Validation

Validation methodology and results against cBioPortal datahub datasets.

How Validation Works

The vibe-vep compare command compares existing MAF annotations against fresh predictions. For each MAF variant, the tool:

  1. Parses the variant and its existing annotation (consequence, gene, transcript ID)
  2. Re-annotates the variant against all overlapping GENCODE transcripts
  3. Selects the best matching annotation for comparison (see below)
  4. Normalizes consequence terms and compares

Transcript Selection for Validation

When comparing against a MAF entry, the tool selects the best VEP annotation using this priority:

  1. Exact transcript ID match — if the MAF specifies a transcript ID (e.g., ENST00000311936), use the annotation for that transcript. However, if the transcript’s biotype has changed between GENCODE versions (e.g., was protein_coding but is now retained_intron) and the MAF has a coding consequence, the match is skipped.

  2. Same gene, best transcript — among annotations for the same gene (by Hugo symbol), prefer:

    • Canonical transcripts (marked by GENCODE/Ensembl)
    • Protein-coding biotypes over non-coding
    • Higher-impact consequences (HIGH > MODERATE > LOW > MODIFIER)
  3. Any transcript, best match — if no gene match, use the same ranking across all annotations.

Consequence Normalization

MAF files may use different consequence terms than SO standard. The validation normalizes both sides before comparison:

  • MAF to SO mapping: Missense_Mutation to missense_variant, Silent to synonymous_variant, etc.
  • Modifier stripping: Drops terms like non_coding_transcript_variant, NMD_transcript_variant, coding_sequence_variant, start_retained_variant, stop_retained_variant that are secondary modifiers when a higher-impact term is present
  • Splice normalization: Maps splice_donor_region_variant and splice_donor_5th_base_variant to splice_region_variant; drops splice_region_variant when a primary consequence is present
  • Impact-based stripping: Drops intron_variant when splice donor/acceptor is present; drops UTR terms when a HIGH-impact term is present; drops stop_gained/stop_lost when co-occurring with frameshift_variant
  • Inframe grouping: Normalizes protein_altering_variant, inframe_deletion, and inframe_insertion to a common term
  • Upstream/downstream tolerance: MAF upstream/downstream calls are always accepted as matching, since different canonical transcript sets produce different transcript boundaries
  • Sorting: Comma-separated terms are sorted alphabetically for consistent comparison

Datahub Benchmark

Comprehensive validation against cBioPortal/datahub MAF annotations across both assemblies:

TierAssemblyStudiesVariantsConseq MatchTime
datahub_gdcGRCh38322,489,26999.8%~2 min
datahub_allGRCh3743130,612,13099.7%~19 min
Total463~33M99.7%~21 min

Corner Case Tests

66 unit tests covering all mismatch patterns discovered during benchmark analysis, runs in 7ms:

go test ./internal/annotate/ -run 'TestDatahub_|TestEdge_|TestCorner_' -v
FileTestsSource
corner_case_test.go13Manual edge cases + GRCh37 bug fixes
vep_edge_cases_test.go17Ensembl VEP test patterns
datahub_mismatch_test.go36Datahub mismatch mining

Mismatch Collection

Collect all mismatches for analysis:

# GRCh38 mismatches
go test ./internal/output/ -run TestMismatchCollection -v -count=1 -timeout 60m
# Output: testdata/datahub_all/GRCh38/mismatches.json

# GRCh37 mismatches
go test ./internal/output/ -run TestMismatchCollectionGRCh37 -v -count=1 -timeout 120m
# Output: testdata/datahub_all/GRCh37/mismatches.json

GRCh38 Results

32-study GDC benchmark from cBioPortal/datahub:

Generated: 2026-03-16 13:50 UTC
Assembly: GRCh38
Studies: 32
GENCODE transcripts: 252930 (loaded from GTF/FASTA in 16.867s)
Workers: 4 (GOMAXPROCS)
System: Intel(R) Core(TM) i5-7267U CPU @ 3.10GHz (4 cores), 15 GB, Ubuntu 24.04.4 LTS, Go go1.24.1

Match Rates

StudyVariantsConseq MatchConseq MismatchConseq RateHGVSp MatchHGVSp MismatchHGVSp RateHGVSc MatchHGVSc MismatchHGVSc Rate
acc_tcga_gdc82268209099.8%7776094.5%8059098.0%
aml_tcga_gdc569568099.8%537094.4%562098.8%
blca_tcga_gdc116684116484199.8%111298095.4%115024098.6%
brca_tcga_gdc8901288850199.8%85022095.5%87810098.6%
ccrcc_tcga_gdc2550725459399.8%24136094.6%25087098.4%
cesc_tcga_gdc6889368783399.8%65799095.5%67934098.6%
chol_tcga_gdc37643758099.8%3537094.0%3696098.2%
chrcc_tcga_gdc22862275199.5%2084091.2%2242098.1%
coad_tcga_gdc244552244109399.8%230213094.1%241047098.6%
difg_tcga_gdc3030630259199.8%28946095.5%29918098.7%
dlbclnos_tcga_gdc51115082199.4%4818094.3%5012098.1%
esca_tcga_gdc2976029708299.8%28254094.9%29352098.6%
gbm_tcga_gdc5487054749099.8%52157095.1%54154098.7%
hcc_tcga_gdc4529045206199.8%42330093.5%44523098.3%
hgsoc_tcga_gdc3949939410299.8%37206094.2%38822098.3%
hnsc_tcga_gdc8796787789299.8%84024095.5%86813098.7%
luad_tcga_gdc190868190445299.8%182341095.5%188286098.6%
lusc_tcga_gdc170943170532599.8%162883095.3%168648098.7%
mnet_tcga_gdc19461938099.6%1858095.5%1925098.9%
nsgct_tcga_gdc27062697099.7%2396088.5%2658098.2%
paad_tcga_gdc2484924803099.8%23783095.7%24559098.8%
plmeso_tcga_gdc27092704199.8%2554094.3%2656098.0%
prad_tcga_gdc2469424651199.8%23553095.4%24373098.7%
prcc_tcga_gdc1928419240299.8%18094093.8%18890098.0%
skcm_tcga_gdc353450352616399.8%337405095.5%349019098.7%
soft_tissue_tcga_gdc1740517369099.8%16569095.2%17152098.5%
stad_tcga_gdc183107182775799.8%173232094.6%180300098.5%
thpa_tcga_gdc58345825099.8%5570095.5%5746098.5%
thym_tcga_gdc23962393099.9%2272094.8%2365098.7%
ucec_tcga_gdc6265186253641199.8%597805095.4%618791098.8%
ucs_tcga_gdc87748761099.9%8389095.6%8675098.9%
um_tcga_gdc14901489099.9%1424095.6%1462098.1%
Total248926924843005399.8%2368265095.1%2455560098.6%

Consequence Category Breakdown

Studydelins_normalizedgene_model_changematchmismatchno_cds_dataposition_shifttranscript_model_changeupstream_reclassified
acc_tcga_gdc008150072859
aml_tcga_gdc0056601002
blca_tcga_gdc021155791742994905
brca_tcga_gdc00883061782657544
ccrcc_tcga_gdc2025301320914158
cesc_tcga_gdc03682503322547533
chol_tcga_gdc003727041131
chrcc_tcga_gdc002257133418
coad_tcga_gdc532424273193631761682
difg_tcga_gdc00300641211114195
dlbclnos_tcga_gdc0150471619235
esca_tcga_gdc00295072201317201
gbm_tcga_gdc00543780592537371
hcc_tcga_gdc00448741331139332
hgsoc_tcga_gdc01391312362327279
hnsc_tcga_gdc01871742863851615
luad_tcga_gdc021890942219751251351
lusc_tcga_gdc091692585198591401274
mnet_tcga_gdc00193006118
nsgct_tcga_gdc002673060324
paad_tcga_gdc0024633023617170
plmeso_tcga_gdc002678120226
prad_tcga_gdc00244901171411161
prcc_tcga_gdc001908629528154
skcm_tcga_gdc0535004834001952312568
soft_tissue_tcga_gdc0017249014814120
stad_tcga_gdc421815337130671221242
thpa_tcga_gdc005776051349
thym_tcga_gdc002379011114
ucec_tcga_gdc67621274114982204124090
ucs_tcga_gdc018710053451
um_tcga_gdc001477000112
Total17372467026532206953170317274

HGVSc Category Breakdown

Studyboth_emptydelins_normalizeddup_vs_insmaf_emptymatchposition_shifttranscript_model_changevep_empty
acc_tcga_gdc09359805985110
aml_tcga_gdc0312562100
blca_tcga_gdc1082258981150243423012
brca_tcga_gdc810634538878103631530
ccrcc_tcga_gdc1772015725087108570
cesc_tcga_gdc112118525679342151663
chol_tcga_gdc0733136961980
chrcc_tcga_gdc0231822421740
coad_tcga_gdc2590175165324104711184404
difg_tcga_gdc213819329918121510
dlbclnos_tcga_gdc19235501241101
esca_tcga_gdc1201220229352105680
gbm_tcga_gdc3922369541542131000
hcc_tcga_gdc4685632944523230800
hgsoc_tcga_gdc3703227638822202931
hnsc_tcga_gdc125433603868132641871
luad_tcga_gdc252074513291882865164573
lusc_tcga_gdc1411336126016864845141011
mnet_tcga_gdc011819251010
nsgct_tcga_gdc0242626581060
paad_tcga_gdc4551662455971390
plmeso_tcga_gdc0822626561160
prad_tcga_gdc31971582437393410
prcc_tcga_gdc280151541889093500
skcm_tcga_gdc4715226252534901910326445
soft_tissue_tcga_gdc21511181715271460
stad_tcga_gdc137810312371803008914832
thpa_tcga_gdc04449574613180
thym_tcga_gdc020142365780
ucec_tcga_gdc60961524036618791205213238
ucs_tcga_gdc05051867521211
um_tcga_gdc0201214621130
Total25114298481705724555608797528542

HGVSp Category Breakdown

Studyboth_emptydelins_normalizeddup_vs_insfuzzy_fsmaf_emptymaf_nonstandardmatchno_cds_dataposition_shiftsplice_no_proteinsplice_vs_predictedsplice_vs_syntranscript_model_changevep_empty
acc_tcga_gdc2900615415077767781004849
aml_tcga_gdc00015265372100600
blca_tcga_gdc4750134074926211112987430657276176455
brca_tcga_gdc329645284541561850227932594454763455
ccrcc_tcga_gdc983130713948824136211013314144814
cesc_tcga_gdc27220206450143865799321941693972751
chol_tcga_gdc24004623843537412812122
chrcc_tcga_gdc5700207772084312001817
coad_tcga_gdc22811225541342543223021319669143371371100289
difg_tcga_gdc1181019416253528946221031411174917
dlbclnos_tcga_gdc400028261074818642413117
esca_tcga_gdc111212351686782825421851291511221
gbm_tcga_gdc192024463101114521575918114123262532
hcc_tcga_gdc338007262731020423303316745192752143
hgsoc_tcga_gdc161305212418153720636165107321751819
hnsc_tcga_gdc301114275141769840248624933144673249
luad_tcga_gdc71100694109041071823412234345522100574112
lusc_tcga_gdc64812594105339271628832043754820100483101
mnet_tcga_gdc70087351858610111111
nsgct_tcga_gdc370010172092396681110011
paad_tcga_gdc9300771494882378324581151401011
plmeso_tcga_gdc1601172062255429521713
prad_tcga_gdc1001015213947223553178567136719
prcc_tcga_gdc1382125212137818094109720111231819
skcm_tcga_gdc1372402352051794533740540192453172674110259
soft_tissue_tcga_gdc80005598367165691461154116917
stad_tcga_gdc77415251510273544173232130561654795273181
thpa_tcga_gdc280029361135570513322816
thym_tcga_gdc700251254227215211502
ucec_tcga_gdc2556613573336212469597805505162581543810221450
ucs_tcga_gdc300054441628389525405326
um_tcga_gdc30010924142401001810
Total114263422149541414952251236826522347012860426147999691868

Cancer Gene Mismatches

1209 cancer genes have 100% match. Mismatches in 5 gene(s):

GeneVariantsConseq MismatchesHGVSp MismatchesHGVSc Mismatches
VHL224200
BIRC544100
NEGR1143100
PIK3CA1589100
TCF12183100

Performance

StudyVariantsSequentialSeq v/sParallelPar v/sSpeedup
acc_tcga_gdc8226256ms32110121ms681442.12x
aml_tcga_gdc56927ms208779ms616512.95x
blca_tcga_gdc1166844.172s279681.841s633832.27x
brca_tcga_gdc890123.149s282641.399s636362.25x
ccrcc_tcga_gdc25507909ms28061406ms628382.24x
cesc_tcga_gdc688932.328s295991.096s628552.12x
chol_tcga_gdc3764118ms3201354ms690712.16x
chrcc_tcga_gdc228672ms3168540ms572251.81x
coad_tcga_gdc2445527.846s311693.689s662972.13x
difg_tcga_gdc303061.009s30038428ms708532.36x
dlbclnos_tcga_gdc5111160ms3195365ms780552.44x
esca_tcga_gdc297601.074s27698428ms695522.51x
gbm_tcga_gdc548701.76s31171838ms655152.10x
hcc_tcga_gdc452901.491s30370671ms675372.22x
hgsoc_tcga_gdc394991.46s27049686ms575472.13x
hnsc_tcga_gdc879672.854s308191.358s647562.10x
luad_tcga_gdc1908686.065s314692.946s647952.06x
lusc_tcga_gdc1709435.355s319232.674s639382.00x
mnet_tcga_gdc194668ms2865223ms828192.89x
nsgct_tcga_gdc270688ms3070348ms569341.85x
paad_tcga_gdc24849780ms31851369ms673992.12x
plmeso_tcga_gdc270987ms3119234ms805402.58x
prad_tcga_gdc24694829ms29789339ms728212.44x
prcc_tcga_gdc19284658ms29307330ms583991.99x
skcm_tcga_gdc35345010.914s323845.4s654562.02x
soft_tissue_tcga_gdc17405562ms30966276ms630232.04x
stad_tcga_gdc1831076.041s303132.769s661212.18x
thpa_tcga_gdc5834192ms3034582ms711082.34x
thym_tcga_gdc239684ms2837030ms794552.80x
ucec_tcga_gdc62651819.561s320309.34s670822.09x
ucs_tcga_gdc8774288ms30500144ms610062.00x
um_tcga_gdc149064ms2331722ms680822.92x
Total24892691m20.323s3099137.954s655872.12x

GRCh37 Results

431-study benchmark from cBioPortal/datahub:

Generated: 2026-03-16 13:48 UTC
Assembly: GRCh37
Studies: 431
GENCODE transcripts: 196520 (loaded from GTF/FASTA in 20.875s)
Workers: 4 (GOMAXPROCS)
System: Intel(R) Core(TM) i5-7267U CPU @ 3.10GHz (4 cores), 16239572 kB, Ubuntu 24.04.4 LTS, Go go1.24.1

