946
+ "MSH6",
1947
+ "PMS2"
1948
  ],
1949
  "profiled": {
1950
  "mutation": [
 
2388
  "ATM\tICGC_0368": "ATM R3008S",
2389
  "ATM\tICGC_0377": "ATM I326Rfs*3",
2390
  "ATM\tICGC_0508": "ATM R3008C",
2391
+ "BARD1\tICGC_0124": "BARD1 G472E",
2392
+ "BARD1\tICGC_0376": "BARD1 W629S",
2393
+ "BARD1\tICGC_0548": "BARD1 E478G",
2394
  "BRCA1\tICGC_0054": "BRCA1 X1778_splice",
2395
  "BRCA1\tICGC_0076": "BRCA1 Q687P",
2396
  "BRCA1\tICGC_0089": "BRCA1 X183_splice",
 
2888
  "KRAS\tICGC_0542": "KRAS G12V",
2889
  "KRAS\tICGC_0543": "KRAS G12V",
2890
  "KRAS\tICGC_0549": "KRAS G12I",
2891
+ "MSH2\tICGC_0090": "MSH2 G669D",
2892
  "MYC\tICGC_0191": "MYC Q52del",
2893
  "PALB2\tICGC_0087": "PALB2 C768Lfs*82",
2894
  "PALB2\tICGC_0503": "PALB2 A503S",
2895
+ "PMS2\tGARV_0660": "PMS2 R151H",
2896
+ "PMS2\tICGC_0349": "PMS2 S69L",
2897
  "RNF43\tICGC_0005": "RNF43 L303Ffs*140",
2898
  "RNF43\tICGC_0007": "RNF43 V490Gfs*15",
2899
  "RNF43\tICGC_0008": "RNF43 R330*",
 
3737
  "study": "paad_qcmg_uq_2016",
3738
  "terms": {
3739
  "access_tier": "open",
3740
+ "commercial_use": "permitted",
3741
  "commercial_use_basis": {
3742
+ "confidence": "medium \u2014 upgraded from `no_restriction_found` on 2026-08-05, confirmed by Anne Voigt: the ICGC open tier affirmatively grants use including commercial use, so the earlier 'absence of a prohibition is not a grant' reading is superseded. OUTSTANDING: the specific granting clause was established off-repo and is not cited here \u2014 cite it in this entry when to hand, since `commercial_use_permitted()` now returns True for this study and a caller may rely on it",
3743
  "instrument": "ICGC/ICGC-ARGO E.8.1 Data Access Framework (open tier), E.3, E.4",
3744
  "obligations": "Cite the data source and acknowledge the clinical contributors and ICGC data producers (E.3). E.4 asks users not to claim IP over primary data including somatic mutations, and to license downstream inventions without obstructing further research \u2014 a genuine commercially-relevant obligation. Cite Bailey et al. Nature 2016. Open tier only; controlled tier requires DACO.",
3745
+ "reviewed": "2026-08-05",
3746
  "source": "https://www.icgc-argo.org/page/132/e8-data-access-and-data-use-policies-and-guidelines"
3747
  },
3748
  "license": "ODbL (cBioPortal default; upstream per-study terms override it)",
src/resources/curated/paad_tcga.json CHANGED
@@ -548,6 +548,39 @@
548
  "TCGA-US-A776-01": "loss",
549
  "TCGA-XN-A8T3-01": "loss"
550
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
551
  "BRCA1": {
552
  "TCGA-2J-AABI-01": "gain",
553
  "TCGA-2J-AABK-01": "amp",
@@ -646,6 +679,73 @@
646
  "TCGA-LB-A7SX-01": "loss",
647
  "TCGA-YB-A89D-01": "gain"
648
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
649
  "CDKN2A": {
650
  "TCGA-2J-AAB1-01": "deep_del",
651
  "TCGA-2J-AAB6-01": "deep_del",
@@ -766,6 +866,65 @@
766
  "TCGA-YH-A8SY-01": "deep_del",
767
  "TCGA-YY-A8LH-01": "loss"
768
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
769
  "ELAVL1": {
770
  "TCGA-2J-AAB8-01": "gain",
771
  "TCGA-2J-AABI-01": "loss",
@@ -812,6 +971,64 @@
812
  "TCGA-YB-A89D-01": "gain",
813
  "TCGA-YH-A8SY-01": "gain"
814
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
815
  "GATA6": {
816
  "TCGA-2J-AAB4-01": "gain",
817
  "TCGA-2J-AAB8-01": "gain",
@@ -1188,6 +1405,123 @@
1188
  "TCGA-Q3-AA2A-01": "gain",
1189
  "TCGA-YH-A8SY-01": "amp"
1190
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1191
  "MYC": {
1192
  "TCGA-2J-AAB4-01": "gain",
1193
  "TCGA-2J-AABF-01": "gain",
@@ -1305,6 +1639,177 @@
1305
  "TCGA-XN-A8T3-01": "loss",
1306
  "TCGA-YB-A89D-01": "gain"
1307
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1308
  "RNF43": {
1309
  "TCGA-2J-AAB4-01": "loss",
1310
  "TCGA-2J-AABE-01": "loss",
@@ -1667,12 +2172,12 @@
1667
  }
1668
  },
1669
  "counts": {
1670
- "n_cnv_cells": 1249,
1671
- "n_genes": 19,
1672
- "n_mutated_cells": 350,
1673
  "n_samples": 186
1674
  },
1675
- "curated_at": "2026-07-28T23:39:26.922919+00:00",
1676
  "genes_assayed": null,
1677
  "modalities": {
1678
  "cnv": true,
@@ -1700,6 +2205,10 @@
1700
  "TCGA-IB-8127-01": "missense",
1701
  "TCGA-US-A776-01": "truncating"
1702
  },
 
 
 
 
1703
  "BRCA1": {
1704
  "TCGA-IB-7651-01": "missense",
1705
  "TCGA-IB-AAUO-01": "missense"
@@ -1708,6 +2217,9 @@
1708
  "TCGA-FB-AAPU-01": "truncating",
1709
  "TCGA-IB-7651-01": "missense"
1710
  },
 
 
 
1711
  "CDKN2A": {
1712
  "TCGA-2J-AABF-01": "truncating",
1713
  "TCGA-2J-AABK-01": "truncating",
@@ -1732,9 +2244,15 @@
1732
  "TCGA-OE-A75W-01": "missense",
1733
  "TCGA-YB-A89D-01": "truncating"
1734
  },
 
 
 
1735
  "ELAVL1": {
1736
  "TCGA-IB-7651-01": "missense"
1737
  },
 
 
 
1738
  "GNAS": {
1739
  "TCGA-2J-AAB1-01": "hotspot",
1740
  "TCGA-F2-A44G-01": "missense",
@@ -1891,9 +2409,25 @@
1891
  "TCGA-YY-A8LH-01": "hotspot",
1892
  "TCGA-Z5-AAPL-01": "hotspot"
1893
  },
 
 
 
 
 
 
 
 
 
1894
  "PALB2": {
1895
  "TCGA-IB-7651-01": "missense"
1896
  },
 
 
 
 
 
 
 
1897
  "RNF43": {
1898
  "TCGA-2J-AABE-01": "truncating",
1899
  "TCGA-2L-AAQA-01": "truncating",
@@ -2080,7 +2614,17 @@
2080
  "BRCA1",
2081
  "BRCA2",
2082
  "PALB2",
2083
- "ATM"
 
 
 
 
 
 
 
 
 
 
2084
  ],
2085
  "profiled": {
2086
  "cnv": [
@@ -2437,10 +2981,13 @@
2437
  "ATM\tTCGA-IB-7651-01": "ATM L2780R",
2438
  "ATM\tTCGA-IB-8127-01": "ATM E2423G",
2439
  "ATM\tTCGA-US-A776-01": "ATM L1347*",
 
 
2440
  "BRCA1\tTCGA-IB-7651-01": "BRCA1 V1590A",
2441
  "BRCA1\tTCGA-IB-AAUO-01": "BRCA1 S646G",
2442
  "BRCA2\tTCGA-FB-AAPU-01": "BRCA2 V2716Wfs*17",
2443
  "BRCA2\tTCGA-IB-7651-01": "BRCA2 S278N",
 
2444
  "CDKN2A\tTCGA-2J-AABF-01": "CDKN2A R80*",
2445
  "CDKN2A\tTCGA-2J-AABK-01": "CDKN2A R80*",
2446
  "CDKN2A\tTCGA-2L-AAQE-01": "CDKN2A H83Y",
@@ -2463,7 +3010,9 @@
2463
  "CDKN2A\tTCGA-IB-A6UG-01": "CDKN2A R80*",
2464
  "CDKN2A\tTCGA-OE-A75W-01": "CDKN2A H83Y",
2465
  "CDKN2A\tTCGA-YB-A89D-01": "CDKN2A E88Rfs*58",
 
2466
  "ELAVL1\tTCGA-IB-7651-01": "ELAVL1 S60I",
 
2467
  "GNAS\tTCGA-2J-AAB1-01": "GNAS R201H",
2468
  "GNAS\tTCGA-F2-A44G-01": "GNAS D448A",
2469
  "GNAS\tTCGA-HV-AA8V-01": "GNAS R201C",
@@ -2614,7 +3163,13 @@
2614
  "KRAS\tTCGA-YH-A8SY-01": "KRAS G12V",
2615
  "KRAS\tTCGA-YY-A8LH-01": "KRAS G12V",
2616
  "KRAS\tTCGA-Z5-AAPL-01": "KRAS G12V",
 
 
 
2617
  "PALB2\tTCGA-IB-7651-01": "PALB2 A308T",
 
 
 
2618
  "RNF43\tTCGA-2J-AABE-01": "RNF43 Q22*",
2619
  "RNF43\tTCGA-2L-AAQA-01": "RNF43 A11Lfs*27",
2620
  "RNF43\tTCGA-3E-AAAZ-01": "RNF43 R145*",
 
548
  "TCGA-US-A776-01": "loss",
549
  "TCGA-XN-A8T3-01": "loss"
550
  },
551
+ "BARD1": {
552
+ "TCGA-2J-AABE-01": "gain",
553
+ "TCGA-2J-AABO-01": "gain",
554
+ "TCGA-2J-AABP-01": "loss",
555
+ "TCGA-2L-AAQL-01": "gain",
556
+ "TCGA-3A-A9IL-01": "loss",
557
+ "TCGA-3A-A9IS-01": "loss",
558
+ "TCGA-3A-A9J0-01": "gain",
559
+ "TCGA-FB-A545-01": "gain",
560
+ "TCGA-FB-AAPQ-01": "amp",
561
+ "TCGA-FB-AAPZ-01": "gain",
562
+ "TCGA-FZ-5921-01": "gain",
563
+ "TCGA-H6-8124-01": "loss",
564
+ "TCGA-HV-A5A3-01": "gain",
565
+ "TCGA-HV-AA8X-01": "gain",
566
+ "TCGA-HZ-7918-01": "gain",
567
+ "TCGA-HZ-A77P-01": "gain",
568
+ "TCGA-HZ-A9TJ-01": "gain",
569
+ "TCGA-IB-7646-01": "gain",
570
+ "TCGA-IB-7651-01": "gain",
571
+ "TCGA-IB-7652-01": "gain",
572
+ "TCGA-IB-7886-01": "gain",
573
+ "TCGA-IB-7893-01": "gain",
574
+ "TCGA-IB-8127-01": "gain",
575
+ "TCGA-IB-A5SP-01": "gain",
576
+ "TCGA-IB-AAUO-01": "loss",
577
+ "TCGA-IB-AAUU-01": "gain",
578
+ "TCGA-L1-A7W4-01": "loss",
579
+ "TCGA-S4-A8RO-01": "amp",
580
+ "TCGA-US-A776-01": "loss",
581
+ "TCGA-YB-A89D-01": "gain",
582
+ "TCGA-YH-A8SY-01": "gain"
583
+ },
584
  "BRCA1": {
585
  "TCGA-2J-AABI-01": "gain",
586
  "TCGA-2J-AABK-01": "amp",
 
679
  "TCGA-LB-A7SX-01": "loss",
680
  "TCGA-YB-A89D-01": "gain"
681
  },
682
+ "BRIP1": {
683
+ "TCGA-2J-AAB4-01": "loss",
684
+ "TCGA-2J-AAB8-01": "gain",
685
+ "TCGA-2J-AABE-01": "loss",
686
+ "TCGA-2J-AABI-01": "gain",
687
+ "TCGA-2J-AABK-01": "loss",
688
+ "TCGA-2J-AABO-01": "gain",
689
+ "TCGA-2L-AAQA-01": "loss",
690
+ "TCGA-2L-AAQJ-01": "gain",
691
+ "TCGA-2L-AAQL-01": "loss",
692
+ "TCGA-2L-AAQM-01": "gain",
693
+ "TCGA-3A-A9I5-01": "amp",
694
+ "TCGA-3A-A9I9-01": "loss",
695
+ "TCGA-3A-A9IC-01": "loss",
696
+ "TCGA-3A-A9IL-01": "gain",
697
+ "TCGA-3A-A9IN-01": "gain",
698
+ "TCGA-3A-A9IO-01": "gain",
699
+ "TCGA-3A-A9IV-01": "gain",
700
+ "TCGA-F2-6879-01": "loss",
701
+ "TCGA-F2-A8YN-01": "loss",
702
+ "TCGA-FB-A545-01": "loss",
703
+ "TCGA-FB-AAPP-01": "loss",
704
+ "TCGA-FB-AAPU-01": "amp",
705
+ "TCGA-FB-AAQ0-01": "loss",
706
+ "TCGA-FB-AAQ1-01": "gain",
707
+ "TCGA-FB-AAQ3-01": "loss",
708
+ "TCGA-FB-AAQ6-01": "loss",
709
+ "TCGA-FZ-5919-01": "loss",
710
+ "TCGA-FZ-5920-01": "loss",
711
+ "TCGA-HV-A5A3-01": "loss",
712
+ "TCGA-HV-AA8X-01": "gain",
713
+ "TCGA-HZ-7289-01": "loss",
714
+ "TCGA-HZ-7918-01": "gain",
715
+ "TCGA-HZ-7919-01": "loss",
716
+ "TCGA-HZ-7922-01": "loss",
717
+ "TCGA-HZ-8636-01": "loss",
718
+ "TCGA-HZ-A4BH-01": "loss",
719
+ "TCGA-HZ-A4BK-01": "gain",
720
+ "TCGA-HZ-A77O-01": "amp",
721
+ "TCGA-HZ-A9TJ-01": "gain",
722
+ "TCGA-IB-7644-01": "loss",
723
+ "TCGA-IB-7646-01": "gain",
724
+ "TCGA-IB-7652-01": "loss",
725
+ "TCGA-IB-7654-01": "gain",
726
+ "TCGA-IB-7886-01": "loss",
727
+ "TCGA-IB-7887-01": "loss",
728
+ "TCGA-IB-7888-01": "amp",
729
+ "TCGA-IB-7893-01": "gain",
730
+ "TCGA-IB-8127-01": "loss",
731
+ "TCGA-IB-A5SP-01": "loss",
732
+ "TCGA-IB-A6UF-01": "loss",
733
+ "TCGA-IB-A7M4-01": "gain",
734
+ "TCGA-IB-AAUN-01": "loss",
735
+ "TCGA-IB-AAUU-01": "loss",
736
+ "TCGA-LB-A7SX-01": "gain",
737
+ "TCGA-LB-A8F3-01": "gain",
738
+ "TCGA-M8-A5N4-01": "gain",
739
+ "TCGA-OE-A75W-01": "loss",
740
+ "TCGA-RB-AA9M-01": "loss",
741
+ "TCGA-S4-A8RO-01": "gain",
742
+ "TCGA-US-A779-01": "loss",
743
+ "TCGA-US-A77G-01": "loss",
744
+ "TCGA-XD-AAUI-01": "loss",
745
+ "TCGA-XN-A8T3-01": "loss",
746
+ "TCGA-YH-A8SY-01": "loss",
747
+ "TCGA-YY-A8LH-01": "loss"
748
+ },
749
  "CDKN2A": {
750
  "TCGA-2J-AAB1-01": "deep_del",
751
  "TCGA-2J-AAB6-01": "deep_del",
 
866
  "TCGA-YH-A8SY-01": "deep_del",
867
  "TCGA-YY-A8LH-01": "loss"
868
  },
869
+ "CHEK2": {
870
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871
+ "TCGA-2J-AABF-01": "loss",
872
+ "TCGA-2J-AABH-01": "loss",
873
+ "TCGA-2J-AABI-01": "loss",
874
+ "TCGA-2J-AABO-01": "loss",
875
+ "TCGA-2J-AABP-01": "gain",
876
+ "TCGA-2J-AABT-01": "loss",
877
+ "TCGA-2L-AAQA-01": "loss",
878
+ "TCGA-2L-AAQE-01": "loss",
879
+ "TCGA-2L-AAQM-01": "loss",
880
+ "TCGA-3A-A9I9-01": "loss",
881
+ "TCGA-3A-A9IC-01": "loss",
882
+ "TCGA-3A-A9IL-01": "loss",
883
+ "TCGA-3A-A9IU-01": "loss",
884
+ "TCGA-F2-6879-01": "loss",
885
+ "TCGA-F2-A44H-01": "loss",
886
+ "TCGA-FB-A545-01": "gain",
887
+ "TCGA-FB-A78T-01": "loss",
888
+ "TCGA-FB-A7DR-01": "loss",
889
+ "TCGA-FB-AAPZ-01": "loss",
890
+ "TCGA-FB-AAQ0-01": "loss",
891
+ "TCGA-FB-AAQ1-01": "loss",
892
+ "TCGA-FB-AAQ2-01": "loss",
893
+ "TCGA-FB-AAQ3-01": "loss",
894
+ "TCGA-FZ-5919-01": "loss",
895
+ "TCGA-FZ-5920-01": "loss",
896
+ "TCGA-FZ-5921-01": "gain",
897
+ "TCGA-FZ-5924-01": "loss",
898
+ "TCGA-HV-A5A5-01": "loss",
899
+ "TCGA-HV-A7OL-01": "loss",
900
+ "TCGA-HZ-7922-01": "gain",
901
+ "TCGA-HZ-8005-01": "loss",
902
+ "TCGA-HZ-8636-01": "loss",
903
+ "TCGA-HZ-A4BK-01": "loss",
904
+ "TCGA-HZ-A77O-01": "loss",
905
+ "TCGA-HZ-A77Q-01": "loss",
906
+ "TCGA-HZ-A8P1-01": "loss",
907
+ "TCGA-IB-7646-01": "loss",
908
+ "TCGA-IB-7886-01": "loss",
909
+ "TCGA-IB-7893-01": "gain",
910
+ "TCGA-IB-8127-01": "loss",
911
+ "TCGA-IB-A5SP-01": "loss",
912
+ "TCGA-IB-A6UF-01": "loss",
913
+ "TCGA-IB-A7LX-01": "loss",
914
+ "TCGA-IB-A7M4-01": "loss",
915
+ "TCGA-IB-AAUO-01": "loss",
916
+ "TCGA-IB-AAUU-01": "loss",
917
+ "TCGA-LB-A7SX-01": "loss",
918
+ "TCGA-OE-A75W-01": "loss",
919
+ "TCGA-PZ-A5RE-01": "loss",
920
+ "TCGA-RB-A7B8-01": "gain",
921
+ "TCGA-RB-AA9M-01": "loss",
922
+ "TCGA-S4-A8RP-01": "loss",
923
+ "TCGA-XD-AAUL-01": "loss",
924
+ "TCGA-XN-A8T3-01": "loss",
925
+ "TCGA-YB-A89D-01": "loss",
926
+ "TCGA-YY-A8LH-01": "loss"
927
+ },
928
  "ELAVL1": {
929
  "TCGA-2J-AAB8-01": "gain",
930
  "TCGA-2J-AABI-01": "loss",
 
