JAK1 (Tyrosine-protein kinase JAK1) variants and mutations
JAK1 (also known as Tyrosine-protein kinase JAK1) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It couples many cytokine receptors to STAT transcription factors and is essential for interferon, interleukin, and growth-factor signaling. Loss-of-function can cause immunodeficiency, whereas activating alterations contribute to inflammatory disease and some malignancies. This analysis covers 2,282 JAK1 variants and mutations. Of these, 40% have computational variant effect predictions. Disease context includes rheumatoid arthritis, autoinflammation, immune dysregulation, and eosinophilia, and atopic eczema. Example JAK1 variants include M1T, Q2*, and L4V.
Variant analysis overview
- Gene: JAK1
- Protein: Tyrosine-protein kinase JAK1
- UniProt accession: P23458
- Organism: Homo sapiens
- Variants analyzed: 2282
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2,099 unspecified-consequence records; 1 stop retained variant; 88 synonymous variants; 7 frameshift variants; 75 missense variants; 5 splice-region variants; 3 stop-gained variants; 2 in-frame deletions; 2 substitution
- Prediction scores: 907 variants have prediction scores (40% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: rheumatoid arthritis, autoinflammation, immune dysregulation, and eosinophilia, atopic eczema, Eczematoid dermatitis, myelofibrosis, ulcerative colitis, psoriatic arthritis, graft versus host disease, hypothyroidism, Crohn disease, acquired polycythemia vera, COVID-19.
Protein structure and variant hotspots
- Protein features: 4 domains; 2 binding sites; 5 post-translational modification sites.
- Structural context: 2,081 variants have structural context.
- PTM context: 4 variants overlap post-translational modification sites.
- Experimental data: 24 protein positions have experimental scores. Source: Base editing screens map mutations affecting interferon-γ signalling in cancer.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable JAK1 variants
Examples include M1T, Q2*, L4V, N5S, I6T, K7R, E8*, E8G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1T (p.Met1Thr), rs2523137367, ClinGen CA340714143, ClinVar RCV003052156, Uncertain significance, not provided
- Q2* (p.Gln2Ter), Ensembl rs2101304076, CADD 50.00
- L4V (p.Leu4Val), gnomAD rs1298453909, REVEL 0.25, CADD 22.70
- N5S (p.Asn5Ser), ExAC rs752706988, gnomAD rs752706988, REVEL 0.26, CADD 22.70
- I6T (p.Ile6Thr), TOPMed rs1439006752
- K7R (p.Lys7Arg), Ensembl rs1644806619
- E8* (p.Glu8Ter), Ensembl rs2101268076
- E8G (p.Glu8Gly), NCI-TCGA Cosmic COSV6109, REVEL 0.38, CADD 25.80, Variant assessed as somatic; moderate impact.
- E8K (p.Glu8Lys), Ensembl rs2101268076
- E8Q (p.Glu8Gln), NCI-TCGA Cosmic COSV6109, Ensembl rs2101268076, REVEL 0.34, CADD 24.00, Variant assessed as somatic; moderate impact.
- C10R (p.Cys10Arg), ExAC rs765747182, gnomAD rs765747182, REVEL 0.50, CADD 24.50
- C10Y (p.Cys10Tyr), Ensembl rs2101267924
- N11D (p.Asn11Asp), ExAC rs755546309, gnomAD rs755546309
- N11S (p.Asn11Ser), rs1167926810, ClinGen CA340714060, ClinVar RCV002612703, ClinVar RCV002612704, REVEL 0.14, CADD 14.60, Uncertain significance, not provided; Inborn genetic diseases
- A14P (p.Ala14Pro), ExAC rs754269005, TOPMed rs754269005, gnomAD rs754269005, REVEL 0.39, CADD 23.50
- A14T (p.Ala14Thr), ExAC rs754269005, TOPMed rs754269005, gnomAD rs754269005, REVEL 0.27, CADD 22.60
- A14V (p.Ala14Val), NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; moderate impact.