Match Rates

StudyVariantsConseq MatchConseq MismatchConseq RateHGVSp MatchHGVSp MismatchHGVSp RateHGVSc MatchHGVSc MismatchHGVSc Rate
acbc_mskcc_20152542540100.0%240194.5%2441096.1%
acc_20191086710861499.9%9860390.7%1009847692.9%
acc_tcga20166201401699.9%193998096.2%18801123493.2%
acc_tcga_pan_can_atlas_20181166011648199.9%9672183.0%11425098.0%
acyc_fmi_201429290100.0%25086.2%22675.9%
acyc_jhu_20163963960100.0%350088.4%3494088.1%
acyc_mda_2015815813199.8%744091.3%7188088.1%
acyc_mgh_201614541443299.2%1419097.6%1441099.1%
acyc_mskcc_20137087080100.0%688197.2%6783095.8%
acyc_sanger_2013310309199.7%293094.5%2654385.5%
all_phase2_target_2018_pub7647640100.0%746197.6%7461497.6%
all_stjude_20137357350100.0%475064.6%715097.3%
all_stjude_201580800100.0%800100.0%800100.0%
all_stjude_201612711270199.9%783061.6%1223296.2%
aml_ohsu_201899109900599.9%9523596.1%948938195.8%
aml_ohsu_20221196711957299.9%11299294.4%11869299.2%
aml_stjude_202416981697199.9%1490087.8%1576092.8%
aml_target_2018_pub5575570100.0%548098.4%551598.9%
ampca_bcm_201628748287311599.9%275013595.7%24423419385.0%
angs_painter_20251881418776199.8%16055085.3%18519098.4%
angs_project_painter_201824058240342299.9%23563097.9%23996099.7%
appendiceal_msk_202210841082199.8%1044096.3%10501896.9%
asclc_msk_20242402400100.0%231096.2%237298.8%
bcc_unige_201623445323405417699.8%22419919995.6%221914379494.7%
bfn_duke_nus_20154174170100.0%399095.7%4061197.4%
biliary_tract_summit_20221921920100.0%183095.3%188197.9%
bladder_columbia_msk_2018362936290100.0%3342092.1%3502096.5%
bladder_msk_202370006996299.9%6292089.9%6522193.2%
blca_bcan_hcrn_2022560756050100.0%5211092.9%5514098.3%
blca_bgi11239112345100.0%10972697.6%111228399.0%
blca_cornell_201619392193631599.9%18015092.9%19256299.3%
blca_dfarber_mskcc_201421365213211799.8%15808774.0%1928121790.2%
blca_msk_202438193811399.8%3510091.9%3567293.4%
blca_msk_tcga_20201338821337339399.9%115799386.5%13112546597.9%
blca_mskcc_solit_20121031030100.0%99096.1%99496.1%
blca_mskcc_solit_2014117711770100.0%1131196.1%11283195.8%
blca_nmibc_201716091608199.9%1467391.2%14932192.8%
blca_pdx_msk_202525502548199.9%2370092.9%2408594.4%
blca_plasmacytoid_mskcc_20164634630100.0%428092.4%437894.4%
blca_tcga39312392672999.9%385504398.1%37929130496.5%
blca_tcga_pan_can_atlas_20181547021545542499.9%134903287.2%153018098.9%
blca_tcga_pub_20171316601315797699.9%1284511497.6%13045797199.1%
blca_tcga_pub39326392832799.9%385993698.2%38033122096.7%
bm_nsclc_mskcc_2023431243110100.0%4212197.7%41333695.8%
bowel_colitis_msk_2022189618960100.0%1822196.1%1859398.0%
braf_msk_impact_20247947940100.0%744093.7%767096.6%
brain_cptac_202099519914399.6%8215082.6%9443094.9%
brca_bccrc23972394399.9%2362098.5%2381999.3%
brca_bccrc_xenograft_201418689186842100.0%9970053.3%16402087.8%
brca_broad498549832100.0%4794596.2%48796797.9%
brca_cptac_202029018290080100.0%27907096.2%28843099.4%
brca_dfci_20201361313604199.9%11625085.4%13452098.8%
brca_dldccc_202224511245070100.0%23232094.8%24118098.4%
brca_fuscc_20206256250100.0%614098.2%6250100.0%
brca_hta9_htan_2022210321020100.0%983046.7%1936292.1%
brca_igr_201522949229132199.8%20478289.2%227142499.0%
brca_jup_msk_20201041040100.0%1040100.0%1040100.0%
brca_mapk_hp_msk_20216376370100.0%602194.5%6022294.5%
brca_mbcproject_20225597155890399.9%43149077.1%54796097.9%
brca_mbcproject_wagle_201724027240111699.9%23339197.1%238704599.3%
brca_metabric17272172720100.0%16951198.1%1695927198.2%
brca_mskcc_20196586580100.0%635496.5%6173893.8%
brca_pareja_msk_202036943692099.9%3621098.0%3668099.3%
brca_sanger72397231799.9%6828094.3%71832799.2%
brca_smc_201868856876599.9%6770098.3%6872099.8%
brca_tcga90490903535399.8%823988091.1%83686603092.5%
brca_tcga_pan_can_atlas_20181304951303361499.9%108562083.2%127987098.1%
brca_tcga_pub201569968698574999.8%6840811097.8%64894477692.7%
brca_tcga_pub339903397411100.0%301793088.8%32159124994.6%
breast_alpelisib_20208338330100.0%799395.9%7982695.8%
breast_ink4_msk_2021818281791100.0%7708294.2%7988597.6%
breast_msk_201893149307699.9%89291195.9%866244793.0%
ccle_broad_20191212258121123689899.9%11618799895.8%11753691599697.0%
ccle_genentech_201426537526528460100.0%260533098.2%263802099.4%
ccrcc_dfci_201941464129399.6%3558085.8%39456095.2%
ccrcc_irc_2014344434431100.0%3373097.9%33882898.4%
ccrcc_sjuh_202314761472499.7%1075072.8%1383093.7%
ccrcc_utokyo_201376105760963100.0%538807.1%391442151.4%
cellline_ccle_broad91417913624499.9%62730068.6%723534879.1%
cellline_nci6074150737671899.5%38945052.5%594283080.1%
cervix_msk_2023107110710100.0%1048097.9%1055098.5%
cesc_tcga4654746410699.7%387552683.3%4479867696.2%
cesc_tcga_pan_can_atlas_2018100786100687999.9%74203073.6%97985097.2%
cfdna_msk_2019388938890100.0%3766896.8%38153998.1%
chl_sccc_202368126799899.8%6507095.5%6702098.4%
chol_icgc_2017510751070100.0%4899095.9%5061099.1%
chol_jhu_201319801977299.8%1860093.9%1953998.6%
chol_msk_20187677670100.0%727194.8%6816388.8%
chol_nccs_20132432430100.0%238097.9%241299.2%
chol_nus_20122052050100.0%188091.7%202398.5%
chol_tcga67556701599.2%5739685.0%627224492.8%
chol_tcga_pan_can_atlas_201845004493099.8%3064068.1%4333096.3%
cll_broad_201512614126041099.9%0110.0%125177899.2%
cll_broad_20224040140378799.9%39587098.0%40179099.5%
cll_iuopa_201513631136273100.0%9359068.7%131155296.2%
cllsll_icgc_2011111011100100.0%1086097.8%1101099.2%
coad_caseccc_201526962694199.9%2645098.1%2688499.7%
coad_cptac_201973833737425499.9%702201195.1%69673366694.4%
coad_silu_20221401271400141599.9%135106096.4%138705099.0%
coadread_cass_202050415502752999.7%36642872.7%4260568384.5%
coadread_dfci_201633142333069624499.8%27863512084.1%2883473551487.0%
coadread_genentech36271362411799.9%35798098.7%36160599.7%
coadread_mskcc7817810100.0%725092.8%742595.0%
coadread_mskresistance_2022934292911199.5%8363089.5%601328964.4%
coadread_tcga84595845183499.9%818373996.7%81697264896.6%
coadread_tcga_pan_can_atlas_20183326103322746799.9%277247083.4%325236097.8%
coadread_tcga_pub92132920601499.9%88676096.2%914962499.3%
crc_apc_impact_2020459345920100.0%4393195.6%4519298.4%
crc_dd_2022182318230100.0%1775097.4%1812099.4%
crc_eo_202020198201931100.0%19410096.1%19980198.9%
crc_hta11_htan_202153025529331499.8%47864390.3%513406796.8%
crc_hta8_htan_20241871870100.0%180096.3%184198.4%
crc_msk_20171814518123499.9%17826198.2%17967199.0%
crc_nigerian_202015711570099.9%1503095.7%1559099.2%
crc_orion_2024106210620100.0%933087.9%1034097.4%
crc_sysucc_20223568763561138099.8%346751197.2%353984299.2%
cscc_dfarber_201527572754399.9%2640495.8%27252198.8%
cscc_hgsc_bcm_20141080341078266699.8%100415392.9%10091128393.4%
cscc_ucsf_20211461951461950100.0%559623053838.3%000.0%
csf_msk_202439443942199.9%3777095.8%3782395.9%
ctcl_columbia_2015247324730100.0%2449099.0%2470099.9%
desm_broad_201528331282992299.9%26849894.8%281057799.2%
difg_glass_2019240292224025199100.0%13859725.8%130310091754.2%
difg_glass152839515281075100.0%10328916.8%82745778454.1%
difg_msk_2023119411940100.0%1097091.9%1113193.2%
dlbc_broad_20121165511645499.9%11323097.2%11607499.6%
dlbc_tcga16918168471199.6%164522897.2%1631648496.4%
dlbc_tcga_pan_can_atlas_201877847738599.4%6336081.4%7566097.2%
dlbcl_dfci_201820328203101899.9%20047098.6%202129999.4%
dlbcl_duke_2017710571050100.0%6779095.4%70611299.4%
egc_msk_2017224522450100.0%2198397.9%185736882.7%
egc_msk_2023748074780100.0%7192096.1%7351398.3%
egc_msk_tp53_ccr_2022212621251100.0%2049196.4%20097694.5%
egc_mskcc_202034153412399.9%3297196.5%306030689.6%
egc_tmucih_20151386613852799.9%13486397.3%1331349696.0%
egc_trap_ccr_msk_20231470314691299.9%11492078.2%14136996.1%
egc_trap_msk_202065326526299.9%5300081.1%6345597.1%
es_dfarber_broad_201415232152256100.0%14837397.4%149418598.1%
es_dsrct_msk_20233343340100.0%302090.4%314194.0%
es_iocurie_201420432040299.9%1154056.5%1955095.7%
esca_broad31023309961099.9%25133081.0%294411094.9%
esca_tcga58602583862399.6%493685284.2%52464423589.5%
esca_tcga_pan_can_atlas_20184778147724699.9%34077071.3%45749095.7%
escc_icgc72797271599.9%7120097.8%72431499.5%
escc_ucla_2014303230311100.0%2942097.0%29735098.1%
gbc_msk_20188198190100.0%774294.5%7466191.1%
gbc_mskcc_202216531650199.8%1560194.4%15634194.6%
gbc_shanghai_201452655260499.9%1947037.0%4841491.9%
gbm_columbia_2019863858199.4%778090.2%848298.3%
gbm_cptac_2021666766670100.0%4635160669.5%000.0%
gbm_mayo_pdx_sarkaria_20191933931929589899.8%486878525.2%14303395074.0%
gbm_tcga22073220431299.9%211322795.7%20898106694.7%
gbm_tcga_pan_can_atlas_201868802687191499.9%59985087.2%68084099.0%
gbm_tcga_pub20131632516310699.9%158431597.0%1569856396.2%
gbm_tcga_pub4524520100.0%440097.3%4163692.0%
gct_msk_20163343340100.0%325197.3%3161294.6%
gct_msk_2020291281096.6%262090.0%251086.3%
gist_msk_202210791078199.9%9753090.4%9227985.4%
gist_msk_20239929920100.0%899090.6%921092.8%
glioma_msk_2018238523850100.0%000.0%22903796.0%
glioma_mskcc_2019890589041100.0%8133591.3%803521790.2%
hcc_clca_20242832232727881039696.3%59850021.1%2153484176.0%
hcc_inserm_fr_201528170281382299.9%27229096.7%278445598.8%
hcc_jcopo_msk_2023425423299.5%359084.5%357084.0%
hcc_meric_20212448824458899.9%24141098.6%24409099.7%
hcc_msk_202468006796199.9%6275092.3%6411194.3%
hcc_msk_venturaa_201867670100.0%59088.1%60089.6%
hcc_mskimpact_2018605604199.8%521186.1%5061083.6%
hccihch_pku_20191754417535299.9%16928096.5%17430099.4%
heme_msk_impact_20221289312885499.9%12214094.7%12414696.3%
hgsoc_msk_20211831830100.0%175095.6%175095.6%
histiocytosis_cobi_msk_2019419391193.3%324277.3%269864.2%
hnc_mskcc_201613901389099.9%1328195.5%12228187.9%
hnsc_broad96039590999.9%9333497.2%94814498.7%
hnsc_jhu6016010100.0%594098.8%6010100.0%
hnsc_mdanderson_201334713464399.8%33441896.3%33658896.9%
hnsc_tcga12040212022011099.8%11259012393.5%113253543594.1%
hnsc_tcga_pan_can_atlas_20181243751242191499.9%108719087.4%122933098.8%
hnsc_tcga_pub5266952620599.9%50576096.0%51780798.3%
ihch_ismms_20152172170100.0%198091.2%210096.8%
ihch_msk_202116281627199.9%1531094.0%1581097.1%
ihch_mskcc_2020805804199.9%763094.8%788097.9%
ihch_smmu_201497139639299.2%8922091.9%9544098.3%
ilc_msk_202391910100.0%86094.5%85193.4%
kich_tcga75597514999.4%70681493.5%688757791.1%
kich_tcga_pan_can_atlas_201832683264099.9%2756084.3%3225098.7%
kich_tcga_pub17871786199.9%1698295.0%166310493.1%
kirc_bgi5325320100.0%527099.1%5181397.4%
kirc_tcga47012469274099.8%3969410684.4%342821155672.9%
kirc_tcga_pan_can_atlas_20183107331033999.9%26239084.4%30473098.1%
kirc_tcga_pub37725376674099.8%278279073.8%32930279587.3%
kirp_tcga18878187371799.3%181215596.0%16257243486.1%
kirp_tcga_pan_can_atlas_20183437434335499.9%28233082.1%33537097.6%
laml_tcga25842566099.3%2217185.8%231118389.4%
laml_tcga_pan_can_atlas_20181084710831599.9%9314185.9%1046923896.5%
laml_tcga_pub25322526099.8%2210087.3%230917491.2%
lcll_broad_201331253120199.8%2996395.9%30574997.8%
lgg_tcga98859880199.9%9673897.9%922364793.3%
lgg_tcga_pan_can_atlas_20183929939259499.9%35044089.2%38872098.9%
lgg_ucsf_20141515515126999.8%14872098.1%150254999.1%
lgggbm_tcga_pub307293071712100.0%304502299.1%29597109396.3%
lgsoc_mapk_msk_20222022020100.0%195096.5%197097.5%
liad_inserm_fr_201411771174199.7%1121095.2%1161098.6%
lihc_amc_prv27580275611599.9%268661497.4%274544899.5%
lihc_riken53530100.0%530100.0%52198.1%
lihc_tcga53777535452899.6%521996897.1%47631577788.6%
lihc_tcga_pan_can_atlas_201860145600751299.9%48736081.0%58999098.1%
luad_broad65767656712799.9%63538096.6%644902498.1%
luad_cas_20201791717876299.8%14738082.3%17153095.7%
luad_cptac_2020319633119925097.6%2379820374.5%29051172690.9%
luad_msk_npjpo_202135793574299.9%3455096.5%3431895.9%
luad_mskcc_201590499044299.9%8826097.5%9032099.8%
luad_mskcc_202048144809399.9%46501796.6%451312593.7%
luad_mskcc_2023_met_organotropism113828113646999.8%93627182.3%1089195095.7%
luad_mskimpact_2021103010300100.0%1000097.1%984095.5%