971
  "TCGA-YB-A89D-01": "gain",
972
  "TCGA-YH-A8SY-01": "gain"
973
  },
974
+ "FANCC": {
975
+ "TCGA-2J-AABF-01": "loss",
976
+ "TCGA-2J-AABO-01": "loss",
977
+ "TCGA-2L-AAQE-01": "loss",
978
+ "TCGA-2L-AAQI-01": "loss",
979
+ "TCGA-2L-AAQJ-01": "loss",
980
+ "TCGA-2L-AAQL-01": "gain",
981
+ "TCGA-2L-AAQM-01": "gain",
982
+ "TCGA-3A-A9IB-01": "loss",
983
+ "TCGA-3A-A9IN-01": "gain",
984
+ "TCGA-3A-A9IV-01": "gain",
985
+ "TCGA-3A-A9J0-01": "loss",
986
+ "TCGA-3E-AAAZ-01": "loss",
987
+ "TCGA-F2-6879-01": "gain",
988
+ "TCGA-F2-A44G-01": "loss",
989
+ "TCGA-F2-A44H-01": "loss",
990
+ "TCGA-FB-AAPP-01": "gain",
991
+ "TCGA-FB-AAPS-01": "loss",
992
+ "TCGA-FB-AAPY-01": "loss",
993
+ "TCGA-FB-AAPZ-01": "gain",
994
+ "TCGA-FB-AAQ0-01": "loss",
995
+ "TCGA-FB-AAQ1-01": "loss",
996
+ "TCGA-FB-AAQ6-01": "loss",
997
+ "TCGA-FZ-5919-01": "loss",
998
+ "TCGA-FZ-5921-01": "loss",
999
+ "TCGA-FZ-5922-01": "loss",
1000
+ "TCGA-FZ-5924-01": "loss",
1001
+ "TCGA-FZ-5926-01": "loss",
1002
+ "TCGA-H6-8124-01": "loss",
1003
+ "TCGA-H8-A6C1-01": "loss",
1004
+ "TCGA-HZ-7918-01": "loss",
1005
+ "TCGA-HZ-7922-01": "loss",
1006
+ "TCGA-HZ-8005-01": "loss",
1007
+ "TCGA-HZ-8637-01": "loss",
1008
+ "TCGA-HZ-A49G-01": "loss",
1009
+ "TCGA-HZ-A4BH-01": "loss",
1010
+ "TCGA-HZ-A4BK-01": "loss",
1011
+ "TCGA-HZ-A77O-01": "loss",
1012
+ "TCGA-HZ-A9TJ-01": "loss",
1013
+ "TCGA-IB-7645-01": "loss",
1014
+ "TCGA-IB-7646-01": "gain",
1015
+ "TCGA-IB-7649-01": "loss",
1016
+ "TCGA-IB-7893-01": "loss",
1017
+ "TCGA-IB-A5SP-01": "gain",
1018
+ "TCGA-IB-A7LX-01": "loss",
1019
+ "TCGA-IB-AAUU-01": "loss",
1020
+ "TCGA-LB-A7SX-01": "loss",
1021
+ "TCGA-LB-A8F3-01": "loss",
1022
+ "TCGA-M8-A5N4-01": "loss",
1023
+ "TCGA-Q3-AA2A-01": "loss",
1024
+ "TCGA-RB-A7B8-01": "deep_del",
1025
+ "TCGA-RB-AA9M-01": "loss",
1026
+ "TCGA-US-A779-01": "loss",
1027
+ "TCGA-XD-AAUL-01": "loss",
1028
+ "TCGA-XN-A8T3-01": "gain",
1029
+ "TCGA-YH-A8SY-01": "loss",
1030
+ "TCGA-YY-A8LH-01": "loss"
1031
+ },
1032
  "GATA6": {
1033
  "TCGA-2J-AAB4-01": "gain",
1034
  "TCGA-2J-AAB8-01": "gain",
 
1405
  "TCGA-Q3-AA2A-01": "gain",
1406
  "TCGA-YH-A8SY-01": "amp"
1407
  },
1408
+ "MLH1": {
1409
+ "TCGA-2J-AAB6-01": "gain",
1410
+ "TCGA-2J-AAB8-01": "loss",
1411
+ "TCGA-2J-AABI-01": "loss",
1412
+ "TCGA-2J-AABO-01": "loss",
1413
+ "TCGA-2J-AABU-01": "loss",
1414
+ "TCGA-2L-AAQI-01": "loss",
1415
+ "TCGA-2L-AAQJ-01": "loss",
1416
+ "TCGA-2L-AAQL-01": "loss",
1417
+ "TCGA-2L-AAQM-01": "loss",
1418
+ "TCGA-3A-A9I5-01": "loss",
1419
+ "TCGA-3A-A9IC-01": "loss",
1420
+ "TCGA-3A-A9IO-01": "loss",
1421
+ "TCGA-3A-A9J0-01": "gain",
1422
+ "TCGA-F2-A44H-01": "loss",
1423
+ "TCGA-FB-A5VM-01": "gain",
1424
+ "TCGA-FB-AAPP-01": "loss",
1425
+ "TCGA-FB-AAPQ-01": "loss",
1426
+ "TCGA-FB-AAPY-01": "loss",
1427
+ "TCGA-FB-AAPZ-01": "loss",
1428
+ "TCGA-FB-AAQ1-01": "loss",
1429
+ "TCGA-FB-AAQ6-01": "loss",
1430
+ "TCGA-FZ-5924-01": "loss",
1431
+ "TCGA-HV-AA8X-01": "loss",
1432
+ "TCGA-HZ-7918-01": "loss",
1433
+ "TCGA-HZ-7922-01": "loss",
1434
+ "TCGA-HZ-7925-01": "loss",
1435
+ "TCGA-HZ-8005-01": "loss",
1436
+ "TCGA-HZ-8637-01": "loss",
1437
+ "TCGA-HZ-A4BK-01": "loss",
1438
+ "TCGA-HZ-A77O-01": "loss",
1439
+ "TCGA-HZ-A8P1-01": "loss",
1440
+ "TCGA-HZ-A9TJ-01": "gain",
1441
+ "TCGA-IB-7646-01": "loss",
1442
+ "TCGA-IB-7647-01": "loss",
1443
+ "TCGA-IB-7652-01": "amp",
1444
+ "TCGA-IB-7654-01": "loss",
1445
+ "TCGA-IB-7886-01": "loss",
1446
+ "TCGA-IB-7887-01": "loss",
1447
+ "TCGA-IB-7890-01": "loss",
1448
+ "TCGA-IB-7893-01": "gain",
1449
+ "TCGA-IB-8127-01": "loss",
1450
+ "TCGA-IB-A5SP-01": "loss",
1451
+ "TCGA-IB-A6UG-01": "gain",
1452
+ "TCGA-IB-A7LX-01": "loss",
1453
+ "TCGA-IB-AAUU-01": "amp",
1454
+ "TCGA-LB-A7SX-01": "loss",
1455
+ "TCGA-LB-A8F3-01": "loss",
1456
+ "TCGA-M8-A5N4-01": "loss",
1457
+ "TCGA-RB-AA9M-01": "loss",
1458
+ "TCGA-YH-A8SY-01": "loss",
1459
+ "TCGA-YY-A8LH-01": "loss"
1460
+ },
1461
+ "MSH2": {
1462
+ "TCGA-2J-AABO-01": "gain",
1463
+ "TCGA-2J-AABP-01": "loss",
1464
+ "TCGA-2J-AABU-01": "gain",
1465
+ "TCGA-2L-AAQL-01": "gain",
1466
+ "TCGA-3A-A9I9-01": "loss",
1467
+ "TCGA-3A-A9IL-01": "loss",
1468
+ "TCGA-3A-A9IS-01": "loss",
1469
+ "TCGA-3A-A9IZ-01": "gain",
1470
+ "TCGA-3A-A9J0-01": "gain",
1471
+ "TCGA-FB-A545-01": "gain",
1472
+ "TCGA-FB-AAPQ-01": "loss",
1473
+ "TCGA-FB-AAPZ-01": "gain",
1474
+ "TCGA-FB-AAQ1-01": "loss",
1475
+ "TCGA-H6-8124-01": "loss",
1476
+ "TCGA-HZ-7289-01": "loss",
1477
+ "TCGA-HZ-A49I-01": "loss",
1478
+ "TCGA-HZ-A9TJ-01": "gain",
1479
+ "TCGA-IB-7646-01": "loss",
1480
+ "TCGA-IB-7651-01": "gain",
1481
+ "TCGA-IB-7652-01": "loss",
1482
+ "TCGA-IB-7886-01": "gain",
1483
+ "TCGA-IB-7888-01": "loss",
1484
+ "TCGA-IB-7893-01": "gain",
1485
+ "TCGA-IB-8127-01": "gain",
1486
+ "TCGA-IB-A5SP-01": "gain",
1487
+ "TCGA-IB-AAUU-01": "gain",
1488
+ "TCGA-OE-A75W-01": "loss",
1489
+ "TCGA-US-A776-01": "loss",
1490
+ "TCGA-YB-A89D-01": "gain",
1491
+ "TCGA-YH-A8SY-01": "loss"
1492
+ },
1493
+ "MSH6": {
1494
+ "TCGA-2J-AABO-01": "gain",
1495
+ "TCGA-2J-AABP-01": "loss",
1496
+ "TCGA-2J-AABU-01": "gain",
1497
+ "TCGA-2L-AAQL-01": "gain",
1498
+ "TCGA-3A-A9I9-01": "loss",
1499
+ "TCGA-3A-A9IL-01": "loss",
1500
+ "TCGA-3A-A9IS-01": "loss",
1501
+ "TCGA-3A-A9IZ-01": "gain",
1502
+ "TCGA-3A-A9J0-01": "gain",
1503
+ "TCGA-FB-A545-01": "gain",
1504
+ "TCGA-FB-AAPQ-01": "loss",
1505
+ "TCGA-FB-AAPZ-01": "gain",
1506
+ "TCGA-FB-AAQ1-01": "loss",
1507
+ "TCGA-H6-8124-01": "loss",
1508
+ "TCGA-HZ-7289-01": "loss",
1509
+ "TCGA-HZ-A49I-01": "loss",
1510
+ "TCGA-HZ-A9TJ-01": "gain",
1511
+ "TCGA-IB-7646-01": "loss",
1512
+ "TCGA-IB-7651-01": "gain",
1513
+ "TCGA-IB-7652-01": "loss",
1514
+ "TCGA-IB-7886-01": "gain",
1515
+ "TCGA-IB-7888-01": "loss",
1516
+ "TCGA-IB-7893-01": "gain",
1517
+ "TCGA-IB-8127-01": "gain",
1518
+ "TCGA-IB-A5SP-01": "gain",
1519
+ "TCGA-IB-AAUU-01": "gain",
1520
+ "TCGA-OE-A75W-01": "loss",
1521
+ "TCGA-US-A776-01": "loss",
1522
+ "TCGA-YB-A89D-01": "gain",
1523
+ "TCGA-YH-A8SY-01": "loss"
1524
+ },
1525
  "MYC": {
1526
  "TCGA-2J-AAB4-01": "gain",
1527
  "TCGA-2J-AABF-01": "gain",
 
1639
  "TCGA-XN-A8T3-01": "loss",
1640
  "TCGA-YB-A89D-01": "gain"
1641
  },
1642
+ "PMS2": {
1643
+ "TCGA-2J-AAB1-01": "gain",
1644
+ "TCGA-2J-AAB6-01": "gain",
1645
+ "TCGA-2J-AAB8-01": "gain",
1646
+ "TCGA-2J-AABF-01": "gain",
1647
+ "TCGA-2J-AABP-01": "gain",
1648
+ "TCGA-2J-AABT-01": "gain",
1649
+ "TCGA-2L-AAQL-01": "gain",
1650
+ "TCGA-2L-AAQM-01": "gain",
1651
+ "TCGA-3A-A9IJ-01": "gain",
1652
+ "TCGA-3A-A9IL-01": "gain",
1653
+ "TCGA-3A-A9IN-01": "gain",
1654
+ "TCGA-3A-A9IO-01": "gain",
1655
+ "TCGA-3A-A9IV-01": "gain",
1656
+ "TCGA-3A-A9J0-01": "gain",
1657
+ "TCGA-F2-A7TX-01": "gain",
1658
+ "TCGA-FB-A545-01": "gain",
1659
+ "TCGA-FB-AAPP-01": "gain",
1660
+ "TCGA-FB-AAPZ-01": "gain",
1661
+ "TCGA-FB-AAQ0-01": "gain",
1662
+ "TCGA-FB-AAQ1-01": "gain",
1663
+ "TCGA-FZ-5919-01": "gain",
1664
+ "TCGA-FZ-5921-01": "gain",
1665
+ "TCGA-H8-A6C1-01": "gain",
1666
+ "TCGA-HV-A5A6-01": "gain",
1667
+ "TCGA-HZ-7289-01": "gain",
1668
+ "TCGA-HZ-7922-01": "loss",
1669
+ "TCGA-HZ-7926-01": "gain",
1670
+ "TCGA-HZ-8005-01": "amp",
1671
+ "TCGA-HZ-8636-01": "gain",
1672
+ "TCGA-HZ-A77O-01": "gain",
1673
+ "TCGA-HZ-A9TJ-01": "gain",
1674
+ "TCGA-IB-7645-01": "gain",
1675
+ "TCGA-IB-7646-01": "gain",
1676
+ "TCGA-IB-7652-01": "gain",
1677
+ "TCGA-IB-7886-01": "gain",
1678
+ "TCGA-IB-7889-01": "gain",
1679
+ "TCGA-IB-7893-01": "gain",
1680
+ "TCGA-IB-8127-01": "gain",
1681
+ "TCGA-IB-A5SP-01": "gain",
1682
+ "TCGA-IB-A6UG-01": "gain",
1683
+ "TCGA-IB-A7LX-01": "gain",
1684
+ "TCGA-IB-AAUO-01": "loss",
1685
+ "TCGA-IB-AAUQ-01": "gain",
1686
+ "TCGA-IB-AAUU-01": "gain",
1687
+ "TCGA-LB-A7SX-01": "amp",
1688
+ "TCGA-LB-A8F3-01": "gain",
1689
+ "TCGA-M8-A5N4-01": "gain",
1690
+ "TCGA-PZ-A5RE-01": "gain",
1691
+ "TCGA-RB-A7B8-01": "gain",
1692
+ "TCGA-S4-A8RM-01": "gain",
1693
+ "TCGA-US-A77E-01": "gain",
1694
+ "TCGA-XN-A8T3-01": "loss",
1695
+ "TCGA-YB-A89D-01": "gain",
1696
+ "TCGA-YY-A8LH-01": "gain"
1697
+ },
1698
+ "RAD51C": {
1699
+ "TCGA-2J-AAB4-01": "loss",
1700
+ "TCGA-2J-AABE-01": "loss",
1701
+ "TCGA-2J-AABI-01": "gain",
1702
+ "TCGA-2J-AABK-01": "loss",
1703
+ "TCGA-2J-AABO-01": "gain",
1704
+ "TCGA-2J-AABP-01": "loss",
1705
+ "TCGA-2L-AAQA-01": "loss",
1706
+ "TCGA-2L-AAQE-01": "loss",
1707
+ "TCGA-2L-AAQJ-01": "loss",
1708
+ "TCGA-2L-AAQL-01": "loss",
1709
+ "TCGA-2L-AAQM-01": "gain",
1710
+ "TCGA-3A-A9I5-01": "gain",
1711
+ "TCGA-3A-A9I9-01": "loss",
1712
+ "TCGA-3A-A9IC-01": "loss",
1713
+ "TCGA-3A-A9IL-01": "gain",
1714
+ "TCGA-3A-A9IN-01": "gain",
1715
+ "TCGA-3A-A9IO-01": "gain",
1716
+ "TCGA-3A-A9IV-01": "gain",
1717
+ "TCGA-F2-6879-01": "loss",
1718
+ "TCGA-F2-A8YN-01": "loss",
1719
+ "TCGA-FB-A545-01": "loss",
1720
+ "TCGA-FB-AAPP-01": "loss",
1721
+ "TCGA-FB-AAQ0-01": "loss",
1722
+ "TCGA-FB-AAQ1-01": "gain",
1723
+ "TCGA-FB-AAQ3-01": "loss",
1724
+ "TCGA-FB-AAQ6-01": "loss",
1725
+ "TCGA-FZ-5919-01": "loss",
1726
+ "TCGA-FZ-5920-01": "loss",
1727
+ "TCGA-HV-A5A3-01": "loss",
1728
+ "TCGA-HV-AA8X-01": "loss",
1729
+ "TCGA-HZ-7289-01": "loss",
1730
+ "TCGA-HZ-7918-01": "gain",
1731
+ "TCGA-HZ-7919-01": "loss",
1732
+ "TCGA-HZ-7922-01": "loss",
1733
+ "TCGA-HZ-8005-01": "loss",
1734
+ "TCGA-HZ-8636-01": "loss",
1735
+ "TCGA-HZ-A4BH-01": "loss",
1736
+ "TCGA-HZ-A4BK-01": "gain",
1737
+ "TCGA-HZ-A77O-01": "loss",
1738
+ "TCGA-HZ-A9TJ-01": "gain",
1739
+ "TCGA-IB-7644-01": "loss",
1740
+ "TCGA-IB-7646-01": "gain",
1741
+ "TCGA-IB-7652-01": "loss",
1742
+ "TCGA-IB-7886-01": "loss",
1743
+ "TCGA-IB-7887-01": "loss",
1744
+ "TCGA-IB-7888-01": "loss",
1745
+ "TCGA-IB-7893-01": "gain",
1746
+ "TCGA-IB-8127-01": "loss",
1747
+ "TCGA-IB-A5SP-01": "loss",
1748
+ "TCGA-IB-A6UF-01": "loss",
1749
+ "TCGA-IB-A7M4-01": "gain",
1750
+ "TCGA-IB-AAUN-01": "loss",
1751
+ "TCGA-IB-AAUU-01": "loss",
1752
+ "TCGA-L1-A7W4-01": "loss",
1753
+ "TCGA-LB-A7SX-01": "loss",
1754
+ "TCGA-LB-A8F3-01": "gain",
1755
+ "TCGA-M8-A5N4-01": "gain",
1756
+ "TCGA-OE-A75W-01": "loss",
1757
+ "TCGA-S4-A8RO-01": "gain",
1758
+ "TCGA-US-A779-01": "loss",
1759
+ "TCGA-US-A77G-01": "loss",
1760
+ "TCGA-XD-AAUI-01": "loss",
1761
+ "TCGA-XN-A8T3-01": "loss",
1762
+ "TCGA-YH-A8SY-01": "loss",
1763
+ "TCGA-YY-A8LH-01": "loss"
1764
+ },
1765
+ "RAD51D": {
1766
+ "TCGA-2J-AABI-01": "gain",
1767
+ "TCGA-2J-AABK-01": "loss",
1768
+ "TCGA-2J-AABO-01": "gain",
1769
+ "TCGA-2J-AABP-01": "loss",
1770
+ "TCGA-2L-AAQA-01": "loss",
1771
+ "TCGA-2L-AAQE-01": "loss",
1772
+ "TCGA-2L-AAQL-01": "gain",
1773
+ "TCGA-2L-AAQM-01": "gain",
1774
+ "TCGA-3A-A9I5-01": "gain",
1775
+ "TCGA-3A-A9I9-01": "loss",
1776
+ "TCGA-3A-A9IL-01": "gain",
1777
+ "TCGA-3A-A9IN-01": "gain",
1778
+ "TCGA-3A-A9IO-01": "gain",
1779
+ "TCGA-3A-A9IV-01": "gain",
1780
+ "TCGA-F2-6879-01": "loss",
1781
+ "TCGA-F2-A8YN-01": "loss",
1782
+ "TCGA-FB-A545-01": "amp",
1783
+ "TCGA-FB-AAPP-01": "loss",
1784
+ "TCGA-FB-AAQ0-01": "gain",
1785
+ "TCGA-FB-AAQ1-01": "gain",
1786
+ "TCGA-FB-AAQ3-01": "amp",
1787
+ "TCGA-FZ-5919-01": "loss",
1788
+ "TCGA-FZ-5920-01": "loss",
1789
+ "TCGA-HV-AA8X-01": "amp",
1790
+ "TCGA-HZ-7289-01": "loss",
1791
+ "TCGA-HZ-7922-01": "gain",
1792
+ "TCGA-HZ-8636-01": "loss",
1793
+ "TCGA-HZ-A4BH-01": "gain",
1794
+ "TCGA-HZ-A4BK-01": "loss",
1795
+ "TCGA-HZ-A77Q-01": "loss",
1796
+ "TCGA-HZ-A9TJ-01": "gain",
1797
+ "TCGA-IB-7646-01": "gain",
1798
+ "TCGA-IB-7652-01": "loss",
1799
+ "TCGA-IB-7886-01": "loss",
1800
+ "TCGA-IB-7893-01": "gain",
1801
+ "TCGA-IB-A5SP-01": "loss",
1802
+ "TCGA-IB-A6UF-01": "loss",
1803
+ "TCGA-IB-A7M4-01": "gain",
1804
+ "TCGA-L1-A7W4-01": "loss",
1805
+ "TCGA-LB-A7SX-01": "gain",
1806
+ "TCGA-LB-A8F3-01": "gain",
1807
+ "TCGA-M8-A5N4-01": "gain",
1808
+ "TCGA-S4-A8RO-01": "gain",
1809
+ "TCGA-XD-AAUI-01": "deep_del",
1810
+ "TCGA-XN-A8T3-01": "loss",
1811
+ "TCGA-YH-A8SY-01": "amp"
1812
+ },
1813
  "RNF43": {
1814
  "TCGA-2J-AAB4-01": "loss",
1815
  "TCGA-2J-AABE-01": "loss",
 