- F15L (p.Phe15Leu), Ensembl rs2101267615, REVEL 0.33, CADD 21.10
- F15S (p.Phe15Ser), rs766817040, ClinGen CA893251, ClinVar RCV003846324, ExAC rs766817040, REVEL 0.48, CADD 25.20, Uncertain significance, not provided
- F15Y (p.Phe15Tyr), ExAC rs766817040, TOPMed rs766817040, gnomAD rs766817040, Uncertain significance
- C16F (p.Cys16Phe), TOPMed rs1644806186
- K18E (p.Lys18Glu), gnomAD rs1192481398, REVEL 0.32, CADD 24.90
- M19I (p.Met19Ile), TOPMed rs994046985, gnomAD rs994046985, REVEL 0.30, CADD 23.10
- M19V (p.Met19Val), NCI-TCGA Cosmic COSV1006, Variant assessed as somatic; moderate impact.
- R20S (p.Arg20Ser), ExAC rs760901447, gnomAD rs760901447
- R20T (p.Arg20Thr), Ensembl rs2101267433
- S21G (p.Ser21Gly), ExAC rs772951153, gnomAD rs772951153, REVEL 0.24, CADD 22.90
- S21N (p.Ser21Asn), TOPMed rs1644805833
- S22F (p.Ser22Phe), rs1644805790, ClinGen CA340713982, ClinVar RCV002613013, gnomAD rs1644805790, REVEL 0.07, CADD 23.30, Uncertain significance, not provided
- S22P (p.Ser22Pro), rs2101267269, ClinGen CA340713984, ClinVar RCV001908533, Ensembl rs2101267269, MetaLR 0.14, MetaSVM -1.00, Uncertain significance, not provided
- K23N (p.Lys23Asn), Ensembl rs1644805738
- T25S (p.Thr25Ser), rs767215058, ClinGen CA893248, ClinVar RCV001913416, ExAC rs767215058, REVEL 0.08, CADD 10.70, Uncertain significance, not provided
- E26D (p.Glu26Asp), Ensembl rs2101266938
- E26K (p.Glu26Lys), Ensembl rs1644805589, REVEL 0.26, CADD 22.20
- V27E (p.Val27Glu), Ensembl rs2101266858, REVEL 0.32, CADD 21.70
- N28I (p.Asn28Ile), Ensembl rs2101266717
- N28K (p.Asn28Lys), TOPMed rs1349640065, REVEL 0.06, CADD 0.19
- N28T (p.Asn28Thr), Ensembl rs2101266717
- L29V (p.Leu29Val), rs374273516, ClinGen CA893247, ClinVar RCV003119001, ESP rs374273516, REVEL 0.09, CADD 15.70, Uncertain significance, not provided
- E30G (p.Glu30Gly), ExAC rs768272377, gnomAD rs768272377, REVEL 0.06, CADD 21.10
- E30V (p.Glu30Val), ExAC rs768272377, gnomAD rs768272377, REVEL 0.05, CADD 19.70
- A31D (p.Ala31Asp), Ensembl rs962905354, REVEL 0.31, CADD 15.80
- A31T (p.Ala31Thr), Ensembl rs2101266439
- A31V (p.Ala31Val), Ensembl rs962905354, REVEL 0.05, CADD 15.30
- P32R (p.Pro32Arg), Ensembl rs2101266249
- E33D (p.Glu33Asp), ESP rs369162104, ExAC rs369162104, TOPMed rs369162104, gnomAD rs369162104, Likely benign
- E33G (p.Glu33Gly), rs2101266195, ClinGen CA340713910, ClinVar RCV001874745, Ensembl rs2101266195, MetaLR 0.10, MetaSVM -0.97, Uncertain significance, not provided
- E33V (p.Glu33Val), NCI-TCGA TCGA novel, Ensembl rs2101266195, Uncertain significance
- P34A (p.Pro34Ala), 1000Genomes rs115541740, ESP rs115541740, ExAC rs115541740, TOPMed rs115541740, REVEL 0.08, CADD 19.50
- P34L (p.Pro34Leu), TOPMed rs1212685019
- P34R (p.Pro34Arg), TOPMed rs1212685019
- P34S (p.Pro34Ser), 1000Genomes rs115541740, ESP rs115541740, ExAC rs115541740, TOPMed rs115541740
- P34T (p.Pro34Thr), 1000Genomes rs115541740, ESP rs115541740, ExAC rs115541740, TOPMed rs115541740
- G35R (p.Gly35Arg), Ensembl rs1644804894, REVEL 0.56, CADD 25.60
- G35V (p.Gly35Val), Ensembl rs2101265923
- V36L (p.Val36Leu), TOPMed rs1570701650, REVEL 0.12, CADD 15.20, Uncertain significance, not provided
- V36M (p.Val36Met), TOPMed rs1570701650, REVEL 0.09, CADD 22.80
- E37K (p.Glu37Lys), NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; moderate impact.