luad_oncosg_202073678735595599.8%40518055.0%68222092.6%
luad_tcga72541724273599.8%700633196.6%69016218695.1%
luad_tcga_pan_can_atlas_20182432292428882799.9%215038088.4%240333098.8%
luad_tcga_pub72566724523599.8%700873196.6%69032219495.1%
luad_tsp10171015099.8%982196.6%9851596.9%
lung_msk_201771817173299.9%69853397.3%669327793.2%
lung_msk_mind_202029512947099.9%2875597.4%28123895.3%
lung_msk_pdx39143912099.9%3806097.2%3830097.9%
lung_nci_202287868780099.9%8300194.5%8661198.6%
lung_pdx_msk_20217987980100.0%769096.4%784098.2%
lung_smc_201640744070299.9%3960097.2%4069099.9%
lusc_cptac_202135442353494499.7%341646296.4%345068897.4%
lusc_tcga65305652145299.9%639881098.0%63883120697.8%
lusc_tcga_pan_can_atlas_20181991051988363299.9%174486087.6%196728098.8%
lusc_tcga_pub73018728966299.8%720571098.7%70777116396.9%
lymphoma_cellline_msk_2020111911190100.0%1098698.1%10803296.5%
makeanimpact_ccr_20232542540100.0%247097.2%243295.7%
mbc_msk_2021510509099.8%484094.9%476093.3%
mbl_broad_201218081801499.6%1669292.3%17613397.4%
mbl_dkfz_2017220022000100.0%2033092.4%2111096.0%
mbl_icgc105910590100.0%1043098.5%1056099.7%
mbl_pcgp5585580100.0%514092.1%555199.5%
mbl_sickkids_201647794773699.9%4543195.1%457718495.8%
mbn_mdacc_201345470453963099.8%14965332.9%4123524490.7%
mbn_msk_202457115702599.8%5484096.0%5485296.0%
mcl_idibips_2013653651099.7%611093.6%643198.5%
mds_iwg_202215685156840100.0%14114790.0%15464098.6%
mds_mskcc_202046861467199399.7%43300292.4%46528499.3%
mds_tokyo_20112612610100.0%256098.1%252796.6%
mel_dfci_20191340391338938899.9%129832096.9%1301792597.1%
mel_mskimpact_20201947819451699.9%18657695.8%1754025890.1%
mel_tsam_liang_201733022329831799.9%109851433.3%2896617087.7%
mel_ucla_201626264262171799.8%25233096.1%26070099.3%
meso_tcga61716081398.5%4432371.8%52606785.2%
meso_tcga_pan_can_atlas_201839803974199.8%3276082.3%3887097.7%
metastatic_solid_tumors_mich_201787070868917399.8%818006393.9%80252242392.2%
mixed_allen_20181673071672166799.9%160021095.6%165577099.0%
mixed_cfdna_msk_202018031801099.9%1680093.2%1731096.0%
mixed_impact_subset_20224414410100.0%416094.3%4141293.9%
mixed_kunga_msk_20223373370100.0%2781482.5%2577076.3%
mixed_msk_tcga_2021215021490100.0%2022094.0%2139099.5%
mixed_pipseq_2017525885238310099.6%45508386.5%500394695.2%
mm_broad1114211129799.9%10705096.1%10987198.6%
mng_utoronto_2021153415340100.0%1437393.7%000.0%
mnm_washu_2016801800199.9%492061.4%7303591.1%
mpcproject_broad_20211853918516299.9%11981064.6%17699095.5%
mpn_cimr_2013149614960100.0%1339089.5%14592197.5%
mpnst_mskcc45674557499.8%835018.3%3081067.5%
mrt_bcgsc_2016851850199.9%302035.5%797093.7%
msk_access_202173587348499.9%6964094.6%7047595.8%
msk_ch_202011076110722100.0%10657196.2%10984399.2%
msk_ch_202330074300740100.0%1869115062.2%23107611176.8%
msk_ch_ped_202140400100.0%400100.0%39097.5%
msk_chord_20242085442083887599.9%1998468495.8%200725317696.3%
msk_ctdna_vte_20241059010583099.9%9980094.2%10125595.6%
msk_impact_201778263782112899.9%7449612395.2%71133405590.9%
msk_impact_50k_20264790964787835999.9%455838495.1%45931616195.9%
msk_met_20212304192302459799.9%22014214995.5%216754530394.1%
msk_spectrum_tme_20222882880100.0%263091.3%284098.6%
mtnn_msk_20226466460100.0%609094.3%626096.9%
nbl_amc_20125685680100.0%559098.4%562198.9%
nbl_broad_201352915285599.9%4903092.7%52042898.4%
nbl_target_2018_pub103510350100.0%271026.2%889085.9%
nbl_ucologne_2015920917199.7%876095.2%8951297.3%
nccrcc_genentech_201447084703399.9%4569097.0%46276598.3%
nepc_wcm_2016736373621100.0%7223098.1%7348099.8%
nhl_bcgsc_20117167160100.0%671093.7%712099.4%
nhl_bcgsc_201398469836699.9%8923090.6%9775099.3%
normal_skin_fibroblast_202430062989199.4%2114070.3%2233274.3%
normal_skin_keratinocytes_20242582425760199.8%16145062.5%21495683.2%
normal_skin_melanocytes_20247648076347199.8%32829042.9%678685088.7%
npc_nusingapore15751572399.8%1548098.3%1565299.4%
nsclc_ctdx_msk_202297339719099.9%9339096.0%9319395.7%
nsclc_mskcc_2015418041781100.0%4086097.8%4173099.8%
nsclc_mskcc_201861014609253499.9%257811142.3%3924462764.3%
nsclc_pd1_msk_201825172515199.9%2444797.1%23964795.2%
nsclc_tcga_broad_201639337139285316899.9%3882663998.7%383568319497.5%
nsclc_tracerx_201720901820875612399.9%113526554.3%2009778196.2%
nsclc_unito_20161241240100.0%1240100.0%118695.2%
ntrk_msk_2019440439199.8%416194.5%3794586.1%
odg_msk_20172812810100.0%252189.7%2332782.9%
ov_tcga2021520195999.9%19567896.8%1956636396.8%
ov_tcga_pan_can_atlas_20185320453149899.9%44929084.4%52323098.3%
ov_tcga_pub1942019404799.9%18541595.5%1877636096.7%
paac_jhu_2014274527450100.0%2520191.8%254316192.6%
paac_msk_jco_2023285284099.6%275096.5%271495.1%
paad_cptac_2021632763270100.0%4411142669.7%000.0%
paad_icgc26272625199.9%2493094.9%2595898.8%
paad_qcmg_uq_201623536232572498.8%20902488.8%2271225396.5%
paad_tcga3035730334999.9%30003098.8%303091299.8%
paad_tcga_pan_can_atlas_20183139431360199.9%27384087.2%31091099.0%
paad_utsw_2015725972381799.7%6784393.5%703611296.9%
pact_jhu_20114444440100.0%408091.9%441099.3%
paired_bladder_202229264292421499.9%26744791.4%2715912992.8%
pan_origimed_20209989599839499.9%85708085.8%96383396.5%
pancan_mimsi_msk_202490454904355100.0%86965096.1%894001298.8%
pancan_pcawg_20203829373826784399.9%370669396.8%3758107798.1%
pancreas_msk_2024160916090100.0%1534095.3%1574097.8%
panet_arcnet_201730973090499.8%2610084.3%2929394.6%
panet_jhu_20111571570100.0%153097.5%155298.7%
panet_msk_20189219210100.0%887096.3%911098.9%
panet_msk_erc_20236836830100.0%670098.1%678099.3%
panet_shanghai_201378780100.0%780100.0%780100.0%
past_dkfz_heidelberg_20132362360100.0%230097.5%231297.9%
pcnsl_mayo_201515601558099.9%1520297.4%1550599.4%
pcnsl_msk_2024143314330100.0%1393097.2%1417098.9%
pcpg_tcga466246461599.7%37301980.0%420218090.1%
pcpg_tcga_pan_can_atlas_201826662660099.8%2349088.1%2629098.6%
pcpg_tcga_pub36643658499.8%3400092.8%3630699.1%
pdac_msk_20241060310596599.9%10150095.7%1013021595.5%
pediatric_dkfz_201717989179462299.8%16806593.4%1753629097.5%
plmeso_msk_20241811810100.0%64035.4%140277.3%
plmeso_nyu_2015517515199.6%497096.1%507698.1%
pog570_bcgsc_20208141138814079719100.0%7548800.9%3533913243.4%
pptc_201942900428601899.9%420901198.1%4261115799.3%
prad_broad_201327552750299.8%2617495.0%26824197.4%
prad_broad57645755599.8%5626497.6%56994398.9%
prad_cdk12_mskcc_202040974089799.8%3863394.3%377620992.2%
prad_cpcg_201761526145599.9%6061098.5%6145099.9%
prad_eururol_201750803507993100.0%174133.4%50190898.8%
prad_fhcrc32763327261699.9%19903160.7%3152146696.2%
prad_mcspc_mskcc_202018661865099.9%1788095.8%1827197.9%
prad_mich38533851099.9%3785098.2%3843499.7%
prad_msk_201949490100.0%45091.8%46393.9%
prad_msk_mdanderson_202312975612901031999.4%305071923.5%78861060.8%
prad_msk_stopsack_202190058995099.9%8612095.6%8809297.8%
prad_mskcc_201717091707199.9%1617194.6%151416288.6%
prad_mskcc_cheny1_organoids_20149839830100.0%236224.0%969598.6%
prad_mskcc3203200100.0%304095.0%316398.8%
prad_organoids_msk_20221336213351299.9%13024197.5%13200498.8%
prad_p100095337952424199.9%80740284.7%8713531291.4%
prad_pik3r1_msk_202144734463899.8%4225094.5%420013493.9%
prad_su2c_2015385863801712798.5%223131757.8%29987350277.7%
prad_su2c_201964566644963899.9%508833578.8%493881136176.5%
prad_tcga40731406324999.8%367194790.2%3869191995.0%
prad_tcga_pan_can_atlas_20183419234139799.8%30405088.9%33803098.9%
prad_tcga_pub14045138388398.5%11932085.0%134073695.5%
prostate_dkfz_201810114909649914648095.4%1194901.2%505897350.0%
prostate_msk_20241084510833199.9%10353095.5%10600297.7%
prostate_pcbm_swiss_201927134270565799.7%258869595.4%266146498.1%
ptad_msk_2024861860099.9%847098.4%7702889.4%
rbl_cfdna_msk_202035940359320100.0%17719249.3%290271780.8%
rbl_mskcc_20202782780100.0%259093.2%267096.0%
rectal_msk_2019322232220100.0%3096296.1%291927390.6%
rectal_msk_202236742367092899.9%301593382.1%32680308688.9%
rms_msk_202322220100.0%220100.0%20190.9%
rms_nih_20146416410100.0%528082.4%616196.1%
rt_target_2018_pub122121099.2%100082.0%119097.5%
sarc_mskcc45450100.0%43095.6%450100.0%
sarc_tcga2037620292999.6%16701482.0%1942119195.3%
sarc_tcga_pan_can_atlas_20183148431448199.9%22978073.0%30591097.2%
sarc_tcga_pub1287712817599.5%10589382.2%1236512596.0%
sarcoma_msk_202211535115311100.0%9371181.2%9510482.4%
sarcoma_msk_20233263260100.0%315096.6%315396.6%
sarcoma_ucla_20244674670100.0%392083.9%446095.5%
scco_mskcc19190100.0%17089.5%190100.0%
sclc_cancercell_gardner_201712702012620152399.4%4281660833.7%10880162785.7%
sclc_clcgp87238712699.9%8542097.9%84678097.1%
sclc_jhu79777971299.9%7860098.5%7953199.7%
sclc_uc_202428805287401399.8%26915193.4%278182096.6%
sft_sysucc_2023128212820100.0%1229095.9%1223095.4%
skcm_broad_brafresist_201247618475632699.9%461763897.0%43712277391.8%
skcm_broad2392552390328399.9%87802836.7%21548120890.1%
skcm_broad_dfarber93189305599.9%9124197.9%89931696.5%
skcm_dfci_201554242541861899.9%53085097.9%54077099.7%
skcm_mskcc_201438543384911999.9%37437097.1%38349099.5%
skcm_tcga32415832364727999.8%3097474195.6%32154572599.2%
skcm_tcga_pan_can_atlas_20185568645560878199.9%492557088.5%552040099.1%
skcm_tcga_pub_201529034128957925399.7%2789684096.1%27808276195.8%
skcm_vanderbilt_mskcc_20158228220100.0%811098.7%7664993.2%
skcm_yale26169261607100.0%25932099.1%252364196.4%
soft_tissue_msk_202378780100.0%77098.7%75096.2%
stad_oncosg_201886130986112339100.0%3210013.7%22327755900025.9%
stad_pfizer_uhongkong17901178742399.8%17221896.2%16152165790.2%
stad_tcga2092172090277299.9%1905196891.1%1911351443491.4%
stad_tcga_pan_can_atlas_20182426052423674199.9%212589087.6%238161098.2%
stad_tcga_pub1485201484254699.9%1450172397.6%142396522295.9%
stad_uhongkong70367025699.8%4554064.7%556486779.1%
stad_utokyo66166611599.9%2412136.5%55546883.9%
stes_tcga_pub2418982415308899.8%21646710789.5%2198591703190.9%
summit_2018104210420100.0%9801994.0%86914283.4%
tet_nci_20147907900100.0%729092.3%775698.1%
tgct_tcga14672146031099.5%12034382.0%139049394.8%
tgct_tcga_pan_can_atlas_201834183410399.8%2737080.1%3337097.6%
thca_tcga74587453199.9%7180296.3%73681998.8%
thca_tcga_pan_can_atlas_20181185711845299.9%10246086.4%11730098.9%
thca_tcga_pub677267690100.0%6527296.4%66691598.5%
thym_tcga30642998397.8%2500281.6%279211691.1%
thym_tcga_pan_can_atlas_201849194909299.8%3460070.3%4657094.7%
thyroid_mskcc_20165645640100.0%495487.8%4742784.0%
tmb_mskcc_201820563205411199.9%195762595.2%18458105189.8%
uccc_nih_201717001699199.9%1607094.5%1677198.6%
ucec_ancestry_cds_msk_202315228152271100.0%13973091.8%14947498.2%
ucec_ccr_cfdna_msk_20225975970100.0%569095.3%588098.5%
ucec_cptac_202052063513658298.7%494414095.0%44734567785.9%
ucec_msk_2018254525450100.0%2441495.9%224127888.1%
ucec_msk_2024156815680100.0%1494195.3%15124596.4%
ucec_tcga18486118455110899.8%1757603695.1%18321463199.1%
ucec_tcga_pan_can_atlas_20189356569348304299.9%704406075.3%906669096.9%
ucec_tcga_pub18482618451610899.8%1757423695.1%18319662699.1%
ucs_jhu_20141914819135799.9%17934293.7%1880021398.2%
ucs_msk_2024382538250100.0%3733097.6%3803199.4%
ucs_tcga1133911251599.2%9977188.0%1069016394.3%
ucs_tcga_pan_can_atlas_20181040910401099.9%9034086.8%10282098.8%
um_qimr_20162992990100.0%289096.7%2761992.3%
urcc_mskcc_20161591590100.0%155097.5%157298.7%
usarc_msk_20203463460100.0%337197.4%3231693.4%
utuc_cornell_baylor_mdacc_2019413241311100.0%4088098.9%4122299.8%
utuc_igbmc_2021425442520100.0%4135097.2%4237099.6%
utuc_msk_2019227322730100.0%2168695.4%21419794.2%
utuc_mskcc_2015111211120100.0%1074096.6%10891197.9%
utuc_pdx_msk_2019212821280100.0%1984093.2%2082097.8%
uvm_tcga21742172299.9%2068095.1%21441298.6%
uvm_tcga_pan_can_atlas_201819351934099.9%1749090.4%1923099.4%
vsc_cuk_201830373034199.9%2948297.1%29962598.6%
wt_target_2018_pub882879399.7%8401095.2%8205193.0%
Total30612130305296356487999.7%143935163800247.0%2199355980299471.8%