2172
  }
2173
  },
2174
  "counts": {
2175
+ "n_cnv_cells": 1734,
2176
+ "n_genes": 29,
2177
+ "n_mutated_cells": 361,
2178
  "n_samples": 186
2179
  },
2180
+ "curated_at": "2026-08-05T18:58:36.682377+00:00",
2181
  "genes_assayed": null,
2182
  "modalities": {
2183
  "cnv": true,
 
2205
  "TCGA-IB-8127-01": "missense",
2206
  "TCGA-US-A776-01": "truncating"
2207
  },
2208
+ "BARD1": {
2209
+ "TCGA-FB-AAQ6-01": "missense",
2210
+ "TCGA-IB-7651-01": "missense"
2211
+ },
2212
  "BRCA1": {
2213
  "TCGA-IB-7651-01": "missense",
2214
  "TCGA-IB-AAUO-01": "missense"
 
2217
  "TCGA-FB-AAPU-01": "truncating",
2218
  "TCGA-IB-7651-01": "missense"
2219
  },
2220
+ "BRIP1": {
2221
+ "TCGA-IB-7651-01": "missense"
2222
+ },
2223
  "CDKN2A": {
2224
  "TCGA-2J-AABF-01": "truncating",
2225
  "TCGA-2J-AABK-01": "truncating",
 
2244
  "TCGA-OE-A75W-01": "missense",
2245
  "TCGA-YB-A89D-01": "truncating"
2246
  },
2247
+ "CHEK2": {
2248
+ "TCGA-FB-AAQ6-01": "missense"
2249
+ },
2250
  "ELAVL1": {
2251
  "TCGA-IB-7651-01": "missense"
2252
  },
2253
+ "FANCC": {
2254
+ "TCGA-IB-7651-01": "missense"
2255
+ },
2256
  "GNAS": {
2257
  "TCGA-2J-AAB1-01": "hotspot",
2258
  "TCGA-F2-A44G-01": "missense",
 
2409
  "TCGA-YY-A8LH-01": "hotspot",
2410
  "TCGA-Z5-AAPL-01": "hotspot"
2411
  },
2412
+ "MLH1": {
2413
+ "TCGA-IB-7651-01": "missense"
2414
+ },
2415
+ "MSH2": {
2416
+ "TCGA-IB-7651-01": "truncating"
2417
+ },
2418
+ "MSH6": {
2419
+ "TCGA-IB-7651-01": "truncating"
2420
+ },
2421
  "PALB2": {
2422
  "TCGA-IB-7651-01": "missense"
2423
  },
2424
+ "PMS2": {
2425
+ "TCGA-2J-AABU-01": "missense",
2426
+ "TCGA-IB-7651-01": "missense"
2427
+ },
2428
+ "RAD51C": {
2429
+ "TCGA-IB-7651-01": "truncating"
2430
+ },
2431
  "RNF43": {
2432
  "TCGA-2J-AABE-01": "truncating",
2433
  "TCGA-2L-AAQA-01": "truncating",
 
2614
  "BRCA1",
2615
  "BRCA2",
2616
  "PALB2",
2617
+ "ATM",
2618
+ "RAD51C",
2619
+ "RAD51D",
2620
+ "BRIP1",
2621
+ "BARD1",
2622
+ "CHEK2",
2623
+ "FANCC",
2624
+ "MLH1",
2625
+ "MSH2",
2626
+ "MSH6",
2627
+ "PMS2"
2628
  ],
2629
  "profiled": {
2630
  "cnv": [
 
2981
  "ATM\tTCGA-IB-7651-01": "ATM L2780R",
2982
  "ATM\tTCGA-IB-8127-01": "ATM E2423G",
2983
  "ATM\tTCGA-US-A776-01": "ATM L1347*",
2984
+ "BARD1\tTCGA-FB-AAQ6-01": "BARD1 T394A",
2985
+ "BARD1\tTCGA-IB-7651-01": "BARD1 L585I",
2986
  "BRCA1\tTCGA-IB-7651-01": "BRCA1 V1590A",
2987
  "BRCA1\tTCGA-IB-AAUO-01": "BRCA1 S646G",
2988
  "BRCA2\tTCGA-FB-AAPU-01": "BRCA2 V2716Wfs*17",
2989
  "BRCA2\tTCGA-IB-7651-01": "BRCA2 S278N",
2990
+ "BRIP1\tTCGA-IB-7651-01": "BRIP1 A1167V",
2991
  "CDKN2A\tTCGA-2J-AABF-01": "CDKN2A R80*",
2992
  "CDKN2A\tTCGA-2J-AABK-01": "CDKN2A R80*",
2993
  "CDKN2A\tTCGA-2L-AAQE-01": "CDKN2A H83Y",
 
3010
  "CDKN2A\tTCGA-IB-A6UG-01": "CDKN2A R80*",
3011
  "CDKN2A\tTCGA-OE-A75W-01": "CDKN2A H83Y",
3012
  "CDKN2A\tTCGA-YB-A89D-01": "CDKN2A E88Rfs*58",
3013
+ "CHEK2\tTCGA-FB-AAQ6-01": "CHEK2 S56R",
3014
  "ELAVL1\tTCGA-IB-7651-01": "ELAVL1 S60I",
3015
+ "FANCC\tTCGA-IB-7651-01": "FANCC P346L",
3016
  "GNAS\tTCGA-2J-AAB1-01": "GNAS R201H",
3017
  "GNAS\tTCGA-F2-A44G-01": "GNAS D448A",
3018
  "GNAS\tTCGA-HV-AA8V-01": "GNAS R201C",
 
3163
  "KRAS\tTCGA-YH-A8SY-01": "KRAS G12V",
3164
  "KRAS\tTCGA-YY-A8LH-01": "KRAS G12V",
3165
  "KRAS\tTCGA-Z5-AAPL-01": "KRAS G12V",
3166
+ "MLH1\tTCGA-IB-7651-01": "MLH1 I190T",
3167
+ "MSH2\tTCGA-IB-7651-01": "MSH2 X504_splice",
3168
+ "MSH6\tTCGA-IB-7651-01": "MSH6 E1234*",
3169
  "PALB2\tTCGA-IB-7651-01": "PALB2 A308T",
3170
+ "PMS2\tTCGA-2J-AABU-01": "PMS2 A96V",
3171
+ "PMS2\tTCGA-IB-7651-01": "PMS2 A38V",
3172
+ "RAD51C\tTCGA-IB-7651-01": "RAD51C X343_splice",
3173
  "RNF43\tTCGA-2J-AABE-01": "RNF43 Q22*",
3174
  "RNF43\tTCGA-2L-AAQA-01": "RNF43 A11Lfs*27",
3175
  "RNF43\tTCGA-3E-AAAZ-01": "RNF43 R145*",
src/resources/curated/paad_utsw_2015.json CHANGED
@@ -444,6 +444,59 @@
444
  "PDA_106": "gain",
445
  "PDA_107": "gain"
446
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
447
  "BRCA1": {
448
  "PDA_001": "loss",
449
  "PDA_002": "loss",
@@ -575,6 +628,77 @@
575
  "PDA_105": "loss",
576
  "PDA_106": "gain"
577
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
578
  "CDKN2A": {
579
  "PDA_001": "deep_del",
580
  "PDA_002": "loss",
@@ -675,6 +799,77 @@
675
  "PDA_107": "deep_del",
676
  "PDA_108": "deep_del"
677
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
678
  "ELAVL1": {
679
  "PDA_002": "loss",
680
  "PDA_004": "gain",
@@ -760,6 +955,69 @@
760
  "PDA_106": "deep_del",
761
  "PDA_109": "gain"
762
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
763
  "GATA6": {
764
  "PDA_001": "gain",
765
  "PDA_002": "gain",
@@ -1049,53 +1307,217 @@
1049
  "PDA_035": "loss",
1050
  "PDA_036": "gain",
1051
  "PDA_037": "loss",
1052
- "PDA_038": "gain",
1053
- "PDA_041": "gain",
1054
- "PDA_042": "loss",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1055
  "PDA_043": "loss",
1056
- "PDA_045": "loss",
1057
- "PDA_048": "amp",
1058
- "PDA_049": "amp",
1059
- "PDA_050": "loss",
1060
- "PDA_052": "loss",
1061
  "PDA_054": "gain",
1062
  "PDA_055": "gain",
1063
- "PDA_057": "gain",
1064
  "PDA_058": "loss",
1065
  "PDA_059": "loss",
1066
  "PDA_060": "loss",
1067
- "PDA_061": "loss",
1068
- "PDA_062": "loss",
1069
  "PDA_064": "loss",
1070
- "PDA_065": "gain",
1071
- "PDA_066": "amp",
1072
- "PDA_067": "loss",
1073
- "PDA_068": "gain",
1074
- "PDA_070": "loss",
1075
  "PDA_072": "loss",
1076
- "PDA_073": "gain",
1077
  "PDA_074": "gain",
1078
- "PDA_075": "gain",
1079
- "PDA_076": "amp",
1080
- "PDA_078": "gain",
1081
- "PDA_079": "gain",
1082
- "PDA_080": "loss",
1083
- "PDA_081": "loss",
1084
- "PDA_082": "gain",
1085
- "PDA_083": "gain",
1086
- "PDA_086": "amp",
1087
  "PDA_087": "loss",
1088
- "PDA_088": "gain",
 
1089
  "PDA_091": "loss",
1090
  "PDA_092": "loss",
1091
- "PDA_094": "gain",
1092
- "PDA_095": "loss",
1093
  "PDA_096": "gain",
1094
  "PDA_100": "gain",
1095
- "PDA_102": "loss",
1096
- "PDA_103": "gain",
1097
- "PDA_105": "loss",
1098
- "PDA_106": "amp"
1099
  },
1100
  "MYC": {
1101
  "PDA_002": "amp",
@@ -1238,6 +1660,215 @@
1238
  "PDA_107": "gain",
1239
  "PDA_109": "gain"
1240
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1241
  "RNF43": {
1242
  "PDA_001": "loss",
1243
  "PDA_002": "loss",
@@ -1571,12 +2202,12 @@
1571
  }
1572
  },
1573
  "counts": {
1574
- "n_cnv_cells": 1309,
1575
- "n_genes": 19,
1576
- "n_mutated_cells": 222,
1577
  "n_samples": 109
1578
  },
1579
- "curated_at": "2026-07-28T23:39:56.327392+00:00",
1580
  "genes_assayed": null,
1581
  "modalities": {
1582
  "cnv": true,
@@ -1615,6 +2246,11 @@
1615
  "PDA_100": "truncating",
1616
  "PDA_105": "missense"
1617
  },
 
 
 
 
 
1618
  "GNAS": {
1619
  "PDA_043": "hotspot",
1620
  "PDA_065": "hotspot",
@@ -1741,6 +2377,14 @@
1741
  "PDA_108": "hotspot",
1742
  "PDA_109": "hotspot"
1743
  },
 
 
 
 
 
 
 
 
1744
  "MYC": {
1745
  "PDA_044": "truncating"
1746
  },
@@ -1860,7 +2504,17 @@
1860
  "BRCA1",
1861
  "BRCA2",
1862
  "PALB2",
1863
- "ATM"
 
 
 
 
 
 
 
 
 
 
1864
  ],
1865
  "profiled": {
1866
  "cnv": null,
@@ -1886,6 +2540,9 @@
1886
  "CDKN2A\tPDA_093": "CDKN2A E69*",
1887
  "CDKN2A\tPDA_100": "CDKN2A E2Sfs*24",
1888
  "CDKN2A\tPDA_105": "CDKN2A P48R",
 
 
 
1889
  "GNAS\tPDA_043": "GNAS R201H",
1890
  "GNAS\tPDA_065": "GNAS R201C",
1891
  "GNAS\tPDA_068": "GNAS R201C",
@@ -2002,6 +2659,10 @@
2002
  "KRAS\tPDA_107": "KRAS G12V",
2003
  "KRAS\tPDA_108": "KRAS G12D",
2004
  "KRAS\tPDA_109": "KRAS G12D",
 
 
 
 
2005
  "MYC\tPDA_044": "MYC S292*",
2006
  "PALB2\tPDA_086": "PALB2 W898Efs*29",
2007
  "RNF43\tPDA_028": "RNF43 I186T",
 
444
  "PDA_106": "gain",
445
  "PDA_107": "gain"
446
  },
447
+ "BARD1": {
448
+ "PDA_004": "gain",
449
+ "PDA_005": "gain",
450
+ "PDA_006": "gain",
451
+ "PDA_007": "gain",
452
+ "PDA_010": "loss",
453
+ "PDA_011": "gain",
454
+ "PDA_012": "deep_del",
455
+ "PDA_015": "loss",
456
+ "PDA_016": "loss",
457
+ "PDA_017": "loss",
458
+ "PDA_019": "loss",
459
+ "PDA_022": "gain",
460
+ "PDA_027": "gain",
461
+ "PDA_029": "loss",
462
+ "PDA_030": "gain",
463
+ "PDA_032": "loss",
464
+ "PDA_034": "amp",
465
+ "PDA_035": "loss",
466
+ "PDA_036": "gain",
467
+ "PDA_037": "loss",
468
+ "PDA_038": "gain",
469
+ "PDA_040": "gain",
470
+ "PDA_041": "loss",
471
+ "PDA_043": "loss",
472
+ "PDA_045": "loss",
473
+ "PDA_046": "gain",
474
+ "PDA_052": "loss",
475
+ "PDA_054": "gain",
476
+ "PDA_055": "gain",
477
+ "PDA_058": "loss",
478
+ "PDA_059": "loss",
479
+ "PDA_060": "loss",
480
+ "PDA_061": "loss",
481
+ "PDA_062": "loss",
482
+ "PDA_063": "gain",
483
+ "PDA_064": "loss",
484
+ "PDA_067": "loss",
485
+ "PDA_073": "gain",
486
+ "PDA_074": "gain",
487
+ "PDA_076": "gain",
488
+ "PDA_078": "loss",
489
+ "PDA_080": "loss",
490
+ "PDA_083": "loss",
491
+ "PDA_086": "gain",
492
+ "PDA_090": "gain",
493
+ "PDA_091": "loss",
494
+ "PDA_092": "gain",
495
+ "PDA_094": "gain",
496
+ "PDA_096": "gain",
497
+ "PDA_097": "gain",
498
+ "PDA_106": "gain"
499
+ },
500
  "BRCA1": {
501
  "PDA_001": "loss",
502
  "PDA_002": "loss",
 
628
  "PDA_105": "loss",
629
  "PDA_106": "gain"
630
  },
631
+ "BRIP1": {
632
+ "PDA_001": "gain",
633
+ "PDA_002": "loss",
634
+ "PDA_003": "loss",
635
+ "PDA_004": "gain",
636
+ "PDA_005": "gain",
637
+ "PDA_008": "deep_del",
638
+ "PDA_009": "loss",
639
+ "PDA_010": "gain",
640
+ "PDA_011": "amp",
641
+ "PDA_014": "gain",
642
+ "PDA_015": "gain",
643
+ "PDA_017": "deep_del",
644
+ "PDA_019": "loss",
645
+ "PDA_021": "loss",
646
+ "PDA_023": "deep_del",
647
+ "PDA_027": "gain",
648
+ "PDA_028": "loss",
649
+ "PDA_029": "loss",
650
+ "PDA_030": "loss",
651
+ "PDA_032": "loss",
652
+ "PDA_034": "amp",
653
+ "PDA_035": "loss",
654
+ "PDA_037": "loss",
655
+ "PDA_039": "loss",
656
+ "PDA_040": "loss",
657
+ "PDA_041": "gain",
658
+ "PDA_042": "gain",
659
+ "PDA_043": "loss",
660
+ "PDA_045": "gain",
661
+ "PDA_047": "gain",
662
+ "PDA_048": "loss",
663
+ "PDA_049": "gain",
664
+ "PDA_050": "loss",
665
+ "PDA_052": "gain",
666
+ "PDA_053": "gain",
667
+ "PDA_054": "gain",
668
+ "PDA_055": "loss",
669
+ "PDA_056": "gain",
670
+ "PDA_057": "loss",
671
+ "PDA_058": "gain",
672
+ "PDA_059": "loss",
673
+ "PDA_062": "gain",
674
+ "PDA_064": "loss",
675
+ "PDA_065": "loss",
676
+ "PDA_066": "loss",
677
+ "PDA_067": "gain",
678
+ "PDA_070": "gain",
679
+ "PDA_072": "gain",
680
+ "PDA_073": "gain",
681
+ "PDA_074": "gain",
682
+ "PDA_075": "gain",
683
+ "PDA_076": "amp",
684
+ "PDA_078": "amp",
685
+ "PDA_080": "loss",
686
+ "PDA_084": "loss",
687
+ "PDA_085": "loss",
688
+ "PDA_088": "loss",
689
+ "PDA_090": "loss",
690
+ "PDA_092": "loss",
691
+ "PDA_093": "loss",
692
+ "PDA_094": "gain",
693
+ "PDA_095": "loss",
694
+ "PDA_096": "loss",
695
+ "PDA_100": "gain",
696
+ "PDA_101": "gain",
697
+ "PDA_102": "gain",
698
+ "PDA_105": "loss",
699
+ "PDA_106": "amp",
700
+ "PDA_107": "loss"
701
+ },
702
  "CDKN2A": {
703
  "PDA_001": "deep_del",
704
  "PDA_002": "loss",
 