- V38E (p.Val38Glu), Ensembl rs2101265680
- V38G (p.Val38Gly), Ensembl rs2101265680
- S43L (p.Ser43Leu), rs758557529, ClinGen CA893239, ClinVar RCV001903957, ExAC rs758557529, REVEL 0.13, CADD 20.40, Uncertain significance, not provided
- S43W (p.Ser43Trp), ExAC rs758557529, TOPMed rs758557529, gnomAD rs758557529, Uncertain significance
- D44Y (p.Asp44Tyr), gnomAD rs1423947609, REVEL 0.27, CADD 24.10
- R45M (p.Arg45Met), Ensembl rs2101265206
- P47A (p.Pro47Ala), Ensembl rs1644804126
- P47S (p.Pro47Ser), Ensembl rs1644804126, REVEL 0.04, CADD 19.40
- L48H (p.Leu48His), ExAC rs779004397, gnomAD rs779004397, REVEL 0.39, CADD 27.10
- L48P (p.Leu48Pro), ExAC rs779004397, gnomAD rs779004397
- L48S (p.Leu48Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R49P (p.Arg49Pro), 1000Genomes rs137855123, ExAC rs137855123, gnomAD rs137855123
- R49Q (p.Arg49Gln), 1000Genomes rs137855123, ExAC rs137855123, gnomAD rs137855123, REVEL 0.02, CADD 12.00
- R49W (p.Arg49Trp), rs754991396, ClinGen CA893236, ClinVar RCV001984759, ClinVar RCV003322626, REVEL 0.11, CADD 22.80, Uncertain significance, Inborn genetic diseases; Autoinflammation, immune dysregulation, and eosinophili
- L50V (p.Leu50Val), TOPMed rs1570701475, gnomAD rs1570701475, REVEL 0.09, CADD 21.10
- G51D (p.Gly51Asp), gnomAD rs1434278761
- G51V (p.Gly51Val), gnomAD rs1434278761, REVEL 0.04, CADD 15.70, Uncertain significance, not provided
- S52N (p.Ser52Asn), Ensembl rs2101264598
- G53A (p.Gly53Ala), Ensembl rs2101264563
- T56I (p.Thr56Ile), Ensembl rs2101264464, REVEL 0.51, CADD 27.30
- A57T (p.Ala57Thr), Ensembl rs2101264414
- A57V (p.Ala57Val), Ensembl rs2101264379, REVEL 0.14, CADD 24.10
- E59K (p.Glu59Lys), TOPMed rs889418968, Uncertain significance
- E59Q (p.Glu59Gln), rs889418968, ClinGen CA24323400, ClinVar RCV003548395, TOPMed rs889418968, REVEL 0.33, CADD 23.50, Uncertain significance, not provided
- C61G (p.Cys61Gly), Ensembl rs2101264062
- I62T (p.Ile62Thr), ExAC rs767984058
- I62V (p.Ile62Val), rs202021264, ClinGen CA160152, ClinVar RCV000121237, ClinVar RCV001514178, REVEL 0.03, CADD 19.30, Benign/Likely benign, not provided
- R63K (p.Arg63Lys), gnomAD rs1210409026, REVEL 0.05, CADD 7.27
- A65S (p.Ala65Ser), ExAC rs761628399, gnomAD rs761628399, REVEL 0.55, CADD 25.00
- A65T (p.Ala65Thr), ExAC rs761628399, gnomAD rs761628399
- Q66* (p.Gln66Ter), ExAC rs774112825, gnomAD rs774112825
- Q66H (p.Gln66His), Ensembl rs2101263697
- Q66R (p.Gln66Arg), Ensembl rs2101263726
