From 8d372eb645cf85bb458206153caf70556bfbf75b Mon Sep 17 00:00:00 2001 From: Ryan Whaley Date: Tue, 19 Dec 2023 09:44:23 -0800 Subject: [PATCH] feat(data): update to CPIC version v1.35 and PharmGKB version 2023-12-19 --- .idea/modules/PharmCAT.iml | 1 - docs/Phenotypes-List.md | 2 +- docs/examples/pharmcat.example.match.html | 14 +- docs/examples/pharmcat.example.match.json | 3746 +- docs/examples/pharmcat.example.phenotype.json | 4257 +- docs/examples/pharmcat.example.report.html | 7180 +- docs/examples/pharmcat.example.report.json | 5764 +- docs/examples/pharmcat.example.vcf | 292 +- docs/examples/pharmcat.example2.match.html | 14 +- docs/examples/pharmcat.example2.match.json | 3746 +- .../examples/pharmcat.example2.phenotype.json | 4257 +- docs/examples/pharmcat.example2.report.html | 7182 +- docs/examples/pharmcat.example2.report.json | 5672 +- docs/examples/pharmcat.example2.vcf | 292 +- docs/phenotypes.tsv | 2 +- pharmcat_positions.uniallelic.vcf.bgz | Bin 7488 -> 10265 bytes pharmcat_positions.uniallelic.vcf.bgz.csi | Bin 912 -> 955 bytes pharmcat_positions.vcf | 292 +- pharmcat_positions.vcf.bgz | Bin 7692 -> 10218 bytes pharmcat_positions.vcf.bgz.csi | Bin 906 -> 957 bytes .../definition/alleles/ABCG2_translation.json | 4 +- .../alleles/CACNA1S_translation.json | 4 +- .../definition/alleles/CFTR_translation.json | 4 +- .../alleles/CYP2B6_translation.json | 4 +- .../alleles/CYP2C19_translation.json | 4 +- .../alleles/CYP2C9_translation.json | 4 +- .../alleles/CYP2D6_translation.json | 1730 +- .../alleles/CYP3A4_translation.json | 4 +- .../alleles/CYP3A5_translation.json | 4 +- .../alleles/CYP4F2_translation.json | 4 +- .../definition/alleles/DPYD_translation.json | 4 +- .../definition/alleles/F5_translation.json | 2 +- .../definition/alleles/G6PD_translation.json | 4 +- .../definition/alleles/IFNL3_translation.json | 4 +- .../alleles/NUDT15_translation.json | 4 +- .../definition/alleles/RYR1_translation.json | 218760 ++++- .../alleles/SLCO1B1_translation.json | 4 +- .../definition/alleles/TPMT_translation.json | 4 +- .../alleles/UGT1A1_translation.json | 4 +- .../alleles/VKORC1_translation.json | 4 +- .../definition/alleles/exemptions.json | 28 + .../pharmcat/phenotype/cpic/ABCG2.json | 2 +- .../pharmcat/phenotype/cpic/CACNA1S.json | 2 +- .../pharmcat/phenotype/cpic/CFTR.json | 2 +- .../pharmcat/phenotype/cpic/CYP2B6.json | 2 +- .../pharmcat/phenotype/cpic/CYP2C19.json | 2 +- .../pharmcat/phenotype/cpic/CYP2C9.json | 2 +- .../pharmcat/phenotype/cpic/CYP2D6.json | 2 +- .../pharmcat/phenotype/cpic/CYP3A5.json | 2 +- .../pharmcat/phenotype/cpic/DPYD.json | 2 +- .../pharmcat/phenotype/cpic/G6PD.json | 2 +- .../pharmcat/phenotype/cpic/IFNL3.json | 2 +- .../pharmcat/phenotype/cpic/MT_RNR1.json | 2 +- .../pharmcat/phenotype/cpic/NUDT15.json | 2 +- .../pharmcat/phenotype/cpic/RYR1.json | 692758 ++++++++++++++- .../pharmcat/phenotype/cpic/SLCO1B1.json | 2 +- .../pharmcat/phenotype/cpic/TPMT.json | 2 +- .../pharmcat/phenotype/cpic/UGT1A1.json | 2 +- .../pharmcat/phenotype/dpwg/ABCG2.json | 2 +- .../pharmcat/phenotype/dpwg/CYP2B6.json | 2 +- .../pharmcat/phenotype/dpwg/CYP2C19.json | 2 +- .../pharmcat/phenotype/dpwg/CYP2C9.json | 2 +- .../pharmcat/phenotype/dpwg/CYP2D6.json | 2 +- .../pharmcat/phenotype/dpwg/CYP3A4.json | 2 +- .../pharmcat/phenotype/dpwg/CYP3A5.json | 2 +- .../pharmcat/phenotype/dpwg/DPYD.json | 2 +- .../pharmgkb/pharmcat/phenotype/dpwg/F5.json | 2 +- .../pharmcat/phenotype/dpwg/NUDT15.json | 2 +- .../pharmcat/phenotype/dpwg/SLCO1B1.json | 2 +- .../pharmcat/phenotype/dpwg/TPMT.json | 2 +- .../pharmcat/phenotype/dpwg/UGT1A1.json | 2 +- .../pharmcat/phenotype/dpwg/VKORC1.json | 2 +- .../guidelines/CPIC_abacavir_and_HLA_B.json | 2 +- .../CPIC_allopurinol_and_HLA_B.json | 2 +- ...n_streptomycin_tobramycin_and_MT_RNR1.json | 2 +- ...CPIC_amitriptyline_and_CYP2C19_CYP2D6.json | 2 +- .../CPIC_atazanavir_and_UGT1A1.json | 2 +- .../CPIC_atomoxetine_and_CYP2D6.json | 2 +- .../CPIC_atorvastatin_and_SLCO1B1.json | 2 +- .../CPIC_azathioprine_and_NUDT15_TPMT.json | 2 +- .../CPIC_capecitabine_and_DPYD.json | 2 +- .../CPIC_carbamazepine_and_HLA_A_HLA_B.json | 2 +- ...rofen_ibuprofen_lornoxicam_and_CYP2C9.json | 2 +- ...C_citalopram_escitalopram_and_CYP2C19.json | 2 +- .../CPIC_clomipramine_and_CYP2C19_CYP2D6.json | 2 +- .../CPIC_clopidogrel_and_CYP2C19.json | 10 +- .../guidelines/CPIC_codeine_and_CYP2D6.json | 2 +- ...e_tafenoquine_toluidine_blue_and_G6PD.json | 2 +- ...voflurane_succinylcholine_and_CACNA1S.json | 488 - ...rane_succinylcholine_and_CACNA1S_RYR1.json | 1767 + ..._sevoflurane_succinylcholine_and_RYR1.json | 488 - .../CPIC_desipramine_and_CYP2D6.json | 2 +- .../CPIC_dexlansoprazole_and_CYP2C19.json | 2 +- .../CPIC_doxepin_and_CYP2C19_CYP2D6.json | 2 +- .../guidelines/CPIC_efavirenz_and_CYP2B6.json | 2 +- .../CPIC_fluorouracil_and_DPYD.json | 2 +- .../CPIC_fluvastatin_and_CYP2C9_SLCO1B1.json | 4 +- .../CPIC_fluvoxamine_and_CYP2D6.json | 2 +- ...sphenytoin_phenytoin_and_CYP2C9_HLA_B.json | 2 +- .../CPIC_hydrocodone_and_CYP2D6.json | 2 +- .../CPIC_imipramine_and_CYP2C19_CYP2D6.json | 2 +- .../guidelines/CPIC_ivacaftor_and_CFTR.json | 2 +- ...e_omeprazole_pantoprazole_and_CYP2C19.json | 2 +- .../CPIC_lovastatin_and_SLCO1B1.json | 2 +- .../guidelines/CPIC_meloxicam_and_CYP2C9.json | 2 +- .../CPIC_mercaptopurine_and_NUDT15_TPMT.json | 2 +- .../CPIC_nitrofurantoin_and_G6PD.json | 2 +- .../CPIC_nortriptyline_and_CYP2D6.json | 2 +- .../CPIC_ondansetron_and_CYP2D6.json | 2 +- .../CPIC_oxcarbazepine_and_HLA_B.json | 2 +- .../CPIC_paroxetine_and_CYP2D6.json | 2 +- ...nterferon_alfa_2b_ribavirin_and_IFNL3.json | 2 +- .../guidelines/CPIC_piroxicam_and_CYP2C9.json | 2 +- .../CPIC_pitavastatin_and_SLCO1B1.json | 2 +- .../CPIC_pravastatin_and_SLCO1B1.json | 2 +- .../guidelines/CPIC_primaquine_and_G6PD.json | 2 +- .../CPIC_rosuvastatin_and_ABCG2_SLCO1B1.json | 2 +- .../CPIC_sertraline_and_CYP2B6_CYP2C19.json | 2 +- .../CPIC_simvastatin_and_SLCO1B1.json | 2 +- .../CPIC_tacrolimus_and_CYP3A5.json | 2 +- .../guidelines/CPIC_tamoxifen_and_CYP2D6.json | 2 +- .../guidelines/CPIC_tenoxicam_and_CYP2C9.json | 2 +- .../CPIC_thioguanine_and_NUDT15_TPMT.json | 2 +- .../guidelines/CPIC_tramadol_and_CYP2D6.json | 2 +- .../CPIC_trimipramine_and_CYP2C19_CYP2D6.json | 2 +- .../CPIC_tropisetron_and_CYP2D6.json | 2 +- .../CPIC_venlafaxine_and_CYP2D6.json | 4 +- .../CPIC_voriconazole_and_CYP2C19.json | 4 +- .../CPIC_vortioxetine_and_CYP2D6.json | 2 +- ...PIC_warfarin_and_CYP2C9_CYP4F2_VKORC1.json | 4 +- .../guidelines/DPWG_abacavir_and_HLA_B.json | 2 +- .../DPWG_acenocoumarol_and_VKORC1.json | 2 +- .../DPWG_allopurinol_and_ABCG2.json | 2 +- .../DPWG_allopurinol_and_HLA_B.json | 2 +- .../DPWG_amitriptyline_and_CYP2D6.json | 2 +- .../DPWG_aripiprazole_and_CYP2D6.json | 2 +- .../DPWG_atomoxetine_and_CYP2D6.json | 4 +- .../DPWG_atorvastatin_and_SLCO1B1.json | 2 +- .../DPWG_azathioprine_and_NUDT15.json | 2 +- .../DPWG_azathioprine_and_TPMT.json | 2 +- .../DPWG_brexpiprazole_and_CYP2D6.json | 2 +- .../DPWG_capecitabine_and_DPYD.json | 2 +- .../DPWG_carbamazepine_and_HLA_A.json | 2 +- .../DPWG_carbamazepine_and_HLA_B.json | 2 +- .../DPWG_citalopram_and_CYP2C19.json | 2 +- .../DPWG_clomipramine_and_CYP2C19.json | 2 +- .../DPWG_clomipramine_and_CYP2D6.json | 2 +- .../DPWG_clopidogrel_and_CYP2C19.json | 2 +- .../guidelines/DPWG_codeine_and_CYP2D6.json | 2 +- .../guidelines/DPWG_doxepin_and_CYP2D6.json | 2 +- .../guidelines/DPWG_efavirenz_and_CYP2B6.json | 2 +- .../DPWG_eliglustat_and_CYP2D6.json | 2 +- .../DPWG_escitalopram_and_CYP2C19.json | 2 +- .../DPWG_flecainide_and_CYP2D6.json | 2 +- .../DPWG_flucloxacillin_and_HLA_B.json | 2 +- .../guidelines/DPWG_flucytosine_and_DPYD.json | 2 +- .../DPWG_fluorouracil_and_DPYD.json | 2 +- .../DPWG_haloperidol_and_CYP2D6.json | 2 +- ...ontraceptives_for_systemic_use_and_F5.json | 2 +- .../DPWG_imipramine_and_CYP2C19.json | 2 +- .../DPWG_imipramine_and_CYP2D6.json | 2 +- .../DPWG_irinotecan_and_UGT1A1.json | 2 +- .../DPWG_lamotrigine_and_HLA_B.json | 2 +- .../DPWG_lansoprazole_and_CYP2C19.json | 2 +- .../DPWG_mercaptopurine_and_NUDT15.json | 2 +- .../DPWG_mercaptopurine_and_TPMT.json | 2 +- .../DPWG_metoprolol_and_CYP2D6.json | 2 +- .../DPWG_nortriptyline_and_CYP2D6.json | 2 +- .../DPWG_omeprazole_and_CYP2C19.json | 2 +- .../DPWG_oxcarbazepine_and_HLA_B.json | 2 +- .../DPWG_pantoprazole_and_CYP2C19.json | 2 +- .../DPWG_paroxetine_and_CYP2D6.json | 2 +- .../DPWG_phenprocoumon_and_VKORC1.json | 2 +- .../guidelines/DPWG_phenytoin_and_CYP2C9.json | 2 +- .../guidelines/DPWG_phenytoin_and_HLA_B.json | 2 +- .../guidelines/DPWG_pimozide_and_CYP2D6.json | 2 +- .../DPWG_propafenone_and_CYP2D6.json | 2 +- .../DPWG_quetiapine_and_CYP3A4.json | 2 +- .../DPWG_risperidone_and_CYP2D6.json | 2 +- .../DPWG_sertraline_and_CYP2C19.json | 2 +- .../DPWG_simvastatin_and_SLCO1B1.json | 2 +- .../guidelines/DPWG_siponimod_and_CYP2C9.json | 2 +- .../DPWG_tacrolimus_and_CYP3A5.json | 2 +- .../guidelines/DPWG_tamoxifen_and_CYP2D6.json | 2 +- .../guidelines/DPWG_tegafur_and_DPYD.json | 2 +- .../DPWG_thioguanine_and_NUDT15.json | 2 +- .../guidelines/DPWG_thioguanine_and_TPMT.json | 2 +- .../guidelines/DPWG_tramadol_and_CYP2D6.json | 2 +- .../DPWG_venlafaxine_and_CYP2D6.json | 2 +- .../DPWG_voriconazole_and_CYP2C19.json | 2 +- .../guidelines/DPWG_warfarin_and_CYP2C9.json | 2 +- .../guidelines/DPWG_warfarin_and_VKORC1.json | 2 +- .../DPWG_zuclopenthixol_and_CYP2D6.json | 2 +- .../pharmgkb/pharmcat/reporter/messages.json | 4 +- .../org/pharmgkb/pharmcat/PipelineTest.java | 8 +- .../org/pharmgkb/pharmcat/reference.vcf | 292 +- 196 files changed, 947977 insertions(+), 11443 deletions(-) delete mode 100644 src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S.json create mode 100644 src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S_RYR1.json delete mode 100644 src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_RYR1.json diff --git a/.idea/modules/PharmCAT.iml b/.idea/modules/PharmCAT.iml index 3a8526fc4..2f2bba62d 100644 --- a/.idea/modules/PharmCAT.iml +++ b/.idea/modules/PharmCAT.iml @@ -10,7 +10,6 @@ - diff --git a/docs/Phenotypes-List.md b/docs/Phenotypes-List.md index 620d9ab5f..8d23673dc 100644 --- a/docs/Phenotypes-List.md +++ b/docs/Phenotypes-List.md @@ -233,7 +233,7 @@ If you are using [outside calls](/using/Outside-Call-Format), you can see how we CPIC Phenotypes -
  • Reference
  • c.103T>C
  • c.130C>T
  • c.487C>T
  • c.488G>T
  • c.742G>A
  • c.742G>C
  • c.982C>T
  • c.1021G>A
  • c.1021G>C
  • c.1201C>T
  • c.1209C>G
  • c.1565A>C
  • c.1589G>A
  • c.1597C>T
  • c.1598G>A
  • c.1654C>T
  • c.1840C>T
  • c.1841G>T
  • c.6487C>T
  • c.6488G>A
  • c.6502G>A
  • c.6617C>G
  • c.6617C>T
  • c.7007G>A
  • c.7042_7044delGAG
  • c.7048G>A
  • c.7063C>T
  • c.7124G>C
  • c.7282G>A
  • c.7300G>A
  • c.7304G>A
  • c.7354C>T
  • c.7360C>T
  • c.7361G>A
  • c.7372C>T
  • c.7373G>A
  • c.7522C>G
  • c.7522C>T
  • c.7523G>A
  • c.9310G>A
  • c.11969G>T
  • c.14387A>G
  • c.14477C>T
  • c.14497C>T
  • c.14512C>G
  • c.14545G>A
  • c.14582G>A
  • c.14693T>C
+
  • Reference
  • c.38T>G
  • c.51_53del
  • c.97A>G
  • c.103T>C
  • c.119G>C
  • c.130C>T
  • c.131G>A
  • c.152C>A
  • c.178G>A
  • c.178G>T
  • c.190T>C
  • c.212C>A
  • c.251C>T
  • c.418G>A
  • c.455C>A
  • c.463C>A
  • c.467G>A
  • c.479A>G
  • c.487C>T
  • c.488G>A
  • c.488G>T
  • c.493G>A
  • c.496G>A
  • c.497A>G
  • c.526G>A
  • c.528G>T
  • c.529C>T
  • c.533A>C
  • c.533A>G
  • c.625G>A
  • c.641C>T
  • c.652G>A
  • c.677T>A
  • c.680A>T
  • c.742G>A
  • c.742G>C
  • c.946C>T
  • c.947G>T
  • c.982C>T
  • c.992_994dup
  • c.1021G>A
  • c.1021G>C
  • c.1024G>A
  • c.1100G>A
  • c.1100G>T
  • c.1144C>A
  • c.1201C>A
  • c.1201C>G
  • c.1201C>T
  • c.1202G>A
  • c.1202G>T
  • c.1209C>G
  • c.1411C>T
  • c.1422G>T
  • c.1453A>G
  • c.1459C>G
  • c.1460T>C
  • c.1475G>A
  • c.1553T>C
  • c.1565A>C
  • c.1565A>G
  • c.1589G>A
  • c.1597C>A
  • c.1597C>T
  • c.1598G>A
  • c.1615T>C
  • c.1615T>G
  • c.1630G>T
  • c.1654C>T
  • c.1834G>C
  • c.1840C>T
  • c.1841G>T
  • c.2050G>C
  • c.2122G>A
  • c.2447C>T
  • c.2537C>T
  • c.2654G>A
  • c.2797G>A
  • c.2924G>A
  • c.2996G>A
  • c.3095G>A
  • c.3127C>T
  • c.3166G>A
  • c.3166G>C
  • c.3172G>A
  • c.3224G>A
  • c.3418C>T
  • c.3527C>T
  • c.3656A>C
  • c.3667G>A
  • c.4024A>G
  • c.4178A>G
  • c.4400A>G
  • c.4711A>G
  • c.4747C>T
  • c.4763C>T
  • c.4775C>T
  • c.5024T>C
  • c.5033A>G
  • c.5036G>A
  • c.5132A>G
  • c.5183C>T
  • c.5186T>G
  • c.5317C>T
  • c.5341T>C
  • c.5360C>T
  • c.5440A>G
  • c.5441T>A
  • c.5890C>T
  • c.6037A>C
  • c.6178G>T
  • c.6302T>A
  • c.6304G>C
  • c.6349G>C
  • c.6377G>A
  • c.6387C>G
  • c.6388G>A
  • c.6478G>A
  • c.6487C>T
  • c.6488G>A
  • c.6488G>C
  • c.6488G>T
  • c.6502G>A
  • c.6544A>T
  • c.6548G>A
  • c.6599C>T
  • c.6612C>G
  • c.6617C>G
  • c.6617C>T
  • c.6628G>T
  • c.6635T>A
  • c.6640G>A
  • c.6670C>T
  • c.6671G>A
  • c.6710G>A
  • c.6742C>T
  • c.6743G>A
  • c.6757C>T
  • c.6838G>A
  • c.6847A>C
  • c.6961A>G
  • c.7007G>A
  • c.7018T>C
  • c.7025A>G
  • c.7032G>C
  • c.7035C>A
  • c.7036G>A
  • c.7042_7044delGAG
  • c.7043A>G
  • c.7048G>A
  • c.7060G>A
  • c.7063C>T
  • c.7073T>A
  • c.7075C>T
  • c.7076G>A
  • c.7084G>A
  • c.7085A>G
  • c.7089C>G
  • c.7090T>G
  • c.7097C>G
  • c.7099G>A
  • c.7112A>G
  • c.7123G>A
  • c.7124G>C
  • c.7199A>G
  • c.7210G>A
  • c.7282G>A
  • c.7291G>A
  • c.7291G>T
  • c.7292A>T
  • c.7300G>A
  • c.7304G>A
  • c.7304G>T
  • c.7307G>A
  • c.7310C>T
  • c.7317G>C
  • c.7354C>T
  • c.7355G>A
  • c.7355G>C
  • c.7358T>C
  • c.7360C>T
  • c.7361G>A
  • c.7372C>T
  • c.7373G>A
  • c.7373G>T
  • c.7385C>T
  • c.7487C>T
  • c.7522C>G
  • c.7522C>T
  • c.7523G>A
  • c.7528T>C
  • c.7760A>G
  • c.7771C>G
  • c.7771C>T
  • c.7777C>G
  • c.7778G>A
  • c.7787C>T
  • c.7816T>A
  • c.7879G>A
  • c.7879G>C
  • c.8005G>A
  • c.8026C>T
  • c.8054C>T
  • c.8188G>C
  • c.8189A>G
  • c.8198G>A
  • c.8290G>A
  • c.8327C>T
  • c.8360C>G
  • c.8518C>T
  • c.8527T>C
  • c.8600T>A
  • c.8638G>A
  • c.8654C>G
  • c.8729C>T
  • c.8926C>T
  • c.9152G>A
  • c.9268G>A
  • c.9310G>A
  • c.9356G>A
  • c.9499C>T
  • c.9635A>G
  • c.9649T>C
  • c.9652G>A
  • c.9676G>C
  • c.9758T>C
  • c.9797T>C
  • c.9848G>A
  • c.9850T>A
  • c.9868G>A
  • c.10042C>T
  • c.10043G>A
  • c.10097G>A
  • c.10100A>G
  • c.10229C>A
  • c.10237A>T
  • c.10252A>G
  • c.10556C>T
  • c.10616G>A
  • c.10747G>C
  • c.10750G>C
  • c.10891G>T
  • c.11086G>C
  • c.11120G>T
  • c.11126C>T
  • c.11132C>T
  • c.11266C>G
  • c.11314C>T
  • c.11315G>A
  • c.11416G>A
  • c.11518G>A
  • c.11708G>A
  • c.11723A>T
  • c.11748T>G
  • c.11798A>G
  • c.11813G>A
  • c.11947C>T
  • c.11953T>C
  • c.11958C>G
  • c.11969G>T
  • c.12028G>A
  • c.12064A>G
  • c.12115A>T
  • c.12121C>T
  • c.12149C>A
  • c.12242C>T
  • c.12310G>C
  • c.12355A>T
  • c.12383C>T
  • c.12398A>G
  • c.12406C>A
  • c.12413T>C
  • c.12532G>A
  • c.12533G>T
  • c.12553G>A
  • c.12689T>G
  • c.12700G>C
  • c.12700G>T
  • c.12848A>T
  • c.12881C>T
  • c.12884C>T
  • c.13505A>G
  • c.13513G>C
  • c.13672C>T
  • c.13673G>A
  • c.13702C>G
  • c.13760C>T
  • c.13913G>A
  • c.13918A>G
  • c.13934G>A
  • c.13990T>C
  • c.13994_13995delTCinsCT
  • c.14002C>T
  • c.14051T>C
  • c.14126C>T
  • c.14168G>A
  • c.14186A>C
  • c.14197T>G
  • c.14201G>A
  • c.14209C>T
  • c.14210G>A
  • c.14270G>A
  • c.14364+1G>T
  • c.14387A>G
  • c.14422_14423delinsAA
  • c.14424C>A
  • c.14449A>T
  • c.14458G>A
  • c.14458G>T
  • c.14471T>C
  • c.14477C>T
  • c.14497C>T
  • c.14509C>G
  • c.14512C>G
  • c.14524G>A
  • c.14539G>C
  • c.14545G>A
  • c.14558C>T
  • c.14567C>G
  • c.14581C>T
  • c.14582G>A
  • c.14627A>G
  • c.14639T>C
  • c.14678G>A
  • c.14680G>A
  • c.14693T>C
  • c.14782A>G
  • c.14803G>A
  • c.14813T>C
  • c.14814C>G
  • c.14817C>A
  • c.14818G>A
  • c.14825G>T
  • c.14879T>A
  • c.14918C>T
  • c.14968A>G
  • c.15059G>C
  • c.15060G>C
  • Malignant Hyperthermia Susceptibility
  • Uncertain Susceptibility
diff --git a/docs/examples/pharmcat.example.match.html b/docs/examples/pharmcat.example.match.html index f792815da..2ab2e3e27 100644 --- a/docs/examples/pharmcat.example.match.html +++ b/docs/examples/pharmcat.example.match.html @@ -114,7 +114,7 @@