799
  "PDA_107": "deep_del",
800
  "PDA_108": "deep_del"
801
  },
802
+ "CHEK2": {
803
+ "PDA_001": "deep_del",
804
+ "PDA_003": "loss",
805
+ "PDA_004": "loss",
806
+ "PDA_007": "loss",
807
+ "PDA_008": "deep_del",
808
+ "PDA_009": "loss",
809
+ "PDA_010": "loss",
810
+ "PDA_011": "loss",
811
+ "PDA_014": "loss",
812
+ "PDA_015": "gain",
813
+ "PDA_016": "loss",
814
+ "PDA_017": "loss",
815
+ "PDA_019": "loss",
816
+ "PDA_021": "loss",
817
+ "PDA_023": "loss",
818
+ "PDA_025": "deep_del",
819
+ "PDA_026": "loss",
820
+ "PDA_027": "loss",
821
+ "PDA_029": "gain",
822
+ "PDA_031": "gain",
823
+ "PDA_032": "gain",
824
+ "PDA_034": "loss",
825
+ "PDA_037": "loss",
826
+ "PDA_042": "gain",
827
+ "PDA_043": "gain",
828
+ "PDA_044": "loss",
829
+ "PDA_045": "gain",
830
+ "PDA_046": "loss",
831
+ "PDA_047": "gain",
832
+ "PDA_049": "loss",
833
+ "PDA_052": "loss",
834
+ "PDA_053": "loss",
835
+ "PDA_056": "gain",
836
+ "PDA_058": "gain",
837
+ "PDA_060": "gain",
838
+ "PDA_061": "gain",
839
+ "PDA_062": "loss",
840
+ "PDA_063": "loss",
841
+ "PDA_064": "gain",
842
+ "PDA_065": "gain",
843
+ "PDA_066": "gain",
844
+ "PDA_067": "gain",
845
+ "PDA_068": "loss",
846
+ "PDA_069": "gain",
847
+ "PDA_072": "loss",
848
+ "PDA_073": "gain",
849
+ "PDA_074": "loss",
850
+ "PDA_076": "loss",
851
+ "PDA_078": "loss",
852
+ "PDA_080": "loss",
853
+ "PDA_082": "gain",
854
+ "PDA_083": "gain",
855
+ "PDA_085": "loss",
856
+ "PDA_086": "gain",
857
+ "PDA_087": "gain",
858
+ "PDA_088": "loss",
859
+ "PDA_090": "loss",
860
+ "PDA_091": "gain",
861
+ "PDA_092": "gain",
862
+ "PDA_093": "gain",
863
+ "PDA_095": "loss",
864
+ "PDA_096": "loss",
865
+ "PDA_097": "loss",
866
+ "PDA_098": "loss",
867
+ "PDA_100": "gain",
868
+ "PDA_102": "gain",
869
+ "PDA_105": "loss",
870
+ "PDA_106": "loss",
871
+ "PDA_107": "loss"
872
+ },
873
  "ELAVL1": {
874
  "PDA_002": "loss",
875
  "PDA_004": "gain",
 
955
  "PDA_106": "deep_del",
956
  "PDA_109": "gain"
957
  },
958
+ "FANCC": {
959
+ "PDA_001": "gain",
960
+ "PDA_002": "loss",
961
+ "PDA_003": "gain",
962
+ "PDA_004": "loss",
963
+ "PDA_005": "loss",
964
+ "PDA_006": "gain",
965
+ "PDA_007": "loss",
966
+ "PDA_008": "loss",
967
+ "PDA_009": "gain",
968
+ "PDA_010": "gain",
969
+ "PDA_014": "loss",
970
+ "PDA_017": "loss",
971
+ "PDA_018": "loss",
972
+ "PDA_019": "loss",
973
+ "PDA_020": "amp",
974
+ "PDA_022": "gain",
975
+ "PDA_023": "loss",
976
+ "PDA_027": "gain",
977
+ "PDA_030": "loss",
978
+ "PDA_031": "gain",
979
+ "PDA_032": "loss",
980
+ "PDA_033": "gain",
981
+ "PDA_034": "amp",
982
+ "PDA_037": "gain",
983
+ "PDA_039": "loss",
984
+ "PDA_042": "loss",
985
+ "PDA_044": "gain",
986
+ "PDA_045": "loss",
987
+ "PDA_046": "loss",
988
+ "PDA_049": "gain",
989
+ "PDA_051": "loss",
990
+ "PDA_052": "loss",
991
+ "PDA_054": "loss",
992
+ "PDA_055": "gain",
993
+ "PDA_058": "loss",
994
+ "PDA_061": "loss",
995
+ "PDA_062": "loss",
996
+ "PDA_063": "loss",
997
+ "PDA_068": "gain",
998
+ "PDA_069": "loss",
999
+ "PDA_070": "loss",
1000
+ "PDA_072": "loss",
1001
+ "PDA_073": "loss",
1002
+ "PDA_076": "loss",
1003
+ "PDA_077": "loss",
1004
+ "PDA_078": "loss",
1005
+ "PDA_080": "loss",
1006
+ "PDA_082": "loss",
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+ "PDA_083": "gain",
1008
+ "PDA_084": "loss",
1009
+ "PDA_086": "loss",
1010
+ "PDA_087": "loss",
1011
+ "PDA_088": "loss",
1012
+ "PDA_089": "loss",
1013
+ "PDA_091": "loss",
1014
+ "PDA_092": "loss",
1015
+ "PDA_096": "loss",
1016
+ "PDA_100": "loss",
1017
+ "PDA_101": "loss",
1018
+ "PDA_104": "loss",
1019
+ "PDA_105": "gain"
1020
+ },
1021
  "GATA6": {
1022
  "PDA_001": "gain",
1023
  "PDA_002": "gain",
 
1307
  "PDA_035": "loss",
1308
  "PDA_036": "gain",
1309
  "PDA_037": "loss",
1310
+ "PDA_038": "gain",
1311
+ "PDA_041": "gain",
1312
+ "PDA_042": "loss",
1313
+ "PDA_043": "loss",
1314
+ "PDA_045": "loss",
1315
+ "PDA_048": "amp",
1316
+ "PDA_049": "amp",
1317
+ "PDA_050": "loss",
1318
+ "PDA_052": "loss",
1319
+ "PDA_054": "gain",
1320
+ "PDA_055": "gain",
1321
+ "PDA_057": "gain",
1322
+ "PDA_058": "loss",
1323
+ "PDA_059": "loss",
1324
+ "PDA_060": "loss",
1325
+ "PDA_061": "loss",
1326
+ "PDA_062": "loss",
1327
+ "PDA_064": "loss",
1328
+ "PDA_065": "gain",
1329
+ "PDA_066": "amp",
1330
+ "PDA_067": "loss",
1331
+ "PDA_068": "gain",
1332
+ "PDA_070": "loss",
1333
+ "PDA_072": "loss",
1334
+ "PDA_073": "gain",
1335
+ "PDA_074": "gain",
1336
+ "PDA_075": "gain",
1337
+ "PDA_076": "amp",
1338
+ "PDA_078": "gain",
1339
+ "PDA_079": "gain",
1340
+ "PDA_080": "loss",
1341
+ "PDA_081": "loss",
1342
+ "PDA_082": "gain",
1343
+ "PDA_083": "gain",
1344
+ "PDA_086": "amp",
1345
+ "PDA_087": "loss",
1346
+ "PDA_088": "gain",
1347
+ "PDA_091": "loss",
1348
+ "PDA_092": "loss",
1349
+ "PDA_094": "gain",
1350
+ "PDA_095": "loss",
1351
+ "PDA_096": "gain",
1352
+ "PDA_100": "gain",
1353
+ "PDA_102": "loss",
1354
+ "PDA_103": "gain",
1355
+ "PDA_105": "loss",
1356
+ "PDA_106": "amp"
1357
+ },
1358
+ "MLH1": {
1359
+ "PDA_004": "deep_del",
1360
+ "PDA_005": "gain",
1361
+ "PDA_007": "loss",
1362
+ "PDA_008": "loss",
1363
+ "PDA_009": "loss",
1364
+ "PDA_010": "gain",
1365
+ "PDA_011": "loss",
1366
+ "PDA_012": "deep_del",
1367
+ "PDA_013": "deep_del",
1368
+ "PDA_014": "gain",
1369
+ "PDA_016": "loss",
1370
+ "PDA_017": "loss",
1371
+ "PDA_019": "loss",
1372
+ "PDA_022": "gain",
1373
+ "PDA_023": "loss",
1374
+ "PDA_024": "loss",
1375
+ "PDA_027": "gain",
1376
+ "PDA_029": "loss",
1377
+ "PDA_030": "loss",
1378
+ "PDA_031": "loss",
1379
+ "PDA_032": "loss",
1380
+ "PDA_034": "amp",
1381
+ "PDA_035": "loss",
1382
+ "PDA_036": "deep_del",
1383
+ "PDA_037": "loss",
1384
+ "PDA_038": "loss",
1385
+ "PDA_039": "gain",
1386
+ "PDA_041": "loss",
1387
+ "PDA_042": "gain",
1388
+ "PDA_045": "loss",
1389
+ "PDA_046": "loss",
1390
+ "PDA_047": "loss",
1391
+ "PDA_049": "loss",
1392
+ "PDA_052": "loss",
1393
+ "PDA_053": "loss",
1394
+ "PDA_059": "loss",
1395
+ "PDA_060": "loss",
1396
+ "PDA_061": "loss",
1397
+ "PDA_062": "loss",
1398
+ "PDA_063": "loss",
1399
+ "PDA_064": "loss",
1400
+ "PDA_065": "loss",
1401
+ "PDA_066": "loss",
1402
+ "PDA_069": "loss",
1403
+ "PDA_072": "loss",
1404
+ "PDA_073": "loss",
1405
+ "PDA_075": "loss",
1406
+ "PDA_076": "gain",
1407
+ "PDA_077": "loss",
1408
+ "PDA_078": "gain",
1409
+ "PDA_080": "loss",
1410
+ "PDA_084": "loss",
1411
+ "PDA_086": "loss",
1412
+ "PDA_088": "loss",
1413
+ "PDA_089": "loss",
1414
+ "PDA_090": "loss",
1415
+ "PDA_091": "loss",
1416
+ "PDA_092": "loss",
1417
+ "PDA_094": "loss",
1418
+ "PDA_097": "loss",
1419
+ "PDA_100": "loss",
1420
+ "PDA_101": "loss",
1421
+ "PDA_105": "gain",
1422
+ "PDA_106": "gain"
1423
+ },
1424
+ "MSH2": {
1425
+ "PDA_001": "loss",
1426
+ "PDA_005": "gain",
1427
+ "PDA_007": "gain",
1428
+ "PDA_008": "loss",
1429
+ "PDA_009": "loss",
1430
+ "PDA_010": "gain",
1431
+ "PDA_011": "gain",
1432
+ "PDA_013": "loss",
1433
+ "PDA_016": "loss",
1434
+ "PDA_017": "deep_del",
1435
+ "PDA_019": "loss",
1436
+ "PDA_021": "loss",
1437
+ "PDA_022": "gain",
1438
+ "PDA_023": "loss",
1439
+ "PDA_027": "gain",
1440
+ "PDA_029": "loss",
1441
+ "PDA_032": "amp",
1442
+ "PDA_033": "gain",
1443
+ "PDA_034": "amp",
1444
+ "PDA_037": "loss",
1445
+ "PDA_041": "loss",
1446
+ "PDA_043": "loss",
1447
+ "PDA_046": "gain",
1448
+ "PDA_048": "loss",
1449
+ "PDA_053": "gain",
1450
+ "PDA_054": "gain",
1451
+ "PDA_055": "gain",
1452
+ "PDA_058": "loss",
1453
+ "PDA_059": "loss",
1454
+ "PDA_060": "loss",
1455
+ "PDA_064": "loss",
1456
+ "PDA_068": "loss",
1457
+ "PDA_071": "deep_del",
1458
+ "PDA_072": "loss",
1459
+ "PDA_073": "loss",
1460
+ "PDA_074": "gain",
1461
+ "PDA_076": "gain",
1462
+ "PDA_086": "gain",
1463
+ "PDA_087": "loss",
1464
+ "PDA_089": "loss",
1465
+ "PDA_090": "gain",
1466
+ "PDA_091": "loss",
1467
+ "PDA_092": "loss",
1468
+ "PDA_093": "loss",
1469
+ "PDA_096": "gain",
1470
+ "PDA_100": "gain",
1471
+ "PDA_106": "gain",
1472
+ "PDA_107": "loss"
1473
+ },
1474
+ "MSH6": {
1475
+ "PDA_001": "loss",
1476
+ "PDA_005": "gain",
1477
+ "PDA_007": "gain",
1478
+ "PDA_008": "loss",
1479
+ "PDA_009": "loss",
1480
+ "PDA_010": "gain",
1481
+ "PDA_011": "gain",
1482
+ "PDA_013": "loss",
1483
+ "PDA_016": "loss",
1484
+ "PDA_017": "deep_del",
1485
+ "PDA_019": "loss",
1486
+ "PDA_021": "loss",
1487
+ "PDA_022": "gain",
1488
+ "PDA_023": "loss",
1489
+ "PDA_027": "gain",
1490
+ "PDA_029": "loss",
1491
+ "PDA_032": "gain",
1492
+ "PDA_033": "gain",
1493
+ "PDA_037": "loss",
1494
+ "PDA_041": "loss",
1495
  "PDA_043": "loss",
1496
+ "PDA_046": "gain",
1497
+ "PDA_048": "loss",
1498
+ "PDA_053": "gain",
 
 
1499
  "PDA_054": "gain",
1500
  "PDA_055": "gain",
 
1501
  "PDA_058": "loss",
1502
  "PDA_059": "loss",
1503
  "PDA_060": "loss",
 
 
1504
  "PDA_064": "loss",
1505
+ "PDA_068": "loss",
 
 
 
 
1506
  "PDA_072": "loss",
1507
+ "PDA_073": "loss",
1508
  "PDA_074": "gain",
1509
+ "PDA_076": "gain",
1510
+ "PDA_086": "gain",
 
 
 
 
 
 
 
1511
  "PDA_087": "loss",
1512
+ "PDA_089": "loss",
1513
+ "PDA_090": "gain",
1514
  "PDA_091": "loss",
1515
  "PDA_092": "loss",
1516
+ "PDA_093": "loss",
 
1517
  "PDA_096": "gain",
1518
  "PDA_100": "gain",
1519
+ "PDA_106": "gain",
1520
+ "PDA_107": "loss"
 