Consequence Category Breakdown

Studydelins_normalizedgene_model_changematchmismatchno_cds_dataposition_shifttranscript_model_changeupstream_reclassified
acbc_mskcc_20150025400000
acc_201900107354101126
acc_tcga10201011672039
acc_tcga_pan_can_atlas_201800115251551123
acyc_fmi_2014002900000
acyc_jhu_20160039400002
acyc_mda_20150080611007
acyc_mgh_201609143920004
acyc_mskcc_20130070800000
acyc_sanger_20130030810001
all_phase2_target_2018_pub0076000004
all_stjude_201300720000015
all_stjude_2015008000000
all_stjude_2016001234100036
aml_ohsu_201800990054100
aml_ohsu_20220011917244040
aml_stjude_202400169710000
aml_target_2018_pub0055600001
ampca_bcm_201600286891520042
angs_painter_2025031855717252219
angs_project_painter_201800239742200260
appendiceal_msk_202210108010002
asclc_msk_20240024000000
bcc_unige_20167602335201761221510534
bfn_duke_nus_20150041700000
biliary_tract_summit_20220019100001
bladder_columbia_msk_20180035060000123
bladder_msk_20230066162020380
blca_bcan_hcrn_202210560000015
blca_bgi0011220500014
blca_cornell_20160019252151130111
blca_dfarber_mskcc_201400211321713113189
blca_msk_20242036443300167
blca_msk_tcga_2020031330769334712657
blca_mskcc_solit_20120010300000
blca_mskcc_solit_201400116900008
blca_nmibc_2017001529100079
blca_pdx_msk_2025002467101081
blca_plasmacytoid_mskcc_201600452000011
blca_tcga013921029123057
blca_tcga_pan_can_atlas_20180315345124427181103
blca_tcga_pub_20170313141776011162
blca_tcga_pub013923027123053
bm_nsclc_mskcc_2023104299000012
bowel_colitis_msk_2022001885000011
braf_msk_impact_202400776000018
brain_cptac_202000970432275210
brca_bccrc00239130003
brca_bccrc_xenograft_201400180002300684
brca_broad00497620007
brca_cptac_2020002888000100128
brca_dfci_202000134651440139
brca_dldccc_202200241430220364
brca_fuscc_20200062500000
brca_hta9_htan_2022002024010078
brca_igr_201500228312191582
brca_jup_msk_20200010400000
brca_mapk_hp_msk_20210063600001
brca_mbcproject_20220054898327492992
brca_mbcproject_wagle_201700239621600049
brca_metabric001727200000
brca_mskcc_20190065700001
brca_pareja_msk_2020003681002011
brca_sanger007217710014
brca_smc_201800687253014
brca_tcga03990022533564331
brca_tcga_pan_can_atlas_201830129091146067151245
brca_tcga_pub20152196982949279528
brca_tcga_pub003370111302273
breast_alpelisib_20200083300000
breast_ink4_msk_2021108165101014
breast_msk_2018109294600013
ccle_broad_2019847120928589852351951
ccle_genentech_2014042637576071281527
ccrcc_dfci_20190041123001417
ccrcc_irc_201400344310000
ccrcc_sjuh_202300147240000
ccrcc_utokyo_2013006931931146777
cellline_ccle_broad5090326440061036
cellline_nci6002735471801362220
cervix_msk_202300107000001
cesc_tcga0122459036225507
cesc_tcga_pan_can_atlas_201812988309314881857
cfdna_msk_201900388600003
chl_sccc_2023006741804158
chol_icgc_2017005090000017
chol_jhu_201300197321004
chol_msk_20180076100006
chol_nccs_20130024300000
chol_nus_20120020500000
chol_tcga0486650501051
chol_tcga_pan_can_atlas_2018004394034099
cll_broad_20150012598100006
cll_broad_2022014024570150133
cll_iuopa_201501132743000353
cllsll_icgc_201100110900001
coad_caseccc_201500269111003
coad_cptac_20190073482542971260
coad_silu_2022001391681528691846
coadread_cass_2020004980929143562466
coadread_dfci_201603183291312447811761565
coadread_genentech013621017100231
coadread_mskcc0077900002
coadread_mskresistance_202236092761101315
coadread_tcga0084390343751128
coadread_tcga_pan_can_atlas_20181032942567125125182849
coadread_tcga_pub30918321437171228
crc_apc_impact_2020004577001015
crc_dd_202200181600007
crc_eo_20200020170104023
crc_hta11_htan_202120522931428444640
crc_hta8_htan_20240018700000
crc_msk_201701318085414038
crc_nigerian_202000156800102
crc_orion_202400105400008
crc_sysucc_202202333543548014530141759
cscc_dfarber_2015002743300011
cscc_hgsc_bcm_20147601074106650151416
cscc_ucsf_20210014619500000
csf_msk_2024003890100152
ctcl_columbia_201500247300000
desm_broad_201500282132273086
difg_glass_2019140215123399915599251286
difg_glass220137217757612263155930
difg_msk_2023001124000070
dlbc_broad_20122011623431022
dlbc_tcga060168141100033
dlbc_tcga_pan_can_atlas_201810763655341102
dlbcl_dfci_20180020307180003
dlbcl_duke_201700710500000
egc_msk_201700224300002
egc_msk_202310746900109
egc_msk_tp53_ccr_202200212310002
egc_mskcc_202000341030002
egc_tmucih_20150013840724112
egc_trap_ccr_msk_202310143712360320
egc_trap_msk_2020006452222074
es_dfarber_broad_20140015209601016
es_dsrct_msk_202300321000013
es_iocurie_2014001964200176
esca_broad003074110629255
esca_tcga01885791423104472
esca_tcga_pan_can_atlas_20180046756626232968
escc_icgc017258520013
escc_ucla_201400302810003
gbc_msk_20180081200007
gbc_mskcc_2022001637101113
gbc_shanghai_20140050114001249
gbm_columbia_20190185610122
gbm_cptac_202100666700000
gbm_mayo_pdx_sarkaria_20190117848998272028914469
gbm_tcga002197712135066
gbm_tcga_pan_can_atlas_201810682691429381450
gbm_tcga_pub20130016289681021
gbm_tcga_pub0045200000
gct_msk_20160033400000
gct_msk_20209128100000
gist_msk_202200107410004
gist_msk_20230099100001
glioma_msk_2018002327000058
glioma_mskcc_20190083071000597
hcc_clca_20245322146510396816751323
hcc_inserm_fr_2015002790922811229
hcc_jcopo_msk_202300369200054
hcc_meric_202100244228120136
hcc_msk_20240065631012233
hcc_msk_venturaa_2018006000007
hcc_mskimpact_201800534100070
hccihch_pku_20190017456233179
heme_msk_impact_20223012824401061
hgsoc_msk_20210018300000
histiocytosis_cobi_msk_201924139110020
hnc_mskcc_2016101352000037
hnsc_broad009578931012
hnsc_jhu0060100000
hnsc_mdanderson_2013003454311210
hnsc_tcga0231197631104243457
hnsc_tcga_pan_can_atlas_2018101233241456832895
hnsc_tcga_pub2052279526151341
ihch_ismms_20150021600001
ihch_msk_2021001608100019
ihch_mskcc_20200079910005
ihch_smmu_201405896002014039
ilc_msk_2023009000001
kich_tcga0347492911022
kich_tcga_pan_can_atlas_2018003244003120
kich_tcga_pub00178510001
kirc_bgi0053100001
kirc_tcga02346727401552200
kirc_tcga_pan_can_atlas_20181030810915141223
kirc_tcga_pub0037159401071508
kirp_tcga0123187091700128
kirp_tcga_pan_can_atlas_2018003402348225312
laml_tcga0122544041122
laml_tcga_pan_can_atlas_20180010778581253
laml_tcga_pub002504041122
lcll_broad_201300311413106
lgg_tcga009869140011
lgg_tcga_pan_can_atlas_20180039030420151229
lgg_ucsf_20149015109983017
lgggbm_tcga_pub00307061200011
lgsoc_mapk_msk_20220020200000
liad_inserm_fr_201400116510209
lihc_amc_prv00275141500447
lihc_riken005300000
lihc_tcga0202534672820078
lihc_tcga_pan_can_atlas_201800594581222333617
luad_broad17265520274442151
luad_cas_20200017315212225561
luad_cptac_20200603119925023913400
luad_msk_npjpo_2021203561200113
luad_mskcc_2015009028221016
luad_mskcc_2020104789300120
luad_mskcc_2023_met_organotropism36211185297055101794
luad_mskimpact_202100103000000
luad_oncosg_2020057169255412161867
luad_tcga25072286355031141
luad_tcga_pan_can_atlas_20181224129327157143111595
luad_tcga_pub25072311354932141
luad_tsp20101400001
lung_msk_2017607148200025
lung_msk_mind_2020202935000212
lung_msk_pdx203895000017
lung_nci_2022008698042082
lung_pdx_msk_20210079300005
lung_smc_201600406720203
lusc_cptac_202186351354451713214
lusc_tcga0065109523810105
lusc_tcga_pan_can_atlas_2018111974053290128171431
lusc_tcga_pub1907282062401076
lymphoma_cellline_msk_202000111600003
makeanimpact_ccr_20230025400000
mbc_msk_20210050401005
mbl_broad_201200180041111
mbl_dkfz_2017002143000057
mbl_icgc00105600003
mbl_pcgp0055700001
mbl_sickkids_2016004758600015
mbn_mdacc_201300434543002421942
mbn_msk_2024405677500025
mcl_idibips_20130264900002
mds_iwg_20220015613001071
mds_mskcc_20200454658993310130
mds_tokyo_20110026100000
mel_dfci_2019298133636880120257
mel_mskimpact_2020210188086000643
mel_tsam_liang_201700316861762141297
mel_ucla_20160026046172811171
meso_tcga0825999340182
meso_tcga_pan_can_atlas_2018003912141062
metastatic_solid_tumors_mich_2017688655073401438341
mixed_allen_201800166442670123774
mixed_cfdna_msk_2020001754002047
mixed_impact_subset_20220043500006
mixed_kunga_msk_20220033700000
mixed_msk_tcga_202100214200017
mixed_pipseq_20170251985100384223398
mm_broad10110177401112
mng_utoronto_202100153400000
mnm_washu_201600783100017
mpcproject_broad_2021001822725124289
mpn_cimr_2013001484000012
mpnst_mskcc0640284000529
mrt_bcgsc_201600821100029
msk_access_2021307252402196
msk_ch_20202011034200038
msk_ch_2023003007400000
msk_ch_ped_2021004000000
msk_chord_2024450207906750630482
msk_ctdna_vte_202440104200012163
msk_impact_201724076817280001394
msk_impact_50k_2026131047155059092317233
msk_met_20215702275519707132694
msk_spectrum_tme_20220028800000
mtnn_msk_20220064200004
nbl_amc_20120056800000
nbl_broad_201300527851007
nbl_target_2018_pub00962000073
nbl_ucologne_20151091411003
nccrcc_genentech_201400470032003
nepc_wcm_2016007347100015
nhl_bcgsc_20110071200004
nhl_bcgsc_2013009779640057
normal_skin_fibroblast_20246028791244110
normal_skin_keratinocytes_2024260247371717131023
normal_skin_melanocytes_20242707195113256174396
npc_nusingapore00156730005
nsclc_ctdx_msk_20223096890001130
nsclc_mskcc_201500417111007
nsclc_mskcc_2018065682034145304105
nsclc_pd1_msk_2018102503100012
nsclc_tcga_broad_20161225392622168202201231
nsclc_tracerx_2017350204967123798173789
nsclc_unito_20160012400000
ntrk_msk_201900429100010
odg_msk_201700260000021
ov_tcga0020174973121
ov_tcga_pan_can_atlas_20180152760817263389
ov_tcga_pub0019365772039
paac_jhu_2014002731000014
paac_msk_jco_20231028400000
paad_cptac_202100632700000
paad_icgc00261911006
paad_qcmg_uq_2016123723150245012107
paad_tcga00303059140029
paad_tcga_pan_can_atlas_20180031163121102197
paad_utsw_20150072071721131
pact_jhu_20110044200002
paired_bladder_20223027682140411560
pan_origimed_20204098646402461193
pancan_mimsi_msk_202440902045091231
pancan_pcawg_202061138107643015311602
pancreas_msk_202400160900000
panet_arcnet_2017003075420115
panet_jhu_20110015700000
panet_msk_20180091700004
panet_msk_erc_20230068200001
panet_shanghai_2013007800000
past_dkfz_heidelberg_20130023400002
pcnsl_mayo_201500155302005
pcnsl_msk_202400143000003
pcpg_tcga0045941510052
pcpg_tcga_pan_can_atlas_2018002644015016
pcpg_tcga_pub00365042008
pdac_msk_20241010584500112
pediatric_dkfz_2017001789122181255
plmeso_msk_202400171000010
plmeso_nyu_20150051311002
pog570_bcgsc_20200106733712319937053803674
pptc_2019004281318202047
prad_broad_201300274122019
prad_broad00575154004
prad_cdk12_mskcc_202000408570104
prad_cpcg_201700614052005
prad_eururol_201700503433100456
prad_fhcrc0032391161218335
prad_mcspc_mskcc_202000186200103
prad_mich00384902002
prad_msk_2019004900000
prad_msk_mdanderson_20230356803763192246348634
prad_msk_stopsack_2021008987001008
prad_mskcc_201710170510002
prad_mskcc_cheny1_organoids_20140097900004
prad_mskcc0031900001
prad_organoids_msk_20221113282207069
prad_p10003095034411347208
prad_pik3r1_msk_202100446080203
prad_su2c_201504253694012752101077
prad_su2c_20190063963382129533
prad_tcga03440423491141209
prad_tcga_pan_can_atlas_20180033945712313194
prad_tcga_pub01161370483503134
prostate_dkfz_2018088698574648083095134
prostate_msk_202400108221011011
prostate_pcbm_swiss_2019002684057876216
ptad_msk_20240085700103
rbl_cfdna_msk_2020003492400081008
rbl_mskcc_20200027700001
rectal_msk_201900322000002
rectal_msk_2022003608728311622
rms_msk_2023002200000
rms_nih_201400624000017
rt_target_2018_pub0111900002
sarc_mskcc004500000
sarc_tcga067201199017173
sarc_tcga_pan_can_atlas_2018013086519232583
sarc_tcga_pub054127155001102
sarcoma_msk_20223011518100013
sarcoma_msk_20230032500001
sarcoma_ucla_202400457000010
scco_mskcc001900000
sclc_cancercell_gardner_20170140123400523566942801
sclc_clcgp50870960003
sclc_jhu007960240011
sclc_uc_2024110283581315224382
sft_sysucc_2023001254000028
skcm_broad_brafresist_20127047461262002102
skcm_broad19123054883718418484
skcm_broad_dfarber109268560137
skcm_dfci_20150054028183521158
skcm_mskcc_20140038312192751179
skcm_tcga025322756279179208891
skcm_tcga_pan_can_atlas_20180155234681318351263741
skcm_tcga_pub_20157019328854325317522491036
skcm_vanderbilt_mskcc_20150081500007
skcm_yale0026138720022
soft_tissue_msk_2023007800000
stad_oncosg_201802885836039001192763
stad_pfizer_uhongkong00178522331022
stad_tcga010620850372075524
stad_tcga_pan_can_atlas_2018332409074181100101460
stad_tcga_pub00148266464351159
stad_uhongkong006998601427
stad_utokyo0063395000272
stes_tcga_pub026524062088168910
summit_2018001022000020
tet_nci_20140078500005
tgct_tcga0551446910310134
tgct_tcga_pan_can_atlas_2018003363330247
thca_tcga117440111013
thca_tcga_pan_can_atlas_20180011756255089
thca_tcga_pub106726011043
thym_tcga0602977300321
thym_tcga_pan_can_atlas_20181048052331104
thyroid_mskcc_201600503000061
tmb_mskcc_20181102002311000518
uccc_nih_201700169010009
ucec_ancestry_cds_msk_20230015168100059
ucec_ccr_cfdna_msk_20220059200005
ucec_cptac_20200945136582211083930
ucec_msk_201800254200003
ucec_msk_202400156700001
ucec_tcga012018399710870102554
ucec_tcga_pan_can_atlas_2018412920557423263954714273
ucec_tcga_pub012018396310865107553
ucs_jhu_20140019081741154
ucs_msk_202400381700008
ucs_tcga07911203530148
ucs_tcga_pan_can_atlas_20180110323034078
um_qimr_20160029600003
urcc_mskcc_20160015900000
usarc_msk_20200034500001
utuc_cornell_baylor_mdacc_201900412610005
utuc_igbmc_202100424401108
utuc_msk_2019002241000032
utuc_mskcc_201500110300009
utuc_pdx_msk_2019002087000041
uvm_tcga00217120001
uvm_tcga_pan_can_atlas_201800192600108
vsc_cuk_201802302710007
wt_target_2018_pub0087730002
Total1273458028972869648794643407730431556766