CYP2C9

CYP3A4

  • *1/*1 (84)
- + @@ -184,12 +184,12 @@

NUDT15

Definition Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
rs67666821rs4986913rs4986910rs774109750rs4986909rs12721629rs756833413rs67784355rs368296206rs1303250043rs28371759rs4646438rs138105638rs55785340rs55901263rs113667357rs4987161rs12721627rs35599367rs4986908rs72552798rs4986907rs57409622rs72552799rs778013004rs55951658rs1449865051rs56324128rs570051168rs12721634rs188389063
VCF Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
VCF REF,ALTsG,GTT,AG,AA,GT,CG,AA,TT,GG,AC,AG,AC,TA,GG,TT,CA,GG,GTT,CC,TG,AA,GG,CT,AT,CA,GG,CG,AC,GC,TC,TG,AC,TG,AT,CT,CA,TC,TG,AG,CA,GG,CC,T
Definition Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
rs67666821rs1584538410rs4986913rs4986910rs774109750rs4986909rs12721629rs756833413rs67784355rs368296206rs1303250043rs28371759rs4646438rs138105638rs55785340rs55901263rs113667357rs4987161rs12721627rs35599367rs4986908rs72552798rs4986907rs57409622rs72552799rs778013004rs55951658rs1449865051rs56324128rs570051168rs12721634rs188389063
VCF Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
VCF REF,ALTsG,GTT,AG,AA,GT,CG,AA,TT,GG,AC,AG,AC,TA,GG,TT,CA,GG,GTT,CC,TG,AA,GG,CT,AT,CA,GG,CG,AC,GC,TC,TG,AC,TG,AT,CT,CA,TC,TG,AG,CA,GG,CC,T
VCF CallG/GT/TG/GA/AT/TG/GA/AT/TG/GC/CG/GC/CA/AG/GT/TA/AG/GT/TC/CG/GA/AG/GT/TT/TA/AG/GG/GC/CC/CC/CG/GC/CG/GT/TT/TA/AC/CG/GG/GA/AG/GC/C
*1GTGATGATGCGCAGTAGTCGAGTTAGGCCCGCGTTACGGAGC
GTGATGATGCGCAGTAGTCGAGTTAGGCCCGCGTTACGGAGC

RYR1

-
  • Reference/Reference (88)
+
  • Reference/Reference (626)
- - - - + + + +
Definition Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
rs193922747rs193922748rs118192161rs193922753rs1801086rs193922762rs121918592rs193922764rs118192116rs118192162rs111888148rs193922768rs144336148rs193922770rs118192172rs193922772rs118192175rs118192163rs118192176rs118192177rs112563513rs121918596rs193922802rs193922803rs193922807rs193922809rs121918593rs28933396rs118192124rs193922816rs118192122rs28933397rs121918594rs118192178rs193922818rs193922832rs193922843rs118192167rs121918595rs193922876rs193922878rs118192168rs63749869rs118192170
VCF Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
VCF REF,ALTsT,CC,TC,TG,TG,A,CC,TG,A,CC,TC,GA,CG,AC,TG,AC,TC,TG,TC,TG,AG,AC,G,TG,ATGGA,TG,AC,TG,CG,AG,AG,AC,TC,TG,AC,TG,AC,G,TG,AG,AG,TA,GC,TC,TC,GG,AG,AT,C
VCF CallT/TC/CC/CG/GG/GC/CG/GC/CC/CA/AG/GC/CG/GC/CC/CG/GC/CG/GG/GC/CG/GTGGA/TGGAG/GC/CG/GG/GG/GG/GC/CC/CG/GC/CG/GC/CG/GG/GG/GA/AC/CC/CC/CG/GG/GT/T
ReferenceTCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT
TCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT
Definition Position38433867384407473844079638440802384408183844082938440830384408513844236138442373384423953844243438443790384441793844418738444191384442033844421138444212384442173844422038444221384442503844425238444253384442573844467138446481384464923844651738446520384467103844850038448501384486733844868038448712384487153844879138451785384518423845184338451850384529853845299638455247384552533845525438455269384553473845535938455463384554713845547238455489384555043845552838457539384575453845754638458175384582473846046138460551384634993846464938466144384662163846631538466347384663863846639238467655384690023846911138469404384694153847363538475335384778163848329338483329384833453848335738485679384856883848569138485787384858383848584138485972384859963848601538486095384860963849015138490642384925403849437938494381384944263849445438494464384944653849455538494564384945653849457938494621384946253849626538496278384962833849629438496301384963063849641538496416384964553849648738496488384965023849690138496910384991773849922338499234384992413849963938499642384996433849964438499650384996553849966738499670384996803849968238499683384996913849969238499696384996973849970438499706384997193849973038499731384998063849981738499975384999843849998538499993384999973850000038500003385000103850063638500637385006403850064238500643385006543850065538500667385008633850089838500899385009043850265238502663385026693850267038502679385027083850292338504298385043193850434738504868385048693850487838505061385053253850535838505923385059323850636138506492385065083850686538507821385115903851227938512321385123673851505238516167385161813851618438516208385174313851747038517521385175233851754138519237385192383851929238519295385194243851943238519447385254323852549238527707385277103852837238529002385290363852904238529048385347263853477438534775385351973853599838543365385433803854340538543551385435663854381038543816385438213854383238546460385464963854825338548259385482873854838038561140385611853856121338561228385612363856124338561362385613633856138338565023385650343856518238565215385652183856697838566986385706193857062038570649385720323857218538572190385722063857226238572266385731803857322938573304385759573857793138577942385779463857795438577955385780153857820538580004385800393858004138580066385800753858008838580094385801143858012638580370385803823858039738580403385804163858042538580439385804403858048538580497385849743858497638584989385850783858509938585947385859483858595138585952385859593858610138586140385861903858736238587363
rs193922744rs193922745rs193922746rs193922747rs193922748rs139161723rs193922749rs118192160rs995399438rs118192113rs186983396rs142474192rs193922750rs193922751rs193922752rs118192161rs193922753rs193922754rs193922755rs193922756rs761616815rs193922757rs771058055rs727504129rs193922759rs112596687rs193922760rs1801086rs752652072rs193922761rs193922762rs121918592rs113332073rs193922764rs193922766rs118192116rs193922767rs147723844rs901087791rs118192162rs111888148rs193922768rs144336148rs193922769rs193922770rs118204423rs118192172rs193922772rs747177274rs138874610rs376149732rs193922775rs370634440rs148623597rs778241277rs180714609rs141942845rs111272095rs2145447772rs749040743rs193922776rs549201486rs936513262rs34694816rs137933390rs145573319rs146429605rs754476250rs151029675rs193922777rs781104539rs146504767rs754785770rs193922781rs193922782rs192863857rs372958050rs34934920rs193922783rs145801146rs35364374rs746818096rs770593660rs193922788rs117886618rs193922789rs143398211rs118192175rs118192163rs118192176rs193922790rs959170123rs193922791rs141646642rs118192177rs193922792rs193922793rs193922795rs199870223rs537994744rs763352221rs140152019rs917523269rs193922797rs118192121rs34390345rs112563513rs147213895rs193922798rs193922799rs121918596rs193922801rs193922802rs193922803rs769482889rs762401851rs193922804rs193922805rs193922806rs146306934rs193922807rs976108591rs111364296rs193922809rs193922810rs121918593rs28933396rs193922812rs193922813rs118192124rs193922815rs118192123rs193922816rs118192122rs28933397rs121918594rs551223467rs193922817rs118192178rs193922818rs193922819rs767553612rs193922822rs751180702rs193922824rs748575133rs914804033rs193922826rs781126470rs193922827rs112196644rs193922828rs193922829rs147707463rs35180584rs193922830rs768535909rs193922831rs112772310rs147303895rs193922832rs193922833rs199738299rs553055844rs375626634rs757753317rs112151058rs118204421rs193922834rs137932199rs118192126rs143987857rs55876273rs193922838rs375915752rs4802584rs763112609rs193922839rs111565359rs140616359rs148399313rs193922840rs147136339rs118204422rs193922842rs193922843rs755088027rs773040531rs144685735rs193922844rs373406011rs193922848rs201321695rs193922849rs193922850rs151119428rs193922852rs193922853rs587784372rs193922855rs139647387rs150396398rs771741606rs118192130rs143520367rs118192135rs756850145rs193922860rs759500310rs193922862rs193922863rs193922864rs118192140rs200766617rs193922865rs193922866rs193922867rs193922868rs768360593rs118192167rs143988412rs193922873rs193922874rs121918595rs193922876rs193922878rs193922879rs118192168rs193922880rs118192181rs63749869rs113210953rs193922883rs118192151rs193922888rs118192170rs111657878rs118192159rs193922895rs118192158rs193922896rs193922898rs146876145
VCF Position38433867384407473844079638440802384408183844082938440830384408513844236138442373384423953844243438443790384441793844418738444191384442033844421138444212384442173844422038444221384442503844425238444253384442573844467138446481384464923844651738446520384467103844850038448501384486733844868038448712384487153844879138451785384518423845184338451850384529853845299638455247384552533845525438455269384553473845535938455463384554713845547238455489384555043845552838457539384575453845754638458175384582473846046138460551384634993846464938466144384662163846631538466347384663863846639238467655384690023846911138469404384694153847363538475335384778163848329338483329384833453848335738485679384856883848569138485787384858383848584138485972384859963848601538486095384860963849015138490642384925403849437938494381384944263849445438494464384944653849455538494564384945653849457938494621384946253849626538496278384962833849629438496301384963063849641538496416384964553849648738496488384965023849690138496910384991773849922338499234384992413849963938499642384996433849964438499650384996553849966738499670384996803849968238499683384996913849969238499696384996973849970438499706384997193849973038499731384998063849981738499975384999843849998538499993384999973850000038500003385000103850063638500637385006403850064238500643385006543850065538500667385008633850089838500899385009043850265238502663385026693850267038502679385027083850292338504298385043193850434738504868385048693850487838505061385053253850535838505923385059323850636138506492385065083850686538507821385115903851227938512321385123673851505238516167385161813851618438516208385174313851747038517521385175233851754138519237385192383851929238519295385194243851943238519447385254323852549238527707385277103852837238529002385290363852904238529048385347263853477438534775385351973853599838543365385433803854340538543551385435663854381038543816385438213854383238546460385464963854825338548259385482873854838038561140385611853856121338561228385612363856124338561362385613633856138338565023385650343856518238565215385652183856697838566986385706193857062038570649385720323857218538572190385722063857226238572266385731803857322938573304385759573857793138577942385779463857795438577955385780153857820538580004385800393858004138580066385800753858008838580094385801143858012638580370385803823858039738580403385804163858042538580439385804403858048538580497385849743858497638584989385850783858509938585947385859483858595138585952385859593858610138586140385861903858736238587363
VCF REF,ALTsT,GCGAT,CA,GT,CG,CC,TG,AC,AG,A,TT,CC,AC,TG,AC,AC,AG,AA,GC,TG,A,TG,AG,AA,GG,AG,TC,TA,C,GG,AC,TG,AT,AA,TG,A,CC,TG,TC,TT,TGGAG,A,CG,AG,A,TC,AC,A,G,TG,A,TC,GC,TG,TA,GC,GT,CG,AT,CA,C,GG,AC,A,TG,AT,C,GG,TC,TG,CC,TG,TG,CG,AC,TC,TG,AG,AG,AG,AG,AC,TG,A,CG,AG,AC,TC,TA,CG,AA,GA,GA,GA,GC,TC,TC,TT,CA,GG,AA,GC,TT,GC,TT,CC,TA,GT,AC,TA,CG,TT,AG,CG,CG,AC,GG,AG,AC,TG,A,C,TG,AA,TG,AC,TC,GC,G,TG,TT,AG,AC,TG,AG,AC,TG,AC,TG,AA,CA,GG,AT,CA,GG,CC,AG,ATGGA,TA,GG,AG,AC,TT,AC,TG,AG,AA,GC,GT,GC,GG,AA,GG,AG,CA,GG,AG,AG,A,TA,TG,AG,A,TG,AC,TG,CC,TG,A,CT,CC,TG,AC,TG,A,TC,TC,TC,G,TG,AT,CA,GC,G,TC,GG,AC,TT,AG,A,CG,AC,TC,TG,CA,GG,AG,AC,TC,GC,TT,CT,AG,AC,GC,TC,TG,AG,AG,AG,AC,TA,GT,CG,AG,CT,CT,CG,AT,AG,AC,TG,AG,AA,GC,AA,TA,GC,TG,AG,CG,CG,TG,CG,TC,TC,TC,GC,TG,AG,AG,AG,AA,TT,GA,GG,AC,TT,CC,GG,TG,AA,GA,TC,TC,AC,TG,CA,TC,TA,GC,AT,CG,AG,TG,AT,GG,C,TA,TC,TC,TA,GG,CC,TG,AC,GC,TG,AA,GG,AT,CTC,CTC,TT,CC,TG,AA,CT,GG,AC,TG,AG,AG,TA,GTT,AAC,AA,TG,A,TT,CC,TC,TC,GC,GG,AG,CG,AC,TC,GC,TG,AA,GT,CG,AG,AT,CA,GG,AT,CC,GC,AG,AG,TT,AC,TA,GG,CG,C
VCF CallT/TCGAT/CGATA/AT/TG/GC/CG/GC/CG/GT/TC/CC/CG/GC/CC/CG/GA/AC/CG/GG/GG/GA/AG/GG/GC/CA/AG/GC/CG/GT/TA/AG/GC/CG/GC/CT/TG/GG/GG/GC/CC/CG/GC/CC/CG/GA/AC/CT/TG/GT/TA/AG/GC/CG/GT/TG/GC/CG/GC/CG/GG/GG/GC/CC/CG/GG/GG/GG/GG/GC/CG/GG/GG/GC/CC/CA/AG/GA/AA/AA/AA/AC/CC/CC/CT/TA/AG/GA/AC/CT/TC/CT/TC/CA/AT/TC/CA/AG/GT/TG/GG/GG/GC/CG/GG/GC/CG/GG/GA/AG/GC/CC/CC/CG/GT/TG/GC/CG/GG/GC/CG/GC/CG/GA/AA/AG/GT/TA/AG/GC/CG/GTGGA/TGGAA/AG/GG/GC/CT/TC/CG/GG/GA/AC/CT/TC/CG/GA/AG/GG/GA/AG/GG/GG/GA/AG/GG/GG/GC/CG/GC/CG/GT/TC/CG/GC/CG/GC/CC/CC/CG/GT/TA/AC/CC/CG/GC/CT/TG/GG/GC/CC/CG/GA/AG/GG/GC/CC/CC/CT/TT/TG/GC/CC/CC/CG/GG/GG/GG/GC/CA/AT/TG/GG/GT/TT/TG/GT/TG/GC/CG/GG/GA/AC/CA/AA/AC/CG/GG/GG/GG/GG/GG/GC/CC/CC/CC/CG/GG/GG/GG/GA/AT/TA/AG/GC/CT/TC/CG/GG/GA/AA/AC/CC/CC/CG/GA/AC/CA/AC/CT/TG/GG/GG/GT/TG/GA/AC/CC/CA/AG/GC/CG/GC/CC/CG/GA/AG/GT/TTC/TCC/CT/TC/CG/GA/AT/TG/GC/CG/GG/GG/GA/ATT/TTC/CA/AG/GT/TC/CC/CC/CC/CG/GG/GG/GC/CC/CC/CG/GA/AT/TG/GG/GT/TA/AG/GT/TC/CC/CG/GG/GT/TC/CA/AG/GG/G
ReferenceTCGATATGCGCGTCCGCCGACGGGAGGCAGCGTAGCGCTGGGCCGCCGACTGTAGCGTGCGCGGGCCGGGGGCGGGCCAGAAAACCCTAGACTCTCATCAGTGGGCGGCGGAGCCCGTGCGGCGCGAAGTAGCGTGGAAGGCTCGGACTCGAGGAGGGAGGGCGCGTCGCGCCCGTACCGCTGGCCGAGGCCCTTGCCCGGGGCATGGTTGTGCGGACAACGGGGGGCCCCGGGGATAGCTCGGAACCCGACACTGGGTGACCAGCGCCGAGTTCCTCGATGCGGGATTCAGTCCCCGGGCCCGATGGTAGTCCGGTCAGG
TCGATATGCGCGTCCGCCGACGGGAGGCAGCGTAGCGCTGGGCCGCCGACTGTAGCGTGCGCGGGCCGGGGGCGGGCCAGAAAACCCTAGACTCTCATCAGTGGGCGGCGGAGCCCGTGCGGCGCGAAGTAGCGTGGAAGGCTCGGACTCGAGGAGGGAGGGCGCGTCGCGCCCGTACCGCTGGCCGAGGCCCTTGCCCGGGGCATGGTTGTGCGGACAACGGGGGGCCCCGGGGATAGCTCGGAACCCGACACTGGGTGACCAGCGCCGAGTTCCTCGATGCGGGATTCAGTCCCCGGGCCCGATGGTAGTCCGGTCAGG