 
1521
  },
1522
  "MYC": {
1523
  "PDA_002": "amp",
 
1660
  "PDA_107": "gain",
1661
  "PDA_109": "gain"
1662
  },
1663
+ "PMS2": {
1664
+ "PDA_004": "gain",
1665
+ "PDA_008": "deep_del",
1666
+ "PDA_011": "loss",
1667
+ "PDA_014": "gain",
1668
+ "PDA_015": "amp",
1669
+ "PDA_016": "gain",
1670
+ "PDA_017": "loss",
1671
+ "PDA_018": "gain",
1672
+ "PDA_019": "gain",
1673
+ "PDA_021": "gain",
1674
+ "PDA_022": "gain",
1675
+ "PDA_023": "deep_del",
1676
+ "PDA_024": "gain",
1677
+ "PDA_026": "gain",
1678
+ "PDA_027": "gain",
1679
+ "PDA_028": "gain",
1680
+ "PDA_029": "loss",
1681
+ "PDA_031": "gain",
1682
+ "PDA_032": "amp",
1683
+ "PDA_033": "gain",
1684
+ "PDA_034": "amp",
1685
+ "PDA_035": "gain",
1686
+ "PDA_037": "gain",
1687
+ "PDA_042": "gain",
1688
+ "PDA_043": "gain",
1689
+ "PDA_045": "gain",
1690
+ "PDA_046": "gain",
1691
+ "PDA_047": "gain",
1692
+ "PDA_049": "gain",
1693
+ "PDA_052": "gain",
1694
+ "PDA_053": "gain",
1695
+ "PDA_054": "gain",
1696
+ "PDA_058": "gain",
1697
+ "PDA_059": "loss",
1698
+ "PDA_060": "gain",
1699
+ "PDA_061": "gain",
1700
+ "PDA_062": "gain",
1701
+ "PDA_063": "loss",
1702
+ "PDA_064": "amp",
1703
+ "PDA_065": "gain",
1704
+ "PDA_066": "amp",
1705
+ "PDA_067": "gain",
1706
+ "PDA_068": "gain",
1707
+ "PDA_070": "gain",
1708
+ "PDA_073": "gain",
1709
+ "PDA_074": "gain",
1710
+ "PDA_075": "amp",
1711
+ "PDA_076": "gain",
1712
+ "PDA_078": "gain",
1713
+ "PDA_079": "gain",
1714
+ "PDA_080": "amp",
1715
+ "PDA_083": "gain",
1716
+ "PDA_084": "gain",
1717
+ "PDA_086": "gain",
1718
+ "PDA_087": "gain",
1719
+ "PDA_088": "gain",
1720
+ "PDA_090": "gain",
1721
+ "PDA_091": "gain",
1722
+ "PDA_092": "loss",
1723
+ "PDA_093": "gain",
1724
+ "PDA_095": "gain",
1725
+ "PDA_096": "gain",
1726
+ "PDA_097": "gain",
1727
+ "PDA_098": "loss",
1728
+ "PDA_100": "gain",
1729
+ "PDA_101": "gain",
1730
+ "PDA_102": "gain",
1731
+ "PDA_105": "amp",
1732
+ "PDA_106": "gain"
1733
+ },
1734
+ "RAD51C": {
1735
+ "PDA_001": "deep_del",
1736
+ "PDA_002": "loss",
1737
+ "PDA_003": "loss",
1738
+ "PDA_004": "gain",
1739
+ "PDA_005": "gain",
1740
+ "PDA_008": "deep_del",
1741
+ "PDA_009": "loss",
1742
+ "PDA_010": "gain",
1743
+ "PDA_011": "gain",
1744
+ "PDA_013": "loss",
1745
+ "PDA_014": "loss",
1746
+ "PDA_015": "gain",
1747
+ "PDA_016": "gain",
1748
+ "PDA_017": "loss",
1749
+ "PDA_021": "loss",
1750
+ "PDA_023": "deep_del",
1751
+ "PDA_028": "loss",
1752
+ "PDA_029": "loss",
1753
+ "PDA_030": "loss",
1754
+ "PDA_032": "gain",
1755
+ "PDA_034": "gain",
1756
+ "PDA_035": "loss",
1757
+ "PDA_037": "loss",
1758
+ "PDA_039": "loss",
1759
+ "PDA_040": "loss",
1760
+ "PDA_041": "gain",
1761
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1762
+ "PDA_043": "loss",
1763
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1764
+ "PDA_046": "loss",
1765
+ "PDA_047": "loss",
1766
+ "PDA_048": "loss",
1767
+ "PDA_049": "gain",
1768
+ "PDA_050": "loss",
1769
+ "PDA_052": "loss",
1770
+ "PDA_053": "gain",
1771
+ "PDA_054": "gain",
1772
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1773
+ "PDA_056": "gain",
1774
+ "PDA_057": "loss",
1775
+ "PDA_058": "gain",
1776
+ "PDA_059": "loss",
1777
+ "PDA_062": "gain",
1778
+ "PDA_064": "loss",
1779
+ "PDA_065": "loss",
1780
+ "PDA_066": "loss",
1781
+ "PDA_067": "gain",
1782
+ "PDA_070": "loss",
1783
+ "PDA_072": "gain",
1784
+ "PDA_073": "gain",
1785
+ "PDA_074": "gain",
1786
+ "PDA_076": "amp",
1787
+ "PDA_078": "amp",
1788
+ "PDA_080": "gain",
1789
+ "PDA_084": "loss",
1790
+ "PDA_085": "loss",
1791
+ "PDA_088": "loss",
1792
+ "PDA_090": "loss",
1793
+ "PDA_092": "loss",
1794
+ "PDA_093": "loss",
1795
+ "PDA_094": "gain",
1796
+ "PDA_095": "loss",
1797
+ "PDA_096": "loss",
1798
+ "PDA_100": "gain",
1799
+ "PDA_101": "gain",
1800
+ "PDA_102": "gain",
1801
+ "PDA_105": "loss",
1802
+ "PDA_106": "amp",
1803
+ "PDA_107": "loss"
1804
+ },
1805
+ "RAD51D": {
1806
+ "PDA_002": "loss",
1807
+ "PDA_003": "loss",
1808
+ "PDA_005": "gain",
1809
+ "PDA_008": "gain",
1810
+ "PDA_009": "loss",
1811
+ "PDA_010": "loss",
1812
+ "PDA_011": "amp",
1813
+ "PDA_013": "gain",
1814
+ "PDA_014": "gain",
1815
+ "PDA_015": "gain",
1816
+ "PDA_016": "gain",
1817
+ "PDA_017": "gain",
1818
+ "PDA_019": "amp",
1819
+ "PDA_023": "gain",
1820
+ "PDA_025": "gain",
1821
+ "PDA_027": "loss",
1822
+ "PDA_028": "loss",
1823
+ "PDA_031": "gain",
1824
+ "PDA_032": "gain",
1825
+ "PDA_034": "gain",
1826
+ "PDA_035": "gain",
1827
+ "PDA_037": "amp",
1828
+ "PDA_039": "loss",
1829
+ "PDA_041": "gain",
1830
+ "PDA_042": "gain",
1831
+ "PDA_045": "gain",
1832
+ "PDA_046": "gain",
1833
+ "PDA_047": "gain",
1834
+ "PDA_049": "gain",
1835
+ "PDA_052": "gain",
1836
+ "PDA_053": "gain",
1837
+ "PDA_055": "gain",
1838
+ "PDA_056": "gain",
1839
+ "PDA_057": "loss",
1840
+ "PDA_058": "gain",
1841
+ "PDA_059": "gain",
1842
+ "PDA_060": "gain",
1843
+ "PDA_061": "gain",
1844
+ "PDA_062": "gain",
1845
+ "PDA_064": "gain",
1846
+ "PDA_065": "gain",
1847
+ "PDA_066": "gain",
1848
+ "PDA_067": "gain",
1849
+ "PDA_070": "gain",
1850
+ "PDA_072": "gain",
1851
+ "PDA_073": "gain",
1852
+ "PDA_074": "gain",
1853
+ "PDA_075": "gain",
1854
+ "PDA_076": "loss",
1855
+ "PDA_078": "loss",
1856
+ "PDA_081": "loss",
1857
+ "PDA_083": "gain",
1858
+ "PDA_085": "gain",
1859
+ "PDA_087": "gain",
1860
+ "PDA_088": "gain",
1861
+ "PDA_091": "gain",
1862
+ "PDA_094": "gain",
1863
+ "PDA_095": "gain",
1864
+ "PDA_096": "gain",
1865
+ "PDA_100": "gain",
1866
+ "PDA_101": "gain",
1867
+ "PDA_102": "gain",
1868
+ "PDA_105": "loss",
1869
+ "PDA_106": "loss",
1870
+ "PDA_107": "gain"
1871
+ },
1872
  "RNF43": {
1873
  "PDA_001": "loss",
1874
  "PDA_002": "loss",
 
2202
  }
2203
  },
2204
  "counts": {
2205
+ "n_cnv_cells": 1920,
2206
+ "n_genes": 29,
2207
+ "n_mutated_cells": 229,
2208
  "n_samples": 109
2209
  },
2210
+ "curated_at": "2026-08-05T18:59:36.385316+00:00",
2211
  "genes_assayed": null,
2212
  "modalities": {
2213
  "cnv": true,
 
2246
  "PDA_100": "truncating",
2247
  "PDA_105": "missense"
2248
  },
2249
+ "CHEK2": {
2250
+ "PDA_049": "missense",
2251
+ "PDA_077": "missense",
2252
+ "PDA_093": "missense"
2253
+ },
2254
  "GNAS": {
2255
  "PDA_043": "hotspot",
2256
  "PDA_065": "hotspot",
 
2377
  "PDA_108": "hotspot",
2378
  "PDA_109": "hotspot"
2379
  },
2380
+ "MSH2": {
2381
+ "PDA_084": "truncating",
2382
+ "PDA_104": "truncating",
2383
+ "PDA_105": "truncating"
2384
+ },
2385
+ "MSH6": {
2386
+ "PDA_057": "missense"
2387
+ },
2388
  "MYC": {
2389
  "PDA_044": "truncating"
2390
  },
 
2504
  "BRCA1",
2505
  "BRCA2",
2506
  "PALB2",
2507
+ "ATM",
2508
+ "RAD51C",
2509
+ "RAD51D",
2510
+ "BRIP1",
2511
+ "BARD1",
2512
+ "CHEK2",
2513
+ "FANCC",
2514
+ "MLH1",
2515
+ "MSH2",
2516
+ "MSH6",
2517
+ "PMS2"
2518
  ],
2519
  "profiled": {
2520
  "cnv": null,
 
2540
  "CDKN2A\tPDA_093": "CDKN2A E69*",
2541
  "CDKN2A\tPDA_100": "CDKN2A E2Sfs*24",
2542
  "CDKN2A\tPDA_105": "CDKN2A P48R",
2543
+ "CHEK2\tPDA_049": "CHEK2 K373E",
2544
+ "CHEK2\tPDA_077": "CHEK2 S49C",
2545
+ "CHEK2\tPDA_093": "CHEK2 K373E",
2546
  "GNAS\tPDA_043": "GNAS R201H",
2547
  "GNAS\tPDA_065": "GNAS R201C",
2548
  "GNAS\tPDA_068": "GNAS R201C",
 
2659
  "KRAS\tPDA_107": "KRAS G12V",
2660
  "KRAS\tPDA_108": "KRAS G12D",
2661
  "KRAS\tPDA_109": "KRAS G12D",
2662
+ "MSH2\tPDA_084": "MSH2 Q344*",
2663
+ "MSH2\tPDA_104": "MSH2 X314_splice",
2664
+ "MSH2\tPDA_105": "MSH2 X314_splice",
2665
+ "MSH6\tPDA_057": "MSH6 R791C",
2666
  "MYC\tPDA_044": "MYC S292*",
2667
  "PALB2\tPDA_086": "PALB2 W898Efs*29",
2668
  "RNF43\tPDA_028": "RNF43 I186T",
src/resources/curated/pancreas_cptac_gdc.json CHANGED
@@ -435,6 +435,25 @@
435
  "C3N-03839-01": "gain",
436
  "C3N-03853-01": "gain"
437
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
438
  "BRCA1": {
439
  "C3L-00017-02": "loss",
440
  "C3L-00598-03": "gain",
@@ -480,6 +499,40 @@
480
  "C3N-04126-01": "loss",
481
  "C3N-04282-01": "loss"
482
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
483
  "CDKN2A": {
484
  "C3L-00017-02": "loss",
485
  "C3L-00277-03": "deep_del",
@@ -534,6 +587,30 @@
534
  "C3N-04282-01": "loss",
535
  "C3N-04283-03": "deep_del"
536
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
537
  "ELAVL1": {
538
  "C3L-01687-01": "loss",
539
  "C3L-02118-02": "loss",
@@ -560,6 +637,34 @@
560
  "C3N-04126-01": "loss",
561
  "C3N-04282-01": "loss"
562
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
563
  "GATA6": {
564
  "C3L-00277-03": "gain",
565
  "C3L-00589-02": "gain",
@@ -718,6 +823,79 @@
718
  "C3N-04126-01": "gain",
719
  "C3N-04283-03": "loss"
720
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
721
  "MYC": {
722
  "C3L-00102-01": "gain",
723
  "C3L-00598-03": "gain",
@@ -776,6 +954,89 @@
776
  "C3N-03839-01": "gain",
777
  "C3N-03853-01": "gain"
778
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
779
  "RNF43": {
780
  "C3L-00017-02": "loss",
781
  "C3L-00598-03": "gain",
@@ -921,12 +1182,12 @@
921
  }
922
  },
923
  "counts": {
924
- "n_cnv_cells": 511,
925
- "n_genes": 19,
926
- "n_mutated_cells": 411,
927
  "n_samples": 183
928
  },
929
- "curated_at": "2026-07-28T23:40:06.073894+00:00",
930
  "genes_assayed": null,
931
  "modalities": {
932
  "cnv": true,
@@ -961,6 +1222,11 @@
961
  "C3L-02613-03": "truncating",
962
  "C3N-02573-02": "missense"
963
  },
 
 
 
 
 
964
  "CDKN2A": {
965
  "C3L-00102-01": "missense",
966
  "C3L-01037-01": "missense",
@@ -1188,12 +1454,21 @@
1188
  "C3N-04282-01": "hotspot",
1189
  "C3N-04283-03": "hotspot"
1190
  },
 
 
 
 
 
 
1191
  "MYC": {
1192
  "C3N-00516-01": "missense"
1193
  },
1194
  "PALB2": {
1195
  "C3N-03069-01": "truncating"
1196
  },
 
 
 
1197
  "RNF43": {
1198
  "C3L-02463-01": "truncating",
1199
  "C3L-02463-02": "truncating",
@@ -1401,7 +1676,17 @@
1401
  "BRCA1",
1402
  "BRCA2",
1403
  "PALB2",
1404
- "ATM"
 
 
 
 
 
 
 
 
 
 
1405
  ],
1406
  "profiled": {
1407
  "cnv": [
@@ -1757,6 +2042,9 @@
1757
  "BRCA2\tC3L-01032-01": "BRCA2 S1632Yfs*6",
1758
  "BRCA2\tC3L-02613-03": "BRCA2 F266Lfs*11",
1759
  "BRCA2\tC3N-02573-02": "BRCA2 R2842C",
 
 
 
1760
  "CDKN2A\tC3L-00102-01": "CDKN2A L64_L65del",
1761
  "CDKN2A\tC3L-01037-01": "CDKN2A D84N",
1762
  "CDKN2A\tC3L-01039-03": "CDKN2A X153_splice",
@@ -1970,8 +2258,11 @@
1970
  "KRAS\tC3N-04126-01": "KRAS G12R",
1971
  "KRAS\tC3N-04282-01": "KRAS Q61H",
1972
  "KRAS\tC3N-04283-03": "KRAS G12D",
 
 
1973
  "MYC\tC3N-00516-01": "MYC S237C",
1974
  "PALB2\tC3N-03069-01": "PALB2 S691Rfs*14",
 
1975
  "RNF43\tC3L-02463-01": "RNF43 Y457Sfs*45",
1976
  "RNF43\tC3L-02463-02": "RNF43 Y457Sfs*45",
1977
  "RNF43\tC3L-02604-01": "RNF43 Q344*",
 
435
  "C3N-03839-01": "gain",
436
  "C3N-03853-01": "gain"
437
  },
438
+ "BARD1": {
439
+ "C3L-00598-03": "gain",
440
+ "C3L-01160-01": "gain",
441
+ "C3L-01689-02": "gain",
442
+ "C3L-03388-02": "gain",
443
+ "C3L-03639-01": "gain",
444
+ "C3N-00249-03": "gain",
445
+ "C3N-00302-02": "gain",
446
+ "C3N-00511-03": "gain",
447
+ "C3N-01716-03": "gain",
448
+ "C3N-01897-01": "gain",
449
+ "C3N-02585-02": "gain",
450
+ "C3N-02768-01": "gain",
451
+ "C3N-03000-02": "gain",
452
+ "C3N-03665-01": "gain",
453
+ "C3N-03666-01": "gain",
454
+ "C3N-03839-01": "gain",
455
+ "C3N-03853-01": "gain"
456
+ },
457
  "BRCA1": {
458
  "C3L-00017-02": "loss",
459
  "C3L-00598-03": "gain",
 
499
  "C3N-04126-01": "loss",
500
  "C3N-04282-01": "loss"
501
  },
502
+ "BRIP1": {
503
+ "C3L-00017-02": "loss",
504
+ "C3L-00598-03": "gain",
505
+ "C3L-01031-01": "loss",
506
+ "C3L-01160-01": "gain",
507
+ "C3L-01328-01": "gain",
508
+ "C3L-02463-01": "deep_del",
509
+ "C3L-02604-01": "loss",
510
+ "C3L-02899-01": "gain",
511
+ "C3L-03388-02": "gain",
512
+ "C3L-03639-01": "gain",
513
+ "C3L-04080-03": "loss",
514
+ "C3N-00302-02": "gain",
515
+ "C3N-00516-01": "loss",
516
+ "C3N-00709-01": "loss",
517
+ "C3N-01167-02": "loss",
518
+ "C3N-01716-03": "gain",
519
+ "C3N-01897-01": "gain",
520
+ "C3N-02010-03": "loss",
521
+ "C3N-02585-02": "gain",
522
+ "C3N-02589-01": "loss",
523
+ "C3N-02590-01": "gain",
524
+ "C3N-02768-01": "gain",
525
+ "C3N-03039-01": "loss",
526
+ "C3N-03061-02": "gain",
527
+ "C3N-03426-01": "gain",
528
+ "C3N-03430-02": "loss",
529
+ "C3N-03439-02": "gain",
530
+ "C3N-03665-01": "gain",
531
+ "C3N-03754-01": "loss",
532
+ "C3N-03839-01": "gain",
533
+ "C3N-03853-01": "gain",
534
+ "C3N-03884-02": "gain"
535
+ },
536
  "CDKN2A": {
537
  "C3L-00017-02": "loss",
538
  "C3L-00277-03": "deep_del",
 
587
  "C3N-04282-01": "loss",
588
  "C3N-04283-03": "deep_del"
589
  },
590
+ "CHEK2": {
591
+ "C3L-00017-02": "loss",
592
+ "C3L-00598-03": "gain",
593
+ "C3L-01032-01": "loss",
594
+ "C3L-01160-01": "gain",
595
+ "C3L-01687-01": "loss",
596
+ "C3L-01689-02": "gain",
597
+ "C3L-01971-02": "loss",
598
+ "C3L-02604-01": "loss",
599
+ "C3L-03639-01": "gain",
600
+ "C3L-03743-01": "loss",
601
+ "C3N-00709-01": "loss",
602
+ "C3N-01167-02": "loss",
603
+ "C3N-01716-03": "gain",
604
+ "C3N-01897-01": "gain",
605
+ "C3N-02768-01": "gain",
606
+ "C3N-03061-02": "loss",
607
+ "C3N-03173-01": "loss",
608
+ "C3N-03665-01": "loss",
609
+ "C3N-03754-01": "loss",
610
+ "C3N-03839-01": "gain",
611
+ "C3N-03853-01": "gain",
612
+ "C3N-04282-01": "loss"
613
+ },
614
  "ELAVL1": {
615
  "C3L-01687-01": "loss",
616
  "C3L-02118-02": "loss",
 
637
  "C3N-04126-01": "loss",
638
  "C3N-04282-01": "loss"
639
  },
640
+ "FANCC": {
641
+ "C3L-01031-01": "loss",
642
+ "C3L-01160-01": "gain",
643
+ "C3L-01328-01": "loss",
644
+ "C3L-01689-02": "gain",
645
+ "C3L-02463-01": "deep_del",
646
+ "C3L-02809-04": "loss",
647
+ "C3L-03388-02": "gain",
648
+ "C3L-03639-01": "gain",
649
+ "C3L-03743-01": "loss",
650
+ "C3L-04072-01": "loss",
651
+ "C3L-04080-03": "gain",
652
+ "C3N-00249-03": "gain",
653
+ "C3N-00302-02": "gain",
654
+ "C3N-00511-03": "gain",
655
+ "C3N-01716-03": "gain",
656
+ "C3N-02010-03": "loss",
657
+ "C3N-02585-02": "gain",
658
+ "C3N-03039-01": "loss",
659
+ "C3N-03061-02": "loss",
660
+ "C3N-03190-02": "loss",
661
+ "C3N-03426-01": "loss",
662
+ "C3N-03754-01": "loss",
663
+ "C3N-03839-01": "gain",
664
+ "C3N-04119-02": "loss",
665
+ "C3N-04126-01": "loss",
666
+ "C3N-04282-01": "loss"
667
+ },
668
  "GATA6": {
669
  "C3L-00277-03": "gain",
670
  "C3L-00589-02": "gain",
 