- A67T (p.Ala67Thr), Ensembl rs2101263671, REVEL 0.04, CADD 21.50
- R69C (p.Arg69Cys), ExAC rs762318572, TOPMed rs762318572, gnomAD rs762318572, REVEL 0.14, CADD 22.70, Uncertain significance
- R69G (p.Arg69Gly), rs762318572, ClinGen CA340713679, ClinVar RCV003836304, ExAC rs762318572, REVEL 0.10, CADD 13.70, Uncertain significance, not provided
- R69H (p.Arg69His), rs2101217893, ClinGen CA340679367, ClinVar RCV003821731, MetaLR 0.02, MetaSVM -1.03, Uncertain significance, not provided
- R69L (p.Arg69Leu), Ensembl rs2101217893
- I70V (p.Ile70Val), ExAC rs781717039, gnomAD rs781717039, REVEL 0.09, CADD 21.90, Uncertain significance, not provided
- S71C (p.Ser71Cys), ESP rs367997081, ExAC rs367997081, gnomAD rs367997081, REVEL 0.20, CADD 29.10
- S71F (p.Ser71Phe), ESP rs367997081, ExAC rs367997081, gnomAD rs367997081, REVEL 0.28, CADD 29.50
- P72H (p.Pro72His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P72L (p.Pro72Leu), Ensembl rs2101217752
- H75Y (p.His75Tyr), Ensembl rs1644729865, REVEL 0.43, CADD 23.20
- N76S (p.Asn76Ser), rs763612181, ClinGen CA893211, ClinVar RCV002584710, ExAC rs763612181, REVEL 0.39, CADD 24.20, Uncertain significance, not provided
- L77F (p.Leu77Phe), NCI-TCGA TCGA novel, Ensembl rs1644729696, REVEL 0.78, CADD 27.60, Variant assessed as somatic; moderate impact.
- L77I (p.Leu77Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L77R (p.Leu77Arg), Ensembl rs1644729630
- F78L (p.Phe78Leu), 1000Genomes rs200161963
- A79S (p.Ala79Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A79T (p.Ala79Thr), Ensembl rs2101217319, REVEL 0.41, CADD 25.70
- A79V (p.Ala79Val), Ensembl rs2101217287
- L80P (p.Leu80Pro), Ensembl rs2101217253
- Y81* (p.Tyr81Ter), NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; high impact.
- Y81C (p.Tyr81Cys), rs529625257, ClinGen CA340679148, ClinVar RCV003399797, 1000Genomes rs529625257, REVEL 0.61, CADD 24.10, Uncertain significance, JAK1-related disorder
- Y81F (p.Tyr81Phe), 1000Genomes rs529625257, ExAC rs529625257, gnomAD rs529625257, REVEL 0.16, CADD 18.90, Uncertain significance
- D82E (p.Asp82Glu), ESP rs374624103, ExAC rs374624103, TOPMed rs374624103, gnomAD rs374624103, REVEL 0.02, CADD 8.17, Likely benign
- D82G (p.Asp82Gly), rs1287667661, ClinGen CA340679129, ClinVar RCV003671795, gnomAD rs1287667661, REVEL 0.16, CADD 24.40, Uncertain significance, not provided
- E83* (p.Glu83Ter), NCI-TCGA Cosmic COSV1006, NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; high impact.