SLCO1B1

@@ -234,7 +234,7 @@

VKORC1

- Generated on 10/22/23. + Generated on 12/19/23.

diff --git a/docs/examples/pharmcat.example.match.json b/docs/examples/pharmcat.example.match.json index 2061f98c7..51c756e76 100644 --- a/docs/examples/pharmcat.example.match.json +++ b/docs/examples/pharmcat.example.match.json @@ -3,7 +3,7 @@ "namedAlleleMatcherVersion": "2.0.0", "genomeBuild": "GRCh38.p13", "inputFilename": "pharmcat.example.vcf", - "timestamp": "2023-10-22T19:01:28.716Z", + "timestamp": "2023-12-19T20:39:34.143Z", "topCandidatesOnly": true, "findCombinations": false, "callCyp2d": false @@ -11,7 +11,7 @@ "results": [ { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr4", "gene": "ABCG2", "diplotypes": [ @@ -107,7 +107,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr1", "gene": "CACNA1S", "diplotypes": [ @@ -215,7 +215,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr7", "gene": "CFTR", "diplotypes": [ @@ -767,7 +767,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "CYP2B6", "diplotypes": [ @@ -1415,7 +1415,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr10", "gene": "CYP2C19", "diplotypes": [ @@ -1907,7 +1907,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr10", "gene": "CYP2C9", "diplotypes": [ @@ -2958,7 +2958,7 @@ }, { "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "chromosome": "chr7", "gene": "CYP3A4", "diplotypes": [ @@ -3286,7 +3286,7 @@ }, { "position": 99758228, - "rsid": null, + "rsid": "rs1584538410", "vcfCall": "T/T", "phased": false }, @@ -3546,7 +3546,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr7", "gene": "CYP3A5", "diplotypes": [ @@ -3690,7 +3690,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "CYP4F2", "diplotypes": [ @@ -3930,7 +3930,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr1", "gene": "DPYD", "diplotypes": [ @@ -4998,7 +4998,7 @@ }, { "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "chromosome": "chr1", "gene": "F5", "diplotypes": [ @@ -5094,7 +5094,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chrX", "gene": "G6PD", "diplotypes": [ @@ -7232,7 +7232,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "IFNL3", "diplotypes": [ @@ -7328,7 +7328,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr13", "gene": "NUDT15", "diplotypes": [ @@ -7616,7 +7616,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "RYR1", "diplotypes": [ @@ -7629,544 +7629,3610 @@ "id": "779148", "alleles": [ "T", - "C", + "CGAT", + "A", + "T", + "G", "C", "G", + "C", "G", + "T", + "C", "C", "G", "C", "C", + "G", + "A", + "C", + "G", + "G", + "G", "A", "G", + "G", "C", + "A", "G", "C", + "G", + "T", + "A", + "G", "C", "G", "C", + "T", + "G", "G", "G", "C", + "C", "G", - "TGGA", + "C", + "C", "G", + "A", "C", + "T", "G", + "T", + "A", "G", + "C", "G", + "T", "G", "C", + "G", "C", "G", + "G", + "G", + "C", "C", "G", + "G", + "G", + "G", + "G", "C", "G", "G", "G", + "C", + "C", + "A", + "G", + "A", + "A", + "A", "A", "C", "C", "C", + "T", + "A", "G", - "G", - "T" - ], - "cpicAlleles": [ + "A", + "C", + "T", + "C", "T", "C", + "A", + "T", "C", + "A", + "G", + "T", "G", "G", - "C", "G", "C", + "G", + "G", "C", + "G", + "G", "A", "G", "C", - "G", "C", "C", "G", + "T", + "G", "C", "G", "G", "C", "G", - "GAG", + "C", + "G", + "A", + "A", + "G", + "T", + "A", "G", "C", "G", + "TGGA", + "A", + "G", "G", + "C", + "T", + "C", "G", "G", + "A", + "C", + "T", "C", + "G", + "A", + "G", + "G", + "A", + "G", + "G", + "G", + "A", + "G", + "G", + "G", "C", "G", "C", "G", + "T", "C", "G", + "C", "G", + "C", + "C", + "C", "G", + "T", "A", "C", "C", + "G", "C", + "T", "G", "G", - "T" - ], - "populationFrequency": null, - "reference": true, - "numCombinations": 0, - "numPartials": 0 - }, - "sequences": [ - "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" - ] - }, - "haplotype2": { - "name": "Reference", - "haplotype": { - "name": 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"G", "C", + "G", "C", - "A", "G", + "T", + "C", "C", "G", "C", "C", "G", + "A", "C", "G", "G", + "G", + "A", + "G", + "G", "C", + "A", "G", - "GAG", + "C", + "G", + "T", + "A", + "G", + "C", "G", "C", + "del", "G", "G", "G", + "C", + "C", "G", "C", "C", "G", + "A", "C", + "T", + "G", + "T", + "A", "G", "C", "G", + "T", "G", + "C", "G", - "A", "C", + "G", + "G", + "G", "C", "C", "G", "G", - "T" - ], - "populationFrequency": null, - "reference": true, - "numCombinations": 0, - "numPartials": 0 + "G", + "G", + "G", + "C", + "G", + "G", + "G", + "C", + "C", + "A", + "G", + "A", + "A", + "A", + "A", + "C", + "C", + "C", + "T", + "A", + "G", + "A", + "C", + "T", + "C", + "T", + "C", + "A", + "T", + "C", + "A", + "G", + "T", + "G", + "G", + "G", + "C", + "G", + "G", + "C", + "G", + "G", + "A", + "G", + "C", + "C", + "C", + "G", + "T", + "G", + "C", + "G", + "G", + "C", + "G", + "C", + "G", + "A", + "A", + "G", + "T", + "A", + "G", + "C", + "G", + "GAG", + "A", + "G", + "G", + "C", + "T", + 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38577942, + "rsid": "rs193922865", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38577946, + "rsid": "rs193922866", "vcfCall": "G/G", "phased": false }, { - "position": 38500898, - "rsid": "rs118192178", + "position": 38577954, + "rsid": "rs193922867", "vcfCall": "C/C", "phased": false }, { - "position": 38500899, - "rsid": "rs193922818", + "position": 38577955, + "rsid": "rs193922868", "vcfCall": "G/G", "phased": false }, { - "position": 38512321, - "rsid": "rs193922832", + "position": 38578015, + "rsid": "rs768360593", "vcfCall": "G/G", "phased": false }, { - "position": 38543832, - "rsid": "rs193922843", + "position": 38578205, + "rsid": null, "vcfCall": "G/G", "phased": false }, @@ -8176,6 +11242,36 @@ "vcfCall": "A/A", "phased": false }, + { + "position": 38580039, + "rsid": null, + "vcfCall": "TT/TT", + "phased": false + }, + { + "position": 38580041, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580066, + "rsid": "rs143988412", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38580075, + "rsid": "rs193922873", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38580088, + "rsid": "rs193922874", + "vcfCall": "T/T", + "phased": false + }, { "position": 38580094, "rsid": "rs121918595", @@ -8188,29 +11284,161 @@ "vcfCall": "C/C", "phased": false }, + { + "position": 38580126, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, { "position": 38580370, "rsid": "rs193922878", "vcfCall": "C/C", "phased": false }, + { + "position": 38580382, + "rsid": "rs193922879", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38580397, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, { "position": 38580403, "rsid": "rs118192168", "vcfCall": "G/G", "phased": false }, + { + "position": 38580416, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580425, + "rsid": "rs193922880", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580439, + "rsid": "rs118192181", + "vcfCall": "C/C", + "phased": false + }, { "position": 38580440, "rsid": "rs63749869", "vcfCall": "G/G", "phased": false }, + { + "position": 38580485, + "rsid": "rs113210953", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38580497, + "rsid": "rs193922883", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38584974, + "rsid": "rs118192151", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38584976, + "rsid": "rs193922888", + "vcfCall": "G/G", + "phased": false + }, { "position": 38584989, "rsid": "rs118192170", "vcfCall": "T/T", "phased": false + }, + { + "position": 38585078, + "rsid": null, + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38585099, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38585947, + "rsid": "rs111657878", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38585948, + "rsid": "rs118192159", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38585951, + "rsid": "rs193922895", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38585952, + "rsid": "rs118192158", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38585959, + "rsid": "rs193922896", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38586101, + "rsid": "rs193922898", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38586140, + "rsid": "rs146876145", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38586190, + "rsid": null, + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38587362, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38587363, + "rsid": null, + "vcfCall": "G/G", + "phased": false } ], "variantsOfInterest": [], @@ -8228,7 +11456,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr12", "gene": "SLCO1B1", "diplotypes": [ @@ -8684,7 +11912,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr6", "gene": "TPMT", "diplotypes": [ @@ -9284,7 +12512,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr2", "gene": "UGT1A1", "diplotypes": [ @@ -9416,7 +12644,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr16", "gene": "VKORC1", "diplotypes": [ diff --git a/docs/examples/pharmcat.example.phenotype.json b/docs/examples/pharmcat.example.phenotype.json index 2f1c6128f..fc28587ef 100644 --- a/docs/examples/pharmcat.example.phenotype.json +++ b/docs/examples/pharmcat.example.phenotype.json @@ -2,9 +2,9 @@ "geneReports": { "CPIC": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "ABCG2", "chr": "chr4", @@ -107,9 +107,9 @@ "treatUndocumentedVariationsAsReference": false }, "CACNA1S": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CACNA1S", "chr": "chr1", @@ -234,9 +234,9 @@ "treatUndocumentedVariationsAsReference": false }, "CFTR": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CFTR", "chr": "chr7", @@ -871,9 +871,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -1668,9 +1668,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -2311,9 +2311,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -3554,7 +3554,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2D6", "chr": null, @@ -3658,9 +3658,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -3827,7 +3827,7 @@ "treatUndocumentedVariationsAsReference": false }, "CYP4F2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -4102,9 +4102,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "DPYD", "chr": "chr1", @@ -5391,9 +5391,9 @@ "treatUndocumentedVariationsAsReference": false }, "G6PD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "G6PD", "chr": "chrX", @@ -8117,9 +8117,9 @@ "treatUndocumentedVariationsAsReference": false }, "IFNL3": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "IFNL3", "chr": "chr19", @@ -8224,7 +8224,7 @@ "MT-RNR1": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "MT-RNR1", "chr": null, @@ -8316,9 +8316,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "NUDT15", "chr": "chr13", @@ -8656,9 +8656,9 @@ "treatUndocumentedVariationsAsReference": false }, "RYR1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "RYR1", "chr": "chr19", @@ -8749,6 +8749,48 @@ } ], "variants": [ + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38433867, + "dbSnpId": "rs193922744", + "call": "T/T", + "alleles": [ + "c.38T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440747, + "dbSnpId": "rs193922745", + "call": "CGAT/CGAT", + "alleles": [ + "c.51_53del" + ], + "phased": false, + "wildtypeAllele": "CGAT", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440796, + "dbSnpId": "rs193922746", + "call": "A/A", + "alleles": [ + "c.97A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8763,6 +8805,20 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440818, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.119G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8777,6 +8833,161 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440830, + "dbSnpId": "rs139161723", + "call": "G/G", + "alleles": [ + "c.131G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440851, + "dbSnpId": "rs193922749", + "call": "C/C", + "alleles": [ + "c.152C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442361, + "dbSnpId": "rs118192160", + "call": "G/G", + "alleles": [ + "c.178G>A", + "c.178G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442373, + "dbSnpId": "rs995399438", + "call": "T/T", + "alleles": [ + "c.190T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442395, + "dbSnpId": "rs118192113", + "call": "C/C", + "alleles": [ + "c.212C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442434, + "dbSnpId": "rs186983396", + "call": "C/C", + "alleles": [ + "c.251C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38443790, + "dbSnpId": "rs142474192", + "call": "G/G", + "alleles": [ + "c.418G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444179, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.455C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444187, + "dbSnpId": "rs193922750", + "call": "C/C", + "alleles": [ + "c.463C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444191, + "dbSnpId": "rs193922751", + "call": "G/G", + "alleles": [ + "c.467G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444203, + "dbSnpId": "rs193922752", + "call": "A/A", + "alleles": [ + "c.479A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8798,6 +9009,7 @@ "dbSnpId": "rs193922753", "call": "G/G", "alleles": [ + "c.488G>A", "c.488G>T" ], "phased": false, @@ -8808,12 +9020,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38446710, - "dbSnpId": "rs1801086", + "position": 38444217, + "dbSnpId": "rs193922754", "call": "G/G", "alleles": [ - "c.742G>A", - "c.742G>C" + "c.493G>A" ], "phased": false, "wildtypeAllele": "G", @@ -8823,26 +9034,3589 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38448673, - "dbSnpId": "rs193922762", + "position": 38444220, + "dbSnpId": "rs193922755", + "call": "G/G", + "alleles": [ + "c.496G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444221, + "dbSnpId": "rs193922756", + "call": "A/A", + "alleles": [ + "c.497A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444250, + "dbSnpId": "rs761616815", + "call": "G/G", + "alleles": [ + "c.526G>A" + ], + 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}, { "gene": "RYR1", "chromosome": "chr19", - "position": 38448712, - "dbSnpId": "rs121918592", + "position": 38577946, + "dbSnpId": "rs193922866", "call": "G/G", "alleles": [ - "c.1021G>A", - "c.1021G>C" + "c.14201G>A" ], "phased": false, "wildtypeAllele": "G", @@ -8852,11 +12626,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451842, - "dbSnpId": "rs193922764", + "position": 38577954, + "dbSnpId": "rs193922867", "call": "C/C", "alleles": [ - "c.1201C>T" + "c.14209C>T" ], "phased": false, "wildtypeAllele": "C", @@ -8866,39 +12640,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451850, - "dbSnpId": "rs118192116", - "call": "C/C", + "position": 38577955, + "dbSnpId": "rs193922868", + "call": "G/G", "alleles": [ - "c.1209C>G" + "c.14210G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455359, - "dbSnpId": "rs118192162", - "call": "A/A", + "position": 38578015, + "dbSnpId": "rs768360593", + "call": "G/G", "alleles": [ - "c.1565A>C" + "c.14270G>A" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455463, - "dbSnpId": "rs111888148", + "position": 38578205, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.1589G>A" + "c.14364+1G>T" ], "phased": false, "wildtypeAllele": "G", @@ -8908,39 +12682,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455471, - "dbSnpId": "rs193922768", - "call": "C/C", + "position": 38580004, + "dbSnpId": "rs118192167", + "call": "A/A", "alleles": [ - "c.1597C>T" + "c.14387A>G" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455472, - "dbSnpId": "rs144336148", - "call": "G/G", + "position": 38580039, + "dbSnpId": null, + "call": "TT/TT", "alleles": [ - "c.1598G>A" + "c.14422_14423delinsAA" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "TT", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455528, - "dbSnpId": "rs193922770", + "position": 38580041, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.1654C>T" + "c.14424C>A" ], "phased": false, "wildtypeAllele": "C", @@ -8950,25 +12724,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38457545, - "dbSnpId": "rs118192172", - "call": "C/C", + "position": 38580066, + "dbSnpId": "rs143988412", + "call": "A/A", "alleles": [ - "c.1840C>T" + "c.14449A>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38457546, - "dbSnpId": "rs193922772", + "position": 38580075, + "dbSnpId": "rs193922873", "call": "G/G", "alleles": [ - "c.1841G>T" + "c.14458G>A", + "c.14458G>T" ], "phased": false, "wildtypeAllele": "G", @@ -8978,11 +12753,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494564, - "dbSnpId": "rs118192175", + "position": 38580088, + "dbSnpId": "rs193922874", + "call": "T/T", + "alleles": [ + "c.14471T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580094, + "dbSnpId": "rs121918595", "call": "C/C", "alleles": [ - "c.6487C>T" + "c.14477C>T" ], "phased": false, "wildtypeAllele": "C", @@ -8992,40 +12781,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494565, - "dbSnpId": "rs118192163", - "call": "G/G", + "position": 38580114, + "dbSnpId": "rs193922876", + "call": "C/C", "alleles": [ - "c.6488G>A" + "c.14497C>T" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38494579, - "dbSnpId": "rs118192176", - "call": "G/G", + "position": 38580126, + "dbSnpId": null, + "call": "C/C", "alleles": [ - "c.6502G>A" + "c.14509C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38496283, - "dbSnpId": "rs118192177", + "position": 38580370, + "dbSnpId": "rs193922878", "call": "C/C", "alleles": [ - "c.6617C>G", - "c.6617C>T" + "c.14512C>G" ], "phased": false, "wildtypeAllele": "C", @@ -9035,11 +12823,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499223, - "dbSnpId": "rs112563513", + "position": 38580382, + "dbSnpId": "rs193922879", "call": "G/G", "alleles": [ - "c.7007G>A" + "c.14524G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9049,25 +12837,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499644, - "dbSnpId": "rs121918596", - "call": "TGGA/TGGA", + "position": 38580397, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.7042_7044delGAG" + "c.14539G>C" ], "phased": false, - "wildtypeAllele": "TGGA", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499655, - "dbSnpId": "rs193922802", + "position": 38580403, + "dbSnpId": "rs118192168", "call": "G/G", "alleles": [ - "c.7048G>A" + "c.14545G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9077,11 +12865,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499670, - "dbSnpId": "rs193922803", + "position": 38580416, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.7063C>T" + "c.14558C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9091,39 +12879,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499731, - "dbSnpId": "rs193922807", - "call": "G/G", + "position": 38580425, + "dbSnpId": "rs193922880", + "call": "C/C", "alleles": [ - "c.7124G>C" + "c.14567C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499975, - "dbSnpId": "rs193922809", - "call": "G/G", + "position": 38580439, + "dbSnpId": "rs118192181", + "call": "C/C", "alleles": [ - "c.7282G>A" + "c.14581C>T" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499993, - "dbSnpId": "rs121918593", + "position": 38580440, + "dbSnpId": "rs63749869", "call": "G/G", "alleles": [ - "c.7300G>A" + "c.14582G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9133,53 +12921,53 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499997, - "dbSnpId": "rs28933396", - "call": "G/G", + "position": 38580485, + "dbSnpId": "rs113210953", + "call": "A/A", "alleles": [ - "c.7304G>A" + "c.14627A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500636, - "dbSnpId": "rs118192124", - "call": "C/C", + "position": 38580497, + "dbSnpId": "rs193922883", + "call": "T/T", "alleles": [ - "c.7354C>T" + "c.14639T>C" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500642, - "dbSnpId": "rs193922816", - "call": "C/C", + "position": 38584974, + "dbSnpId": "rs118192151", + "call": "G/G", "alleles": [ - "c.7360C>T" + "c.14678G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500643, - "dbSnpId": "rs118192122", + "position": 38584976, + "dbSnpId": "rs193922888", "call": "G/G", "alleles": [ - "c.7361G>A" + "c.14680G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9189,138 +12977,137 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500654, - "dbSnpId": "rs28933397", - "call": "C/C", + "position": 38584989, + "dbSnpId": "rs118192170", + "call": "T/T", "alleles": [ - "c.7372C>T" + "c.14693T>C" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500655, - "dbSnpId": "rs121918594", - "call": "G/G", + "position": 38585078, + "dbSnpId": null, + "call": "A/A", "alleles": [ - "c.7373G>A" + "c.14782A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500898, - "dbSnpId": "rs118192178", - "call": "C/C", + "position": 38585099, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.7522C>G", - "c.7522C>T" + "c.14803G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500899, - "dbSnpId": "rs193922818", - "call": "G/G", + "position": 38585947, + "dbSnpId": "rs111657878", + "call": "T/T", "alleles": [ - "c.7523G>A" + "c.14813T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38512321, - "dbSnpId": "rs193922832", - "call": "G/G", + "position": 38585948, + "dbSnpId": "rs118192159", + "call": "C/C", "alleles": [ - "c.9310G>A" + "c.14814C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38543832, - "dbSnpId": "rs193922843", - "call": "G/G", + "position": 38585951, + "dbSnpId": "rs193922895", + "call": "C/C", "alleles": [ - "c.11969G>T" + "c.14817C>A" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580004, - "dbSnpId": "rs118192167", - "call": "A/A", + "position": 38585952, + "dbSnpId": "rs118192158", + "call": "G/G", "alleles": [ - "c.14387A>G" + "c.14818G>A" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580094, - "dbSnpId": "rs121918595", - "call": "C/C", + "position": 38585959, + "dbSnpId": "rs193922896", + "call": "G/G", "alleles": [ - "c.14477C>T" + "c.14825G>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580114, - "dbSnpId": "rs193922876", - "call": "C/C", + "position": 38586101, + "dbSnpId": "rs193922898", + "call": "T/T", "alleles": [ - "c.14497C>T" + "c.14879T>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580370, - "dbSnpId": "rs193922878", + "position": 38586140, + "dbSnpId": "rs146876145", "call": "C/C", "alleles": [ - "c.14512C>G" + "c.14918C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9330,25 +13117,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38580403, - "dbSnpId": "rs118192168", - "call": "G/G", + "position": 38586190, + "dbSnpId": null, + "call": "A/A", "alleles": [ - "c.14545G>A" + "c.14968A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580440, - "dbSnpId": "rs63749869", + "position": 38587362, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.14582G>A" + "c.15059G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9358,14 +13145,14 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38584989, - "dbSnpId": "rs118192170", - "call": "T/T", + "position": 38587363, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.14693T>C" + "c.15060G>C" ], "phased": false, - "wildtypeAllele": "T", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] } @@ -9375,9 +13162,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -9952,9 +13739,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "TPMT", "chr": "chr6", @@ -10657,9 +14444,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -10818,7 +14605,7 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -10917,9 +14704,9 @@ }, "DPWG": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "ABCG2", "chr": "chr4", @@ -11022,9 +14809,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -11819,9 +15606,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -12462,9 +16249,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -13705,7 +17492,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2D6", "chr": null, @@ -13809,9 +17596,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A4": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A4", "chr": "chr7", @@ -13920,7 +17707,7 @@ "gene": "CYP3A4", "chromosome": "chr7", "position": 99758228, - "dbSnpId": null, + "dbSnpId": "rs1584538410", "call": "T/T", "alleles": [ "*46" @@ -14500,9 +18287,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -14669,9 +18456,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "DPYD", "chr": "chr1", @@ -15958,9 +19745,9 @@ "treatUndocumentedVariationsAsReference": false }, "F5": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "F5", "chr": "chr1", @@ -16349,9 +20136,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "NUDT15", "chr": "chr13", @@ -16689,9 +20476,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -17266,9 +21053,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "TPMT", "chr": "chr6", @@ -17971,9 +21758,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -18132,9 +21919,9 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "VKORC1", "chr": "chr16", diff --git a/docs/examples/pharmcat.example.report.html b/docs/examples/pharmcat.example.report.html index a753892b9..e73062bba 100644 --- a/docs/examples/pharmcat.example.report.html +++ b/docs/examples/pharmcat.example.report.html @@ -404,9 +404,9 @@
- - - + + +
Date createdOctober 22, 2023
PharmCAT Versionv2.8.2-6-g5d86ea92
CPIC Versionv1.32.0
Date createdDecember 19, 2023
PharmCAT Versionv2.8.3-13-g5cb67175
CPIC Versionv1.35.0-2-gf40f6f6
@@ -2790,7 +2790,7 @@