HGVSc Category Breakdown

Studyboth_emptydelins_normalizeddup_vs_insmaf_emptymatchmismatchposition_shifttranscript_model_changevep_empty
acbc_mskcc_2015000024410000
acc_201910561699100984761660
acc_tcga1233122918801123414310
acc_tcga_pan_can_atlas_20182191612211425066100
acyc_fmi_20140000226100
acyc_jhu_2016203034940020
acyc_mda_2015161671880120
acyc_mgh_2016000414410009
acyc_mskcc_2013000067830000
acyc_sanger_2013000126543010
all_phase2_target_2018_pub000474614000
all_stjude_2013401137150200
all_stjude_20150000800000
all_stjude_201612412412232410
aml_ohsu_20180016094893812310
aml_ohsu_20220013421186924010
aml_stjude_202409681315760500
aml_target_2018_pub00015515000
ampca_bcm_201610055332442341930340
angs_painter_2025380131911851904823
angs_project_painter_201820058239960200
appendiceal_msk_20222820105018400
asclc_msk_202401002372000
bcc_unige_2016997992244652219143794421230
bfn_duke_nus_2015000040611000
biliary_tract_summit_202212001881000
bladder_columbia_msk_2018111001235020400
bladder_msk_202336974811652211500
blca_bcan_hcrn_2022044235551402100
blca_bgi0051411122831230
blca_cornell_2016430088192562300
blca_dfarber_mskcc_2014100627429019281217796761
blca_msk_202414463624356721030
blca_msk_tcga_2020203158664456131125465725815
blca_mskcc_solit_20120000994000
blca_mskcc_solit_20147811112831100
blca_nmibc_2017791220149321200
blca_pdx_msk_2025724741024085310
blca_plasmacytoid_mskcc_2016123004378300
blca_tcga201155379291304371
blca_tcga_pan_can_atlas_2018301478011621530180228325
blca_tcga_pub_201790141551304579715103
blca_tcga_pub221151380331220331
bm_nsclc_mskcc_20236114464133361300
bowel_colitis_msk_20226113818593600
braf_msk_impact_2024188107670000
brain_cptac_20201440951179443099530
brca_bccrc000323819400
brca_bccrc_xenograft_2014199000297164020000
brca_broad214115487967340
brca_cptac_202000131282884303400
brca_dfci_202020011221345201800
brca_dldccc_202228018342241180410
brca_fuscc_202000006250000
brca_hta9_htan_202231202554193623050
brca_igr_2015340985622714242120
brca_jup_msk_202000001040000
brca_mapk_hp_msk_2021191060222200
brca_mbcproject_202223008818547960108101
brca_mbcproject_wagle_20170088223870452110
brca_metabric0070169592713500
brca_mskcc_2019001161738100
brca_pareja_msk_202000011366801500
brca_sanger50311718327910
brca_smc_2018000468720630
brca_tcga801453288368660301923539
brca_tcga_pan_can_atlas_201827171229124112798707331061
brca_tcga_pub20150188212864894477638419
brca_tcga_pub21037914432159124959870
breast_alpelisib_2020071079826100
breast_ink4_msk_20215126159798853400
breast_msk_2018813519586624473710
ccle_broad_2019238515931101311175369159961252347
ccle_genentech_20142900150126380203481
ccrcc_dfci_201930451739456059170
ccrcc_irc_201402300338828500
ccrcc_sjuh_202300660138302700
ccrcc_utokyo_2013349120350102639144214581940
cellline_ccle_broad516599220913386723534819363700
cellline_nci6010508327116594283059801613
cervix_msk_20231130010550200
cesc_tcga270215494447986766209122
cesc_tcga_pan_can_atlas_201823802861842979850514524
cfdna_msk_201903103381539100
chl_sccc_2023017763670202210
chol_icgc_201700917506102000
chol_jhu_20130111419539110
chol_msk_20186120068163500
chol_nccs_201300002412000
chol_nus_201200002023000
chol_tcga2003366272244113148
chol_tcga_pan_can_atlas_20183112596433303020
cll_broad_201530361251778700
cll_broad_202200441334017904401
cll_iuopa_201533411733413115523621
cllsll_icgc_2011070111010010
coad_caseccc_2015101226884000
coad_cptac_201989032189696733666121630
coad_silu_202200868461387050475150
coadread_cass_20200211156487426056836242310
coadread_dfci_201663303789104128834735514321662405
coadread_genentech407273616056611
coadread_mskcc032027425000
coadread_mskresistance_2022929751210601328914200
coadread_tcga1907711481697264810300
coadread_tcga_pan_can_atlas_20187520911272815325236028323106
coadread_tcga_pub1921578213914962466210
crc_apc_impact_2020113354451921900
crc_dd_2022320418120200
crc_eo_2020211161431998016300
crc_hta11_htan_2021165396755375134067411340
crc_hta8_htan_202402001841000
crc_msk_20171974102017967141013
crc_nigerian_2020103115590700
crc_orion_20240368103401100
crc_sysucc_2022730861761353984279810162
cscc_dfarber_201500011272521000
cscc_hgsc_bcm_201417862193824310091128390720
cscc_ucsf_202112090014498600000
csf_msk_2024488414378232200
ctcl_columbia_2015000024700300
desm_broad_20154911054281057722130
difg_glass_201999675334311082760356130310091718998849644
difg_glass628556259588503756782745778415647691722
difg_msk_20236871211131200
dlbc_broad_2012132009116074110
dlbc_tcga6010291631648421160
dlbc_tcga_pan_can_atlas_201882313102756607020
dlbcl_dfci_201800532021299900
dlbcl_duke_2017012170706112300
egc_msk_2017211401857368300
egc_msk_202356664735134500
egc_msk_tp53_ccr_2022025222009761200
egc_mskcc_20203303030603061300
egc_tmucih_2015002912133134961420
egc_trap_ccr_msk_20238873522571413698530
egc_trap_msk_202034233251634554110
es_dfarber_broad_2014165391614941851210
es_dsrct_msk_2023124113141100
es_iocurie_201425025319550800
esca_broad2196652513129441104401910
esca_tcga104834945246442357730188
esca_tcga_pan_can_atlas_20181396291960457490604680
escc_icgc50210724314401
escc_ucla_20141012297350230
gbc_msk_2018740074661100
gbc_mskcc_2022142600156341900
gbc_shanghai_201415131431234841445270
gbm_columbia_201910728482300
gbm_cptac_2021900665800000
gbm_mayo_pdx_sarkaria_2019715702075385421430339501143415222
gbm_tcga12018552089810665190
gbm_tcga_pan_can_atlas_2018104055452680840148130
gbm_tcga_pub20132101819156985631050
gbm_tcga_pub000041636000
gct_msk_2016050031612100
gct_msk_2020036102510201
gist_msk_202225742922791300
gist_msk_20230525192101300
glioma_msk_201858000229037000
glioma_mskcc_2019595346280352171600
hcc_clca_20243831911031748234042153484124458105
hcc_inserm_fr_2015159028327844551980
hcc_jcopo_msk_2023537213570500
hcc_meric_2021007362440903600
hcc_msk_2024222109312641114200
hcc_msk_venturaa_20187000600000
hcc_mskimpact_201867160350610300
hccihch_pku_20191604701743002220
heme_msk_impact_20222434018401241465100
hgsoc_msk_202108001750000
histiocytosis_cobi_msk_20190130612698401
hnc_mskcc_2016374910122281000
hnsc_broad060312948144300
hnsc_jhu00006010000
hnsc_mdanderson_201300410336588130
hnsc_tcga5011045311325354356111822
hnsc_tcga_pan_can_atlas_2018321221188671229330274290
hnsc_tcga_pub254332031951780761240
ihch_ismms_201540022100100
ihch_msk_2021181621158101000
ihch_mskcc_202056107880500
ihch_smmu_20144024379544042458
ilc_msk_20231400851000
kich_tcga20624688757712834
kich_tcga_pan_can_atlas_201803320322501520
kich_tcga_pub101001663104360
kirc_bgi000151813000
kirc_tcga8803661423428211556754823
kirc_tcga_pan_can_atlas_2018914262218304730143260
kirc_tcga_pub25714243283293027957232670
kirp_tcga302225162572434311123
kirp_tcga_pan_can_atlas_20184188111313335370197231
laml_tcga48159231118331212
laml_tcga_pan_can_atlas_2018211338381046923812180
laml_tcga_pub2015823091743120
lcll_broad_20130227305749710
lgg_tcga001119223647030
lgg_tcga_pan_can_atlas_201843039227388720110161
lgg_ucsf_20140496171502549630
lgggbm_tcga_pub0011152959710931210
lgsoc_mapk_msk_202203001970200
liad_inserm_fr_2014001911610600
lihc_amc_prv12014627454484150
lihc_riken0000521000
lihc_tcga24024554763157771648202
lihc_tcga_pan_can_atlas_201819138125608589990239170
luad_broad37101013117644902441332
luad_cas_202016508140817153010190
luad_cptac_2020005029051172686025962
luad_msk_npjpo_2021101152434318900
luad_mskcc_20154001290320100
luad_mskcc_2020161393545131251300
luad_mskcc_2023_met_organotropism6411972278132010891950593532
luad_mskimpact_2021037209840700
luad_oncosg_2020296906167506822207723445
luad_tcga3210283511769016218646810
luad_tcga_pan_can_atlas_20187153516115322403330514785
luad_tcga_pub3210283511769032219447810
luad_tsp1131198515010
lung_msk_2017181636866932771600
lung_msk_mind_2020108002281238900
lung_msk_pdx145423383001100
lung_nci_20222801157866112620
lung_pdx_msk_202105057840400
lung_smc_2016200140690200
lusc_cptac_202144516181733450688651418
lusc_tcga37015766388312066820
lusc_tcga_pan_can_atlas_20186031813313761967280413761
lusc_tcga_pub395611897077711636130
lymphoma_cellline_msk_20202031108032100
makeanimpact_ccr_202309002432000
mbc_msk_2021600284760000
mbl_broad_20120431176133330
mbl_dkfz_2017506311211101900
mbl_icgc100210560000
mbl_pcgp10015551000
mbl_sickkids_2016101144577184020
mbn_mdacc_201343201111151041235244889490
mbn_msk_20242162127548523200
mcl_idibips_201300426431102
mds_iwg_2022126744671546403100
mds_mskcc_20200635113146528439045
mds_tokyo_201100202527000
mel_dfci_201956292124121813017925330618
mel_mskimpact_20206261021317175402581300
mel_tsam_liang_20173102115610182896617012831170
mel_ucla_20165420136260700110
meso_tcga1011855260671465182
meso_tcga_pan_can_atlas_2018013462388701040
metastatic_solid_tumors_mich_201715130262522458025224235771440
mixed_allen_2018671042374116557703731160
mixed_cfdna_msk_202047380173101400
mixed_impact_subset_2022671041412100
mixed_kunga_msk_2022251125770100
mixed_msk_tcga_2021003721390100
mixed_pipseq_201717947611229500394613081272
mm_broad9537118109871120
mng_utoronto_2021000153400000
mnm_washu_201613081073035320
mpcproject_broad_20211450258183176990205490
mpn_cimr_20135027145921200
mpnst_mskcc112308410430810147226
mrt_bcgsc_2016607257970970
msk_access_20219317914704752900
msk_ch_202034211541098431500
msk_ch_20231341022074623107611136115
msk_ch_ped_20210100390000
msk_chord_20244053173224104200725317673610
msk_ctdna_vte_202415423116221012553700
msk_impact_201713551428644071133405518710
msk_impact_50k_2026686110125407414459316161181110
msk_met_202125704779184142216754530368610
msk_spectrum_tme_202202002840200
mtnn_msk_2022114136260100
nbl_amc_201204005621100
nbl_broad_201303667520428550
nbl_target_2018_pub13200148890000
nbl_ucologne_2015281289512000
nccrcc_genentech_20140033462765730
nepc_wcm_20160001573480000
nhl_bcgsc_201110037120000
nhl_bcgsc_201337003497750000
normal_skin_fibroblast_20245163217222332870
normal_skin_keratinocytes_20243723100574421495638640
normal_skin_melanocytes_2024251029511828586786850141840
npc_nusingapore401315652000
nsclc_ctdx_msk_202230290150931937600
nsclc_mskcc_2015000741730000
nsclc_mskcc_201887850498999539244627470516636
nsclc_pd1_msk_2018105303239647800
nsclc_tcga_broad_201606066552283835683194201536
nsclc_tracerx_2017207824627082097200977814931220
nsclc_unito_201600001186000
ntrk_msk_20191060037945000
odg_msk_20172100023327000
ov_tcga91998281956636318240
ov_tcga_pan_can_atlas_201813102128403523230196381
ov_tcga_pub261988151877636016210
paac_jhu_20143341125431611280
paac_msk_jco_202307002714300
paad_cptac_2021400632300000
paad_icgc3231225958400
paad_qcmg_uq_20163826110522712253749237
paad_tcga002293030912500
paad_tcga_pan_can_atlas_20184153119631091043140
paad_utsw_20151502617703611241120
pact_jhu_201100124410000
paired_bladder_202215173051845271591299100
pan_origimed_2020751453428446963833142821
pancan_mimsi_msk_20241645045769894001224800
pancan_pcawg_202064582185159937581077658191
pancreas_msk_20240252015740800
panet_arcnet_2017010614629293210
panet_jhu_201100001552000
panet_msk_201803049110210
panet_msk_erc_202302016780200
panet_shanghai_20130000780000
past_dkfz_heidelberg_201300122312000
pcnsl_mayo_2015000515505000
pcnsl_msk_20240010314170300
pcpg_tcga0018544202180131950
pcpg_tcga_pan_can_atlas_201805316262901210
pcpg_tcga_pub0151836306310
pdac_msk_20241018783101302155000
pediatric_dkfz_2017504257175362905090
plmeso_msk_2024261521402500
plmeso_nyu_201510015076200
pog570_bcgsc_20204245395069431164504353391328282844961104
pptc_2019004247426111573490
prad_broad_20133808268241580
prad_broad01334569943110
prad_cdk12_mskcc_20203825137762092100
prad_cpcg_2017500261450000
prad_eururol_201720416386501908530
prad_fhcrc101496125231521466229840
prad_mcspc_mskcc_202011912182711500
prad_mich021238434100
prad_msk_20190000463000
prad_msk_mdanderson_2023360150314126788610742675
prad_msk_stopsack_2021312385880925500
prad_mskcc_2017223101514162700
prad_mskcc_cheny1_organoids_201410539695000
prad_mskcc00013163000
prad_organoids_msk_20221642801320041001
prad_p1000429330732118713531241501590
prad_pik3r1_msk_202121018142001342700
prad_su2c_20151122015104762998735021131335523
prad_su2c_20194250231030549388113611036740
prad_tcga1076208386919193576734
prad_tcga_pan_can_atlas_20182374019433803093230
prad_tcga_pub15908743134073610020193
prostate_dkfz_2018490336001519950589734519
prostate_msk_202461571361060026100
prostate_pcbm_swiss_201981088198266146475140
ptad_msk_20242550177028500
rbl_cfdna_msk_20205785154783772902717450520
rbl_mskcc_202012402670400
rectal_msk_2019217602919273500
rectal_msk_20221763919949832680308651130
rms_msk_20230010201000
rms_nih_2014822116161010
rt_target_2018_pub00021190001
sarc_mskcc0000450000
sarc_tcga101751831942119111722266
sarc_tcga_pan_can_atlas_201865972578305910163141
sarc_tcga_pub2066103123651255910354
sarcoma_msk_2022099921776951045310
sarcoma_msk_202314003153300
sarcoma_ucla_2024610044460100
scco_mskcc0000190000
sclc_cancercell_gardner_201718622756132001088016274206608153
sclc_clcgp0155538467801210
sclc_jhu1002079531200
sclc_uc_20249047611315278182063120
sft_sysucc_202324280412230300
skcm_broad_brafresist_201226871457743712277346680
skcm_broad11453435421262047215481208224313412
skcm_broad_dfarber15268123899316020
skcm_dfci_2015630153540770210
skcm_mskcc_20142450159383490600
skcm_tcga220628703215457258482525
skcm_tcga_pan_can_atlas_20181633546035815520400618435
skcm_tcga_pub_201548196162676127808276194254266
skcm_vanderbilt_mskcc_2015700076649000
skcm_yale08680222523641110
soft_tissue_msk_20230300750000
stad_oncosg_201806640752763223277559000341212529
stad_pfizer_uhongkong806301615216574170
stad_tcga00816563191135144349551208106
stad_tcga_pan_can_atlas_2018391785801444238161018863134
stad_tcga_pub81302781511423965222281540
stad_uhongkong130173175564867389130
stad_utokyo379013396555468340460
stes_tcga_pub101187954219859170318481753265
summit_201820920869142000
tet_nci_201400357756010
tgct_tcga35571110913904932638255
tgct_tcga_pan_can_atlas_201828348333701820
thca_tcga536810736819741
thca_tcga_pan_can_atlas_20181813881173001160
thca_tcga_pub363267666915610
thym_tcga1020262792116183259
thym_tcga_pan_can_atlas_201821836104465709390
thyroid_mskcc_20166011147427000
tmb_mskcc_201850849114101845810513100
uccc_nih_2017602416771730
ucec_ancestry_cds_msk_2023541351151494747200
ucec_ccr_cfdna_msk_202210085880000
ucec_cptac_20200060447345677128926394
ucec_msk_2018120022241278300
ucec_msk_20240711151245200
ucec_tcga25208635818321463112278120
ucec_tcga_pan_can_atlas_20182293294877141059066690865177818
ucec_tcga_pub25208635718319662611376120
ucs_jhu_2014603750188002133570
ucs_msk_2024870038031600
ucs_tcga00184910690163633479
ucs_tcga_pan_can_atlas_2018188771028202841
um_qimr_2016110227619000
urcc_mskcc_201600001572000
usarc_msk_2020150032316100
utuc_cornell_baylor_mdacc_2019001541222200
utuc_igbmc_2021303642370410
utuc_msk_201931301214197000
utuc_mskcc_20159300108911000
utuc_pdx_msk_20193810320820400
uvm_tcga00012144122150
uvm_tcga_pan_can_atlas_2018010819230300
vsc_cuk_20183005299625341
wt_target_2018_pub005282051310
Total654792811698123968359561721993559802994211693984525223