- E83K (p.Glu83Lys), rs770735783, ClinGen CA893205, ClinVar RCV001867775, ClinVar RCV003416519, REVEL 0.60, CADD 24.30, Uncertain significance, JAK1-related disorder; not provided
- N84H (p.Asn84His), Ensembl rs1644728985
- N84T (p.Asn84Thr), Ensembl rs998744051, REVEL 0.05, CADD 10.70, Uncertain significance, Inborn genetic diseases
- T85P (p.Thr85Pro), gnomAD rs1474391816, REVEL 0.14, CADD 21.70, Uncertain significance, not provided
- L87F (p.Leu87Phe), Ensembl rs1644728622
- W88* (p.Trp88Ter), Ensembl rs2101216644
- W88C (p.Trp88Cys), Ensembl rs2101216644
- Y89C (p.Tyr89Cys), rs774563390, ClinGen CA893203, ClinVar RCV001979113, ExAC rs774563390, REVEL 0.79, CADD 27.40, Uncertain significance, not provided
- A90S (p.Ala90Ser), Ensembl rs2101216593
- A90V (p.Ala90Val), Ensembl rs2101216571
- P91L (p.Pro91Leu), Ensembl rs1644728402
- P91S (p.Pro91Ser), Ensembl rs2101216513
- N92D (p.Asn92Asp), NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; moderate impact.
- R93C (p.Arg93Cys), rs768706312, ClinGen CA893202, ClinVar RCV002017769, ExAC rs768706312, REVEL 0.32, CADD 24.60, Uncertain significance, not provided
- R93H (p.Arg93His), rs1644728239, ClinGen CA340678934, NCI-TCGA Cosmic COSV6109, ClinVar RCV002790758, REVEL 0.26, MetaLR 0.05, Uncertain significance, not provided
- R93L (p.Arg93Leu), rs1644728239, ClinGen CA340678932, ClinVar RCV002020836, Ensembl rs1644728239, MetaLR 0.05, MetaSVM -1.05, Uncertain significance, not provided
- R93S (p.Arg93Ser), ExAC rs768706312, TOPMed rs768706312, gnomAD rs768706312, REVEL 0.17, CADD 23.70, Uncertain significance
- T94I (p.Thr94Ile), TOPMed rs1272401704, gnomAD rs1272401704, REVEL 0.16, CADD 5.59
- I95V (p.Ile95Val), ExAC rs780068977, gnomAD rs780068977, REVEL 0.16, CADD 22.70
- T96A (p.Thr96Ala), ExAC rs769890595, gnomAD rs769890595, REVEL 0.11, CADD 20.30
- T96I (p.Thr96Ile), rs1265709653, ClinGen CA340678899, ClinVar RCV001302055, TOPMed rs1265709653, MetaLR 0.13, MetaSVM -0.98, Uncertain significance, not provided
- T96N (p.Thr96Asn), TOPMed rs1265709653, gnomAD rs1265709653, REVEL 0.09, MetaLR 0.13, Uncertain significance
- T96S (p.Thr96Ser), ExAC rs769890595, gnomAD rs769890595, REVEL 0.11, CADD 18.60
- V97A (p.Val97Ala), ExAC rs757725554, TOPMed rs757725554, gnomAD rs757725554, REVEL 0.19, CADD 22.00
- V97I (p.Val97Ile), rs781744573, ClinGen CA893197, ClinVar RCV002711154, ExAC rs781744573, REVEL 0.07, CADD 9.01, Uncertain significance, not provided
- D99E (p.Asp99Glu), rs1366562603, ClinGen CA340678837, ClinVar RCV001961044, TOPMed rs1366562603, REVEL 0.08, CADD 13.10, Uncertain significance, not provided
- K100E (p.Lys100Glu), ExAC rs758043101, gnomAD rs758043101, REVEL 0.09, CADD 22.70
- K100N (p.Lys100Asn), Ensembl rs2101215683, REVEL 0.07, CADD 18.20, Uncertain significance, not provided
- M101I (p.Met101Ile), Ensembl rs1644727195, REVEL 0.10, CADD 1.35, Uncertain significance, not provided
- M101L (p.Met101Leu), TOPMed rs1320163960, gnomAD rs1320163960, REVEL 0.07, CADD 23.60