Other Considerations

  • Pharmacogenetics: from bench to byte--an update of guidelines. Clinical pharmacology and therapeutics. 2011. PMID:21412232
    • -
  • Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate. European journal of human genetics : EJHG. 2022. PMID:36509836
    • +
  • Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction of CYP2D6 and COMT with atomoxetine and methylphenidate. European journal of human genetics : EJHG. 2023. PMID:36509836
    • @@ -4240,7 +4240,7 @@

    dapsone

    desflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    @@ -4264,7 +4264,7 @@

    desflurane

    CPIC - 1, 2 + 1

    @@ -4277,7 +4277,7 @@

    desflurane

  • - CACNA1S:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -4289,45 +4289,7 @@

    desflurane

    -
    • - - - - - - - - - - - + @@ -4873,7 +4835,7 @@

    eliglustat

    enflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    -     		-
    Genotype
    -
      - -
    • - - RYR1:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -4897,45 +4859,7 @@

    enflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -5993,7 +5917,7 @@

    haloperidol

    halothane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -4948,7 +4872,7 @@

    enflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -4960,7 +4884,7 @@

    enflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -6017,45 +5941,7 @@

    halothane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -6561,7 +6447,7 @@

    irinotecan

    isoflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -6068,7 +5954,7 @@

    halothane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -6080,7 +5966,7 @@

    halothane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -6585,45 +6471,7 @@

    isoflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -7438,7 +7286,7 @@

    Other Considerations

    methoxyflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -6636,7 +6484,7 @@

    isoflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -6648,7 +6496,7 @@

    isoflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -7462,45 +7310,7 @@

    methoxyflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -10190,7 +10000,7 @@

    sertraline

    sevoflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -7513,7 +7323,7 @@

    methoxyflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -7525,7 +7335,7 @@

    methoxyflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -10214,45 +10024,7 @@

    sevoflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -10589,7 +10361,7 @@

    Other Considerations

    succinylcholine

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -10265,7 +10037,7 @@

    sevoflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -10277,7 +10049,7 @@

    sevoflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -10613,45 +10385,7 @@

    succinylcholine

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -18164,7 +17898,7 @@

    Calls at Positions

    - + @@ -26796,6 +26530,8 @@

    RYR1 allele match data

    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    The RYR1 Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.
    @@ -26816,8 +26552,8 @@

    Calls at Positions

    - - + + @@ -26829,7 +26565,7 @@

    Calls at Positions

      -
    • c.103T>C - Malignant Hyperthermia associated
      • +
    • c.38T>G - Malignant Hyperthermia associated
    @@ -26840,20 +26576,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -26925,9 +26661,7 @@

    Calls at Positions

      -
    • c.742G>A - Malignant Hyperthermia associated
      • - -
    • c.742G>C - Malignant Hyperthermia associated
      • +
    • c.119G>C - Uncertain function
    @@ -26938,8 +26672,8 @@

    Calls at Positions

    - - + + @@ -26951,7 +26685,7 @@

    Calls at Positions

      -
    • c.982C>T - Malignant Hyperthermia associated
      • +
    • c.130C>T - Malignant Hyperthermia associated
    @@ -26962,8 +26696,8 @@

    Calls at Positions

    - - + + @@ -26975,9 +26709,7 @@

    Calls at Positions

      -
    • c.1021G>A - Malignant Hyperthermia associated
      • - -
    • c.1021G>C - Malignant Hyperthermia associated
      • +
    • c.131G>A - Uncertain function
    @@ -26988,8 +26720,8 @@

    Calls at Positions

    - - + + @@ -27001,7 +26733,7 @@

    Calls at Positions

      -
    • c.1201C>T - Malignant Hyperthermia associated
      • +
    • c.152C>A - Uncertain function
    @@ -27012,20 +26744,22 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -27097,7 +26831,7 @@

    Calls at Positions

      -
    • c.1597C>T - Malignant Hyperthermia associated
      • +
    • c.251C>T - Uncertain function
    @@ -27108,8 +26842,8 @@

    Calls at Positions

    - - + + @@ -27121,7 +26855,7 @@

    Calls at Positions

      -
    • c.1598G>A - Uncertain function
      • +
    • c.418G>A - Normal function
    @@ -27132,8 +26866,8 @@

    Calls at Positions

    - - + + @@ -27145,7 +26879,7 @@

    Calls at Positions

      -
    • c.1654C>T - Malignant Hyperthermia associated
      • +
    • c.455C>A - Uncertain function
    @@ -27156,8 +26890,8 @@

    Calls at Positions

    - - + + @@ -27169,7 +26903,7 @@

    Calls at Positions

      -
    • c.1840C>T - Malignant Hyperthermia associated
      • +
    • c.463C>A - Malignant Hyperthermia associated
    @@ -27180,8 +26914,8 @@

    Calls at Positions

    - - + + @@ -27193,7 +26927,7 @@

    Calls at Positions

      -
    • c.1841G>T - Malignant Hyperthermia associated
      • +
    • c.467G>A - Uncertain function
    @@ -27204,8 +26938,32 @@

    Calls at Positions

    - - + + + + + + + + + + + + + + @@ -27217,7 +26975,7 @@

    Calls at Positions

      -
    • c.6487C>T - Malignant Hyperthermia associated
      • +
    • c.487C>T - Malignant Hyperthermia associated
    @@ -27228,8 +26986,8 @@

    Calls at Positions

    - - + + @@ -27241,7 +26999,9 @@

    Calls at Positions

      -
    • c.6488G>A - Malignant Hyperthermia associated
      • +
    • c.488G>A - Uncertain function
      • + +
    • c.488G>T - Malignant Hyperthermia associated
    @@ -27252,8 +27012,8 @@

    Calls at Positions

    - - + + @@ -27265,7 +27025,7 @@

    Calls at Positions

      -
    • c.6502G>A - Malignant Hyperthermia associated
      • +
    • c.493G>A - Uncertain function
    @@ -27276,22 +27036,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -27363,7 +27121,7 @@

    Calls at Positions

      -
    • c.7048G>A - Malignant Hyperthermia associated
      • +
    • c.528G>T - Uncertain function
    @@ -27374,8 +27132,8 @@

    Calls at Positions

    - - + + @@ -27387,7 +27145,7 @@

    Calls at Positions

      -
    • c.7063C>T - Malignant Hyperthermia associated
      • +
    • c.529C>T - Malignant Hyperthermia associated
    @@ -27398,20 +27156,22 @@

    Calls at Positions

    - - + + - + - - + + @@ -27435,7 +27195,7 @@

    Calls at Positions

      -
    • c.7282G>A - Malignant Hyperthermia associated
      • +
    • c.625G>A - Uncertain function
    @@ -27446,20 +27206,20 @@