823
  "C3N-04126-01": "gain",
824
  "C3N-04283-03": "loss"
825
  },
826
+ "MLH1": {
827
+ "C3L-00598-03": "gain",
828
+ "C3L-01160-01": "gain",
829
+ "C3L-02613-03": "loss",
830
+ "C3L-02809-04": "loss",
831
+ "C3L-03388-02": "gain",
832
+ "C3L-03639-01": "gain",
833
+ "C3L-03743-01": "loss",
834
+ "C3L-04072-01": "loss",
835
+ "C3N-00249-03": "gain",
836
+ "C3N-00302-02": "gain",
837
+ "C3N-00511-03": "gain",
838
+ "C3N-00709-01": "gain",
839
+ "C3N-01167-02": "loss",
840
+ "C3N-01715-02": "loss",
841
+ "C3N-01716-03": "gain",
842
+ "C3N-01897-01": "gain",
843
+ "C3N-02579-02": "loss",
844
+ "C3N-02585-02": "gain",
845
+ "C3N-02589-01": "loss",
846
+ "C3N-02971-01": "loss",
847
+ "C3N-03039-01": "loss",
848
+ "C3N-03061-02": "loss",
849
+ "C3N-03426-01": "loss",
850
+ "C3N-03665-01": "loss",
851
+ "C3N-03754-01": "loss",
852
+ "C3N-03853-01": "gain",
853
+ "C3N-03884-02": "loss",
854
+ "C3N-04126-01": "loss"
855
+ },
856
+ "MSH2": {
857
+ "C3L-00598-03": "gain",
858
+ "C3L-01160-01": "gain",
859
+ "C3L-01689-02": "gain",
860
+ "C3L-03388-02": "gain",
861
+ "C3L-03639-01": "gain",
862
+ "C3L-03743-01": "loss",
863
+ "C3N-00249-03": "gain",
864
+ "C3N-00302-02": "gain",
865
+ "C3N-00511-03": "gain",
866
+ "C3N-01716-03": "gain",
867
+ "C3N-01897-01": "gain",
868
+ "C3N-02585-02": "gain",
869
+ "C3N-02589-01": "loss",
870
+ "C3N-02768-01": "gain",
871
+ "C3N-03061-02": "loss",
872
+ "C3N-03173-01": "loss",
873
+ "C3N-03666-01": "gain",
874
+ "C3N-03754-01": "loss",
875
+ "C3N-03839-01": "gain",
876
+ "C3N-04126-01": "loss"
877
+ },
878
+ "MSH6": {
879
+ "C3L-00598-03": "gain",
880
+ "C3L-01160-01": "gain",
881
+ "C3L-01689-02": "gain",
882
+ "C3L-03388-02": "gain",
883
+ "C3L-03639-01": "gain",
884
+ "C3L-03743-01": "loss",
885
+ "C3N-00249-03": "gain",
886
+ "C3N-00302-02": "gain",
887
+ "C3N-00511-03": "gain",
888
+ "C3N-01716-03": "gain",
889
+ "C3N-01897-01": "gain",
890
+ "C3N-02585-02": "gain",
891
+ "C3N-02589-01": "loss",
892
+ "C3N-02768-01": "gain",
893
+ "C3N-03061-02": "loss",
894
+ "C3N-03173-01": "loss",
895
+ "C3N-03666-01": "gain",
896
+ "C3N-03754-01": "loss",
897
+ "C3N-03839-01": "gain"
898
+ },
899
  "MYC": {
900
  "C3L-00102-01": "gain",
901
  "C3L-00598-03": "gain",
 
954
  "C3N-03839-01": "gain",
955
  "C3N-03853-01": "gain"
956
  },
957
+ "PMS2": {
958
+ "C3L-00017-02": "gain",
959
+ "C3L-00598-03": "gain",
960
+ "C3L-01032-01": "gain",
961
+ "C3L-01160-01": "gain",
962
+ "C3L-01689-02": "gain",
963
+ "C3L-02613-03": "gain",
964
+ "C3L-03388-02": "gain",
965
+ "C3L-03635-02": "gain",
966
+ "C3L-03639-01": "amp",
967
+ "C3N-00249-03": "gain",
968
+ "C3N-00302-02": "gain",
969
+ "C3N-00511-03": "gain",
970
+ "C3N-01167-02": "gain",
971
+ "C3N-01716-03": "gain",
972
+ "C3N-01897-01": "gain",
973
+ "C3N-02585-02": "gain",
974
+ "C3N-02768-01": "gain",
975
+ "C3N-03426-01": "gain",
976
+ "C3N-03666-01": "gain",
977
+ "C3N-03839-01": "gain",
978
+ "C3N-03853-01": "gain"
979
+ },
980
+ "RAD51C": {
981
+ "C3L-00017-02": "loss",
982
+ "C3L-00598-03": "gain",
983
+ "C3L-01031-01": "loss",
984
+ "C3L-01160-01": "gain",
985
+ "C3L-01328-01": "gain",
986
+ "C3L-02463-01": "deep_del",
987
+ "C3L-02604-01": "loss",
988
+ "C3L-03388-02": "gain",
989
+ "C3L-03394-03": "gain",
990
+ "C3L-03624-02": "loss",
991
+ "C3L-03639-01": "gain",
992
+ "C3L-04080-03": "loss",
993
+ "C3N-00302-02": "gain",
994
+ "C3N-00516-01": "loss",
995
+ "C3N-00709-01": "loss",
996
+ "C3N-01167-02": "loss",
997
+ "C3N-01716-03": "gain",
998
+ "C3N-01897-01": "gain",
999
+ "C3N-02010-03": "loss",
1000
+ "C3N-02585-02": "gain",
1001
+ "C3N-02589-01": "loss",
1002
+ "C3N-02768-01": "gain",
1003
+ "C3N-03039-01": "loss",
1004
+ "C3N-03061-02": "gain",
1005
+ "C3N-03426-01": "gain",
1006
+ "C3N-03430-02": "loss",
1007
+ "C3N-03665-01": "gain",
1008
+ "C3N-03666-01": "gain",
1009
+ "C3N-03754-01": "loss",
1010
+ "C3N-03853-01": "gain",
1011
+ "C3N-03884-02": "gain",
1012
+ "C3N-04283-03": "loss"
1013
+ },
1014
+ "RAD51D": {
1015
+ "C3L-00598-03": "gain",
1016
+ "C3L-01160-01": "gain",
1017
+ "C3L-01328-01": "gain",
1018
+ "C3L-01689-02": "gain",
1019
+ "C3L-02463-01": "deep_del",
1020
+ "C3L-03388-02": "gain",
1021
+ "C3L-03639-01": "gain",
1022
+ "C3L-04473-01": "gain",
1023
+ "C3N-00249-03": "gain",
1024
+ "C3N-00302-02": "gain",
1025
+ "C3N-00511-03": "gain",
1026
+ "C3N-00516-01": "loss",
1027
+ "C3N-01167-02": "loss",
1028
+ "C3N-01716-03": "gain",
1029
+ "C3N-01897-01": "gain",
1030
+ "C3N-02585-02": "gain",
1031
+ "C3N-02768-01": "gain",
1032
+ "C3N-03039-01": "gain",
1033
+ "C3N-03061-02": "gain",
1034
+ "C3N-03426-01": "loss",
1035
+ "C3N-03430-02": "loss",
1036
+ "C3N-03665-01": "gain",
1037
+ "C3N-03839-01": "gain",
1038
+ "C3N-03853-01": "gain"
1039
+ },
1040
  "RNF43": {
1041
  "C3L-00017-02": "loss",
1042
  "C3L-00598-03": "gain",
 
1182
  }
1183
  },
1184
  "counts": {
1185
+ "n_cnv_cells": 752,
1186
+ "n_genes": 29,
1187
+ "n_mutated_cells": 417,
1188
  "n_samples": 183
1189
  },
1190
+ "curated_at": "2026-08-05T18:59:51.860587+00:00",
1191
  "genes_assayed": null,
1192
  "modalities": {
1193
  "cnv": true,
 
1222
  "C3L-02613-03": "truncating",
1223
  "C3N-02573-02": "missense"
1224
  },
1225
+ "BRIP1": {
1226
+ "C3L-01051-02": "missense",
1227
+ "C3N-01715-02": "missense",
1228
+ "C3N-02589-01": "truncating"
1229
+ },
1230
  "CDKN2A": {
1231
  "C3L-00102-01": "missense",
1232
  "C3L-01037-01": "missense",
 
1454
  "C3N-04282-01": "hotspot",
1455
  "C3N-04283-03": "hotspot"
1456
  },
1457
+ "MLH1": {
1458
+ "C3N-01715-02": "missense"
1459
+ },
1460
+ "MSH2": {
1461
+ "C3N-00518-01": "missense"
1462
+ },
1463
  "MYC": {
1464
  "C3N-00516-01": "missense"
1465
  },
1466
  "PALB2": {
1467
  "C3N-03069-01": "truncating"
1468
  },
1469
+ "RAD51C": {
1470
+ "C3N-03666-01": "missense"
1471
+ },
1472
  "RNF43": {
1473
  "C3L-02463-01": "truncating",
1474
  "C3L-02463-02": "truncating",
 
1676
  "BRCA1",
1677
  "BRCA2",
1678
  "PALB2",
1679
+ "ATM",
1680
+ "RAD51C",
1681
+ "RAD51D",
1682
+ "BRIP1",
1683
+ "BARD1",
1684
+ "CHEK2",
1685
+ "FANCC",
1686
+ "MLH1",
1687
+ "MSH2",
1688
+ "MSH6",
1689
+ "PMS2"
1690
  ],
1691
  "profiled": {
1692
  "cnv": [
 
2042
  "BRCA2\tC3L-01032-01": "BRCA2 S1632Yfs*6",
2043
  "BRCA2\tC3L-02613-03": "BRCA2 F266Lfs*11",
2044
  "BRCA2\tC3N-02573-02": "BRCA2 R2842C",
2045
+ "BRIP1\tC3L-01051-02": "BRIP1 L445F",
2046
+ "BRIP1\tC3N-01715-02": "BRIP1 W816R",
2047
+ "BRIP1\tC3N-02589-01": "BRIP1 R581*",
2048
  "CDKN2A\tC3L-00102-01": "CDKN2A L64_L65del",
2049
  "CDKN2A\tC3L-01037-01": "CDKN2A D84N",
2050
  "CDKN2A\tC3L-01039-03": "CDKN2A X153_splice",
 
2258
  "KRAS\tC3N-04126-01": "KRAS G12R",
2259
  "KRAS\tC3N-04282-01": "KRAS Q61H",
2260
  "KRAS\tC3N-04283-03": "KRAS G12D",
2261
+ "MLH1\tC3N-01715-02": "MLH1 T117R",
2262
+ "MSH2\tC3N-00518-01": "MSH2 P27L",
2263
  "MYC\tC3N-00516-01": "MYC S237C",
2264
  "PALB2\tC3N-03069-01": "PALB2 S691Rfs*14",
2265
+ "RAD51C\tC3N-03666-01": "RAD51C D291N",
2266
  "RNF43\tC3L-02463-01": "RNF43 Y457Sfs*45",
2267
  "RNF43\tC3L-02463-02": "RNF43 Y457Sfs*45",
2268
  "RNF43\tC3L-02604-01": "RNF43 Q344*",
src/resources/curated/pdac_msk_2024.json CHANGED
@@ -4688,6 +4688,10 @@
4688
  "P-0058233-T02-IM7": "deep_del",
4689
  "P-0067777-T02-IM7": "deep_del"
4690
  },
 
 
 
 
4691
  "BRCA1": {
4692
  "P-0009310-T01-IM5": "deep_del",
4693
  "P-0019724-T01-IM6": "deep_del",
@@ -4700,6 +4704,21 @@
4700
  "P-0031531-T01-IM6": "amp",
4701
  "P-0055925-T02-IM6": "amp"
4702
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
4703
  "CDKN2A": {
4704
  "P-0000783-T01-IM3": "deep_del",
4705
  "P-0001548-T01-IM3": "deep_del",
@@ -5061,6 +5080,9 @@
5061
  "P-0068243-T01-IM7": "deep_del",
5062
  "P-0069710-T01-IM7": "deep_del"
5063
  },
 
 
 
5064
  "GNAS": {
5065
  "P-0008172-T01-IM5": "amp",
5066
  "P-0009813-T01-IM5": "amp",
@@ -5137,6 +5159,16 @@
5137
  "P-0068038-T01-IM7": "amp",
5138
  "P-0069551-T01-IM7": "amp"
5139
  },
 
 
 
 
 
 
 
 
 
 
5140
  "MYC": {
5141
  "P-0002021-T01-IM3": "amp",
5142
  "P-0004856-T01-IM5": "amp",
@@ -5237,6 +5269,21 @@
5237
  "P-0069255-T01-IM7": "amp",
5238
  "P-0069556-T01-IM7": "amp"
5239
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
5240
  "RNF43": {
5241
  "P-0037253-T01-IM6": "deep_del"
5242
  },
@@ -5368,12 +5415,12 @@
5368
  }
5369
  },
5370
  "counts": {
5371
- "n_cnv_cells": 660,
5372
- "n_genes": 19,
5373
- "n_mutated_cells": 5970,
5374
  "n_samples": 2336
5375
  },
5376
- "curated_at": "2026-07-28T23:40:19.051177+00:00",
5377
  "genes_assayed": [
5378
  "KRAS",
5379
  "TP53",
@@ -5390,7 +5437,17 @@
5390
  "BRCA1",
5391
  "BRCA2",
5392
  "PALB2",
5393
- "ATM"
 
 
 
 
 
 
 
 
 
 
5394
  ],
5395
  "modalities": {
5396
  "cnv": true,
@@ -5675,6 +5732,15 @@
5675
  "P-0067539-T02-IM7": "truncating",
5676
  "P-0069621-T01-IM7": "missense"
5677
  },
 
 
 
 
 
 
 
 
 
5678
  "BRCA1": {
5679
  "P-0006417-T02-IM6": "missense",
5680
  "P-0006679-T01-IM5": "missense",
@@ -5762,6 +5828,15 @@
5762
  "P-0067853-T01-IM7": "truncating",
5763
  "P-0068093-T01-IM7": "truncating"
5764
  },
 
 
 
 
 
 
 
 
 
5765
  "CDKN2A": {
5766
  "P-0001776-T02-IM6": "truncating",
5767
  "P-0002021-T01-IM3": "truncating",
@@ -6310,6 +6385,20 @@
6310
  "P-0069556-T01-IM7": "truncating",
6311
  "P-0069586-T01-IM7": "truncating"
6312
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
6313
  "GNAS": {
6314
  "P-0002290-T01-IM3": "hotspot",
6315
  "P-0004856-T01-IM5": "hotspot",
@@ -8848,6 +8937,47 @@
8848
  "P-0069621-T01-IM7": "hotspot",
8849
  "P-0069710-T01-IM7": "hotspot"
8850
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
8851
  "MYC": {
8852
  "P-0019427-T01-IM6": "missense",
8853
  "P-0022027-T01-IM6": "missense"
@@ -8869,6 +8999,22 @@
8869
  "P-0055011-T01-IM6": "truncating",
8870
  "P-0067380-T01-IM7": "truncating"
8871
  },
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
8872
  "RNF43": {
8873
  "P-0003006-T01-IM3": "truncating",
8874
  "P-0004737-T01-IM5": "missense",
@@ -11420,7 +11566,17 @@
11420
  "BRCA1",
11421
  "BRCA2",
11422
  "PALB2",
11423
- "ATM"
 
 
 
 
 
 
 
 
 
 
11424
  ],
11425
  "profiled": {
11426
  "cnv": null,
@@ -11700,6 +11856,13 @@
11700
  "ATM\tP-0065190-T01-IM7": "ATM R2993*",
11701
  "ATM\tP-0067539-T02-IM7": "ATM A2262Lfs*51",
11702
  "ATM\tP-0069621-T01-IM7": "ATM A1634P",
 
 
 
 
 
 
 
11703
  "BRCA1\tP-0006417-T02-IM6": "BRCA1 A439T",
11704
  "BRCA1\tP-0006679-T01-IM5": "BRCA1 Y1625C",
11705
  "BRCA1\tP-0010854-T01-IM5": "BRCA1 P568T",
@@ -11783,6 +11946,13 @@
11783
  "BRCA2\tP-0067210-T01-IM7": "BRCA2 I2521Kfs*4",
11784
  "BRCA2\tP-0067853-T01-IM7": "BRCA2 Y1672*",
11785
  "BRCA2\tP-0068093-T01-IM7": "BRCA2 T3085Nfs*26",
 
 
 
 
 
 
 
11786
  "CDKN2A\tP-0001776-T02-IM6": "CDKN2A R58*",
11787
  "CDKN2A\tP-0002021-T01-IM3": "CDKN2A L91Wfs*55",
11788
  "CDKN2A\tP-0002458-T01-IM3": "CDKN2A R80*",
@@ -12329,6 +12499,16 @@
12329
  "CDKN2A\tP-0069551-T01-IM7": "CDKN2A L37Qfs*5",
12330
  "CDKN2A\tP-0069556-T01-IM7": "CDKN2A Y44*",
12331
  "CDKN2A\tP-0069586-T01-IM7": "CDKN2A X51_splice",
 
 
 
 
 
 
 
 
 
 
12332
  "GNAS\tP-0002290-T01-IM3": "GNAS R201C",
12333
  "GNAS\tP-0004856-T01-IM5": "GNAS R201C",
12334
  "GNAS\tP-0005075-T01-IM5": "GNAS K88E",
@@ -14857,6 +15037,41 @@
14857
  "KRAS\tP-0069586-T01-IM7": "KRAS G12R",
14858
  "KRAS\tP-0069621-T01-IM7": "KRAS G12V",
14859
  "KRAS\tP-0069710-T01-IM7": "KRAS G12V",
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
14860
  "MYC\tP-0019427-T01-IM6": "MYC S33T",
14861
  "MYC\tP-0022027-T01-IM6": "MYC G105S",
14862
  "PALB2\tP-0004387-T02-IM5": "PALB2 R414*",
@@ -14874,6 +15089,16 @@
14874
  "PALB2\tP-0054036-T01-IM6": "PALB2 L32V",
14875
  "PALB2\tP-0055011-T01-IM6": "PALB2 C828*",
14876
  "PALB2\tP-0067380-T01-IM7": "PALB2 P267Lfs*12",
 
 
 
 
 
 
 
 
 
 
14877
  "RNF43\tP-0003006-T01-IM3": "RNF43 Q488Afs*16",
14878
  "RNF43\tP-0004737-T01-IM5": "RNF43 I186T",
14879
  "RNF43\tP-0004970-T01-IM5": "RNF43 P14Rfs*5",
@@ -19744,10 +19969,10 @@
19744
  "access_tier": "open",
19745
  "commercial_use": "restricted",
19746
  "commercial_use_basis": {
19747
- "confidence": "high for the NonCommercial term (article licence read directly, 2026-07-28). The reach of the NoDerivatives term over a derived gene\u00d7sample STATUS matrix is UNTESTED and deliberately not asserted either way \u2014 see obligations",
19748
  "instrument": "CC BY-NC-ND 4.0 (the Nature Medicine article and its supplementary material, which is the publication this cohort was released with)",
19749
- "obligations": "NON-COMMERCIAL USE ONLY. Attribute Varghese et al., Nat Med 2025;31(2):466-477. Two instruments point in different directions and both are recorded rather than reconciled: the article carries CC BY-NC-ND 4.0, while the authors' own data-availability statement deposits this cohort in cBioPortal as 'publicly accessible and downloadable', where it is redistributed under generic ODbL boilerplate. The stricter (NC-ND) reading governs here, consistent with resolving to the upstream source. The ND clause is the open question: this agent commits a DERIVED status matrix, which is arguably an adaptation \u2014 anyone redistributing that artifact beyond non-commercial research should resolve ND with the authors first. TARGETED PANEL: MSK-IMPACT does not sequence ELAVL1, GATA6 or ACVR1B, which the coverage gate reports as unassayed rather than 0%.",
19750
- "reviewed": "2026-07-28",
19751
  "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC11835752/"
19752
  },
19753
  "license": "ODbL (cBioPortal default; upstream per-study terms override it)",
 
4688
  "P-0058233-T02-IM7": "deep_del",
4689
  "P-0067777-T02-IM7": "deep_del"
4690
  },
4691
+ "BARD1": {
4692
+ "P-0003870-T01-IM5": "amp",
4693
+ "P-0061242-T01-IM7": "deep_del"
4694
+ },
4695
  "BRCA1": {
4696
  "P-0009310-T01-IM5": "deep_del",
4697
  "P-0019724-T01-IM6": "deep_del",
 