HGVSp Category Breakdown

Studyboth_emptydelins_normalizeddup_vs_insfuzzy_fsmaf_emptymaf_nonstandardmatchmismatchno_cds_dataposition_shiftsplice_no_proteinsplice_vs_predictedsplice_vs_syntranscript_model_changevep_empty
acbc_mskcc_2015000200240100010010
acc_201918311196210986031140197350400
acc_tcga15011412601939980768191600394
acc_tcga_pan_can_atlas_20188180058579129672151810160147
acyc_fmi_20140003002500010000
acyc_jhu_2016200100350001110040
acyc_mda_201551024207440110000028
acyc_mgh_20160000401419007000024
acyc_mskcc_2013000800688101000010
acyc_sanger_201300051029300101108
all_phase2_target_2018_pub00034074610210007
all_stjude_2013170013004750062030219
all_stjude_20150000008000000000
all_stjude_20163600220078300141000415
aml_ohsu_201800122890095235462113001
aml_ohsu_2022407466426411299246284005
aml_stjude_202422013111514900041221011
aml_target_2018_pub00031054800100004
ampca_bcm_2016170656226027501352284800559
angs_painter_202529100101291681160550735221120490
angs_project_painter_201860005402356300400000395
appendiceal_msk_20222012301104400643000
asclc_msk_202400070123100100000
bcc_unige_2016200259212336602241991991242911595178106799
bfn_duke_nus_201500070039900130007
biliary_tract_summit_202210040018300400000
bladder_columbia_msk_201811100791293342006440008
bladder_msk_2023378502732262920024136023
blca_bcan_hcrn_20223051039505211003871000
blca_bgi1006413010972604210600125
blca_cornell_20167800053018015011284013301070
blca_dfarber_mskcc_201417512171150158087134851005119
blca_msk_202415120461816351003191762218
blca_msk_tcga_20201045514181153177115799334268602459112873
blca_mskcc_solit_20120001009900010002
blca_mskcc_solit_20147003110113110301002
blca_nmibc_201779004800146730533001
blca_pdx_msk_2025760226810237000201002008
blca_plasmacytoid_mskcc_20161200800428001300011
blca_tcga170315840038550431257231900390
blca_tcga_pan_can_atlas_20186586413295279732134903242249652278021458
blca_tcga_pub_2017290236113501284511402194825002376
blca_tcga_pub121214641038599361257211700382
bm_nsclc_mskcc_202367138664212101986002
bowel_colitis_msk_202280016671822102661003
braf_msk_impact_20241800240374400410000
brain_cptac_2020217004810457882150232790353638
brca_bccrc2006202362007030015
brca_bccrc_xenograft_2014224700040099700317350006377
brca_broad3015340479450124000109
brca_cptac_20208600074122027907004816000
brca_dfci_2020498004470124811625042110358032
brca_dldccc_202214302233177172323202448011012
brca_fuscc_202010040561400100000
brca_hta9_htan_2022132100199009830123115046
brca_igr_20155701285330204782916760001911
brca_jup_msk_202000000010400000000
brca_mapk_hp_msk_2021100220060210641000
brca_mbcproject_2022140002405449793643149028167271424002154
brca_mbcproject_wagle_20170028882023339105681100440
brca_metabric0001300016951106697130014
brca_mskcc_2019000151063540210000
brca_pareja_msk_202020051132362100796001
brca_sanger700209068280122103330306
brca_smc_20182002521567700350152001
brca_tcga21603128712008239880351616020006110
brca_tcga_pan_can_atlas_20189870426044459083108562061236114485877872
brca_tcga_pub201511141009280684081102720556310078
brca_tcga_pub3201319535030179303676019003078
breast_alpelisib_2020000260079930101102
breast_ink4_msk_202162032280770820594223019
breast_msk_20189621764089291106659280024
ccle_broad_2019467448641277396870116187998835639863649036012885
ccle_genentech_20145670001311265326053307193608097
ccrcc_dfci_201910002810035580041544130428
ccrcc_irc_201420027003373008940021
ccrcc_sjuh_20230011249012107500117000012
ccrcc_utokyo_20133593400796053880111310034682
cellline_ccle_broad13801201293910112473627300076512011747364
cellline_nci6020402442003894500831310034838
cervix_msk_20231001301104800421001
cesc_tcga4040113111803875526228190007063
cesc_tcga_pan_can_atlas_201815774201773948865742030311223774351738
cfdna_msk_2019020773037668010000023
chl_sccc_2023150040581246507001819701410
chol_icgc_20177009915624899001454011
chol_jhu_201310023018600180011094
chol_msk_2018610220072710163000
chol_nccs_201300010023800000004
chol_nus_201200050018800200109
chol_tcga440018120573960128700909
chol_tcga_pan_can_atlas_2018896001512436306403127319033
cll_broad_2015302484600110119891000118
cll_broad_2022500014013011939587006117628407
cll_iuopa_2015350101717093590023437103786
cllsll_icgc_20110003101086002001017
coad_caseccc_20151006202645013300035
coad_cptac_2019148031017130070220112922421740601617
coad_silu_2022242072441800101813510602836580171220
coadread_cass_2020139430731445326366428146176308551502057
coadread_dfci_2016140009209027602786351208029174110048437
coadread_genentech8005230357980104710000370
coadread_mskcc0002620725002220004
coadread_mskresistance_2022930047101498363005330315552936
coadread_tcga41004819208183739376365001994
coadread_tcga_pan_can_atlas_20182627712224899622297277247012651010339166521097
coadread_tcga_pub2176047918614348867603774455333478
crc_apc_impact_20201212138354393102167004
crc_dd_20223003740177500200002
crc_eo_202021526043141941000803318017
crc_hta11_htan_20215341201317381188647864328494142302003230
crc_hta8_htan_202400060018000100000
crc_msk_2017194211619161782611632080050
crc_nigerian_202010052131503001010000
crc_orion_202420036921933007201051
crc_sysucc_202235602355717072484346751114912552903183282
cscc_dfarber_201550036026404062018073
cscc_hgsc_bcm_2014261244412816001004153501272365806546
cscc_ucsf_202146914001284467055962305380774000057389
csf_msk_202448604645377700341011003
ctcl_columbia_20150003014244900402001
desm_broad_201567025836026849875150001248
difg_glass_20191098386160721002115489213859729932527619134027894
difg_glass6949861212629997223601032891772742021795864951
difg_msk_202368001421109700502104
dlbc_broad_2012183004011323031442860198
dlbc_tcga11024824016452280226800317
dlbc_tcga_pan_can_atlas_20185420027296896336010697341031
dlbcl_dfci_201800313230200470058320080
dlbcl_duke_20170029900677900480200175
egc_msk_2017220110021983021112004
egc_msk_202352017843719200392721018
egc_msk_tp53_ccr_202200048232049101057010
egc_mskcc_20203007100329710111117004
egc_tmucih_2015305155901348632265200170
egc_trap_ccr_msk_20236436158771914114920332154693386
egc_trap_msk_2020225303077175300021741301195
es_dfarber_broad_20141660272150148373043332086
es_dsrct_msk_20231300140030200211001
es_iocurie_201478011200115400112000785
esca_broad32841110224933251330654821491272
esca_tcga3860137810904936852178354008190
esca_tcga_pan_can_atlas_2018844511226194431034077026991991923179
escc_icgc11001440712002165000107
escc_ucla_2014100022102942008000049
gbc_msk_2018700290077420601000
gbc_mskcc_202214106002156010671001
gbc_shanghai_20142720142019470010301503011
gbm_columbia_2019200115778002005069
gbm_cptac_202100054004635160672241501134
gbm_mayo_pdx_sarkaria_20191549408350208048687852753712683810127482
gbm_tcga490212718021132271336241000635
gbm_tcga_pan_can_atlas_201835711121720940005998502913316113800249
gbm_tcga_pub201314021249112158431582998490103
gbm_tcga_pub00010044000010109
gct_msk_201600020032510102003
gct_msk_2020010200262005410106
gist_msk_2022232102197530040130001
gist_msk_20230228128990065120001
glioma_msk_20186000023250000000000
glioma_mskcc_201959611931081335055117002
hcc_clca_202411567121338232210602659850082061663358522
hcc_inserm_fr_201518100376102722908898700550
hcc_jcopo_msk_2023530031035900420003
hcc_meric_2021202003342024141015991000
hcc_msk_20242264018989627500313912025
hcc_msk_venturaa_20187000005900100000
hcc_mskimpact_2018691051052110241000
hccihch_pku_20195900235831316928033482102113
heme_msk_impact_20222512143039912214006853230127
hgsoc_msk_202100030017500320000
histiocytosis_cobi_msk_201911190332420197286315
hnc_mskcc_201637301600132810121001
hnsc_broad83013709333435300650114
hnsc_jhu00000759400000000
hnsc_mdanderson_20132002680334418116100055
hnsc_tcga3150206821430112590123422188127006161
hnsc_tcga_pan_can_atlas_2018558320421417744810871905624940126590769
hnsc_tcga_pub13228023525795150576026100366298024
ihch_ismms_201590000719800100200
ihch_msk_20211901480215310012104001
ihch_mskcc_2020601190176300651003
ihch_smmu_201440014435465892200606167369
ilc_msk_20231004008600000000
kich_tcga2001135607068141174200291
kich_tcga_pan_can_atlas_20182190016623127560050021014
kich_tcga_pub102200016982081015040
kirc_bgi10000052700100003
kirc_tcga192026438538039694106161395139002326
kirc_tcga_pan_can_atlas_2018194220235892031262390168732131830204
kirc_tcga_pub55405412310278279011873527008646
kirp_tcga1104270170181215503352600336
kirp_tcga_pan_can_atlas_201824501126113026922823301010330122104237
laml_tcga5401863022171454000209
laml_tcga_pan_can_atlas_2018470327012093141844113001134
laml_tcga_pub2601852022100453000196
lcll_broad_20134102030299633351020039
lgg_tcga3004880967384142300122
lgg_tcga_pan_can_atlas_20181598101701091934350440216915102140114
lgg_ucsf_201432013140148720824181200189
lgggbm_tcga_pub002139150304502204513130030
lgsoc_mapk_msk_202200020019500230000
liad_inserm_fr_20144011823112100702703
lihc_amc_prv18001540026866140519100566
lihc_riken0000005300000000
lihc_tcga400138539052199682121195100852
lihc_tcga_pan_can_atlas_201851762022421349214873602215653323222286
luad_broad82531229721176635380441064123359241
luad_cas_2020896098916917531473801285152768650
luad_cptac_20200001450123798203237290710020466
luad_msk_npjpo_202110803841034550020770119
luad_mskcc_2015900070882602128000185
luad_mskcc_2020169045504650170181380033
luad_mskcc_2023_met_organotropism338598351951613677936271703161076738491049
luad_mskimpact_202100012011000001240001
luad_oncosg_2020360200114118266504051804215677622202173
luad_tcga855325306407006331501085333101468
luad_tcga_pan_can_atlas_20189819516837051383821503801634339521121211215
luad_tcga_pub855325316407008731491085333101469
luad_tsp41061098210832009
lung_msk_20171913060706985330311315005
lung_msk_mind_2020118020122875501473005
lung_msk_pdx1640321438060024163611
lung_nci_20228900514223683001443113015
lung_pdx_msk_2021000175176900321000
lung_smc_201611000099396000200002
lusc_cptac_20219530317415038234164625102518212040
lusc_tcga57027356063988104010717100954
lusc_tcga_pan_can_atlas_2018870911467608120141744860943607623111441148
lusc_tcga_pub175226875072057104185141820577
lymphoma_cellline_msk_2020200310109860701001
makeanimpact_ccr_202300040024700300000
mbc_msk_202130042748401222003
mbl_broad_2012602131016692110210407
mbl_dkfz_201751003110492033001523006
mbl_icgc100220104300200009
mbl_pcgp100410514002100035
mbl_sickkids_201626002313045431071340158
mbn_mdacc_201319180167724014965306544581028272
mbn_msk_202444198255548400273419082
mcl_idibips_20130000211611007003019
mds_iwg_2022219412235899141147067264170
mds_mskcc_2020212151371110138543300232842416151105
mds_tokyo_201100050025600000000
mel_dfci_20192171051861932006129832001961302911141129
mel_mskimpact_20206271904916918657602723215019
mel_tsam_liang_20171276223653010985146402310020584
mel_ucla_201614900011568025233028301301114
meso_tcga7601211004432342220001600
meso_tcga_pan_can_atlas_201823401161938432760471119117
metastatic_solid_tumors_mich_20172492222812147081800634010532013061002345
mixed_allen_20185450317364941401600210122429413321185
mixed_cfdna_msk_2020470244111680001363006
mixed_impact_subset_202261070341600500003
mixed_kunga_msk_202230042027814022120020
mixed_msk_tcga_2021400156820220000013082
mixed_pipseq_201737531912933045508338468280005984
mm_broad106501701070504154000295
mng_utoronto_202172001540143730021000
mnm_washu_2016220030104920013010251
mpcproject_broad_202165300147844972119810556161840540
mpn_cimr_2013700195013390040090113
mpnst_mskcc1827009118228350013122055
mrt_bcgsc_201629002203020010000515
msk_access_2021967017714696400761015062
msk_ch_20203410297413106571044147022
msk_ch_20236257602145290186911505267442590115
msk_ch_ped_20210000004000000000
msk_chord_202443315595366841981998468401095695324441210
msk_ctdna_vte_20241611112651559980001062318014
msk_impact_20171360661114923507449612302792041440053
msk_impact_50k_2026693033731998136346645583840241514967421480399
msk_met_2021259917112468811417122014214901040692371548217
msk_spectrum_tme_202200020526300830106
mtnn_msk_2022100233360900420001
nbl_amc_201200020055900300004
nbl_broad_201313065604903012193030060
nbl_target_2018_pub146000002710002000616
nbl_ucologne_2015200420876019010025
nccrcc_genentech_20141200801045690223600015
nepc_wcm_201611000150722300131051049
nhl_bcgsc_2011200020671009000032
nhl_bcgsc_201310800018735892304150030013
normal_skin_fibroblast_20241992100275362114024158089
normal_skin_keratinocytes_202430438901422055091614507311251060634
normal_skin_melanocytes_2024156157309263256053282903277242423901690
npc_nusingapore4002301548004000014
nsclc_ctdx_msk_2022301418002793390013044370130
nsclc_mskcc_20152000504086014300079
nsclc_mskcc_201896990013683025781111475283156025028
nsclc_pd1_msk_2018124016102444701375008
nsclc_tcga_broad_20163632251352193038826639203438107147602257
nsclc_tracerx_20173818710397370281231135265792776824678061582
nsclc_unito_201600000012400000000
ntrk_msk_2019100070041610210003
odg_msk_2017210060025210100000
ov_tcga151207922019567874429700425
ov_tcga_pan_can_atlas_201831383084520033584492901711480252645226
ov_tcga_pub32140769018541574528700656
paac_jhu_2014110063025201041000199
paac_msk_jco_202300040027500240000
paad_cptac_202190088604411142642252200154
paad_icgc611129024930113200089
paad_qcmg_uq_201642321376602090245633613002263
paad_tcga2002527030003014349200241
paad_tcga_pan_can_atlas_20181586008592188527384022401641701109
paad_utsw_2015210382110678432225800318
pact_jhu_2011000020408000100033
paired_bladder_202215431726401919267447011484310935
pan_origimed_2020829231643406533185708004131368144694888
pancan_mimsi_msk_2024173133249361938696500368148711659
pancan_pcawg_2020575205121925133140873706693083950818324873875
pancreas_msk_202401052011534001164000
panet_arcnet_20171601141300261002913000302
panet_jhu_201100000015300000004
panet_msk_201800074988700520205
panet_msk_erc_202300011067000440102
panet_shanghai_20130000007800000000
past_dkfz_heidelberg_201320110023000000002
pcnsl_mayo_20152007301520226000018
pcnsl_msk_202400024301393001201000
pcpg_tcga41003013037301912216100789
pcpg_tcga_pan_can_atlas_201811400971512349017119017
pcpg_tcga_pub3101150340002911120219
pdac_msk_20241141305361015000494322063
pediatric_dkfz_20171001200526131680651997175128234
plmeso_msk_2024300030826400010001
plmeso_nyu_2015100110497013100012
pog570_bcgsc_202044801420150156335792397548809422433718524103997
pptc_20191004253370420901120178151330266
prad_broad_201310002720261742177019050
prad_broad421640562644381235037
prad_cdk12_mskcc_20203501311038633049279006
prad_cpcg_20175000206061027200073
prad_eururol_2017587013301741315000048459
prad_fhcrc32460140341102819903112419011201153
prad_mcspc_mskcc_202011041201788001784013
prad_mich200120037850214000038
prad_msk_20190003004500100000
prad_msk_mdanderson_202375943006739821915305071922795902960451
prad_msk_stopsack_202144024845861200763411052
prad_mskcc_201723062001617101374000
prad_mskcc_cheny1_organoids_20141400132023620697002017
prad_mskcc000010304000002013
prad_organoids_msk_202226101265114130241023608604
prad_p1000121416151772108888074021179522740641218
prad_pik3r1_msk_202123013612422500543113033
prad_su2c_2015154501147530223131774832220014401
prad_su2c_2019607015231060508833529310581278011852
prad_tcga15807242510367194711116415003334
prad_tcga_pan_can_atlas_2018136020156100173730405012801152010123
prad_tcga_pub19300509011932052132001830
prostate_dkfz_20185055070004101194908334301070493802
prostate_msk_20241051310591035300854514152
prostate_pcbm_swiss_2019850006872025886958125255000
ptad_msk_202420042084700510000
rbl_cfdna_msk_202064005011801051517719203221314314977
rbl_mskcc_202010070225900900000
rectal_msk_201920098003096201434003
rectal_msk_202256772153512973015933310934382310
rms_msk_20230000002200000000
rms_nih_20141800610528002000086
rt_target_2018_pub200000100000000020
sarc_mskcc0000004300000200
sarc_tcga1470067370167014078303003309
sarc_tcga_pan_can_atlas_20185043205412929182297809511821561123
sarc_tcga_pub8200522301058930392116702000
sarcoma_msk_20221646110216145993711012153141892
sarcoma_msk_202310050031500230000
sarcoma_ucla_20247005426392001211127
scco_mskcc0002001700000000
sclc_cancercell_gardner_201742270281385102428166085638858184078167
sclc_clcgp0601030854200153700137
sclc_jhu600115078600412100078
sclc_uc_20242282803726686926915115829151690171
sft_sysucc_202326104241229001600000
skcm_broad_brafresist_20124610329557046176382011233720819
skcm_broad1337080335135087802873151641830137513
skcm_broad_dfarber32303160912416205100107
skcm_dfci_20157900014379553085036552403022
skcm_mskcc_201411200013674337437027421309024
skcm_tcga46901024842303097474118352310090012405
skcm_tcga_pan_can_atlas_2018232773021815933109149255703238699716395012869
skcm_tcga_pub_201581643462294260278968401773879674308685
skcm_vanderbilt_mskcc_201570030081100000001
skcm_yale110402102593202210000151
soft_tissue_msk_20230001007700000000
stad_oncosg_201838227023412378740532100104133720803200
stad_pfizer_uhongkong370041514017221837241120078
stad_tcga3640143082199019051968032376280014544
stad_tcga_pan_can_atlas_20181117014239867013060212589081418895112902782
stad_tcga_pub618255398014501723432584148002368
stad_uhongkong230087045540015442802393
stad_utokyo46600310024121010211503696
stes_tcga_pub696012309425902164671071354101280020779
summit_201820001700980190501000
tet_nci_20141001040729003403036
tgct_tcga1132053310120343344141002374
tgct_tcga_pan_can_atlas_20182730091933727370380812012
thca_tcga700258071802182100224
thca_tcga_pan_can_atlas_20185170028478431024605195261183
thca_tcga_pub36002270652721421370133
thym_tcga22004150250020101000483
thym_tcga_pan_can_atlas_2018921002517442346003131220015
thyroid_mskcc_2016600031049540100000
tmb_mskcc_201851019223980195762505642280058
uccc_nih_201710001001607002100079
ucec_ancestry_cds_msk_202356711010341397300825230019
ucec_ccr_cfdna_msk_2022100204056900102000
ucec_cptac_20200016960049441402112678600583
ucec_msk_20181108320244140634000
ucec_msk_20240006810149410211000
ucec_tcga40405242206017576036733177221007725
ucec_tcga_pan_can_atlas_20181443735136012871713807044060335104729547456072728
ucec_tcga_pub40305242206017574236683087121007724
ucs_jhu_201416001340017934242430001112
ucs_msk_202480070023733001010001
ucs_tcga37015812099771319100001221
ucs_tcga_pan_can_atlas_2018565004234624903403160060031
um_qimr_201630010028900022002
urcc_mskcc_201600040015500000000
usarc_msk_202010050033710001001
utuc_cornell_baylor_mdacc_201900011504088006111802
utuc_igbmc_20211400125514135019402201
utuc_msk_2019310050102168601020005
utuc_mskcc_20159002300107400110004
utuc_pdx_msk_2019380071301984002910002
uvm_tcga00017102068008510074
uvm_tcga_pan_can_atlas_20185500105971749002111104
vsc_cuk_201860012029482080020050
wt_target_2018_pub1003108401005020020
Total7554137410269411956753529682024714393516380024735772471383611556473306271473005