    Calls at Positions

    - - + + - + - - + + @@ -27483,7 +27243,7 @@

    Calls at Positions

      -
    • c.7304G>A - Malignant Hyperthermia associated
      • +
    • c.652G>A - Uncertain function
    @@ -27494,20 +27254,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + @@ -27555,7 +27315,9 @@

    Calls at Positions

      -
    • c.7361G>A - Malignant Hyperthermia associated
      • +
    • c.742G>A - Malignant Hyperthermia associated
      • + +
    • c.742G>C - Malignant Hyperthermia associated
    @@ -27566,8 +27328,8 @@

    Calls at Positions

    - - + + @@ -27579,7 +27341,7 @@

    Calls at Positions

      -
    • c.7372C>T - Malignant Hyperthermia associated
      • +
    • c.946C>T - Uncertain function
    @@ -27590,8 +27352,8 @@

    Calls at Positions

    - - + + @@ -27603,7 +27365,7 @@

    Calls at Positions

      -
    • c.7373G>A - Malignant Hyperthermia associated
      • +
    • c.947G>T - Uncertain function
    @@ -27614,8 +27376,8 @@

    Calls at Positions

    - - + + @@ -27627,9 +27389,7 @@

    Calls at Positions

      -
    • c.7522C>G - Malignant Hyperthermia associated
      • - -
    • c.7522C>T - Malignant Hyperthermia associated
      • +
    • c.982C>T - Malignant Hyperthermia associated
    @@ -27640,20 +27400,20 @@

    Calls at Positions

    - - + + - + - - + + @@ -27677,7 +27437,9 @@

    Calls at Positions

      -
    • c.9310G>A - Malignant Hyperthermia associated
      • +
    • c.1021G>A - Malignant Hyperthermia associated
      • + +
    • c.1021G>C - Malignant Hyperthermia associated
    @@ -27688,8 +27450,8 @@

    Calls at Positions

    - - + + @@ -27701,7 +27463,7 @@

    Calls at Positions

      -
    • c.11969G>T - Malignant Hyperthermia associated
      • +
    • c.1024G>A - Uncertain function
    @@ -27712,20 +27474,22 @@

    Calls at Positions

    - - + + - + - - + + @@ -27749,7 +27513,7 @@

    Calls at Positions

      -
    • c.14477C>T - Malignant Hyperthermia associated
      • +
    • c.1144C>A - Uncertain function
    @@ -27760,8 +27524,8 @@

    Calls at Positions

    - - + + @@ -27773,7 +27537,11 @@

    Calls at Positions

      -
    • c.14497C>T - Malignant Hyperthermia associated
      • +
    • c.1201C>A - Uncertain function
      • + +
    • c.1201C>G - Uncertain function
      • + +
    • c.1201C>T - Malignant Hyperthermia associated
    @@ -27784,20 +27552,22 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -27845,7 +33863,7 @@

    Calls at Positions

      -
    • c.14582G>A - Uncertain function
      • +
    • c.14803G>A - Malignant Hyperthermia associated
    @@ -27856,8 +33874,128 @@

    Calls at Positions

    - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -27869,7 +34007,103 @@

    Calls at Positions

      -
    • c.14693T>C - Malignant Hyperthermia associated
      • +
    • c.14879T>A - Uncertain function
      • + +
    + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - @@ -2756,7 +2756,7 @@

    Other Considerations

    - @@ -2959,7 +2959,7 @@

    dapsone

    desflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -10664,7 +10398,7 @@

    succinylcholine

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -10676,7 +10410,7 @@

    succinylcholine

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    chr7:99758228rs1584538410 T/T
    chr19:38440802rs193922747chr19:38433867rs193922744 T/T
    chr19:38440829rs193922748chr19:38440747rs193922745C/CCGAT/CGAT - C + CGAT
      -
    • c.130C>T - Malignant Hyperthermia associated
      • +
    • c.51_53del - Uncertain function
    @@ -26864,20 +26600,20 @@

    Calls at Positions

    chr19:38444211rs118192161chr19:38440796rs193922746C/CA/A - C + A
      -
    • c.487C>T - Malignant Hyperthermia associated
      • +
    • c.97A>G - Malignant Hyperthermia associated
    @@ -26888,20 +26624,20 @@

    Calls at Positions

    chr19:38444212rs193922753chr19:38440802rs193922747G/GT/T - G + T
      -
    • c.488G>T - Malignant Hyperthermia associated
      • +
    • c.103T>C - Malignant Hyperthermia associated
    @@ -26912,8 +26648,8 @@

    Calls at Positions

    chr19:38446710rs1801086chr19:38440818 G/G
    chr19:38448673rs193922762chr19:38440829rs193922748 C/C
    chr19:38448712rs121918592chr19:38440830rs139161723 G/G
    chr19:38451842rs193922764chr19:38440851rs193922749 C/C
    chr19:38451850rs118192116chr19:38442361rs118192160C/CG/G - C + G
      -
    • c.1209C>G - Malignant Hyperthermia associated
      • +
    • c.178G>A - Uncertain function
      • + +
    • c.178G>T - Uncertain function
    @@ -27036,20 +26770,20 @@

    Calls at Positions

    chr19:38455359rs118192162chr19:38442373rs995399438A/AT/T - A + T
      -
    • c.1565A>C - Malignant Hyperthermia associated
      • +
    • c.190T>C - Uncertain function
    @@ -27060,20 +26794,20 @@

    Calls at Positions

    chr19:38455463rs111888148chr19:38442395rs118192113G/GC/C - G + C
      -
    • c.1589G>A - Malignant Hyperthermia associated
      • +
    • c.212C>A - Uncertain function
    @@ -27084,8 +26818,8 @@

    Calls at Positions

    chr19:38455471rs193922768chr19:38442434rs186983396 C/C
    chr19:38455472rs144336148chr19:38443790rs142474192 G/G
    chr19:38455528rs193922770chr19:38444179 C/C
    chr19:38457545rs118192172chr19:38444187rs193922750 C/C
    chr19:38457546rs193922772chr19:38444191rs193922751 G/G
    chr19:38494564rs118192175chr19:38444203rs193922752A/A + A + + +
      + +
    • c.479A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38444211rs118192161 C/C
    chr19:38494565rs118192163chr19:38444212rs193922753 G/G
    chr19:38494579rs118192176chr19:38444217rs193922754 G/G
    chr19:38496283rs118192177chr19:38444220rs193922755C/CG/G - C + G
      -
    • c.6617C>G - Malignant Hyperthermia associated
      • - -
    • c.6617C>T - Malignant Hyperthermia associated
      • +
    • c.496G>A - Uncertain function
    @@ -27302,20 +27060,20 @@

    Calls at Positions

    chr19:38499223rs112563513chr19:38444221rs193922756G/GA/A - G + A
      -
    • c.7007G>A - Malignant Hyperthermia associated
      • +
    • c.497A>G - Uncertain function
    @@ -27326,20 +27084,20 @@

    Calls at Positions

    chr19:38499644rs121918596chr19:38444250rs761616815TGGA/TGGAG/G - TGGA + G
      -
    • c.7042_7044delGAG - Malignant Hyperthermia associated
      • +
    • c.526G>A - Uncertain function
    @@ -27350,8 +27108,8 @@

    Calls at Positions

    chr19:38499655rs193922802chr19:38444252 G/G
    chr19:38499670rs193922803chr19:38444253rs193922757 C/C
    chr19:38499731rs193922807chr19:38444257G/GA/A - G + A
      -
    • c.7124G>C - Malignant Hyperthermia associated
      • +
    • c.533A>C - Uncertain function
      • + +
    • c.533A>G - Malignant Hyperthermia associated
    @@ -27422,8 +27182,8 @@

    Calls at Positions

    chr19:38499975rs193922809chr19:38444671rs771058055 G/G
    chr19:38499993rs121918593chr19:38446481rs727504129G/GC/C - G + C
      -
    • c.7300G>A - Malignant Hyperthermia associated
      • +
    • c.641C>T - Uncertain function
    @@ -27470,8 +27230,8 @@

    Calls at Positions

    chr19:38499997rs28933396chr19:38446492rs193922759 G/G
    chr19:38500636rs118192124chr19:38446517rs112596687C/CT/T - C + T
      -
    • c.7354C>T - Malignant Hyperthermia associated
      • +
    • c.677T>A - Uncertain function
    @@ -27518,20 +27278,20 @@

    Calls at Positions

    chr19:38500642rs193922816chr19:38446520rs193922760C/CA/A - C + A
      -
    • c.7360C>T - Malignant Hyperthermia associated
      • +
    • c.680A>T - Uncertain function
    @@ -27542,8 +27302,8 @@

    Calls at Positions

    chr19:38500643rs118192122chr19:38446710rs1801086 G/G
    chr19:38500654rs28933397chr19:38448500rs752652072 C/C
    chr19:38500655rs121918594chr19:38448501rs193922761 G/G
    chr19:38500898rs118192178chr19:38448673rs193922762 C/C
    chr19:38500899rs193922818chr19:38448680G/GT/T - G + T
      -
    • c.7523G>A - Malignant Hyperthermia associated
      • +
    • c.992_994dup - Uncertain function
    @@ -27664,8 +27424,8 @@

    Calls at Positions

    chr19:38512321rs193922832chr19:38448712rs121918592 G/G
    chr19:38543832rs193922843chr19:38448715 G/G
    chr19:38580004rs118192167chr19:38448791rs113332073A/AG/G - A + G
      -
    • c.14387A>G - Malignant Hyperthermia associated
      • +
    • c.1100G>A - Uncertain function
      • + +
    • c.1100G>T - Uncertain function
    @@ -27736,8 +27500,8 @@

    Calls at Positions

    chr19:38580094rs121918595chr19:38451785 C/C
    chr19:38580114rs193922876chr19:38451842rs193922764 C/C
    chr19:38580370rs193922878chr19:38451843rs193922766C/CG/G - C + G
      -
    • c.14512C>G - Malignant Hyperthermia associated
      • +
    • c.1202G>A - Malignant Hyperthermia associated
      • + +
    • c.1202G>T - Malignant Hyperthermia associated
    @@ -27808,20 +27578,20 @@

    Calls at Positions

    chr19:38580403rs118192168chr19:38451850rs118192116G/GC/C - G + C
      -
    • c.14545G>A - Malignant Hyperthermia associated
      • +
    • c.1209C>G - Uncertain function
    @@ -27832,8 +27602,6256 @@