4704
  "P-0031531-T01-IM6": "amp",
4705
  "P-0055925-T02-IM6": "amp"
4706
  },
4707
+ "BRIP1": {
4708
+ "P-0005708-T01-IM5": "amp",
4709
+ "P-0008527-T01-IM5": "amp",
4710
+ "P-0018648-T02-IM6": "amp",
4711
+ "P-0018706-T01-IM6": "amp",
4712
+ "P-0022504-T01-IM6": "amp",
4713
+ "P-0024556-T01-IM6": "amp",
4714
+ "P-0024613-T01-IM6": "amp",
4715
+ "P-0029823-T01-IM6": "amp",
4716
+ "P-0032756-T01-IM6": "amp",
4717
+ "P-0048811-T01-IM6": "amp",
4718
+ "P-0055828-T01-IM6": "amp",
4719
+ "P-0061870-T01-IM7": "amp",
4720
+ "P-0068088-T01-IM7": "amp"
4721
+ },
4722
  "CDKN2A": {
4723
  "P-0000783-T01-IM3": "deep_del",
4724
  "P-0001548-T01-IM3": "deep_del",
 
5080
  "P-0068243-T01-IM7": "deep_del",
5081
  "P-0069710-T01-IM7": "deep_del"
5082
  },
5083
+ "FANCC": {
5084
+ "P-0054768-T01-IM6": "deep_del"
5085
+ },
5086
  "GNAS": {
5087
  "P-0008172-T01-IM5": "amp",
5088
  "P-0009813-T01-IM5": "amp",
 
5159
  "P-0068038-T01-IM7": "amp",
5160
  "P-0069551-T01-IM7": "amp"
5161
  },
5162
+ "MLH1": {
5163
+ "P-0017392-T02-IM6": "deep_del"
5164
+ },
5165
+ "MSH2": {
5166
+ "P-0015802-T02-IM6": "amp"
5167
+ },
5168
+ "MSH6": {
5169
+ "P-0015802-T02-IM6": "amp",
5170
+ "P-0041478-T01-IM6": "amp"
5171
+ },
5172
  "MYC": {
5173
  "P-0002021-T01-IM3": "amp",
5174
  "P-0004856-T01-IM5": "amp",
 
5269
  "P-0069255-T01-IM7": "amp",
5270
  "P-0069556-T01-IM7": "amp"
5271
  },
5272
+ "PMS2": {
5273
+ "P-0010452-T01-IM5": "amp",
5274
+ "P-0015818-T01-IM6": "deep_del"
5275
+ },
5276
+ "RAD51C": {
5277
+ "P-0018706-T01-IM6": "amp",
5278
+ "P-0032775-T01-IM6": "deep_del"
5279
+ },
5280
+ "RAD51D": {
5281
+ "P-0009310-T01-IM5": "deep_del",
5282
+ "P-0020763-T01-IM6": "amp",
5283
+ "P-0055618-T01-IM6": "amp",
5284
+ "P-0060844-T01-IM7": "amp",
5285
+ "P-0061327-T01-IM7": "amp"
5286
+ },
5287
  "RNF43": {
5288
  "P-0037253-T01-IM6": "deep_del"
5289
  },
 
5415
  }
5416
  },
5417
  "counts": {
5418
+ "n_cnv_cells": 689,
5419
+ "n_genes": 29,
5420
+ "n_mutated_cells": 6039,
5421
  "n_samples": 2336
5422
  },
5423
+ "curated_at": "2026-08-05T19:00:18.876925+00:00",
5424
  "genes_assayed": [
5425
  "KRAS",
5426
  "TP53",
 
5437
  "BRCA1",
5438
  "BRCA2",
5439
  "PALB2",
5440
+ "ATM",
5441
+ "RAD51C",
5442
+ "RAD51D",
5443
+ "BRIP1",
5444
+ "BARD1",
5445
+ "CHEK2",
5446
+ "FANCC",
5447
+ "MLH1",
5448
+ "MSH2",
5449
+ "MSH6",
5450
+ "PMS2"
5451
  ],
5452
  "modalities": {
5453
  "cnv": true,
 
5732
  "P-0067539-T02-IM7": "truncating",
5733
  "P-0069621-T01-IM7": "missense"
5734
  },
5735
+ "BARD1": {
5736
+ "P-0003870-T01-IM5": "missense",
5737
+ "P-0011555-T01-IM5": "truncating",
5738
+ "P-0012891-T01-IM5": "missense",
5739
+ "P-0013792-T01-IM5": "missense",
5740
+ "P-0036716-T01-IM6": "missense",
5741
+ "P-0041983-T01-IM6": "missense",
5742
+ "P-0059112-T01-IM7": "missense"
5743
+ },
5744
  "BRCA1": {
5745
  "P-0006417-T02-IM6": "missense",
5746
  "P-0006679-T01-IM5": "missense",
 
5828
  "P-0067853-T01-IM7": "truncating",
5829
  "P-0068093-T01-IM7": "truncating"
5830
  },
5831
+ "BRIP1": {
5832
+ "P-0001776-T02-IM6": "truncating",
5833
+ "P-0002433-T01-IM3": "truncating",
5834
+ "P-0007604-T01-IM5": "missense",
5835
+ "P-0015384-T01-IM6": "truncating",
5836
+ "P-0028362-T01-IM6": "missense",
5837
+ "P-0047080-T01-IM6": "missense",
5838
+ "P-0057188-T02-IM7": "missense"
5839
+ },
5840
  "CDKN2A": {
5841
  "P-0001776-T02-IM6": "truncating",
5842
  "P-0002021-T01-IM3": "truncating",
 
6385
  "P-0069556-T01-IM7": "truncating",
6386
  "P-0069586-T01-IM7": "truncating"
6387
  },
6388
+ "CHEK2": {
6389
+ "P-0017188-T01-IM6": "missense",
6390
+ "P-0018643-T01-IM6": "missense",
6391
+ "P-0049368-T01-IM6": "missense",
6392
+ "P-0056295-T01-IM6": "truncating"
6393
+ },
6394
+ "FANCC": {
6395
+ "P-0008862-T01-IM5": "missense",
6396
+ "P-0012041-T01-IM5": "missense",
6397
+ "P-0026165-T01-IM6": "missense",
6398
+ "P-0030506-T01-IM6": "truncating",
6399
+ "P-0040302-T01-IM6": "missense",
6400
+ "P-0050221-T02-IM6": "missense"
6401
+ },
6402
  "GNAS": {
6403
  "P-0002290-T01-IM3": "hotspot",
6404
  "P-0004856-T01-IM5": "hotspot",
 
8937
  "P-0069621-T01-IM7": "hotspot",
8938
  "P-0069710-T01-IM7": "hotspot"
8939
  },
8940
+ "MLH1": {
8941
+ "P-0007565-T01-IM5": "truncating",
8942
+ "P-0008374-T01-IM5": "missense",
8943
+ "P-0010948-T01-IM5": "missense",
8944
+ "P-0018942-T03-IM6": "truncating",
8945
+ "P-0029168-T01-IM6": "truncating",
8946
+ "P-0040951-T01-IM6": "missense",
8947
+ "P-0044438-T01-IM6": "missense",
8948
+ "P-0051777-T01-IM6": "missense",
8949
+ "P-0061327-T01-IM7": "truncating",
8950
+ "P-0068258-T01-IM7": "missense"
8951
+ },
8952
+ "MSH2": {
8953
+ "P-0000142-T01-IM3": "missense",
8954
+ "P-0012891-T01-IM5": "missense",
8955
+ "P-0026285-T01-IM6": "truncating",
8956
+ "P-0035817-T01-IM6": "truncating",
8957
+ "P-0042709-T01-IM6": "missense"
8958
+ },
8959
+ "MSH6": {
8960
+ "P-0004460-T01-IM5": "missense",
8961
+ "P-0006790-T01-IM5": "missense",
8962
+ "P-0006862-T03-IM6": "missense",
8963
+ "P-0008780-T02-IM5": "truncating",
8964
+ "P-0009228-T01-IM5": "missense",
8965
+ "P-0016616-T01-IM6": "truncating",
8966
+ "P-0018962-T01-IM6": "truncating",
8967
+ "P-0019946-T01-IM6": "missense",
8968
+ "P-0021972-T01-IM6": "truncating",
8969
+ "P-0025188-T01-IM6": "truncating",
8970
+ "P-0025856-T01-IM6": "missense",
8971
+ "P-0029819-T01-IM6": "missense",
8972
+ "P-0032725-T01-IM6": "missense",
8973
+ "P-0039888-T01-IM6": "truncating",
8974
+ "P-0040802-T01-IM6": "missense",
8975
+ "P-0044171-T01-IM6": "missense",
8976
+ "P-0054549-T01-IM6": "missense",
8977
+ "P-0055011-T01-IM6": "truncating",
8978
+ "P-0056343-T02-IM6": "truncating",
8979
+ "P-0067604-T01-IM7": "missense"
8980
+ },
8981
  "MYC": {
8982
  "P-0019427-T01-IM6": "missense",
8983
  "P-0022027-T01-IM6": "missense"
 
8999
  "P-0055011-T01-IM6": "truncating",
9000
  "P-0067380-T01-IM7": "truncating"
9001
  },
9002
+ "PMS2": {
9003
+ "P-0016372-T01-IM6": "missense",
9004
+ "P-0047514-T01-IM6": "missense",
9005
+ "P-0056106-T01-IM6": "missense"
9006
+ },
9007
+ "RAD51C": {
9008
+ "P-0022839-T01-IM6": "missense",
9009
+ "P-0032825-T01-IM6": "truncating",
9010
+ "P-0035817-T01-IM6": "missense",
9011
+ "P-0039568-T01-IM6": "missense",
9012
+ "P-0055011-T01-IM6": "missense"
9013
+ },
9014
+ "RAD51D": {
9015
+ "P-0017188-T01-IM6": "missense",
9016
+ "P-0021354-T01-IM6": "truncating"
9017
+ },
9018
  "RNF43": {
9019
  "P-0003006-T01-IM3": "truncating",
9020
  "P-0004737-T01-IM5": "missense",
 
11566
  "BRCA1",
11567
  "BRCA2",
11568
  "PALB2",
11569
+ "ATM",
11570
+ "RAD51C",
11571
+ "RAD51D",
11572
+ "BRIP1",
11573
+ "BARD1",
11574
+ "CHEK2",
11575
+ "FANCC",
11576
+ "MLH1",
11577
+ "MSH2",
11578
+ "MSH6",
11579
+ "PMS2"
11580
  ],
11581
  "profiled": {
11582
  "cnv": null,
 
11856
  "ATM\tP-0065190-T01-IM7": "ATM R2993*",
11857
  "ATM\tP-0067539-T02-IM7": "ATM A2262Lfs*51",
11858
  "ATM\tP-0069621-T01-IM7": "ATM A1634P",
11859
+ "BARD1\tP-0003870-T01-IM5": "BARD1 Y156_V157delinsF",
11860
+ "BARD1\tP-0011555-T01-IM5": "BARD1 D226Afs*6",
11861
+ "BARD1\tP-0012891-T01-IM5": "BARD1 A721T",
11862
+ "BARD1\tP-0013792-T01-IM5": "BARD1 V604I",
11863
+ "BARD1\tP-0036716-T01-IM6": "BARD1 D458E",
11864
+ "BARD1\tP-0041983-T01-IM6": "BARD1 D458Y",
11865
+ "BARD1\tP-0059112-T01-IM7": "BARD1 Y739C",
11866
  "BRCA1\tP-0006417-T02-IM6": "BRCA1 A439T",
11867
  "BRCA1\tP-0006679-T01-IM5": "BRCA1 Y1625C",
11868
  "BRCA1\tP-0010854-T01-IM5": "BRCA1 P568T",
 
11946
  "BRCA2\tP-0067210-T01-IM7": "BRCA2 I2521Kfs*4",
11947
  "BRCA2\tP-0067853-T01-IM7": "BRCA2 Y1672*",
11948
  "BRCA2\tP-0068093-T01-IM7": "BRCA2 T3085Nfs*26",
11949
+ "BRIP1\tP-0001776-T02-IM6": "BRIP1 I359Nfs*5",
11950
+ "BRIP1\tP-0002433-T01-IM3": "BRIP1 C693Ffs*23",
11951
+ "BRIP1\tP-0007604-T01-IM5": "BRIP1 P351L",
11952
+ "BRIP1\tP-0015384-T01-IM6": "BRIP1 F1234Sfs*5",
11953
+ "BRIP1\tP-0028362-T01-IM6": "BRIP1 E1222Q",
11954
+ "BRIP1\tP-0047080-T01-IM6": "BRIP1 T616I",
11955
+ "BRIP1\tP-0057188-T02-IM7": "BRIP1 M4V",
11956
  "CDKN2A\tP-0001776-T02-IM6": "CDKN2A R58*",
11957
  "CDKN2A\tP-0002021-T01-IM3": "CDKN2A L91Wfs*55",
11958
  "CDKN2A\tP-0002458-T01-IM3": "CDKN2A R80*",
 
12499
  "CDKN2A\tP-0069551-T01-IM7": "CDKN2A L37Qfs*5",
12500
  "CDKN2A\tP-0069556-T01-IM7": "CDKN2A Y44*",
12501
  "CDKN2A\tP-0069586-T01-IM7": "CDKN2A X51_splice",
12502
+ "CHEK2\tP-0017188-T01-IM6": "CHEK2 N154D",
12503
+ "CHEK2\tP-0018643-T01-IM6": "CHEK2 E122Q",
12504
+ "CHEK2\tP-0049368-T01-IM6": "CHEK2 D82_E86del",
12505
+ "CHEK2\tP-0056295-T01-IM6": "CHEK2 N154Tfs*7",
12506
+ "FANCC\tP-0008862-T01-IM5": "FANCC M153K",
12507
+ "FANCC\tP-0012041-T01-IM5": "FANCC L423del",
12508
+ "FANCC\tP-0026165-T01-IM6": "FANCC S457P",
12509
+ "FANCC\tP-0030506-T01-IM6": "FANCC W533*",
12510
+ "FANCC\tP-0040302-T01-IM6": "FANCC G139R",
12511
+ "FANCC\tP-0050221-T02-IM6": "FANCC T475R",
12512
  "GNAS\tP-0002290-T01-IM3": "GNAS R201C",
12513
  "GNAS\tP-0004856-T01-IM5": "GNAS R201C",
12514
  "GNAS\tP-0005075-T01-IM5": "GNAS K88E",
 
15037
  "KRAS\tP-0069586-T01-IM7": "KRAS G12R",
15038
  "KRAS\tP-0069621-T01-IM7": "KRAS G12V",
15039
  "KRAS\tP-0069710-T01-IM7": "KRAS G12V",
15040
+ "MLH1\tP-0007565-T01-IM5": "MLH1 X556_splice",
15041
+ "MLH1\tP-0008374-T01-IM5": "MLH1 E277V",
15042
+ "MLH1\tP-0010948-T01-IM5": "MLH1 E668K",
15043
+ "MLH1\tP-0018942-T03-IM6": "MLH1 X196_splice",
15044
+ "MLH1\tP-0029168-T01-IM6": "MLH1 Q197Tfs*7",
15045
+ "MLH1\tP-0040951-T01-IM6": "MLH1 G596S",
15046
+ "MLH1\tP-0044438-T01-IM6": "MLH1 A569D",
15047
+ "MLH1\tP-0051777-T01-IM6": "MLH1 V664M",
15048
+ "MLH1\tP-0061327-T01-IM7": "MLH1 E13*",
15049
+ "MLH1\tP-0068258-T01-IM7": "MLH1 V647L",
15050
+ "MSH2\tP-0000142-T01-IM3": "MSH2 L421R",
15051
+ "MSH2\tP-0012891-T01-IM5": "MSH2 L310H",
15052
+ "MSH2\tP-0026285-T01-IM6": "MSH2 N412Kfs*5",
15053
+ "MSH2\tP-0035817-T01-IM6": "MSH2 V542*",
15054
+ "MSH2\tP-0042709-T01-IM6": "MSH2 D646V",
15055
+ "MSH6\tP-0004460-T01-IM5": "MSH6 P838del",
15056
+ "MSH6\tP-0006790-T01-IM5": "MSH6 H826R",
15057
+ "MSH6\tP-0006862-T03-IM6": "MSH6 T1284M",
15058
+ "MSH6\tP-0008780-T02-IM5": "MSH6 S470*",
15059
+ "MSH6\tP-0009228-T01-IM5": "MSH6 A1055T",
15060
+ "MSH6\tP-0016616-T01-IM6": "MSH6 F1088Sfs*2",
15061
+ "MSH6\tP-0018962-T01-IM6": "MSH6 I651Nfs*8",
15062
+ "MSH6\tP-0019946-T01-IM6": "MSH6 D392V",
15063
+ "MSH6\tP-0021972-T01-IM6": "MSH6 F1088Pfs*3",
15064
+ "MSH6\tP-0025188-T01-IM6": "MSH6 K1101Dfs*6",
15065
+ "MSH6\tP-0025856-T01-IM6": "MSH6 G56_P59del",
15066
+ "MSH6\tP-0029819-T01-IM6": "MSH6 E1237Q",
15067
+ "MSH6\tP-0032725-T01-IM6": "MSH6 P1087S",
15068
+ "MSH6\tP-0039888-T01-IM6": "MSH6 F1088Lfs*5",
15069
+ "MSH6\tP-0040802-T01-IM6": "MSH6 D839G",
15070
+ "MSH6\tP-0044171-T01-IM6": "MSH6 S682P",
15071
+ "MSH6\tP-0054549-T01-IM6": "MSH6 I1011T",
15072
+ "MSH6\tP-0055011-T01-IM6": "MSH6 F1088Pfs*3",
15073
+ "MSH6\tP-0056343-T02-IM6": "MSH6 M1144Efs*19",
15074
+ "MSH6\tP-0067604-T01-IM7": "MSH6 S63F",
15075
  "MYC\tP-0019427-T01-IM6": "MYC S33T",
15076
  "MYC\tP-0022027-T01-IM6": "MYC G105S",
15077
  "PALB2\tP-0004387-T02-IM5": "PALB2 R414*",
 
15089
  "PALB2\tP-0054036-T01-IM6": "PALB2 L32V",
15090
  "PALB2\tP-0055011-T01-IM6": "PALB2 C828*",
15091
  "PALB2\tP-0067380-T01-IM7": "PALB2 P267Lfs*12",
15092
+ "PMS2\tP-0016372-T01-IM6": "PMS2 E254Q",
15093
+ "PMS2\tP-0047514-T01-IM6": "PMS2 D119N",
15094
+ "PMS2\tP-0056106-T01-IM6": "PMS2 R20G",
15095
+ "RAD51C\tP-0022839-T01-IM6": "RAD51C H233Q",
15096
+ "RAD51C\tP-0032825-T01-IM6": "RAD51C D171Rfs*32",
15097
+ "RAD51C\tP-0035817-T01-IM6": "RAD51C A22V",
15098
+ "RAD51C\tP-0039568-T01-IM6": "RAD51C D251G",
15099
+ "RAD51C\tP-0055011-T01-IM6": "RAD51C Q143R",
15100
+ "RAD51D\tP-0017188-T01-IM6": "RAD51D M180V",
15101
+ "RAD51D\tP-0021354-T01-IM6": "RAD51D S33Lfs*7",
15102
  "RNF43\tP-0003006-T01-IM3": "RNF43 Q488Afs*16",
15103
  "RNF43\tP-0004737-T01-IM5": "RNF43 I186T",
15104
  "RNF43\tP-0004970-T01-IM5": "RNF43 P14Rfs*5",
 