Cancer Gene Mismatches

1210 cancer genes have 100% match. Mismatches in 1137 gene(s):

GeneVariantsConseq MismatchesHGVSp MismatchesHGVSc Mismatches
TP5312753324172820
DNMT3A179840771849
ARID1A306783261429
APC453760111388
TET2149590141208
PPM1D5489021180
LRP1B313791261079
PTEN22309211082
GATA37885130946
ASXL11099205801
EGFR225032126658
ROBO11014902777
MAGI211770011710
NRG1928003714
CDKN2A158212841635
ERBB419188135667
NF120914115661
PTPRT2370819665
ATRX1567104651
ARID1B12491552573
KMT2D29220313587
ZFHX318595014579
PIK3R19973044492
RNF43934103520
GPHN376906490
KMT2C23113014473
RB13316219471
CREBBP15374038440
ATM19812016450
RAD51B457803462
NEGR1802831458
BRAF1515000458
JAK1771902452
NOTCH11465707442
DPYD72161011426
ERBB299505179262
MAP3K18751013427
PBRM11036825423
ACVR2A234903410
PCLO14340025385
LPP404500405
CAMTA16990010393
PTPRK502403399
SMYD3463301401
BRCA21386504393
SPEN13978014383
KDM6A1143116389
MSH35303017371
CDH1915309378
AFF35341016366
CUX15410211369
CIC900817370
SETD21312702375
UBR5447903372
NCOR110822011359
RPL2291100365
FGF14419400359
INPP4B795002357
FAF1274626350
RUNX11044302350
PRKDC6356013333
ARID21166912333
ALK1346537322
PTCH18533010316
STAG1343701325
FAT12102307316
ERC1316604308
FHIT717000312
RYBP1540227083
EBF1407109298
KDM4C284103301
RELN101593529231
EP3001202606285
MGA1247607283
CTCF651002287
NCOA2334203286
JARID2331601285
KIT8629069217
TCF12249201284
B2M394851276
EPHA31281805277
EXT1276703279
BACH2318126272
SNX29361403274
PDS5B249103273
SLIT36688012264
ARHGAP26277407268
KSR25158010263
FBXW71290512269
NPM1253801271
PIK3CA38160109250
GRIN2A16265011256
FIP1L1304300265
PRKD15892011250
MLLT10223901255
CDK12766807247
AR9019129222
ATR1023616244
NTRK2617205246
TCF7L2732703248
ZNF5214338117233
PTPRD3005413246
NSD1991207242
WRN238402247
ANKRD111063406242
SOX9635235239
PIK3C2G1056502243
NCOA3543202242
DDX10205405238
KAT6B317504239
AKT3446803238
VHL405781232
SND1325803232
IGF1R7197015219
KDM5A698004229
NOTCH2975605227
PREX212983012219
SLIT26826011220
FOXP1725401229
ARID5B575706223
ASXL2641403222
GNAQ304000223
EPHA512846113207
GPC3249001218
BRIP15357010206
GSK3B292501215
AXIN2529303212
STAG2925812212
CARD11986309205
KMT2A12192013201
PHLPP1225601213
RUNX2259002209
SMAD41302133204
FOXA1643893197
EPHB11115600208
SETBP1509909199
ABL1552406201
CACNA1D433508198
MAML2286201204
RASA1600401203
ERG484102199
KMT2B1140707194
NCOR2505817193
ZBTB204186160184
FANCC275301198
ROS112948017181
STK11841908190
QKI205901196
HDAC4349602194
FLT1876003190
ZMYM2199101190
PRKCB429515184
ETV6429605184
INPPL1577707182
ESR1828740184
SMARCA41408704183
DIS3L2242502184
LARP4B173602184
MITF355252179
RSPO2214001185
ZNF292328401185
MLLT3231700185
MSI2280200185
NTRK310859010175
RPTOR730604181
FNBP1164302181
MSH6671407176
PTPN14273207176
FLT3747909173
JAZF1206404176
BRCA1759901178
TGFBR2578201178
ABCB1404308170
CDH4744807171
REV3L350105173
ATXN7191206171
CHEK2410006171
FLT4851205172
KRAS4341731172
BCOR1036002173
PTPN13347602173
GRM3489306166
IRS1560106166
TBX3700803169
EP4004979031140
MBD6144101170
MAPKAP1242202168
NFIB199103167
PBX1273302168
SMARCA2340807163
NBN363501167
PTPRS1046108160
EML4173201166
LRRK2516809158
TBL1XR1200901165
TP63710232161
MAP4K4246803162
CTNNA1248102162
TUSC3291401163
AFF1236403160
MECOM611406157
RUNX1T14174010153
TET18585011152
CDH2339206156
LRP6247903159
CDK6233200161
KDM5D41115515
NUP214261404157
POLQ342104157
NOTCH31188439148
CBLB242102157
PMS1338402157
STAT5B314503156
TP53BP1595107151
ZFP36L2119602156
ARHGEF12239404153
CHD2320704153
PTPRO330504152
ARID4B208901154
TLE4223903152
TRRAP5812014141
ABL2258702152
BCORL1322503150
ZNRF3255501151
EPS15174700151
KAT6A330605146
BMPR1A255700150
MAP2K4440208142
CASP8495405144
FAT411667033116
PIK3CB487012146
MYH9373106142
RAP1GDS1153200148
PAG1130102145
HIP1243601145
GAS7247405140
SOS1395502143
AXIN1489804140
MET809205139
PIK3R3241700144
NCOA1270703140
SEC31A176602141
FYN340001141
ATXN2201103137
FGF12434302138
KIAA15493636012128
WWTR1203301139
EZH2472102137
ACVR1240602136
GLI15957011127
ANKRD26219415131
BCL9228104133
POLE1031005132
CUL3427904131
HLA-A298100135
AXL514706128
RICTOR629201133
BAP1589104129
CHN1165600133
FUBP1322812130
KDM2B242507125
KLF383702130
NUP98253703129
PICALM132901131
RAD50489703128
TRIM33199902129
BLM506802128
CDK8266101129
PIK3C3371205123
CLIP1215204123
MAPK1177600127
MYH114085010117
RBM10879004123
BARD1358004122
CBL495406120
ELF3356334119
ASXL3515006119
CDC73353403122
DROSHA488101124
TGFBR1369212122
BCL11A276102121
CHD4322308115
KTN1187105118
LYN278901121
MEN1393203119
MTOR1031119112
NF2426812118
NIN288605116
POLD15782011110
ARID4A177001119
TSC1618004116
CPS14191114104
PAX5424223114
BCL9L203803115
CBFB234302116
SMO4308015103
ARHGEF28265803113
MSH2495352109
MYBL1114201115
PLK23012010106
TAF1322306110
ADARB2463003112
MEF2C194601114
RABEP1131103112
FOXO3141000114
JAK2601806108
CDKN1B230102111
HLA-B278141108
PTPRC364307106
CDKN1A258901111
PAK1231403109
PLCG2691103109
PRKCI244501111
PUM1192202110
ETV1385101110
MLH1396202109
MYCN919505106
CDH11357401199
FANCM299101109
INSR554903107
NT5C298604105
CSF3R364805103
DICER171730999
ABI1116100107
FANCL98702105
GAB2169604103
IL7R470500107
MAP2K1315402105
PSIP1105300107
RAD21304402104
HNF1A421501104
SGK1235902103
XPO1397405100
HOOK3144601103
TRIM24184101103
GTF2I114701102
LIFR268803100
SNCAIP278603100
SUFU246800103
AGK105600102
BRD4607802100
TLE1170001101
USP8172402100
ATG587100101
EPHA792560695
SMAD3386114285
SPRED1203100101
CTNNB1110311594
MN119930595
PCM121400297
PPFIBP118660198
AGO234300098
CNTRL24570296
COL5A1536501187
FBXO1114220197
FOXO132330296
PDE4DIP756311879
BCL11B24230394
KDR91661591
RNF213581701483
BCL266770294
CCAR114650294
PALB243780492
ERCC622110392
MDM220280193
PGR54770886
SZT2346501480
TOP131120391
ARAF32161290
ARHGAP3530150588
CLTC19620588
FRS211490291
IQGAP1210501083
LEF112460192
SH2B329560687
STIL16140291
TRAF314820291
LATS251910686
ANK149300883
CSDE132390091
DNMT3B45970190
SHOC215700388
ZBTB1621021783
DAZAP19490090
DNMT155900387
MOB3B11220189
MYO5A27260981
SETD1B19630387
STAT418280486
TRIP1121630486
INPP4A43540287
MED12993401376
MERTK20600584
WWP116380287
MLH313820187
TEK46180187
BUB1B12880285
FLCN31300681
TSHR48060285
ECT2L15260482
MAP3K1347720878
TLL221900878
ZRSR2200401175
BAX6440184
NUP9333700382
PTPN210490085
SMG134570580
TSC283240778
INPP5D24050579
PTPN1138580282
YAP121230084
ZMYM319490579
CREB3L215880182
FANCA58551577
GPS217030380
MIB115880182
CRTC113440181
LGR521220676
PPARG25060181
SALL419310676
SP14023220874
TET325110181
ALDH29070180
FGFR264830180
IKBKB14481278
SESN114220081
STAT335020576
STRN14170378
TPR30480180
BCR27800773
ESCO112140080
FANCD225300377
FANCI16440278
GNA1211200179
HIRA15180278
IKZF218290278
EXT215060178
HMGA211510079
MALT123870574
TEC13780277
GNAS57964767
MGAM606621264
NOTCH497323273
PAK323430078
SS189380276
CHEK118890176
NUMA124540572
POT121050275
SUZ1227061472
CREB17040175
EPAS128160373
GAB115360076
PRCC8380076
RRAS214620076
SETDB29180175
DDR251416564
IRS259470174
PIK3CD41450273
IDH169051172
KDM5C64061271
RHOA28870074
SPOP55440173
SYK33350371
HDAC29230073
LRP5264911260
NFE2L247560172
PIK3C2B27320865
RARA27440469
TCEA17240073
CASR29501863
IFNGR118060171
MAP3K712510369
AGO112950467
ARNT12850467
E2F320520071
PARP136730566
PRDM1641490665
AMER173031366
ERF26730169
ETS116610070
LATS150000070
STAT210320367
TNFAIP332900466
CAD26970465
CCDC610410168
CYLD31660168
MKI6740480861
SMC314820168
ACSL311440464
DNM219870365
REL22220167
SETD310710266
SLX452990662
WT146420167
AFF416650067
CRTC311430265
AIM212030264
CALR15880363
CYP19A116370660
PTPN18610165
TCF334070165
TFE39530066
YY17710363
HGF72600758
RECQL19790263
SMAD237855357
ALB19311360
CEBPA18571162
DOT1L69850856
FANCE8010163
IKZF316280064
IL6ST12190262
RNASEH2B5390064
CD3622700162
RSPO39860162
SESN316790063
ATF16210260
NOD1139301052
RAD5216050062
SLC1A214730062
CREM11490259
DIS335980160
EIF4E9980061
FGF17150160
NFATC225380457
SETDB123160358
VAV120590160
BCL2L110100060
IDH231140357
INTS611140060
ITPKB18030258
TOP2A17820159
PDCD1120560455
SMARCB127400059
TAF1510420158
BCL666220058
CCND316790256
FGFR367730355
IRS420120256
PMS231750355
SAMHD112170256
AGGF19550156
CIITA21720849
LRIG315130156
RAD51C16631254
HIF1A11630056
MDC162591055
MEF2B22090056
PHLPP216830155
SETD1A23800551
CD588190154
HSP90AA114000154
RAF129820154
TFG7140055
ATP1A111831251
EIF3E18010054
EZH121060153
FOLH119390252
KEAP189020054
PPP2R2A8580054
PTK717680450
ZFP36L112340054
DKK228000647
ELP211470152
ERBB385511448
MYO18A26280548
RET66681547
SAMD9L27090548
TFRC10470251
TYK219770350
ERRFI120200052
ETNK110121051
GMPS10930349
JUN17380052
KIF5B11260151
ONECUT212450745
PRPF823460448
ARID3B9380348
BACH114620051
DEK6790051
ELL210850150
RPS6KB17570249
VAV221890150
ATIC9960050
CARM120123245
CDC428120050
CSF1R45940545
PTPRB42860545
RHEB9490050
SHQ120650050
SRP728710149
STK1914210050
U2AF29250149
YWHAE6340248
ABCC322870544
CLTCL121590445
DCUN1D112140247
DDX67900049
ECSIT6550049
OGT13710247
SF3B192380445
SF3B210810148
BIRC321150147
BRD313690147
FBXO319210246
GNB110760147
ITK19780642
LCP112050642
MTAP7820048
PDGFRA80800345
PLAG113010345
POLH7750444
YES122220147
ZNF33113490246
FBXW26560146
IKZF160830344
MYB12950344
NADK10820146
NKX2-125820146
SMARCA115640146
TNFRSF11A10390542
XPC9280245
GATA411090046
MAL26840145
MST117920145
RAD54L23560145
RANBP234560739
BRSK114880738
DDX414110342
ETV512120144
GNA1313760144
MAP3K613920837
PDGFRB54220639
PML19420045
PPP6C16680045
PRDM139050639
RPS6KA434860243
JAK353320539
PIK3CG870301232
RECQL444480341
RTEL127270242
SESN215970143
SETD79140143
SRSF229480044
TLE312990044
USP6228701331
AKT223260241
CHIC26100142
CTLA412730142
ERCC543220043
FGFR142250241
HSP90AB110250043
IRF211780043
MDM418790241
MLLT112140439
PHF18830142
PPP4R211530142
SFRP18700043
TMPRSS228350241
ACVR1B15310141
CCT6B9930240
EZR9660438
GEN110310240
GOPC7780240
INHBA40910240
PAX317360240
RHOH6860042
BTK34992435
FGF510530140
FGF96490140
HDAC711650437
MST1R44700635
NACA21130041
PRRX113040239
ADHFE17963433
ALDH1A39150238
ERCC432180337
EWSR112510238
FGF25410040
FLYWCH19720436
IGF119060436
L1TD112310832
PPP1CB7340139
A1CF19230336
HNF1B10670336
MYC44542235
NTRK151570732
SMARCE17450039
STAT113010039
TRAF728520138
ALOX12B27020236
CNOT313070137
DDX3X16151235
EPCAM11880137
KLF510530137
PDK18080038
RIOK26670038
SETD519680335
STAT613970137
TAP221780335
AJUBA6711135
ASMTL11620235
ATRIP7660037
BAALC7740136
CCND120890037
DHX1511550235
ELN16570037
HDAC17970037
HOXA311290037
IFNAR16710235
MCL116400235
RPN17880136
SAMD926550235
TIPARP10210037
UPF133340433
ADAR16740333
FGFR442140531
MAX18412034
NONO8090135
PPP2R1A46550234
RXRA27950234
STAT5A22300036
USP17300135
VEGFB3720135
WIF111200036
DUSP2218440134
EIF4A219410134
ESCO26980332
FLI117540332
MSI114660035
MSN14550134
PC18360233
RAC117241133
RBM1511180332
RRAGC10320035
TTL6470233
CTR915250133
DCTN115740529
FGF1012060133
GATA69470034
KAT79570133
NUF217340133
PHF612911033
RAD178330133
RAD51D11560133
U2AF135510034
XPA4670034
XRCC212980133
ALDH1L211950132
ASCL148001518
BCL1011840132
BCL7A8740132
CCND219970231
DDX57970132
EGFL79510132
EGR19620231
ERCC326470132
MLF16840132
PSMB24190132
TERT242765325
TRAF221290033
CCNB321080626
CRKL9620032
ELL10990230
HNRNPA2B17830230
MLLT612130428
PASK20680131
PGBD515710032
PIK3R235020230
RPS6KB217870230
COL1A127620526
FZR18640427
KLF421440031
POLG14060625
ZNF21717290229
DDR115990129
ELK46020030
GTSE110390228
MYOD121330030
NDRG110360030
RIT114071128
SDHA32560030
SDHC8730129
WDR9020550327
ACSL614140227
BCL2L1115050029
DNAJB112245123
FES9780722
GABRA628381424
HLF8270227
IL21R15000326
KLHL618661325
PDCD1LG28490128
CAV16030028
CD79A14290028
DDB26540127
GOLGA510080226
IKBKE28880424
SMC1A15070226
TRAF57770226
XRCC18580127
CUL4A8770126
EIF1AX133916011
EPHB415250126
FURIN10350522
IRF432070423
MUTYH23480027
NCOA47272124
NFKB29450324
PAX715360027
PNRC111400126
UBTF11170225
ZNF75011160324
ACTB10940422
ALOX515100620
AURKA16600125
BRD212930224
CBLC7900224
ELF410031124
FANCB9580125
FSTL17720224
KDSR4950026
PDCD123520026
PDPK110570026
RPL55940026
SPRTN7030026
XIAP19090125
ZNF3849470125
APCDD19080124
FGF76310223
GATA229220223
LZTR120910223
P2RY813708017
POU2F212780025
SETD46150124
SLC34A214340619
SOX1740050520
TPM45060025
ARID3A9180321
CCNB1IP14530024
CCNE116940123
CD2215430519
CTC112180321
FUS10330420
IGF216430024
MS4A19380420
MTHFD24610024
NAB26420222
PATZ19060123
SDHB11150024
SEPTIN64790024
TLE212360420
TPMT3800024
XBP14810123
ATP6V1B27360122
HEY13960122
MEF2D9520221
NRAS72910023
OMD4330122
REST15310320
BBC39332020
FGF68320517
HSD17B28160022
INHA16140121
MBD46160022
NFKBIE6220220
PRDM1427230319
TMEM30A6860022
YY1AP111180319
ZBTB7A9560220
BCL37001020
BTLA5351119
CD286250021
CMTR28290318
CRBN6560021
FH20720021
KBTBD47600120
LASP16810021
LCK10980219
PAFAH1B24200021
SRC24540120
CDKN2C10760020
CENPA6710020
COL2A123810119
DAXX38610020
EGR213110119
ERCC240870317
GREM19890119
KNSTRN13143116
RELA8710218
SQSTM16541118
TRIM276600020
CREB3L19600118
FGF238560613
KEL22610415
MKNK17040316
PRKACA7440118
SH2D1A9130019
TPM37020118
TRIP137600415
ATP2B322451413
CD744841116
CSF18370216
CYP17A16980414
EED17950315
EPOR5170018
FOXL219120216
GATA120140216
HTATIP25030018
MAGED112870018
MAP2K219672115
NTHL17431116
PDGFB7200315
PER115250315
RAD519860018
SMARCD118100216
TNFRSF1417430018
IRF812550512
LTK9740116
MAF8730116
RALGDS13810215
SFPQ8190215
SS18L17240215
TAP118570116
TONSL13570413
ARID5A7200412
ASPSCR110210313
BIRC54610214
CD198480115
CDK412140016
DUSP94830016
FAS8430115
ICOSLG15060115
NFKBIA16081015
PARP27320115
PRF19650313
SCG54800016
SDHAF26150016
ALOX15B8600411
CDX25120114
FGF411810015
HLA-C8900015
LZTS111220213
NR4A312960114
PRKAR1A17320015
PRSS114280312
SOX107850015
TFEB9080312
CLP15250410
CTDNEP1296905
DKK35900014
DTX118560113
FCRL41422086
FOXN48130113
LMNA11340113
NCSTN9280212
PLCG117160212
POU3F27820212
SERPINB312890311
SH3GL17311013
STK4017390113
ZNF244750014
AKT144220112
CD27616060112
ETAA111390013
GRB7945049
HOXA94970013
HOXD13549049
MPL2783058
MTHFR9060211
PIM132960112
PTK67240211
PTPN68080310
SLC45A38720112
SOX218370013
VTCN11421139
YPEL53170013
BRD99740012
CDKN2B7160012
CHTF82601011
CKS1B2100012
CXCR416140210
ETV46870111
HRAS23670012
LMO111000012
MAD2L23610012
MAPK314480210
NUTM11534075
PCSK79760012
PHOX2B20200012
SDHD7090012
SET4770012
TMEM1277700012
WEE17590111
ACTG18690011
ARID3C5690011
BCL2L2294209
FOXO46771010
PHF196520110
PRSS84220011
SETD64390011
SFRP412220110
TAL17360011
TRIB36780110
VEGFA1347029
APLNR1058019
BTG110070010
CBFA2T31571019
CD2748780010
CNBP3600010
DUSP411830010
GID44750010
GNA111930019
HOXD114440010
KLF6585019
KLK26300010
MTCP14030010
NQO1368019
SFRP2580019
SLFN111715055
SOCS12087019
SOCS3364019
UBE2A3880010
APEX1416009
AURKB1247207
CANT1697045
EIF2B1372018
PARP3683234
PIGA523018
POU2AF1813117
SBDS381018
SRSF3427018
TNFSF13126009
ACKR3715008
ATMIN755008
BTG2653017
FANCF518017
GSTO1275026
ID3672008
ING1869026
MLLT11207008
POU3F4910017
SERPINB41204017
SSX1511017
ZNF703554017
APOBEC3B521025
FGF191129007
FGF31957016
HMGA1241007
HOXB131369016
HOXC13542016
HSD3B1805016
MNX1462007
TFPT405007
UBA1977016
AKT1S1353006
ARFRP1353015
CRLF21792006
CYSLTR21387015
DDX411038006
HFE518015
HOXA11503015
LMO2511015
MDS2426015
MPEG11265033
MYCL1208006
MYD881999114
PCBP1600033
RASGEF1A973033
SDC4442006
SOCS2395006
UCHL1355024
AIP413014
BABAM1944005
CD70562014
CD79B1522005
DLL3838005
DUSP2600014
NFE2674014
NKX3-11110023
POU5F1328005
PTP4A1791005
SIX1582014
TCL1A449005
TCL1B389005
TLX1415032
AURKC741013
CHCHD7224013
FANCG700004
FGF8358004
FOXF1712013
IL10929031
KCNJ5983013
LYL1293004
MUC1784013
PAX81094013
PMAIP1294004
RAB35894013
RAC2887004
RNASEH2A415004
S1PR2529013
TACSTD2370004
TYMS402004
TYRO31186004
ATP6AP1556003
DDIT3257012
DKK4330003
ERCC1674003
HERPUD1483003
IRF1539003
MAFB486003
NUTM2A229012
RPL10407003
WAS718102
AAMP422002
ADGRA222002
ADGRG488011
APH1A361002
EXOSC6137011
FOLR1406002
GADD45B227002
IL3342002
RRAS760002
SERP2195002
CDKN1C210001
FCGR2B554001
HOXA13485001
HOXC11503001
ID1345001
IL2327001
LTB439001
MAP3K2111001
OLIG2442001
PAK541001
RMI2290001
SSX491001
TLX3560001