    Calls at Positions

    chr19:38580440rs63749869chr19:38452985C/C + C + + +
      + +
    • c.1411C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38452996rs193922767G/G + G + + +
      + +
    • c.1422G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38455247rs147723844A/A + A + + +
      + +
    • c.1453A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38455253C/C + C + + +
      + +
    • c.1459C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38455254T/T + T + + +
      + +
    • c.1460T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38455269rs901087791G/G + G + + +
      + +
    • c.1475G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38455347T/T + T + + +
      + +
    • c.1553T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38455359rs118192162A/A + A + + +
      + +
    • c.1565A>C - Malignant Hyperthermia associated
      • + +
    • c.1565A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455463rs111888148G/G + G + + +
      + +
    • c.1589G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455471rs193922768C/C + C + + +
      + +
    • c.1597C>A - Uncertain function
      • + +
    • c.1597C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455472rs144336148G/G + G + + +
      + +
    • c.1598G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38455489rs193922769T/T + T + + +
      + +
    • c.1615T>C - Malignant Hyperthermia associated
      • + +
    • c.1615T>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455504G/G + G + + +
      + +
    • c.1630G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455528rs193922770C/C + C + + +
      + +
    • c.1654C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38457539rs118204423G/G + G + + +
      + +
    • c.1834G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38457545rs118192172C/C + C + + +
      + +
    • c.1840C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38457546rs193922772G/G + G + + +
      + +
    • c.1841G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38458175rs747177274G/G + G + + +
      + +
    • c.2050G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38458247rs138874610G/G + G + + +
      + +
    • c.2122G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38460461rs376149732C/C + C + + +
      + +
    • c.2447C>T - Normal function
      • + +
    + +     		+ +
    chr19:38460551rs193922775C/C + C + + +
      + +
    • c.2537C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38463499rs370634440G/G + G + + +
      + +
    • c.2654G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38464649rs148623597G/G + G + + +
      + +
    • c.2797G>A - Normal function
      • + +
    + +     		+ +
    chr19:38466144rs778241277G/G + G + + +
      + +
    • c.2924G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466216rs180714609G/G + G + + +
      + +
    • c.2996G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466315rs141942845G/G + G + + +
      + +
    • c.3095G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466347rs111272095C/C + C + + +
      + +
    • c.3127C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38466386rs2145447772G/G + G + + +
      + +
    • c.3166G>A - Uncertain function
      • + +
    • c.3166G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38466392G/G + G + + +
      + +
    • c.3172G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38467655rs749040743G/G + G + + +
      + +
    • c.3224G>A - Normal function
      • + +
    + +     		+ +
    chr19:38469002rs193922776C/C + C + + +
      + +
    • c.3418C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38469111rs549201486C/C + C + + +
      + +
    • c.3527C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38469404A/A + A + + +
      + +
    • c.3656A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38469415rs936513262G/G + G + + +
      + +
    • c.3667G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38473635rs34694816A/A + A + + +
      + +
    • c.4024A>G - Normal function
      • + +
    + +     		+ +
    chr19:38475335rs137933390A/A + A + + +
      + +
    • c.4178A>G - Normal function
      • + +
    + +     		+ +
    chr19:38477816rs145573319A/A + A + + +
      + +
    • c.4400A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38483293rs146429605A/A + A + + +
      + +
    • c.4711A>G - Normal function
      • + +
    + +     		+ +
    chr19:38483329rs754476250C/C + C + + +
      + +
    • c.4747C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38483345rs151029675C/C + C + + +
      + +
    • c.4763C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38483357rs193922777C/C + C + + +
      + +
    • c.4775C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38485679T/T + T + + +
      + +
    • c.5024T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38485688rs781104539A/A + A + + +
      + +
    • c.5033A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485691rs146504767G/G + G + + +
      + +
    • c.5036G>A - Normal function
      • + +
    + +     		+ +
    chr19:38485787rs754785770A/A + A + + +
      + +
    • c.5132A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485838rs193922781C/C + C + + +
      + +
    • c.5183C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38485841rs193922782T/T + T + + +
      + +
    • c.5186T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485972rs192863857C/C + C + + +
      + +
    • c.5317C>T - Normal function
      • + +
    + +     		+ +
    chr19:38485996rs372958050T/T + T + + +
      + +
    • c.5341T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38486015rs34934920C/C + C + + +
      + +
    • c.5360C>T - Normal function
      • + +
    + +     		+ +
    chr19:38486095A/A + A + + +
      + +
    • c.5440A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38486096rs193922783T/T + T + + +
      + +
    • c.5441T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38490151rs145801146C/C + C + + +
      + +
    • c.5890C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38490642A/A + A + + +
      + +
    • c.6037A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38492540rs35364374G/G + G + + +
      + +
    • c.6178G>T - Normal function
      • + +
    + +     		+ +
    chr19:38494379rs746818096T/T + T + + +
      + +
    • c.6302T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494381rs770593660G/G + G + + +
      + +
    • c.6304G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38494426rs193922788G/G + G + + +
      + +
    • c.6349G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494454G/G + G + + +
      + +
    • c.6377G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494464rs117886618C/C + C + + +
      + +
    • c.6387C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494465rs193922789G/G + G + + +
      + +
    • c.6388G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494555rs143398211G/G + G + + +
      + +
    • c.6478G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494564rs118192175C/C + C + + +
      + +
    • c.6487C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494565rs118192163G/G + G + + +
      + +
    • c.6488G>A - Malignant Hyperthermia associated
      • + +
    • c.6488G>C - Malignant Hyperthermia associated
      • + +
    • c.6488G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494579rs118192176G/G + G + + +
      + +
    • c.6502G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494621rs193922790A/A + A + + +
      + +
    • c.6544A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38494625rs959170123G/G + G + + +
      + +
    • c.6548G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496265rs193922791C/C + C + + +
      + +
    • c.6599C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496278rs141646642C/C + C + + +
      + +
    • c.6612C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496283rs118192177C/C + C + + +
      + +
    • c.6617C>G - Malignant Hyperthermia associated
      • + +
    • c.6617C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496294rs193922792G/G + G + + +
      + +
    • c.6628G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496301rs193922793T/T + T + + +
      + +
    • c.6635T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496306rs193922795G/G + G + + +
      + +
    • c.6640G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496415rs199870223C/C + C + + +
      + +
    • c.6670C>T - Normal function
      • + +
    + +     		+ +
    chr19:38496416rs537994744G/G + G + + +
      + +
    • c.6671G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496455G/G + G + + +
      + +
    • c.6710G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496487rs763352221C/C + C + + +
      + +
    • c.6742C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496488rs140152019G/G + G + + +
      + +
    • c.6743G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496502rs917523269C/C + C + + +
      + +
    • c.6757C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496901rs193922797G/G + G + + +
      + +
    • c.6838G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496910rs118192121A/A + A + + +
      + +
    • c.6847A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499177rs34390345A/A + A + + +
      + +
    • c.6961A>G - Normal function
      • + +
    + +     		+ +
    chr19:38499223rs112563513G/G + G + + +
      + +
    • c.7007G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499234T/T + T + + +
      + +
    • c.7018T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499241rs147213895A/A + A + + +
      + +
    • c.7025A>G - Normal function
      • + +
    + +     		+ +
    chr19:38499639rs193922798G/G + G + + +
      + +
    • c.7032G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499642C/C + C + + +
      + +
    • c.7035C>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499643rs193922799G/G + G + + +
      + +
    • c.7036G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499644rs121918596TGGA/TGGA + TGGA + + +
      + +
    • c.7042_7044delGAG - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499650rs193922801A/A + A + + +
      + +
    • c.7043A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499655rs193922802G/G + G + + +
      + +
    • c.7048G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499667G/G + G + + +
      + +
    • c.7060G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499670rs193922803C/C + C + + +
      + +
    • c.7063C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499680T/T + T + + +
      + +
    • c.7073T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499682rs769482889C/C + C + + +
      + +
    • c.7075C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38499683G/G + G + + +
      + +
    • c.7076G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499691rs762401851G/G + G + + +
      + +
    • c.7084G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499692rs193922804A/A + A + + +
      + +
    • c.7085A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499696C/C + C + + +
      + +
    • c.7089C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499697rs193922805T/T + T + + +
      + +
    • c.7090T>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499704rs193922806C/C + C + + +
      + +
    • c.7097C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499706rs146306934G/G + G + + +
      + +
    • c.7099G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499719A/A + A + + +
      + +
    • c.7112A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499730G/G + G + + +
      + +
    • c.7123G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499731rs193922807G/G + G + + +
      + +
    • c.7124G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499806rs976108591A/A + A + + +
      + +
    • c.7199A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499817rs111364296G/G + G + + +
      + +
    • c.7210G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499975rs193922809G/G + G + + +
      + +
    • c.7282G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499984rs193922810G/G + G + + +
      + +
    • c.7291G>A - Malignant Hyperthermia associated
      • + +
    • c.7291G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499985A/A + A + + +
      + +
    • c.7292A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38499993rs121918593G/G + G + + +
      + +
    • c.7300G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499997rs28933396G/G + G + + +
      + +
    • c.7304G>A - Malignant Hyperthermia associated
      • + +
    • c.7304G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500000G/G + G + + +
      + +
    • c.7307G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38500003rs193922812C/C + C + + +
      + +
    • c.7310C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500010rs193922813G/G + G + + +
      + +
    • c.7317G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38500636rs118192124C/C + C + + +
      + +
    • c.7354C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500637rs193922815G/G + G + + +
      + +
    • c.7355G>A - Uncertain function
      • + +
    • c.7355G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38500640rs118192123T/T + T + + +
      + +
    • c.7358T>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500642rs193922816C/C + C + + +
      + +
    • c.7360C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500643rs118192122G/G + G + + +
      + +
    • c.7361G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500654rs28933397C/C + C + + +
      + +
    • c.7372C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500655rs121918594G/G + G + + +
      + +
    • c.7373G>A - Malignant Hyperthermia associated
      • + +
    • c.7373G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500667rs551223467C/C + C + + +
      + +
    • c.7385C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38500863rs193922817C/C + C + + +
      + +
    • c.7487C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38500898rs118192178C/C + C + + +
      + +
    • c.7522C>G - Uncertain function
      • + +
    • c.7522C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500899rs193922818G/G + G + + +
      + +
    • c.7523G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500904rs193922819T/T + T + + +
      + +
    • c.7528T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38502652rs767553612A/A + A + + +
      + +
    • c.7760A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38502663rs193922822C/C + C + + +
      + +
    • c.7771C>G - Uncertain function
      • + +
    • c.7771C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38502669C/C + C + + +
      + +
    • c.7777C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38502670rs751180702G/G + G + + +
      + +
    • c.7778G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38502679rs193922824C/C + C + + +
      + +
    • c.7787C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38502708rs748575133T/T + T + + +
      + +
    • c.7816T>A - Normal function
      • + +
    + +     		+ +
    chr19:38502923rs914804033G/G + G + + +
      + +
    • c.7879G>A - Uncertain function
      • + +
    • c.7879G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38504298G/G + G + + +
      + +
    • c.8005G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38504319rs193922826C/C + C + + +
      + +
    • c.8026C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38504347rs781126470C/C + C + + +
      + +
    • c.8054C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38504868rs193922827G/G + G + + +
      + +
    • c.8188G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38504869rs112196644A/A + A + + +
      + +
    • c.8189A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38504878rs193922828G/G + G + + +
      + +
    • c.8198G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38505061rs193922829G/G + G + + +
      + +
    • c.8290G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38505325rs147707463C/C + C + + +
      + +
    • c.8327C>T - Normal function
      • + +
    + +     		+ +
    chr19:38505358rs35180584C/C + C + + +
      + +
    • c.8360C>G - Normal function
      • + +
    + +     		+ +
    chr19:38505923rs193922830C/C + C + + +
      + +
    • c.8518C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38505932rs768535909T/T + T + + +
      + +
    • c.8527T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38506361rs193922831T/T + T + + +
      + +
    • c.8600T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38506492rs112772310G/G + G + + +
      + +
    • c.8638G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38506508C/C + C + + +
      + +
    • c.8654C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38506865C/C + C + + +
      + +
    • c.8729C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38507821C/C + C + + +
      + +
    • c.8926C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38511590rs147303895G/G + G + + +
      + +
    • c.9152G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38512279G/G + G + + +
      + +
    • c.9268G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38512321rs193922832G/G + G + + +
      + +
    • c.9310G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38512367rs193922833G/G + G + + +
      + +
    • c.9356G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38515052C/C + C + + +
      + +
    • c.9499C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38516167rs199738299A/A + A + + +
      + +
    • c.9635A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38516181T/T + T + + +
      + +
    • c.9649T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38516184rs553055844G/G + G + + +
      + +
    • c.9652G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38516208G/G + G + + +
      + +
    • c.9676G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517431rs375626634T/T + T + + +
      + +
    • c.9758T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517470T/T + T + + +
      + +
    • c.9797T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517521rs757753317G/G + G + + +
      + +
    • c.9848G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38517523T/T + T + + +
      + +
    • c.9850T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38517541rs112151058G/G + G + + +
      + +
    • c.9868G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519237rs118204421C/C + C + + +
      + +
    • c.10042C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38519238rs193922834G/G + G + + +
      + +
    • c.10043G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519292rs137932199G/G + G + + +
      + +
    • c.10097G>A - Normal function
      • + +
    + +     		+ +
    chr19:38519295rs118192126A/A + A + + +
      + +
    • c.10100A>G - Normal function
      • + +
    + +     		+ +
    chr19:38519424C/C + C + + +
      + +
    • c.10229C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519432A/A + A + + +
      + +
    • c.10237A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38519447A/A + A + + +
      + +
    • c.10252A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38525432C/C + C + + +
      + +
    • c.10556C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38525492rs143987857G/G + G + + +
      + +
    • c.10616G>A - Normal function
      • + +
    + +     		+ +
    chr19:38527707rs55876273G/G + G + + +
      + +
    • c.10747G>C - Normal function
      • + +
    + +     		+ +
    chr19:38527710G/G + G + + +
      + +
    • c.10750G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38528372G/G + G + + +
      + +
    • c.10891G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529002G/G + G + + +
      + +
    • c.11086G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38529036rs193922838G/G + G + + +
      + +
    • c.11120G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529042C/C + C + + +
      + +
    • c.11126C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529048rs375915752C/C + C + + +
      + +
    • c.11132C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38534726rs4802584C/C + C + + +
      + +
    • c.11266C>G - Normal function
      • + +
    + +     		+ +
    chr19:38534774rs763112609C/C + C + + +
      + +
    • c.11314C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38534775rs193922839G/G + G + + +
      + +
    • c.11315G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38535197rs111565359G/G + G + + +
      + +
    • c.11416G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38535998rs140616359G/G + G + + +
      + +
    • c.11518G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38543365rs148399313G/G + G + + +
      + +
    • c.11708G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38543380A/A + A + + +
      + +
    • c.11723A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38543405rs193922840T/T + T + + +
      + +
    • c.11748T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38543551rs147136339A/A + A + + +
      + +
    • c.11798A>G - Normal function
      • + +
    + +     		+ +
    chr19:38543566G/G + G + + +
      + +
    • c.11813G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38543810C/C + C + + +
      + +
    • c.11947C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38543816rs118204422T/T + T + + +
      + +
    • c.11953T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38543821rs193922842C/C + C + + +
      + +
    • c.11958C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38543832rs193922843G/G + G + + +
      + +
    • c.11969G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38546460rs755088027G/G + G + + +
      + +
    • c.12028G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38546496rs773040531A/A + A + + +
      + +
    • c.12064A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38548253A/A + A + + +
      + +
    • c.12115A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38548259rs144685735C/C + C + + +
      + +
    • c.12121C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38548287rs193922844C/C + C + + +
      + +
    • c.12149C>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38548380rs373406011C/C + C + + +
      + +
    • c.12242C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561140G/G + G + + +
      + +
    • c.12310G>C - Normal function
      • + +
    + +     		+ +
    chr19:38561185rs193922848A/A + A + + +
      + +
    • c.12355A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561213C/C + C + + +
      + +
    • c.12383C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561228rs201321695A/A + A + + +
      + +
    • c.12398A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38561236rs193922849C/C + C + + +
      + +
    • c.12406C>A - Normal function
      • + +
    + +     		+ +
    chr19:38561243rs193922850T/T + T + + +
      + +
    • c.12413T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38561362G/G + G + + +
      + +
    • c.12532G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38561363G/G + G + + +
      + +
    • c.12533G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561383rs151119428G/G + G + + +
      + +
    • c.12553G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38565023T/T + T + + +
      + +
    • c.12689T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38565034rs193922852G/G + G + + +
      + +
    • c.12700G>C - Malignant Hyperthermia associated
      • + +
    • c.12700G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38565182rs193922853A/A + A + + +
      + +
    • c.12848A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38565215rs587784372C/C + C + + +
      + +
    • c.12881C>T - Normal function
      • + +
    + +     		+ +
    chr19:38565218rs193922855C/C + C + + +
      + +
    • c.12884C>T - Normal function
      • + +
    + +     		+ +
    chr19:38566978rs139647387A/A + A + + +
      + +
    • c.13505A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38566986rs150396398G/G + G + + +
      + +
    • c.13513G>C - Normal function
      • + +
    + +     		+ +
    chr19:38570619rs771741606C/C + C + + +
      + +
    • c.13672C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38570620rs118192130G/G + G + + +
      + +
    • c.13673G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38570649C/C + C + + +
      + +
    • c.13702C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38572032rs143520367C/C + C + + +
      + +
    • c.13760C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38572185rs118192135G/G + G + + +
      + +
    • c.13913G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38572190rs756850145A/A + A + + +
      + +
    • c.13918A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38572206rs193922860G/G + G + + +
      + +
    • c.13934G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38572262rs759500310T/T + T + + +
      + +
    • c.13990T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38572266rs193922862TC/TC + TC + + +
      + +
    • c.13994_13995delTCinsCT - Uncertain function
      • + +
    + +     		+ +
    chr19:38573180rs193922863C/C + C + + +
      + +
    • c.14002C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38573229rs193922864T/T + T + + +
      + +
    • c.14051T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38573304rs118192140C/C + C + + +
      + +
    • c.14126C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38575957rs200766617G/G + G + + +
      + +
    • c.14168G>A - Normal function
      • + +
    + +     		+ +
    chr19:38577931A/A + A + + +
      + +
    • c.14186A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38577942rs193922865T/T + T + + +
      + +
    • c.14197T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38577946rs193922866G/G + G + + +
      + +
    • c.14201G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38577954rs193922867C/C + C + + +
      + +
    • c.14209C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38577955rs193922868G/G + G + + +
      + +
    • c.14210G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38578015rs768360593G/G + G + + +
      + +
    • c.14270G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38578205G/G + G + + +
      + +
    • c.14364+1G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580004rs118192167A/A + A + + +
      + +
    • c.14387A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580039TT/TT + TT + + +
      + +
    • c.14422_14423delinsAA - Uncertain function
      • + +
    + +     		+ +
    chr19:38580041C/C + C + + +
      + +
    • c.14424C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580066rs143988412A/A + A + + +
      + +
    • c.14449A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580075rs193922873G/G + G + + +
      + +
    • c.14458G>A - Uncertain function
      • + +
    • c.14458G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580088rs193922874T/T + T + + +
      + +
    • c.14471T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38580094rs121918595C/C + C + + +
      + +
    • c.14477C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580114rs193922876C/C + C + + +
      + +
    • c.14497C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580126C/C + C + + +
      + +
    • c.14509C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580370rs193922878C/C + C + + +
      + +
    • c.14512C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580382rs193922879G/G + G + + +
      + +
    • c.14524G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580397G/G + G + + +
      + +
    • c.14539G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580403rs118192168G/G + G + + +
      + +
    • c.14545G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580416C/C + C + + +
      + +
    • c.14558C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580425rs193922880C/C + C + + +
      + +
    • c.14567C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580439rs118192181C/C + C + + +
      + +
    • c.14581C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580440rs63749869G/G + G + + +
      + +
    • c.14582G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580485rs113210953A/A + A + + +
      + +
    • c.14627A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580497rs193922883T/T + T + + +
      + +
    • c.14639T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38584974rs118192151G/G + G + + +
      + +
    • c.14678G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38584976rs193922888G/G + G + + +
      + +
    • c.14680G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38584989rs118192170T/T + T + + +
      + +
    • c.14693T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38585078A/A + A + + +
      + +
    • c.14782A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38585099 G/G
    chr19:38584989rs118192170chr19:38585947rs111657878T/T + T + + +
      + +
    • c.14813T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38585948rs118192159C/C + C + + +
      + +
    • c.14814C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38585951rs193922895C/C + C + + +
      + +
    • c.14817C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38585952rs118192158G/G + G + + +
      + +
    • c.14818G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38585959rs193922896G/G + G + + +
      + +
    • c.14825G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38586101rs193922898 T/T + +
    chr19:38586140rs146876145C/C + C + + +
      + +
    • c.14918C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38586190A/A + A + + +
      + +
    • c.14968A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38587362G/G + G + + +
      + +
    • c.15059G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38587363G/G + G + + +
      + +
    • c.15060G>C - Uncertain function
    diff --git a/docs/examples/pharmcat.example.report.json b/docs/examples/pharmcat.example.report.json index 2379caefb..a7130418c 100644 --- a/docs/examples/pharmcat.example.report.json +++ b/docs/examples/pharmcat.example.report.json @@ -1,15 +1,15 @@ { "title": "pharmcat.example", - "timestamp": "2023-10-22T19:01:29.230Z", - "pharmcatVersion": "v2.8.2-6-g5d86ea92", - "cpicVersion": "v1.32.0", - "dpwgVersion": "2023-10-05-00-25", + "timestamp": "2023-12-19T20:39:34.640Z", + "pharmcatVersion": "v2.8.3-13-g5cb67175", + "cpicVersion": "v1.35.0-2-gf40f6f6", + "dpwgVersion": "2023-12-19-10-38", "genes": { "CPIC": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "ABCG2", "chr": "chr4", @@ -117,9 +117,9 @@ "treatUndocumentedVariationsAsReference": false }, "CACNA1S": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CACNA1S", "chr": "chr1", @@ -273,9 +273,9 @@ "treatUndocumentedVariationsAsReference": false }, "CFTR": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CFTR", "chr": "chr7", @@ -915,9 +915,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -1721,9 +1721,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -2421,9 +2421,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -3709,7 +3709,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2D6", "chr": null, @@ -3886,9 +3886,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -4075,7 +4075,7 @@ "treatUndocumentedVariationsAsReference": false }, "CYP4F2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -4355,9 +4355,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "DPYD", "chr": "chr1", @@ -5688,9 +5688,9 @@ "treatUndocumentedVariationsAsReference": false }, "G6PD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "G6PD", "chr": "chrX", @@ -8527,9 +8527,9 @@ "treatUndocumentedVariationsAsReference": false }, "IFNL3": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "IFNL3", "chr": "chr19", @@ -8663,7 +8663,7 @@ "MT-RNR1": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "MT-RNR1", "chr": null, @@ -8784,9 +8784,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "NUDT15", "chr": "chr13", @@ -9137,9 +9137,9 @@ "treatUndocumentedVariationsAsReference": false }, "RYR1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "RYR1", "chr": "chr19", @@ -9148,6 +9148,29 @@ "callSource": "MATCHER", "uncalledHaplotypes": [], "messages": [ + { + "rule_name": "Malignant Hyperthermia Susceptibility warning", + "version": "2", + "matches": { + "gene": "RYR1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "desflurane", + "enflurane", + "halothane", + "isoflurane", + "methoxyflurane", + "sevoflurane", + "succinylcholine" + ] + }, + "exception_type": "note", + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " + }, { "rule_name": "reference-allele", "version": null, @@ -9259,6 +9282,48 @@ } ], "variants": [ + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38433867, + "dbSnpId": "rs193922744", + "call": "T/T", + "alleles": [ + "c.38T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440747, + "dbSnpId": "rs193922745", + "call": "CGAT/CGAT", + "alleles": [ + "c.51_53del" + ], + "phased": false, + "wildtypeAllele": "CGAT", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440796, + "dbSnpId": "rs193922746", + "call": "A/A", + "alleles": [ + "c.97A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9273,6 +9338,20 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440818, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.119G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9287,6 +9366,161 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440830, + "dbSnpId": "rs139161723", + "call": "G/G", + "alleles": [ + "c.131G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440851, + "dbSnpId": "rs193922749", + "call": "C/C", + "alleles": [ + "c.152C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442361, + "dbSnpId": "rs118192160", + "call": "G/G", + "alleles": [ + "c.178G>A", + "c.178G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442373, + "dbSnpId": "rs995399438", + "call": "T/T", + "alleles": [ + "c.190T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442395, + "dbSnpId": "rs118192113", + "call": "C/C", + "alleles": [ + "c.212C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442434, + "dbSnpId": "rs186983396", + "call": "C/C", + "alleles": [ + "c.251C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38443790, + "dbSnpId": "rs142474192", + "call": "G/G", + "alleles": [ + "c.418G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444179, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.455C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444187, + "dbSnpId": "rs193922750", + "call": "C/C", + "alleles": [ + "c.463C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444191, + "dbSnpId": "rs193922751", + "call": "G/G", + "alleles": [ + "c.467G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444203, + "dbSnpId": "rs193922752", + "call": "A/A", + "alleles": [ + "c.479A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9308,6 +9542,7 @@ "dbSnpId": "rs193922753", "call": "G/G", "alleles": [ + "c.488G>A", "c.488G>T" ], "phased": false, @@ -9318,12 +9553,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38446710, - "dbSnpId": "rs1801086", + "position": 38444217, + "dbSnpId": "rs193922754", "call": "G/G", "alleles": [ - "c.742G>A", - "c.742G>C" + "c.493G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9333,26 +9567,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38448673, - "dbSnpId": "rs193922762", - "call": "C/C", + "position": 38444220, + "dbSnpId": "rs193922755", + "call": "G/G", "alleles": [ - "c.982C>T" + "c.496G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38448712, - "dbSnpId": "rs121918592", + "position": 38444221, + "dbSnpId": "rs193922756", + "call": "A/A", + "alleles": [ + "c.497A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444250, + "dbSnpId": "rs761616815", "call": "G/G", "alleles": [ - "c.1021G>A", - "c.1021G>C" + "c.526G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9362,25 +9609,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451842, - "dbSnpId": "rs193922764", - "call": "C/C", + "position": 38444252, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.1201C>T" + "c.528G>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38451850, - "dbSnpId": "rs118192116", + "position": 38444253, + "dbSnpId": "rs193922757", "call": "C/C", "alleles": [ - "c.1209C>G" + "c.529C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9390,11 +9637,12 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455359, - "dbSnpId": "rs118192162", + "position": 38444257, + "dbSnpId": null, "call": "A/A", "alleles": [ - "c.1565A>C" + "c.533A>C", + "c.533A>G" ], "phased": false, "wildtypeAllele": "A", @@ -9404,11 +9652,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455463, - "dbSnpId": "rs111888148", + "position": 38444671, + "dbSnpId": "rs771058055", "call": "G/G", "alleles": [ - "c.1589G>A" + "c.625G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9418,11 +9666,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455471, - "dbSnpId": "rs193922768", + "position": 38446481, + "dbSnpId": "rs727504129", "call": "C/C", "alleles": [ - "c.1597C>T" + "c.641C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9432,11 +9680,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455472, - "dbSnpId": "rs144336148", + "position": 38446492, + "dbSnpId": "rs193922759", "call": "G/G", "alleles": [ - "c.1598G>A" + "c.652G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9446,25 +9694,54 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455528, - "dbSnpId": "rs193922770", - "call": "C/C", + "position": 38446517, + "dbSnpId": "rs112596687", + "call": "T/T", "alleles": [ - "c.1654C>T" + "c.677T>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38457545, - "dbSnpId": "rs118192172", + "position": 38446520, + "dbSnpId": "rs193922760", + "call": "A/A", + "alleles": [ + "c.680A>T" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446710, + "dbSnpId": "rs1801086", + "call": "G/G", + "alleles": [ + "c.742G>A", + "c.742G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38448500, + "dbSnpId": "rs752652072", "call": "C/C", "alleles": [ - "c.1840C>T" + "c.946C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9474,11 +9751,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38457546, - "dbSnpId": "rs193922772", + "position": 38448501, + "dbSnpId": "rs193922761", "call": "G/G", "alleles": [ - "c.1841G>T" + "c.947G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9488,11 +9765,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494564, - "dbSnpId": "rs118192175", + "position": 38448673, + "dbSnpId": "rs193922762", "call": "C/C", "alleles": [ - "c.6487C>T" + "c.982C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9502,11 +9779,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494565, - "dbSnpId": "rs118192163", + "position": 38448680, + "dbSnpId": null, + "call": "T/T", + "alleles": [ + "c.992_994dup" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38448712, + "dbSnpId": "rs121918592", "call": "G/G", "alleles": [ - "c.6488G>A" + "c.1021G>A", + "c.1021G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9516,11 +9808,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494579, - "dbSnpId": "rs118192176", + "position": 38448715, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.6502G>A" + "c.1024G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9530,12 +9822,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38496283, - "dbSnpId": "rs118192177", + "position": 38448791, + "dbSnpId": "rs113332073", + "call": "G/G", + "alleles": [ + "c.1100G>A", + "c.1100G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38451785, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.6617C>G", - "c.6617C>T" + "c.1144C>A" ], "phased": false, "wildtypeAllele": "C", @@ -9545,11 +9851,28 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499223, - "dbSnpId": "rs112563513", + "position": 38451842, + "dbSnpId": "rs193922764", + "call": "C/C", + "alleles": [ + "c.1201C>A", + "c.1201C>G", + "c.1201C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38451843, + "dbSnpId": "rs193922766", "call": "G/G", "alleles": [ - "c.7007G>A" + "c.1202G>A", + "c.1202G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9559,25 +9882,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499644, - "dbSnpId": "rs121918596", - "call": "TGGA/TGGA", + "position": 38451850, + "dbSnpId": "rs118192116", + "call": "C/C", "alleles": [ - "c.7042_7044delGAG" + "c.1209C>G" ], "phased": false, - "wildtypeAllele": "TGGA", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499655, - "dbSnpId": "rs193922802", + "position": 38452985, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.1411C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38452996, + "dbSnpId": "rs193922767", "call": "G/G", "alleles": [ - "c.7048G>A" + "c.1422G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9587,11 +9924,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499670, - "dbSnpId": "rs193922803", + "position": 38455247, + "dbSnpId": "rs147723844", + "call": "A/A", + "alleles": [ + "c.1453A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455253, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.7063C>T" + "c.1459C>G" ], "phased": false, "wildtypeAllele": "C", @@ -9601,25 +9952,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499731, - "dbSnpId": "rs193922807", - "call": "G/G", + "position": 38455254, + "dbSnpId": null, + "call": "T/T", "alleles": [ - "c.7124G>C" + "c.1460T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499975, - "dbSnpId": "rs193922809", + "position": 38455269, + "dbSnpId": "rs901087791", "call": "G/G", "alleles": [ - "c.7282G>A" + "c.1475G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9629,25 +9980,40 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499993, - "dbSnpId": "rs121918593", - "call": "G/G", + "position": 38455347, + "dbSnpId": null, + "call": "T/T", "alleles": [ - "c.7300G>A" + "c.1553T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499997, - "dbSnpId": "rs28933396", + "position": 38455359, + "dbSnpId": "rs118192162", + "call": "A/A", + "alleles": [ + "c.1565A>C", + "c.1565A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455463, + "dbSnpId": "rs111888148", "call": "G/G", "alleles": [ - "c.7304G>A" + "c.1589G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9657,11 +10023,12 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500636, - "dbSnpId": "rs118192124", + "position": 38455471, + "dbSnpId": "rs193922768", "call": "C/C", "alleles": [ - "c.7354C>T" + "c.1597C>A", + "c.1597C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9671,25 +10038,40 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500642, - "dbSnpId": "rs193922816", - "call": "C/C", + "position": 38455472, + "dbSnpId": "rs144336148", + "call": "G/G", "alleles": [ - "c.7360C>T" + "c.1598G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500643, - "dbSnpId": "rs118192122", + "position": 38455489, + "dbSnpId": "rs193922769", + "call": "T/T", + "alleles": [ + "c.1615T>C", + "c.1615T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455504, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.7361G>A" + "c.1630G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9699,11 +10081,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500654, - "dbSnpId": "rs28933397", + "position": 38455528, + "dbSnpId": "rs193922770", "call": "C/C", "alleles": [ - "c.7372C>T" + "c.1654C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9713,11 +10095,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500655, - "dbSnpId": "rs121918594", + "position": 38457539, + "dbSnpId": "rs118204423", "call": "G/G", "alleles": [ - "c.7373G>A" + "c.1834G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9727,12 +10109,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500898, - "dbSnpId": "rs118192178", + "position": 38457545, + "dbSnpId": "rs118192172", "call": "C/C", "alleles": [ - "c.7522C>G", - "c.7522C>T" + "c.1840C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9742,11 +10123,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500899, - "dbSnpId": "rs193922818", + "position": 38457546, + "dbSnpId": "rs193922772", "call": "G/G", "alleles": [ - "c.7523G>A" + "c.1841G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9756,11 +10137,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38512321, - "dbSnpId": "rs193922832", + "position": 38458175, + "dbSnpId": "rs747177274", "call": "G/G", "alleles": [ - "c.9310G>A" + "c.2050G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9770,11 +10151,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38543832, - "dbSnpId": "rs193922843", + "position": 38458247, + "dbSnpId": "rs138874610", "call": "G/G", "alleles": [ - "c.11969G>T" + "c.2122G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9784,14 +10165,3135 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38580004, - "dbSnpId": "rs118192167", - "call": "A/A", + "position": 38460461, + "dbSnpId": "rs376149732", + "call": "C/C", "alleles": [ - "c.14387A>G" + "c.2447C>T" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38460551, + "dbSnpId": "rs193922775", + "call": "C/C", + "alleles": [ + "c.2537C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38463499, + "dbSnpId": "rs370634440", + "call": "G/G", + "alleles": [ + "c.2654G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38464649, + "dbSnpId": "rs148623597", + "call": "G/G", + "alleles": [ + "c.2797G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466144, + "dbSnpId": "rs778241277", + "call": "G/G", + "alleles": [ + "c.2924G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466216, + "dbSnpId": "rs180714609", + "call": "G/G", + "alleles": [ + "c.2996G>A" + ], + "phased": false, + "wildtypeAllele": "G", + 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"call": "A/A", + "alleles": [ + "c.14186A>C" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577942, + "dbSnpId": "rs193922865", + "call": "T/T", + "alleles": [ + "c.14197T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577946, + "dbSnpId": "rs193922866", + "call": "G/G", + "alleles": [ + "c.14201G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577954, + "dbSnpId": "rs193922867", + "call": "C/C", + "alleles": [ + "c.14209C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577955, + "dbSnpId": "rs193922868", + "call": "G/G", + "alleles": [ + "c.14210G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38578015, + "dbSnpId": "rs768360593", + "call": "G/G", + "alleles": [ + "c.14270G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38578205, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.14364+1G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580004, + "dbSnpId": "rs118192167", + "call": "A/A", + "alleles": [ + "c.14387A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580039, + "dbSnpId": null, + "call": "TT/TT", + "alleles": [ + "c.14422_14423delinsAA" + ], + "phased": false, + "wildtypeAllele": "TT", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580041, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.14424C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580066, + "dbSnpId": "rs143988412", + "call": "A/A", + "alleles": [ + "c.14449A>T" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580075, + "dbSnpId": "rs193922873", + "call": "G/G", + "alleles": [ + "c.14458G>A", + "c.14458G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580088, + "dbSnpId": "rs193922874", + "call": "T/T", + "alleles": [ + "c.14471T>C" + ], + "phased": false, + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, @@ -9823,6 +13325,20 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580126, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.14509C>G" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9837,6 +13353,34 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580382, + "dbSnpId": "rs193922879", + "call": "G/G", + "alleles": [ + "c.14524G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580397, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.14539G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9851,6 +13395,48 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580416, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.14558C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580425, + "dbSnpId": "rs193922880", + "call": "C/C", + "alleles": [ + "c.14567C>G" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580439, + "dbSnpId": "rs118192181", + "call": "C/C", + "alleles": [ + "c.14581C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9865,6 +13451,62 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580485, + "dbSnpId": "rs113210953", + "call": "A/A", + "alleles": [ + "c.14627A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580497, + "dbSnpId": "rs193922883", + "call": "T/T", + "alleles": [ + "c.14639T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38584974, + "dbSnpId": "rs118192151", + "call": "G/G", + "alleles": [ + "c.14678G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38584976, + "dbSnpId": "rs193922888", + "call": "G/G", + "alleles": [ + "c.14680G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9878,6 +13520,174 @@ "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585078, + "dbSnpId": null, + "call": "A/A", + "alleles": [ + "c.14782A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585099, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.14803G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585947, + "dbSnpId": "rs111657878", + "call": "T/T", + "alleles": [ + "c.14813T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585948, + "dbSnpId": "rs118192159", + "call": "C/C", + "alleles": [ + "c.14814C>G" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585951, + "dbSnpId": "rs193922895", + "call": "C/C", + "alleles": [ + "c.14817C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585952, + "dbSnpId": "rs118192158", + "call": "G/G", + "alleles": [ + "c.14818G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38585959, + "dbSnpId": "rs193922896", + "call": "G/G", + "alleles": [ + "c.14825G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586101, + "dbSnpId": "rs193922898", + "call": "T/T", + "alleles": [ + "c.14879T>A" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586140, + "dbSnpId": "rs146876145", + "call": "C/C", + "alleles": [ + "c.14918C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586190, + "dbSnpId": null, + "call": "A/A", + "alleles": [ + "c.14968A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38587362, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.15059G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38587363, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.15060G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] } ], "variantsOfInterest": [], @@ -9885,9 +13695,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -10514,9 +14324,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "TPMT", "chr": "chr6", @@ -11247,9 +15057,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -11428,7 +15238,7 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -11548,9 +15358,9 @@ }, "DPWG": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "ABCG2", "chr": "chr4", @@ -11658,9 +15468,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -12460,9 +16270,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -13144,9 +16954,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -14400,7 +18210,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2D6", "chr": null, @@ -14589,9 +18399,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A4": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A4", "chr": "chr7", @@ -14722,7 +18532,7 @@ "gene": "CYP3A4", "chromosome": "chr7", "position": 99758228, - "dbSnpId": null, + "dbSnpId": "rs1584538410", "call": "T/T", "alleles": [ "*46" @@ -15302,9 +19112,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -15491,9 +19301,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "DPYD", "chr": "chr1", @@ -16832,9 +20642,9 @@ "treatUndocumentedVariationsAsReference": false }, "F5": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "F5", "chr": "chr1", @@ -17262,9 +21072,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "NUDT15", "chr": "chr13", @@ -17615,9 +21425,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -18224,9 +22034,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "TPMT", "chr": "chr6", @@ -18957,9 +22767,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -19138,9 +22948,9 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "VKORC1", "chr": "chr16", @@ -19279,7 +23089,7 @@ "name": "abacavir", "id": "PA448004", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19326,7 +23136,7 @@ "id": "PA166104997", "name": "Annotation of CPIC Guideline for abacavir and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104997", "annotations": [ { @@ -19394,7 +23204,7 @@ "name": "allopurinol", "id": "PA448320", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19444,7 +23254,7 @@ "id": "PA166105003", "name": "Annotation of CPIC Guideline for allopurinol and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105003", "annotations": [ { @@ -19512,7 +23322,7 @@ "name": "amikacin", "id": "PA164744372", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19545,7 +23355,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -19603,7 +23413,7 @@ "name": "amitriptyline", "id": "PA448385", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19657,7 +23467,7 @@ "id": "PA166105006", "name": "Annotation of CPIC Guideline for amitriptyline and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105006", "annotations": [ { @@ -19755,7 +23565,7 @@ "name": "atazanavir", "id": "PA10251", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19792,7 +23602,7 @@ "id": "PA166128738", "name": "Annotation of CPIC Guideline for atazanavir and UGT1A1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166128738", "annotations": [ { @@ -19856,7 +23666,7 @@ "name": "atomoxetine", "id": "PA134688071", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19889,7 +23699,7 @@ "id": "PA166181885", "name": "Annotation of CPIC Guideline for atomoxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166181885", "annotations": [ { @@ -20006,7 +23816,7 @@ "name": "atorvastatin", "id": "PA448500", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -20072,7 +23882,7 @@ "id": "PA166262221", "name": "Annotation of CPIC Guideline for atorvastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262221", "annotations": [ { @@ -20136,7 +23946,7 @@ "name": "azathioprine", "id": "PA448515", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20212,7 +24022,7 @@ "id": "PA166104933", "name": "Annotation of CPIC Guideline for azathioprine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104933", "annotations": [ { @@ -20310,7 +24120,7 @@ "name": "capecitabine", "id": "PA448771", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -20378,7 +24188,7 @@ "id": "PA166109594", "name": "Annotation of CPIC Guideline for capecitabine and DPYD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166109594", "annotations": [ { @@ -20442,7 +24252,7 @@ "name": "carbamazepine", "id": "PA448785", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20496,7 +24306,7 @@ "id": "PA166105008", "name": "Annotation of CPIC Guideline for carbamazepine and HLA-A, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105008", "annotations": [ { @@ -20774,7 +24584,7 @@ "name": "celecoxib", "id": "PA448871", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20804,7 +24614,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -20868,7 +24678,7 @@ "name": "citalopram", "id": "PA449015", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20932,7 +24742,7 @@ "id": "PA166127638", "name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638", "annotations": [ { @@ -20996,7 +24806,7 @@ "name": "clomipramine", "id": "PA449048", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21050,7 +24860,7 @@ "id": "PA166105007", "name": "Annotation of CPIC Guideline for clomipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105007", "annotations": [ { @@ -21148,7 +24958,7 @@ "name": "clopidogrel", "id": "PA449053", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21223,7 +25033,7 @@ "id": "PA166104948", "name": "Annotation of CPIC Guideline for clopidogrel and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104948", "annotations": [ { @@ -21393,7 +25203,7 @@ "name": "codeine", "id": "PA449088", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21474,7 +25284,7 @@ "id": "PA166104996", "name": "Annotation of CPIC Guideline for codeine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104996", "annotations": [ { @@ -21538,7 +25348,7 @@ "name": "dapsone", "id": "PA449211", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -21640,7 +25450,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -21704,13 +25514,13 @@ "name": "desflurane", "id": "PA164749136", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -21727,12 +25537,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -21762,15 +25571,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -21811,36 +25620,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -21891,7 +25671,7 @@ "name": "desipramine", "id": "PA449233", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21945,7 +25725,7 @@ "id": "PA166105002", "name": "Annotation of CPIC Guideline for desipramine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105002", "annotations": [ { @@ -22009,7 +25789,7 @@ "name": "dexlansoprazole", "id": "PA166110257", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22050,7 +25830,7 @@ "id": "PA166219301", "name": "Annotation of CPIC Guideline for dexlansoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219301", "annotations": [ { @@ -22114,7 +25894,7 @@ "name": "doxepin", "id": "PA449409", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22168,7 +25948,7 @@ "id": "PA166105000", "name": "Annotation of CPIC Guideline for doxepin and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105000", "annotations": [ { @@ -22266,7 +26046,7 @@ "name": "efavirenz", "id": "PA449441", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22304,7 +26084,7 @@ "id": "PA166182603", "name": "Annotation of CPIC Guideline for efavirenz and CYP2B6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182603", "annotations": [ { @@ -22368,13 +26148,13 @@ "name": "enflurane", "id": "PA449461", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -22391,12 +26171,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -22426,15 +26205,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -22475,36 +26254,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -22555,7 +26305,7 @@ "name": "escitalopram", "id": "PA10074", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22619,7 +26369,7 @@ "id": "PA166127638", "name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638", "annotations": [ { @@ -22683,7 +26433,7 @@ "name": "fluorouracil", "id": "PA128406956", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -22751,7 +26501,7 @@ "id": "PA166122686", "name": "Annotation of CPIC Guideline for fluorouracil and DPYD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122686", "annotations": [ { @@ -22815,7 +26565,7 @@ "name": "flurbiprofen", "id": "PA449683", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22845,7 +26595,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -22909,7 +26659,7 @@ "name": "fluvastatin", "id": "PA449688", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -22975,7 +26725,7 @@ "id": "PA166262341", "name": "Annotation of CPIC Guideline for fluvastatin and CYP2C9, SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262341", "annotations": [ { @@ -23073,7 +26823,7 @@ "name": "fluvoxamine", "id": "PA449690", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23137,7 +26887,7 @@ "id": "PA166127637", "name": "Annotation of CPIC Guideline for fluvoxamine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127637", "annotations": [ { @@ -23201,7 +26951,7 @@ "name": "fosphenytoin", "id": "PA164746820", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -23273,7 +27023,7 @@ "id": "PA166122806", "name": "Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122806", "annotations": [ { @@ -23466,7 +27216,7 @@ "name": "gentamicin", "id": "PA449753", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23499,7 +27249,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -23557,13 +27307,13 @@ "name": "halothane", "id": "PA449845", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -23580,12 +27330,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -23615,15 +27364,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -23664,36 +27413,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -23744,7 +27464,7 @@ "name": "hydrocodone", "id": "PA449900", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23786,7 +27506,7 @@ "id": "PA166228121", "name": "Annotation of CPIC Guideline for hydrocodone and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228121", "annotations": [ { @@ -23850,7 +27570,7 @@ "name": "ibuprofen", "id": "PA449957", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23880,7 +27600,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -23944,7 +27664,7 @@ "name": "imipramine", "id": "PA449969", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23998,7 +27718,7 @@ "id": "PA166104999", "name": "Annotation of CPIC Guideline for imipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104999", "annotations": [ { @@ -24096,13 +27816,13 @@ "name": "isoflurane", "id": "PA450106", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -24119,12 +27839,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -24154,15 +27873,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -24203,36 +27922,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -24283,7 +27973,7 @@ "name": "ivacaftor", "id": "PA165950341", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24313,7 +28003,7 @@ "id": "PA166114461", "name": "Annotation of CPIC Guideline for ivacaftor and CFTR", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166114461", "annotations": [ { @@ -24377,7 +28067,7 @@ "name": "kanamycin", "id": "PA450137", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24410,7 +28100,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -24468,7 +28158,7 @@ "name": "lansoprazole", "id": "PA450180", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24509,7 +28199,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -24573,7 +28263,7 @@ "name": "lornoxicam", "id": "PA165958395", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24603,7 +28293,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -24667,7 +28357,7 @@ "name": "lovastatin", "id": "PA450272", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -24733,7 +28423,7 @@ "id": "PA166262241", "name": "Annotation of CPIC Guideline for lovastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262241", "annotations": [ { @@ -24797,7 +28487,7 @@ "name": "meloxicam", "id": "PA450353", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24827,7 +28517,7 @@ "id": "PA166192301", "name": "Annotation of CPIC Guideline for meloxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192301", "annotations": [ { @@ -24891,7 +28581,7 @@ "name": "mercaptopurine", "id": "PA450379", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24967,7 +28657,7 @@ "id": "PA166104945", "name": "Annotation of CPIC Guideline for mercaptopurine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104945", "annotations": [ { @@ -25065,13 +28755,13 @@ "name": "methoxyflurane", "id": "PA450434", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -25088,12 +28778,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -25123,15 +28812,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -25172,36 +28861,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -25252,7 +28912,7 @@ "name": "methylene blue", "id": "PA450457", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -25354,7 +29014,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -25418,7 +29078,7 @@ "name": "nitrofurantoin", "id": "PA450640", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -25481,7 +29141,7 @@ "id": "PA166279721", "name": "Annotation of CPIC Guideline for nitrofurantoin and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166279721", "annotations": [ { @@ -25545,7 +29205,7 @@ "name": "nortriptyline", "id": "PA450657", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25599,7 +29259,7 @@ "id": "PA166104998", "name": "Annotation of CPIC Guideline for nortriptyline and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104998", "annotations": [ { @@ -25663,7 +29323,7 @@ "name": "omeprazole", "id": "PA450704", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25704,7 +29364,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -25768,7 +29428,7 @@ "name": "ondansetron", "id": "PA450705", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25800,7 +29460,7 @@ "id": "PA166161954", "name": "Annotation of CPIC Guideline for ondansetron and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161954", "annotations": [ { @@ -25864,7 +29524,7 @@ "name": "oxcarbazepine", "id": "PA450732", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25899,7 +29559,7 @@ "id": "PA166176623", "name": "Annotation of CPIC Guideline for oxcarbazepine and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176623", "annotations": [ { @@ -26024,7 +29684,7 @@ "name": "pantoprazole", "id": "PA450774", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26065,7 +29725,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -26129,7 +29789,7 @@ "name": "paromomycin", "id": "PA164784023", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26162,7 +29822,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -26220,7 +29880,7 @@ "name": "paroxetine", "id": "PA450801", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26284,7 +29944,7 @@ "id": "PA166127636", "name": "Annotation of CPIC Guideline for paroxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127636", "annotations": [ { @@ -26348,7 +30008,7 @@ "name": "peginterferon alfa-2a", "id": "PA164749390", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26378,7 +30038,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -26388,7 +30048,7 @@ "name": "peginterferon alfa-2b", "id": "PA164784024", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26418,7 +30078,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -26428,7 +30088,7 @@ "name": "pegloticase", "id": "PA165963961", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -26530,7 +30190,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -26594,7 +30254,7 @@ "name": "phenytoin", "id": "PA450947", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -26666,7 +30326,7 @@ "id": "PA166122806", "name": "Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122806", "annotations": [ { @@ -26859,7 +30519,7 @@ "name": "piroxicam", "id": "PA450985", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26889,7 +30549,7 @@ "id": "PA166192321", "name": "Annotation of CPIC Guideline for piroxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192321", "annotations": [ { @@ -26953,7 +30613,7 @@ "name": "pitavastatin", "id": "PA142650384", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -27019,7 +30679,7 @@ "id": "PA166262261", "name": "Annotation of CPIC Guideline for pitavastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262261", "annotations": [ { @@ -27083,7 +30743,7 @@ "name": "plazomicin", "id": "PA166228921", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27116,7 +30776,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -27174,7 +30834,7 @@ "name": "pravastatin", "id": "PA451089", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -27240,7 +30900,7 @@ "id": "PA166262281", "name": "Annotation of CPIC Guideline for pravastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262281", "annotations": [ { @@ -27304,7 +30964,7 @@ "name": "primaquine", "id": "PA451103", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -27389,7 +31049,7 @@ "id": "PA166279621", "name": "Annotation of CPIC Guideline for primaquine and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166279621", "annotations": [ { @@ -27453,7 +31113,7 @@ "name": "rasburicase", "id": "PA10176", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -27555,7 +31215,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -27619,7 +31279,7 @@ "name": "ribavirin", "id": "PA451241", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27649,7 +31309,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -27659,7 +31319,7 @@ "name": "rosuvastatin", "id": "PA134308647", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -27725,7 +31385,7 @@ "id": "PA166262321", "name": "Annotation of CPIC Guideline for rosuvastatin and ABCG2, SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262321", "annotations": [ { @@ -27823,7 +31483,7 @@ "name": "sertraline", "id": "PA451333", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27887,7 +31547,7 @@ "id": "PA166127639", "name": "Annotation of CPIC Guideline for sertraline and CYP2B6, CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127639", "annotations": [ { @@ -27985,13 +31645,13 @@ "name": "sevoflurane", "id": "PA451341", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -28008,12 +31668,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -28043,15 +31702,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -28092,36 +31751,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -28165,410 +31795,347 @@ "otherPrescribingGuidance": true } ] - } - ] - }, - "simvastatin": { - "name": "simvastatin", - "id": "PA451363", - "source": "CPIC", - "version": "2023-10-05-00-25", - "messages": [ - { - "rule_name": "SLCO1B1-drug text", - "version": "1", - "matches": { - "gene": "SLCO1B1", - "hapsCalled": [], - "hapsMissing": [], - "variantsMissing": [], - "variant": null, - "dips": [], - "drugs": [ - "simvastatin", - "rosuvastatin", - "pravastatin", - "pitavastatin", - "lovastatin", - "fluvastatin", - "atorvastatin" - ] - }, - "exception_type": "note", - "message": "The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