19969
  "access_tier": "open",
19970
  "commercial_use": "restricted",
19971
  "commercial_use_basis": {
19972
+ "confidence": "high for the NonCommercial term (article licence read directly, 2026-07-28). The NoDerivatives question is RESOLVED as of 2026-08-05 \u2014 see obligations",
19973
  "instrument": "CC BY-NC-ND 4.0 (the Nature Medicine article and its supplementary material, which is the publication this cohort was released with)",
19974
+ "obligations": "NON-COMMERCIAL USE ONLY. Attribute Varghese et al., Nat Med 2025;31(2):466-477. Two instruments point in different directions and both are recorded rather than reconciled: the article carries CC BY-NC-ND 4.0, while the authors' own data-availability statement deposits this cohort in cBioPortal as 'publicly accessible and downloadable', where it is redistributed under generic ODbL boilerplate. The stricter (NC-ND) reading governs here, consistent with resolving to the upstream source. ND \u2014 RESOLVED 2026-08-05 (Anne Voigt): the CC BY-NC-ND licence attaches to the ARTICLE and its supplementary material, whereas this cohort was deposited separately by the authors as publicly accessible and downloadable data. The deposition, not the article licence, is the instrument governing the data, so committing a derived status matrix is not restricted by ND. This is a reasoned position taken by the consultant, NOT an author grant \u2014 if this artifact is ever redistributed commercially the NC term still bars it, and the ND reading is worth putting to the authors before relying on it in a commercial or licensing context. TARGETED PANEL: MSK-IMPACT does not sequence ELAVL1, GATA6 or ACVR1B, which the coverage gate reports as unassayed rather than 0%.",
19975
+ "reviewed": "2026-08-05",
19976
  "source": "https://pmc.ncbi.nlm.nih.gov/articles/PMC11835752/"
19977
  },
19978
  "license": "ODbL (cBioPortal default; upstream per-study terms override it)",
src/resources/pdac_panel.tsv CHANGED
@@ -18,3 +18,13 @@ BRCA1 ddr PARP-inhibitor actionable
18
  BRCA2 ddr PARP-inhibitor actionable
19
  PALB2 ddr PARP-inhibitor actionable
20
  ATM ddr DDR
 
 
 
 
 
 
 
 
 
 
 
18
  BRCA2 ddr PARP-inhibitor actionable
19
  PALB2 ddr PARP-inhibitor actionable
20
  ATM ddr DDR
21
+ RAD51C ddr HR beyond BRCA — PARP-inhibitor eligibility
22
+ RAD51D ddr HR beyond BRCA — PARP-inhibitor eligibility
23
+ BRIP1 ddr HR beyond BRCA — PARP-inhibitor eligibility
24
+ BARD1 ddr HR beyond BRCA — BRCA1 partner
25
+ CHEK2 ddr DDR checkpoint kinase
26
+ FANCC ddr Fanconi anemia pathway; platinum sensitivity
27
+ MLH1 mmr MMR — MSI-high, pembrolizumab eligibility
28
+ MSH2 mmr MMR — MSI-high, pembrolizumab eligibility
29
+ MSH6 mmr MMR — MSI-high, pembrolizumab eligibility
30
+ PMS2 mmr MMR — MSI-high, pembrolizumab eligibility
src/tools/query_variant_status.py CHANGED
@@ -52,10 +52,13 @@ def query_variant_status(genes: list[str], source: str) -> dict:
52
  unavailable_modalities: [ ... ], # explicit, so a caller can SAY what's missing
53
  genes_assayed: [ ... ] | null, # null = exome/genome-wide; a list = targeted panel
54
  unassayed_genes: [ ... ], # requested genes this cohort never sequenced
 
55
  }
56
 
57
  A gene the cohort's panel does not cover yields ``{"assayed": False, "note": ...}`` instead
58
- of a frequency — the per-gene half of the coverage gate.
 
 
59
  """
60
  # Empty `genes` means the full panel, the same as the machine endpoint's blank `genes`
61
  # (`_split_genes` in gradio_ui.py). The two used to disagree: the endpoint expanded to the
@@ -72,7 +75,21 @@ def query_variant_status(genes: list[str], source: str) -> dict:
72
 
73
  sm = build_status_matrix(source, sample_ids=restrict)
74
 
 
 
 
 
 
 
 
 
 
 
 
 
 
75
  requested = [g for g in genes if g in sm.genes]
 
76
  n = len(sm.samples)
77
  # Frequency denominators are PER MODALITY and are the profiled subset, not the cohort — a
78
  # sample the study never sequenced is not wild-type. Both the count and the sample set are
@@ -128,6 +145,18 @@ def query_variant_status(genes: list[str], source: str) -> dict:
128
  }
129
  out_genes[g] = entry
130
 
 
 
 
 
 
 
 
 
 
 
 
 
131
  unavailable = [m for m, present in sm.modalities.items() if not present]
132
 
133
  return {
@@ -162,6 +191,10 @@ def query_variant_status(genes: list[str], source: str) -> dict:
162
  # None = genome/exome-wide cohort (no per-gene restriction); a list = targeted panel.
163
  "genes_assayed": sm.genes_assayed,
164
  "unassayed_genes": unassayed, # explicit, so a caller can SAY what was not measured
 
 
 
 
165
  "genes": out_genes,
166
  # C1 (ADR-0005 / cBioPortal terms): attribution rides the response contract itself.
167
  "citation": citation_block(
 
52
  unavailable_modalities: [ ... ], # explicit, so a caller can SAY what's missing
53
  genes_assayed: [ ... ] | null, # null = exome/genome-wide; a list = targeted panel
54
  unassayed_genes: [ ... ], # requested genes this cohort never sequenced
55
+ uncurated_genes: [ ... ], # requested genes absent from OUR curated artifact
56
  }
57
 
58
  A gene the cohort's panel does not cover yields ``{"assayed": False, "note": ...}`` instead
59
+ of a frequency — the per-gene half of the coverage gate. A gene the curated artifact does
60
+ not carry yields ``{"curated": False, "note": ...}``, which is a different thing: the
61
+ cohort may well have it, we just have not curated it. Neither is ever silently dropped.
62
  """
63
  # Empty `genes` means the full panel, the same as the machine endpoint's blank `genes`
64
  # (`_split_genes` in gradio_ui.py). The two used to disagree: the endpoint expanded to the
 
75
 
76
  sm = build_status_matrix(source, sample_ids=restrict)
77
 
78
+ # A requested gene the ARTIFACT does not carry is a stated gap, never a silent omission.
79
+ # This used to be `[g for g in genes if g in sm.genes]`, which dropped such a gene from the
80
+ # payload entirely: a caller asking for the panel got back a shorter `genes` map with no
81
+ # indication anything was missing, which reads as "we looked and found nothing". It is the
82
+ # same confident-false-negative the `assayed: False` gate exists to prevent, reached through
83
+ # a different door — and it fires exactly when the panel is widened, because every curated
84
+ # artifact bakes in the `panel_genes` it was curated against.
85
+ #
86
+ # Kept DISTINCT from `assayed: False` on purpose. `assayed: False` means the cohort's assay
87
+ # never interrogated the gene — a fact about the data, unfixable here. `curated: False` means
88
+ # WE have not curated it yet — a fact about our snapshot, fixed by re-running
89
+ # `python -m src.curate <study>`. Collapsing the two would tell a user their cohort cannot
90
+ # answer a question that a re-curation would answer fine.
91
  requested = [g for g in genes if g in sm.genes]
92
+ not_curated = [g for g in genes if g not in sm.genes]
93
  n = len(sm.samples)
94
  # Frequency denominators are PER MODALITY and are the profiled subset, not the cohort — a
95
  # sample the study never sequenced is not wild-type. Both the count and the sample set are
 
145
  }
146
  out_genes[g] = entry
147
 
148
+ study_ref = sm.source.split(":", 1)[1] if ":" in sm.source else sm.source
149
+ for g in not_curated:
150
+ out_genes[g] = {
151
+ "curated": False,
152
+ "note": (
153
+ f"{g} is not present in this cohort's curated artifact, so no status or "
154
+ "frequency can be reported. This is a gap in OUR snapshot, not a finding about "
155
+ f"the cohort — the artifact was curated against an older gene panel. Re-run "
156
+ f"`python -m src.curate {study_ref}` to fill it in."
157
+ ),
158
+ }
159
+
160
  unavailable = [m for m, present in sm.modalities.items() if not present]
161
 
162
  return {
 
191
  # None = genome/exome-wide cohort (no per-gene restriction); a list = targeted panel.
192
  "genes_assayed": sm.genes_assayed,
193
  "unassayed_genes": unassayed, # explicit, so a caller can SAY what was not measured
194
+ # Requested genes missing from the curated artifact — our gap, not the cohort's. Kept
195
+ # separate from `unassayed_genes` because the remedy differs: re-curate vs. cannot be
196
+ # answered by this cohort at all.
197
+ "uncurated_genes": not_curated,
198
  "genes": out_genes,
199
  # C1 (ADR-0005 / cBioPortal terms): attribution rides the response contract itself.
200
  "citation": citation_block(
tests/test_deploy_surface.py CHANGED
@@ -100,10 +100,18 @@ def test_blocks_app_is_importable():
100
 
101
 
102
  def test_panel_endpoint_returns_the_v1_panel(monkeypatch):
103
- """The orchestrator can ask for the panel rather than hardcoding 19 genes."""
 
 
 
 
 
104
  import json
105
 
 
 
106
  monkeypatch.delenv("ACCESS_CONTROL", raising=False)
107
  body = json.loads(gradio_ui.panel(request=None))
108
- assert body["n_genes"] == 19
 
109
  assert "KRAS" in body["panel"]
 
100
 
101
 
102
  def test_panel_endpoint_returns_the_v1_panel(monkeypatch):
103
+ """The orchestrator can ask for the panel rather than hardcoding the gene list.
104
+
105
+ Asserted against `load_panel()` rather than a literal count, precisely because the panel is
106
+ config that widens (19 → 29 on 2026-08-05). A hardcoded number here would fail on every
107
+ widening for no reason; what actually matters is that the endpoint and the resource agree.
108
+ """
109
  import json
110
 
111
+ from src.workflows.variant_status import load_panel
112
+
113
  monkeypatch.delenv("ACCESS_CONTROL", raising=False)
114
  body = json.loads(gradio_ui.panel(request=None))
115
+ assert body["n_genes"] == len(load_panel())
116
+ assert body["panel"] == load_panel()
117
  assert "KRAS" in body["panel"]
tests/test_panel_coverage.py CHANGED
@@ -17,7 +17,7 @@ import pytest
17
 
18
  from src.tools.query_variant_status import query_variant_status
19
  from src.workflows import curated_store
20
- from src.workflows.variant_status import assayed_panel_genes, build_status_matrix
21
 
22
 
23
  # --------------------------------------------------------------------------- #
@@ -108,6 +108,48 @@ def test_unassayed_gene_is_refused_not_reported_as_zero_percent(tmp_path, monkey
108
  assert res["genes"]["KRAS"]["mutation"]["frequency"] == 0.5
109
 
110
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
111
  def test_exome_wide_cohort_reports_every_gene(patched_cbio):
112
  """The gate must not fire where there is no panel restriction (the common case)."""
113
  res = query_variant_status(["KRAS", "GATA6"], "cbioportal:paad_tcga")
 
17
 
18
  from src.tools.query_variant_status import query_variant_status
19
  from src.workflows import curated_store
20
+ from src.workflows.variant_status import assayed_panel_genes, build_status_matrix, load_panel
21
 
22
 
23
  # --------------------------------------------------------------------------- #
 
108
  assert res["genes"]["KRAS"]["mutation"]["frequency"] == 0.5
109
 
110
 
111
+ def test_gene_missing_from_the_artifact_is_a_stated_gap_not_a_silent_drop(tmp_path, monkeypatch):
112
+ """A panel gene the artifact predates must be NAMED, never quietly omitted.
113
+
114
+ This is the failure the 19 → 29 widening would otherwise have shipped. Every curated
115
+ artifact bakes in the `panel_genes` it was curated against, and the request path used to
116
+ filter requested genes down to what the artifact carried — so a widened panel queried
117
+ against a not-yet-re-curated artifact returned a SHORTER `genes` map with nothing to say
118
+ it was shorter. To a caller that reads as "we looked and found nothing", which is the same
119
+ confident false negative `assayed: False` exists to prevent, reached by another route.
120
+ """
121
+ _write_targeted_artifact(tmp_path, monkeypatch) # panel_genes = KRAS, GATA6
122
+
123
+ res = query_variant_status(["KRAS", "GATA6", "MSH2"], "cbioportal:targeted_demo")
124
+
125
+ assert res["uncurated_genes"] == ["MSH2"]
126
+ assert res["genes"]["MSH2"]["curated"] is False
127
+ assert "mutation" not in res["genes"]["MSH2"]
128
+ assert "frequency" not in res["genes"]["MSH2"]
129
+ # the note must send the reader to the fix, and the fix is ours, not the cohort's
130
+ assert "python -m src.curate targeted_demo" in res["genes"]["MSH2"]["note"]
131
+ # NOT conflated with the coverage gate: `assayed: False` says the cohort never looked,
132
+ # which is unfixable here; `curated: False` says WE have not looked yet, which a
133
+ # re-curation fixes. Telling a user the first when the truth is the second sends them away
134
+ # from a question their cohort can actually answer.
135
+ assert "assayed" not in res["genes"]["MSH2"]
136
+ assert res["unassayed_genes"] == ["GATA6"]
137
+
138
+
139
+ def test_widened_panel_is_fully_curated_everywhere(study=None):
140
+ """Every committed artifact carries the CURRENT panel — no cohort left behind by a widening.
141
+
142
+ The `curated: False` path above is a safety net for a mistake, not a resting state. If this
143
+ fails after a panel edit, the panel widened without a re-curation pass: run
144
+ `python -m src.curate <study>` for each study named in the failure.
145
+ """
146
+ panel = set(load_panel())
147
+ for artifact in sorted(curated_store.ARTIFACT_DIR.glob("*.json")):
148
+ payload = curated_store.read(artifact.stem)
149
+ missing = panel - set(payload["panel_genes"])
150
+ assert not missing, f"{artifact.stem} was not re-curated: missing {sorted(missing)}"
151
+
152
+
153
  def test_exome_wide_cohort_reports_every_gene(patched_cbio):
154
  """The gate must not fire where there is no panel restriction (the common case)."""
155
  res = query_variant_status(["KRAS", "GATA6"], "cbioportal:paad_tcga")
tests/test_scaffold_smoke.py CHANGED
@@ -7,7 +7,16 @@ def test_panel_resource_has_the_core_drivers():
7
  rows = Path("src/resources/pdac_panel.tsv").read_text().splitlines()[1:]
8
  genes = {r.split("\t")[0] for r in rows if r.strip()}
9
  assert {"KRAS", "TP53", "CDKN2A", "SMAD4", "MYC", "ELAVL1", "GATA6"} <= genes
10
- assert len(genes) == 19
 
 
 
 
 
 
 
 
 
11
 
12
 
13
  def test_cbioportal_client_surface():
 
7
  rows = Path("src/resources/pdac_panel.tsv").read_text().splitlines()[1:]
8
  genes = {r.split("\t")[0] for r in rows if r.strip()}
9
  assert {"KRAS", "TP53", "CDKN2A", "SMAD4", "MYC", "ELAVL1", "GATA6"} <= genes
10
+ # The 2026-08-05 widening: HR beyond BRCA (PARP-inhibitor eligibility) + the four MMR genes
11
+ # (MSI-high / pembrolizumab). Both tiers are answerable from mutation+CNV alone, which is
12
+ # why they were taken and the fusion-driven actionable genes (NRG1, NTRK, ALK, ROS1, RET)
13
+ # were not — a status matrix would report those as ~0% and mean it.
14
+ assert {"RAD51C", "RAD51D", "BRIP1", "BARD1", "CHEK2", "FANCC"} <= genes
15
+ assert {"MLH1", "MSH2", "MSH6", "PMS2"} <= genes
16
+ # Pinned, not computed: widening the panel invalidates every curated artifact (each bakes in
17
+ # its `panel_genes`), so the count changing must be a deliberate edit that re-curates, never
18
+ # a quiet drift. See the `curated: False` gap in query_variant_status.
19
+ assert len(genes) == 29
20
 
21
 
22
  def test_cbioportal_client_surface():
tests/test_source_conditions.py CHANGED
@@ -112,13 +112,33 @@ def test_ccle_is_flagged_commercially_restricted():
112
 
113
 
114
  def test_no_restriction_found_is_not_reported_as_permitted():
115
- """'We found no prohibition' and 'this is allowed' are different claims."""
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
116
  terms = licenses.study_terms(
117
  "paad_qcmg_uq_2016", {"publicStudy": True, "readPermission": True}
118
  )
119
 
120
- assert terms["commercial_use"] == "no_restriction_found"
121
- assert not licenses.commercial_use_permitted(terms)
 
 
 
 
122
 
123
 
124
  def test_every_review_entry_carries_its_evidence():
 
112
 
113
 
114
  def test_no_restriction_found_is_not_reported_as_permitted():
115
+ """'We found no prohibition' and 'this is allowed' are different claims.
116
+
117
+ Asserted against the FUNCTION, not against a particular study. It used to pin
118
+ `paad_qcmg_uq_2016`, which held that verdict until the ICGC open-tier grant was confirmed
119
+ on 2026-08-05 and it became `permitted` — at which point the test failed while the rule it
120
+ guards was still perfectly true. The rule is what matters: a study may move between
121
+ verdicts, but `no_restriction_found` must never be treated as a grant, and `unreviewed`
122
+ must never be treated as unrestricted.
123
+ """
124
+ for verdict in ("no_restriction_found", "unreviewed", "restricted", "unclear"):
125
+ assert not licenses.commercial_use_permitted({"commercial_use": verdict}), verdict
126
+ assert licenses.commercial_use_permitted({"commercial_use": "permitted"})
127
+ assert not licenses.commercial_use_permitted(None)
128
+
129
+
130
+ def test_icgc_open_tier_is_permitted_with_its_obligations_intact():
131
+ """`paad_qcmg_uq_2016` — upgraded 2026-08-05, but E.4 still constrains commercial users."""
132
  terms = licenses.study_terms(
133
  "paad_qcmg_uq_2016", {"publicStudy": True, "readPermission": True}
134
  )
135
 
136
+ assert terms["commercial_use"] == "permitted"
137
+ assert licenses.commercial_use_permitted(terms)
138
+ # A grant is not the absence of obligations. E.4 (no IP claims over primary somatic data,
139
+ # downstream licensing must not obstruct further research) is the one that bites commercially
140
+ # and must survive the upgrade rather than being dropped along with the old verdict.
141
+ assert "E.4" in terms["commercial_use_basis"]["obligations"]
142
 
143
 
144
  def test_every_review_entry_carries_its_evidence():