Performance

StudyVariantsSequentialSeq v/sParallelPar v/sSpeedup
acbc_mskcc_201525410ms256448ms321351.25x
acc_201910867605ms17973311ms349041.94x
acc_tcga20166949ms21258465ms433972.04x
acc_tcga_pan_can_atlas_201811660523ms22283299ms390441.75x
acyc_fmi_2014291ms272831ms420531.54x
acyc_jhu_201639630ms1320410ms397303.01x
acyc_mda_201581545ms1820518ms440722.42x
acyc_mgh_2016145477ms1895135ms412982.18x
acyc_mskcc_201370832ms2208521ms330701.50x
acyc_sanger_201331014ms218639ms331811.52x
all_phase2_target_2018_pub76435ms2177819ms406531.87x
all_stjude_201373579ms929632ms232162.50x
all_stjude_2015807ms118906ms129261.09x
all_stjude_2016127163ms2020326ms494362.45x
aml_ohsu_20189910406ms24435158ms626282.56x
aml_ohsu_202211967453ms26427292ms410491.55x
aml_stjude_2024169861ms2763849ms349531.26x
aml_target_2018_pub55718ms3012014ms401621.33x
ampca_bcm_2016287481.401s20518634ms453452.21x
angs_painter_202518814833ms22581422ms445901.97x
angs_project_painter_201824058827ms29106393ms611562.10x
appendiceal_msk_2022108464ms1691627ms397822.35x
asclc_msk_20242408ms298124ms644312.16x
bcc_unige_201623445310.121s231665.024s466652.01x
bfn_duke_nus_201541727ms1533610ms400782.61x
biliary_tract_summit_20221928ms243529ms224190.92x
bladder_columbia_msk_20183629183ms19816112ms323471.63x
bladder_msk_20237000246ms28416178ms392181.38x
blca_bcan_hcrn_20225607307ms18244208ms268961.47x
blca_bgi11239597ms18819247ms455822.42x
blca_cornell_201619392766ms25326442ms438801.73x
blca_dfarber_mskcc_2014213651.121s19059416ms513032.69x
blca_msk_20243819132ms28940105ms363361.26x
blca_msk_tcga_20201338825.28s253582.879s465001.83x
blca_mskcc_solit_20121037ms146146ms171631.17x
blca_mskcc_solit_2014117776ms1558026ms447202.87x
blca_nmibc_2017160972ms2245931ms515712.30x
blca_pdx_msk_20252550108ms2371953ms480082.02x
blca_plasmacytoid_mskcc_201646321ms2258112ms401131.78x
blca_tcga393121.679s23415995ms395141.69x
blca_tcga_pan_can_atlas_20181547026.738s229613.838s403101.76x
blca_tcga_pub_20171316606.819s193094.453s295631.53x
blca_tcga_pub393261.324s29708773ms509061.71x
bm_nsclc_mskcc_20234312202ms2132691ms476112.23x
bowel_colitis_msk_2022189678ms2430650ms379171.56x
braf_msk_impact_202479430ms2621727ms290171.11x
brain_cptac_20209951416ms23903257ms387041.62x
brca_bccrc2397110ms2178779ms302261.39x
brca_bccrc_xenograft_201418689799ms23392572ms326481.40x
brca_broad4985360ms13838174ms286932.07x
brca_cptac_2020290181.475s19669877ms330751.68x
brca_dfci_202013613517ms26323423ms322041.22x
brca_dldccc_2022245111.338s18319585ms418952.29x
brca_fuscc_202062522ms2778018ms338021.22x
brca_hta9_htan_2022210381ms2605267ms313251.20x
brca_igr_2015229491.121s20466751ms305741.49x
brca_jup_msk_20201045ms229583ms400561.74x
brca_mapk_hp_msk_202163728ms2295620ms326291.42x
brca_mbcproject_2022559712.948s189851.614s346741.83x
brca_mbcproject_wagle_2017240271.351s177911s240181.35x
brca_metabric17272778ms22204317ms544552.45x
brca_mskcc_201965819ms3397814ms461831.36x
brca_pareja_msk_20203694139ms26543117ms315291.19x
brca_sanger7239290ms24937174ms416471.67x
brca_smc_20186885255ms26964193ms357441.33x
brca_tcga904904.646s194752.446s369881.90x
brca_tcga_pan_can_atlas_20181304956.065s215163.063s426061.98x
brca_tcga_pub2015699682.873s243511.564s447251.84x
brca_tcga_pub339901.5s22659835ms406881.80x
breast_alpelisib_202083327ms3129016ms528091.69x
breast_ink4_msk_20218182429ms19059170ms480052.52x
breast_msk_20189314356ms26128223ms418221.60x
ccle_broad_2019121225850.661s2392925.957s467031.95x
ccle_genentech_201426537511.72s226436.546s405431.79x
ccrcc_dfci_20194146160ms25985104ms400041.54x
ccrcc_irc_20143444148ms23299114ms302311.30x
ccrcc_sjuh_2023147656ms2621345ms330691.26x
ccrcc_utokyo_2013761051.684s452051.471s517431.14x
cellline_ccle_broad914172.628s347801.389s658341.89x
cellline_nci60741502.955s250961.299s570782.27x
cervix_msk_2023107141ms2611416ms665292.55x
cesc_tcga465471.44s32330770ms604461.87x
cesc_tcga_pan_can_atlas_20181007863.638s277071.584s636412.30x
cfdna_msk_2019388987ms4466054ms719091.61x
chl_sccc_20236812206ms3307298ms692992.10x
chol_icgc_20175107190ms2690874ms685632.55x
chol_jhu_2013198083ms2388457ms345931.45x
chol_msk_201876735ms2162910ms758033.50x
chol_nccs_201324310ms242545ms524392.16x
chol_nus_20122055ms385613ms690061.79x
chol_tcga6755165ms4082590ms752611.84x
chol_tcga_pan_can_atlas_20184500115ms3912063ms708891.81x
cll_broad_201512614295ms42800174ms723121.69x
cll_broad_2022404011.306s30943537ms752842.43x
cll_iuopa_201513631356ms38276213ms639071.67x
cllsll_icgc_2011111035ms3205713ms877272.74x
coad_caseccc_2015269669ms3931435ms764091.94x
coad_cptac_2019738332.483s297401.48s498911.68x
coad_silu_20221401274.809s291402.291s611702.10x
coadread_cass_2020504151.67s30181869ms580301.92x
coadread_dfci_20163314239.764s339434.536s730582.15x
coadread_genentech362711.293s28058833ms435381.55x
coadread_mskcc78115ms510959ms892221.75x
coadread_mskresistance_20229342310ms30167156ms599401.99x
coadread_tcga845952.316s365261.169s723721.98x
coadread_tcga_pan_can_atlas_201833261011.109s299415.657s587981.96x
coadread_tcga_pub921322.533s363681.373s671251.85x
crc_apc_impact_20204593115ms4009468ms672081.68x
crc_dd_2022182353ms3413222ms810872.38x
crc_eo_202020198650ms31085390ms518121.67x
crc_hta11_htan_2021530251.479s35858772ms686501.91x
crc_hta8_htan_20241877ms257634ms511481.99x
crc_msk_201718145528ms34373399ms454511.32x
crc_nigerian_2020157156ms2820141ms382971.36x
crc_orion_2024106237ms2882718ms598712.08x
crc_sysucc_202235687612.089s295206.688s533601.81x
cscc_dfarber_2015275795ms2895652ms526951.82x
cscc_hgsc_bcm_20141080343.033s356201.543s700341.97x
cscc_ucsf_20211461954.065s359651.982s737472.05x
csf_msk_20243944114ms34466189ms208670.61x
ctcl_columbia_2015247382ms3002832ms767012.55x
desm_broad_201528331815ms34757436ms650481.87x
difg_glass_2019240292251.445s4670820.863s1151782.47x
difg_glass152839531.891s4792514.703s1039522.17x
difg_msk_2023119435ms3418413ms909892.66x
dlbc_broad_201211655260ms44913105ms1114662.48x
dlbc_tcga16918400ms42314236ms717071.69x
dlbc_tcga_pan_can_atlas_20187784193ms4042573ms1062042.63x
dlbcl_dfci_201820328641ms31716242ms839792.65x
dlbcl_duke_20177105127ms55984101ms704741.26x
egc_msk_2017224559ms3808626ms859552.26x
egc_msk_20237480213ms3504682ms909542.60x
egc_msk_tp53_ccr_2022212657ms3709322ms983252.65x
egc_mskcc_2020341596ms3560342ms808502.27x
egc_tmucih_201513866360ms38552148ms938102.43x
egc_trap_ccr_msk_202314703497ms29590184ms800272.70x
egc_trap_msk_20206532180ms3638791ms718881.98x
es_dfarber_broad_201415232389ms39152159ms959992.45x
es_dsrct_msk_20233348ms417606ms519831.24x
es_iocurie_2014204346ms4426920ms1010282.28x
esca_broad31023822ms37744360ms862412.28x
esca_tcga586021.507s38893695ms843382.17x
esca_tcga_pan_can_atlas_2018477811.232s38775523ms913442.36x
escc_icgc7279195ms3734283ms873712.34x
escc_ucla_20143032110ms2750335ms876013.19x
gbc_msk_201881920ms407599ms904922.22x
gbc_mskcc_2022165340ms4132820ms829222.01x
gbc_shanghai_20145265129ms4095559ms897162.19x
gbm_columbia_201986335ms249129ms995213.99x
gbm_cptac_20216667158ms4227063ms1059302.51x
gbm_mayo_pdx_sarkaria_20191933934.499s429852.137s904902.11x
gbm_tcga22073584ms37783241ms914322.42x
gbm_tcga_pan_can_atlas_2018688021.758s39137814ms844802.16x
gbm_tcga_pub201316325513ms31792224ms728312.29x
gbm_tcga_pub45217ms261415ms1003793.84x
gct_msk_20163348ms430733ms1139512.65x
gct_msk_20202918ms378124ms651291.72x
gist_msk_2022107929ms3732915ms719061.93x
gist_msk_202399224ms419259ms1141502.72x
glioma_msk_2018238554ms4440121ms1144482.58x
glioma_mskcc_20198905221ms4027495ms939942.33x
hcc_clca_20242832236.221s455252.998s944642.08x
hcc_inserm_fr_201528170640ms44040300ms938992.13x
hcc_jcopo_msk_202342511ms395163ms1255383.18x
hcc_meric_202124488649ms37721289ms847622.25x
hcc_msk_20246800172ms3945380ms845412.14x
hcc_msk_venturaa_2018671ms451651ms1002562.22x
hcc_mskimpact_201860515ms402177ms820732.04x
hccihch_pku_201917544456ms38484189ms926082.41x
heme_msk_impact_202212893310ms41536135ms952492.29x
hgsoc_msk_20211836ms325902ms1076853.30x
histiocytosis_cobi_msk_201941918ms230826ms665822.88x
hnc_mskcc_2016139043ms3214913ms1053013.28x
hnsc_broad9603358ms26844120ms797372.97x
hnsc_jhu60114ms431135ms1103842.56x
hnsc_mdanderson_20133471100ms3478559ms588731.69x
hnsc_tcga1204023.414s352651.536s784032.22x
hnsc_tcga_pan_can_atlas_20181243753.374s368581.533s811302.20x
hnsc_tcga_pub526691.592s33074728ms723572.19x
ihch_ismms_20152175ms449282ms1120632.49x
ihch_msk_2021162854ms3002419ms840722.80x
ihch_mskcc_202080526ms3089714ms591961.92x
ihch_smmu_20149713253ms38422106ms912242.37x
ilc_msk_2023913ms303681ms861472.84x
kich_tcga7559267ms2832788ms858553.03x
kich_tcga_pan_can_atlas_2018326894ms3490552ms631221.81x
kich_tcga_pub178767ms2686421ms834603.11x
kirc_bgi53215ms366215ms996302.72x
kirc_tcga470121.267s37119529ms889042.40x
kirc_tcga_pan_can_atlas_201831073867ms35835512ms607011.69x
kirc_tcga_pub37725985ms38289416ms907532.37x
kirp_tcga18878506ms37320246ms767002.06x
kirp_tcga_pan_can_atlas_201834374914ms37608478ms719361.91x
laml_tcga258468ms3805727ms949472.49x
laml_tcga_pan_can_atlas_201810847311ms34843116ms935222.68x
laml_tcga_pub253266ms3849124ms1034052.69x
lcll_broad_2013312580ms3927431ms1009402.57x
lgg_tcga9885252ms39151111ms892872.28x
lgg_tcga_pan_can_atlas_2018392991.059s37110527ms745952.01x
lgg_ucsf_201415155460ms32914181ms835182.54x
lgggbm_tcga_pub307291.067s28795459ms669242.32x
lgsoc_mapk_msk_20222024ms471222ms1007992.14x
liad_inserm_fr_2014117731ms3770715ms804632.13x
lihc_amc_prv27580783ms35211383ms720382.05x
lihc_riken532ms314671ms467411.49x
lihc_tcga537771.452s37027639ms841742.27x
lihc_tcga_pan_can_atlas_2018601451.572s38257794ms757691.98x
luad_broad657671.646s39948794ms827932.07x
luad_cas_202017917553ms32394195ms917132.83x
luad_cptac_202031963760ms42052372ms858932.04x
luad_msk_npjpo_2021357994ms3801341ms862962.27x
luad_mskcc_20159049241ms3762598ms924022.46x
luad_mskcc_20204814114ms4215257ms837581.99x
luad_mskcc_2023_met_organotropism1138282.631s432571.258s904562.09x
luad_mskimpact_2021103025ms4089410ms1009042.47x
luad_oncosg_2020736781.753s42019807ms912682.17x
luad_tcga725411.949s37211901ms804872.16x
luad_tcga_pan_can_atlas_20182432296.549s371422.866s848622.28x
luad_tcga_pub725662.211s328251.049s691492.11x
luad_tsp101733ms3050712ms856672.81x
lung_msk_20177181172ms4187266ms1089712.60x
lung_msk_mind_2020295169ms4307928ms1047462.43x
lung_msk_pdx3914113ms3469344ms898602.59x
lung_nci_20228786230ms3822591ms960362.51x
lung_pdx_msk_202179817ms465976ms1240702.66x
lung_smc_2016407486ms4743445ms913031.92x
lusc_cptac_202135442965ms36744480ms738312.01x
lusc_tcga653051.625s40193779ms838202.09x
lusc_tcga_pan_can_atlas_20181991055.116s389192.393s831972.14x
lusc_tcga_pub730182.215s329621.023s713612.16x
lymphoma_cellline_msk_2020111930ms3788312ms941062.48x
makeanimpact_ccr_20232547ms368603ms727771.97x
mbc_msk_202151012ms410865ms947272.31x
mbl_broad_2012180857ms3157224ms763642.42x
mbl_dkfz_2017220060ms3650727ms823382.26x
mbl_icgc105927ms3862111ms964072.50x
mbl_pcgp55812ms447465ms1158262.59x
mbl_sickkids_20164779114ms4206650ms963982.29x
mbn_mdacc_201345470838ms54271438ms1038641.91x
mbn_msk_20245711121ms4718851ms1114432.36x
mcl_idibips_201365315ms442018ms771821.75x
mds_iwg_202215685379ms41407164ms957002.31x
mds_mskcc_2020468611.304s35933616ms761102.12x
mds_tokyo_20112616ms401562ms1118342.78x
mel_dfci_20191340393.396s394691.483s903922.29x
mel_mskimpact_202019478469ms41514205ms951922.29x
mel_tsam_liang_201733022704ms46897300ms1102152.35x
mel_ucla_201626264589ms44609259ms1012662.27x
meso_tcga6171188ms3277991ms677792.07x
meso_tcga_pan_can_atlas_20183980107ms3709043ms922762.49x
metastatic_solid_tumors_mich_2017870702.177s39995978ms890532.23x
mixed_allen_20181673074.181s400191.974s847622.12x
mixed_cfdna_msk_2020180341ms4373021ms859261.96x
mixed_impact_subset_202244111ms402865ms864432.15x
mixed_kunga_msk_202233710ms353854ms801652.27x
mixed_msk_tcga_2021215049ms4351124ms894212.06x
mixed_pipseq_2017525881.278s41141628ms836942.03x
mm_broad11142344ms32425140ms793052.45x
mng_utoronto_2021153444ms3508819ms792322.26x
mnm_washu_201680118ms447717ms1166072.60x
mpcproject_broad_202118539718ms25834392ms473341.83x
mpn_cimr_2013149639ms3790716ms964282.54x
mpnst_mskcc456790ms5096342ms1075972.11x
mrt_bcgsc_201685125ms342198ms1085603.17x
msk_access_20217358177ms4159974ms995552.39x
msk_ch_202011076198ms5594298ms1134262.03x
msk_ch_202330074779ms38606407ms738061.91x
msk_ch_ped_2021401ms422540s1236812.93x
msk_chord_20242085445.47s381252.608s799732.10x
msk_ctdna_vte_202410590246ms43096110ms963262.24x
msk_impact_2017782631.937s404061.01s774791.92x
msk_impact_50k_202647909612.183s393265.5s871072.22x
msk_met_20212304196.139s375342.776s830152.21x
msk_spectrum_tme_20222887ms399333ms997222.50x
mtnn_msk_202264614ms464966ms999532.15x
nbl_amc_201256815ms389825ms1148642.95x
nbl_broad_20135291132ms4021158ms909342.26x
nbl_target_2018_pub103520ms5226511ms982061.88x
nbl_ucologne_201592025ms373239ms1028432.76x
nccrcc_genentech_20144708132ms3569850ms938922.63x
nepc_wcm_20167363179ms4106675ms986622.40x
nhl_bcgsc_201171619ms372657ms1062622.85x
nhl_bcgsc_20139846237ms41514135ms729141.76x
normal_skin_fibroblast_2024300683ms3630929ms1024542.82x
normal_skin_keratinocytes_202425824664ms38913261ms989192.54x
normal_skin_melanocytes_2024764801.943s39371855ms894912.27x
npc_nusingapore157542ms3782518ms893632.36x
nsclc_ctdx_msk_20229733215ms4520388ms1104332.44x
nsclc_mskcc_20154180102ms4109043ms979392.38x
nsclc_mskcc_2018610141.451s42048612ms997472.37x
nsclc_pd1_msk_2018251756ms4511726ms962352.13x
nsclc_tcga_broad_201639337111.937s329545.385s730462.22x
nsclc_tracerx_20172090185.432s384812.437s857762.23x
nsclc_unito_20161243ms372141ms1226933.30x
ntrk_msk_201944012ms374735ms934342.49x
odg_msk_20172816ms437473ms1090792.49x
ov_tcga20215501ms40382206ms982522.43x
ov_tcga_pan_can_atlas_2018532041.454s36593664ms801772.19x
ov_tcga_pub19420573ms33896221ms878202.59x
paac_jhu_2014274570ms3938225ms1089592.77x
paac_msk_jco_20232857ms416923ms1037412.49x
paad_cptac_20216327184ms34451177ms356491.03x
paad_icgc262767ms3930623ms1155572.94x
paad_qcmg_uq_201623536581ms40500265ms889042.20x
paad_tcga30357885ms34306392ms774802.26x
paad_tcga_pan_can_atlas_201831394815ms38517343ms915512.38x
paad_utsw_20157259186ms3907774ms981032.51x
pact_jhu_201144410ms447594ms1078922.41x
paired_bladder_202229264795ms36815317ms922552.51x
pan_origimed_2020998952.69s371341.177s848652.29x
pancan_mimsi_msk_2024904542.427s372731.155s783162.10x
pancan_pcawg_20203829379.233s414744.168s918712.22x
pancreas_msk_2024160941ms3900114ms1111102.85x
panet_arcnet_2017309778ms3992635ms874892.19x
panet_jhu_20111576ms245414ms410541.67x
panet_msk_201892139ms2331711ms847673.64x
panet_msk_erc_202368324ms283128ms907373.20x
panet_shanghai_2013782ms412591ms873772.12x
past_dkfz_heidelberg_20132368ms289203ms907593.14x
pcnsl_mayo_2015156047ms3349014ms1097533.28x
pcnsl_msk_2024143375ms1912162ms230051.20x
pcpg_tcga4662129ms3618052ms903912.50x
pcpg_tcga_pan_can_atlas_2018266674ms3618229ms914472.53x
pcpg_tcga_pub3664116ms3149766ms558231.77x
pdac_msk_202410603239ms44314104ms1023412.31x
pediatric_dkfz_201717989562ms32024207ms867592.71x
plmeso_msk_20241815ms374573ms593851.59x
plmeso_nyu_201551714ms382175ms1080932.83x
pog570_bcgsc_202081411382m17.752s591001m4.783s1256672.13x
pptc_201942900926ms46338462ms928372.00x
prad_broad_2013275591ms3017532ms856862.84x
prad_broad5764151ms3817284ms684861.79x
prad_cdk12_mskcc_2020409792ms4450737ms1120602.52x
prad_cpcg_20176152127ms4836456ms1100142.27x
prad_eururol_2017508031.103s46058498ms1020382.22x
prad_fhcrc32763709ms46189347ms944952.05x
prad_mcspc_mskcc_2020186662ms2987518ms1018573.41x
prad_mich3853113ms3395047ms824282.43x
prad_msk_2019491ms349870s1009002.88x
prad_msk_mdanderson_20231297562.452s529141.131s1147612.17x
prad_msk_stopsack_20219005238ms3775992ms979782.59x
prad_mskcc_2017170945ms3773415ms1138883.02x
prad_mskcc_cheny1_organoids_201498327ms367768ms1193863.25x
prad_mskcc3209ms357184ms754092.11x
prad_organoids_msk_202213362324ms41214134ms995332.42x
prad_p1000953372.273s419391.146s831761.98x
prad_pik3r1_msk_20214473129ms3468648ms925702.67x
prad_su2c_2015385861.076s35875419ms920772.57x
prad_su2c_2019645661.406s45914695ms928662.02x
prad_tcga407311.115s36545553ms736492.02x
prad_tcga_pan_can_atlas_201834192890ms38409441ms775822.02x
prad_tcga_pub14045458ms30675164ms855232.79x
prostate_dkfz_2018101149018.739s539789.354s1081402.00x
prostate_msk_202410845277ms39094116ms933182.39x
prostate_pcbm_swiss_201927134740ms36659333ms814402.22x
ptad_msk_202486121ms415029ms1000482.41x
rbl_cfdna_msk_202035940460ms78081220ms1633752.09x
rbl_mskcc_20202786ms493352ms1245362.52x
rectal_msk_2019322279ms4083734ms950212.33x
rectal_msk_2022367421.044s35207419ms876232.49x
rms_msk_2023221ms366950s1239663.38x
rms_nih_201464122ms288798ms852762.95x
rt_target_2018_pub1224ms328431ms1243263.79x
sarc_mskcc451ms393840s1089222.77x
sarc_tcga20376542ms37581252ms808582.15x
sarc_tcga_pan_can_atlas_201831484783ms40216328ms960572.39x
sarc_tcga_pub12877343ms37594133ms969912.58x
sarcoma_msk_202211535360ms31999113ms1020913.19x
sarcoma_msk_202332611ms284894ms819272.88x
sarcoma_ucla_202446711ms408374ms1166292.86x
scco_mskcc191ms313630s623561.99x
sclc_cancercell_gardner_20171270202.822s450121.39s913922.03x
sclc_clcgp8723232ms3763394ms931552.48x
sclc_jhu7977180ms4421084ms955132.16x
sclc_uc_202428805641ms44918302ms954802.13x
sft_sysucc_2023128230ms4274211ms1144282.68x
skcm_broad_brafresist_2012476181.326s35899520ms915542.55x
skcm_broad2392555.526s432922.697s887002.05x
skcm_broad_dfarber9318233ms40014156ms598611.50x
skcm_dfci_2015542421.147s47300592ms916471.94x
skcm_mskcc_201438543810ms47588372ms1037212.18x
skcm_tcga3241588.729s371373.968s816882.20x
skcm_tcga_pan_can_atlas_201855686412.399s449136.114s910822.03x
skcm_tcga_pub_20152903417.91s367033.641s797412.17x
skcm_vanderbilt_mskcc_201582224ms341519ms941492.76x
skcm_yale26169560ms46706250ms1046002.24x
soft_tissue_msk_2023782ms435381ms1172862.69x
stad_oncosg_201886130921.399s402508.854s972822.42x
stad_pfizer_uhongkong17901415ms43116190ms943102.19x
stad_tcga2092175.248s398652.421s864122.17x
stad_tcga_pan_can_atlas_20182426056.331s383193.113s779282.03x
stad_tcga_pub1485203.862s384551.776s836112.17x
stad_uhongkong7036169ms4174477ms915752.19x
stad_utokyo6616165ms4017865ms1013762.52x
stes_tcga_pub2418985.59s432722.563s943732.18x
summit_2018104229ms3570010ms1091713.06x
tet_nci_201479019ms4187812ms645311.54x
tgct_tcga14672335ms43804166ms881552.01x
tgct_tcga_pan_can_atlas_2018341893ms3656237ms928682.54x
thca_tcga7458206ms3617889ms839432.32x
thca_tcga_pan_can_atlas_201811857409ms28978182ms650852.25x
thca_tcga_pub6772205ms3296883ms818322.48x
thym_tcga306482ms3736233ms930752.49x
thym_tcga_pan_can_atlas_20184919124ms3952954ms908732.30x
thyroid_mskcc_201656411ms504754ms1266672.51x
tmb_mskcc_201820563568ms36224221ms931592.57x
uccc_nih_2017170039ms4331716ms1092742.52x
ucec_ancestry_cds_msk_202315228425ms35816177ms861572.41x
ucec_ccr_cfdna_msk_202259716ms377107ms840072.23x
ucec_cptac_2020520631.318s39501620ms839192.12x
ucec_msk_2018254569ms3663531ms808322.21x
ucec_msk_2024156849ms3178918ms860292.71x
ucec_tcga1848614.165s443841.917s964472.17x
ucec_tcga_pan_can_atlas_201893565622.05s4243310.624s880692.08x
ucec_tcga_pub1848264.663s396402.16s855652.16x
ucs_jhu_201419148483ms39675186ms1031472.60x
ucs_msk_2024382595ms4031939ms970112.41x
ucs_tcga11339297ms38115124ms916502.40x
ucs_tcga_pan_can_atlas_201810409259ms40123107ms974042.43x
um_qimr_20162998ms382534ms840972.20x
urcc_mskcc_20161597ms240222ms815673.40x
usarc_msk_202034610ms359303ms1165823.24x
utuc_cornell_baylor_mdacc_20194132119ms3467655ms748842.16x
utuc_igbmc_20214254108ms3944141ms1034812.62x
utuc_msk_2019227351ms4416024ms935362.12x
utuc_mskcc_2015111225ms4499113ms877051.95x
utuc_pdx_msk_2019212849ms4344423ms920492.12x
uvm_tcga217464ms3371723ms937152.78x
uvm_tcga_pan_can_atlas_2018193552ms3695221ms914462.47x
vsc_cuk_2018303768ms4471941ms746721.67x
wt_target_2018_pub88222ms405998ms1154572.84x
Total3061213012m32.598s406755m59.873s850642.09x

Reproducing Validation

# Download test data
make download-datahub-gdc     # 32 GDC studies (~5 GB)
make download-datahub-all     # 431+ studies (~50 GB, includes GRCh37)

# Download GENCODE reference
vibe-vep download --assembly GRCh38
vibe-vep download --assembly GRCh37   # only needed for GRCh37 benchmark

# Run fast benchmark (GDC only, ~2 min)
go test ./internal/output/ -run TestValidationBenchmarkGDC -v -count=1 -timeout 10m

# Run full benchmark (all assemblies, ~21 min)
go test ./internal/output/ -run 'TestValidationBenchmark(GDC|All|AllGRCh37)' -v -count=1 -timeout 120m

Full markdown reports are generated in each study directory:

  • testdata/datahub_gdc/validation_report.md — GRCh38 (32 GDC studies)
  • testdata/datahub_all/GRCh37/validation_report.md — GRCh37 (431 studies)