- M101T (p.Met101Thr), 1000Genomes rs202003827
- M101V (p.Met101Val), TOPMed rs1320163960, gnomAD rs1320163960, REVEL 0.06, CADD 23.00
- S102F (p.Ser102Phe), NCI-TCGA Cosmic COSV6109, Ensembl rs2101215539, Uncertain significance, Autoinflammation, immune dysregulation, and eosinophilia
- L103I (p.Leu103Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R104L (p.Arg104Leu), 1000Genomes rs532214548, ExAC rs532214548, TOPMed rs532214548, gnomAD rs532214548, REVEL 0.34, CADD 22.40, Uncertain significance
- R104Q (p.Arg104Gln), rs532214548, ClinGen CA893190, ClinVar RCV001902513, 1000Genomes rs532214548, REVEL 0.15, CADD 22.90, Uncertain significance, not provided
- R104W (p.Arg104Trp), rs752389823, ClinGen CA893192, ClinVar RCV003550449, ExAC rs752389823, REVEL 0.40, CADD 27.90, Uncertain significance, not provided
- L105P (p.Leu105Pro), Ensembl rs1644726937
- L105R (p.Leu105Arg), Ensembl rs1644726937
- H106L (p.His106Leu), Ensembl rs2101215219, REVEL 0.51, CADD 23.10
- H106Y (p.His106Tyr), gnomAD rs1461694087, REVEL 0.22, CADD 21.80
- Y107* (p.Tyr107Ter), Ensembl rs2101215181
- R108Q (p.Arg108Gln), Ensembl rs2101215121, REVEL 0.77, CADD 32.00
- R108W (p.Arg108Trp), rs766239143, ClinGen CA893188, NCI-TCGA Cosmic COSV6108, ClinVar RCV002829823, REVEL 0.91, CADD 29.20, Uncertain significance, not provided
- M109I (p.Met109Ile), NCI-TCGA Cosmic COSV6108, NCI-TCGA Cosmic COSV9907, Ensembl rs2101215058, Variant assessed as somatic; moderate impact.
- R110K (p.Arg110Lys), Ensembl rs2101215015
- R110M (p.Arg110Met), Ensembl rs2101215015
- Y112C (p.Tyr112Cys), ExAC rs747503301, gnomAD rs747503301, REVEL 0.82, CADD 28.10, Uncertain significance, not provided
- Y112H (p.Tyr112His), TOPMed rs1657204400
- T114A (p.Thr114Ala), TOPMed rs1278612499, REVEL 0.10, CADD 23.70
- T114S (p.Thr114Ser), TOPMed rs1657203374
- N115S (p.Asn115Ser), TOPMed rs1657203141, REVEL 0.25, CADD 26.40
- W116S (p.Trp116Ser), TOPMed rs1211018428
- H117Y (p.His117Tyr), Ensembl rs2101160420
- G118V (p.Gly118Val), Ensembl rs1657202158
- T119I (p.Thr119Ile), ExAC rs778588460, TOPMed rs778588460, gnomAD rs778588460, REVEL 0.10, CADD 23.60
- N120D (p.Asn120Asp), TOPMed rs1557653616, REVEL 0.07, CADD 22.80, Uncertain significance, not provided
- N120K (p.Asn120Lys), ESP rs377758951, ExAC rs377758951, TOPMed rs377758951, gnomAD rs377758951, Likely benign
- N120S (p.Asn120Ser), rs1420309164, ClinGen CA340677919, ClinVar RCV003691137, gnomAD rs1420309164, REVEL 0.03, CADD 19.80, Uncertain significance, not provided
- D121N (p.Asp121Asn), TOPMed rs1180823763, gnomAD rs1180823763, REVEL 0.09, CADD 23.00
- N122D (p.Asn122Asp), TOPMed rs1657199382
- N122S (p.Asn122Ser), 1000Genomes rs199914339, ExAC rs199914339, TOPMed rs199914339, gnomAD rs199914339, REVEL 0.03, CADD 7.32, Uncertain significance, not provided
- E123* (p.Glu123Ter), NCI-TCGA Cosmic COSV6109, Variant assessed as somatic; high impact.
Public JAK1 analysis runs
- JAK1 analysis run — JAK1 (2,282 variants) — completed 2026-08-19