    In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5." - } - ], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166105005" - ], - "citations": [ - { - "pmid": "22617227", - "title": "The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.", - "authors": [ - "Wilke R A", - "Ramsey L B", - "Johnson S G", - "Maxwell W D", - "McLeod H L", - "Voora D", - "Krauss R M", - "Roden D M", - "Feng Q", - "Cooper-Dehoff R M", - "Gong L", - "Klein T E", - "Wadelius M", - "Niemi M", - "Clinical Pharmacogenomics Implementation Consortium (CPIC)" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2012 - }, - { - "pmid": "24918167", - "title": "The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.", - "authors": [ - "Ramsey L B", - "Johnson S G", - "Caudle K E", - "Haidar C E", - "Voora D", - "Wilke R A", - "Maxwell W D", - "McLeod H L", - "Krauss R M", - "Roden D M", - "Feng Q", - "Cooper-DeHoff R M", - "Gong L", - "Klein T E", - "Wadelius M", - "Niemi M" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2014 - }, - { - "pmid": "35152405", - "title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.", - "authors": [ - "Cooper-DeHoff Rhonda M", - "Niemi Mikko", - "Ramsey Laura B", - "Luzum Jasmine A", - "Tarkiainen E Katriina", - "Straka Robert J", - "Gong Li", - "Tuteja Sony", - "Wilke Russell A", - "Wadelius Mia", - "Larson Eric A", - "Roden Dan M", - "Klein Teri E", - "Yee Sook Wah", - "Krauss Ronald M", - "Turner Richard M", - "Palaniappan Latha", - "Gaedigk Andrea", - "Giacomini Kathleen M", - "Caudle Kelly E", - "Voora Deepak" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2022 - } - ], - "guidelines": [ - { - "id": "PA166105005", - "name": "Annotation of CPIC Guideline for simvastatin and SLCO1B1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105005", - "annotations": [ - { - "implications": [ - "SLCO1B1: Typical myopathy risk and statin exposure" - ], - "drugRecommendation": "Prescribe desired starting dose and adjust doses based on disease-specific guidelines.\n

    Other Considerations

    \nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ - { - "allele1": { - "gene": "SLCO1B1", - "name": "*1", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "allele2": { - "gene": "SLCO1B1", - "name": "*1", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "gene": "SLCO1B1", - "phenotypes": [ - "Normal Function" - ], - "outsidePhenotype": false, - "outsidePhenotypeMismatch": null, - "activityScore": null, - "outsideActivityScore": false, - "outsideActivityScoreMismatch": null, - "variant": null, - "lookupKey": [ - "Normal Function" - ], - "label": "*1/*1", - "inferred": false, - "combination": false, - "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": false - } - ] - } - ] - }, - "streptomycin": { - "name": "streptomycin", - "id": "PA451512", - "source": "CPIC", - "version": "2023-10-05-00-25", - "messages": [], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166229081" - ], - "citations": [ - { - "pmid": "34032273", - "title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.", - "authors": [ - "McDermott John Henry", - "Wolf Joshua", - "Hoshitsuki Keito", - "Huddart Rachel", - "Caudle Kelly E", - "Whirl-Carrillo Michelle", - "Steyger Peter S", - "Smith Richard J H", - "Cody Neal", - "Rodriguez-Antona Cristina", - "Klein Teri E", - "Newman William G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2022 - } - ], - "guidelines": [ - { - "id": "PA166229081", - "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", - "annotations": [ - { - "implications": [ - "MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic." - ], - "drugRecommendation": "Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies.\n

    Other Considerations

    \nIf no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring).", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ - { - "allele1": { - "gene": "MT-RNR1", - "name": "1555A>G", - "function": "Increased risk of aminoglycoside-induced hearing loss", - "reference": false, - "activityValue": "n/a" - }, - "allele2": null, - "gene": "MT-RNR1", - "phenotypes": [ - "increased risk of aminoglycoside-induced hearing loss" - ], - "outsidePhenotype": false, - "outsidePhenotypeMismatch": null, - "activityScore": null, - "outsideActivityScore": false, - "outsideActivityScoreMismatch": null, - "variant": null, - "lookupKey": [ - "increased risk of aminoglycoside-induced hearing loss" - ], - "label": "1555A>G", - "inferred": false, - "combination": false, - "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - } - ] - } - ] - }, - "succinylcholine": { - "name": "succinylcholine", - "id": "PA451522", - "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", - "messages": [ - { - "rule_name": "Malignant Hyperthermia Susceptibility warning", - "version": "2", - "matches": { - "gene": null, - "hapsCalled": [], - "hapsMissing": [], - "variantsMissing": [], - "variant": null, - "dips": [], - "drugs": [ - "desflurane", - "enflurane", - "halothane", - "isoflurane", - "methoxyflurane", - "sevoflurane", - "succinylcholine" - ] - }, - "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." - } - ], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", - "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" - ], - "citations": [ - { - "pmid": "30499100", - "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", - "authors": [ - "Gonsalves Stephen G", - "Dirksen Robert T", - "Sangkuhl Katrin", - "Pulk Rebecca", - "Alvarellos Maria", - "Vo Teresa", - "Hikino Keiko", - "Roden Dan", - "Klein Teri E", - "Poler S Mark", - "Patel Sephalie", - "Caudle Kelly E", - "Gordon Ronald", - "Brandom Barbara", - "Biesecker Leslie G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2019 - } - ], - "guidelines": [ - { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ - { - "allele1": { - "gene": "CACNA1S", - "name": "Reference", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "allele2": { - "gene": "CACNA1S", - "name": "Reference", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "gene": "CACNA1S", - "phenotypes": [ - "Uncertain Susceptibility" - ], - "outsidePhenotype": false, - "outsidePhenotypeMismatch": null, - "activityScore": null, - "outsideActivityScore": false, - "outsideActivityScoreMismatch": null, - "variant": null, - "lookupKey": [ - "Uncertain Susceptibility" - ], - "label": "Reference/Reference", - "inferred": false, - "combination": false, - "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] + } + ] + }, + "simvastatin": { + "name": "simvastatin", + "id": "PA451363", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [ + { + "rule_name": "SLCO1B1-drug text", + "version": "1", + "matches": { + "gene": "SLCO1B1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "simvastatin", + "rosuvastatin", + "pravastatin", + "pitavastatin", + "lovastatin", + "fluvastatin", + "atorvastatin" + ] + }, + "exception_type": "note", + "message": "The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

    In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5." + } + ], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166105005" + ], + "citations": [ + { + "pmid": "22617227", + "title": "The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.", + "authors": [ + "Wilke R A", + "Ramsey L B", + "Johnson S G", + "Maxwell W D", + "McLeod H L", + "Voora D", + "Krauss R M", + "Roden D M", + "Feng Q", + "Cooper-Dehoff R M", + "Gong L", + "Klein T E", + "Wadelius M", + "Niemi M", + "Clinical Pharmacogenomics Implementation Consortium (CPIC)" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2012 }, + { + "pmid": "24918167", + "title": "The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.", + "authors": [ + "Ramsey L B", + "Johnson S G", + "Caudle K E", + "Haidar C E", + "Voora D", + "Wilke R A", + "Maxwell W D", + "McLeod H L", + "Krauss R M", + "Roden D M", + "Feng Q", + "Cooper-DeHoff R M", + "Gong L", + "Klein T E", + "Wadelius M", + "Niemi M" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2014 + }, + { + "pmid": "35152405", + "title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.", + "authors": [ + "Cooper-DeHoff Rhonda M", + "Niemi Mikko", + "Ramsey Laura B", + "Luzum Jasmine A", + "Tarkiainen E Katriina", + "Straka Robert J", + "Gong Li", + "Tuteja Sony", + "Wilke Russell A", + "Wadelius Mia", + "Larson Eric A", + "Roden Dan M", + "Klein Teri E", + "Yee Sook Wah", + "Krauss Ronald M", + "Turner Richard M", + "Palaniappan Latha", + "Gaedigk Andrea", + "Giacomini Kathleen M", + "Caudle Kelly E", + "Voora Deepak" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2022 + } + ], + "guidelines": [ + { + "id": "PA166105005", + "name": "Annotation of CPIC Guideline for simvastatin and SLCO1B1", + "source": "CPIC", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105005", + "annotations": [ + { + "implications": [ + "SLCO1B1: Typical myopathy risk and statin exposure" + ], + "drugRecommendation": "Prescribe desired starting dose and adjust doses based on disease-specific guidelines.\n

    Other Considerations

    \nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.", + "classification": "Strong", + "activityScore": {}, + "population": "general", + "genotypes": [ + { + "diplotypes": [ + { + "allele1": { + "gene": "SLCO1B1", + "name": "*1", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "allele2": { + "gene": "SLCO1B1", + "name": "*1", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "gene": "SLCO1B1", + "phenotypes": [ + "Normal Function" + ], + "outsidePhenotype": false, + "outsidePhenotypeMismatch": null, + "activityScore": null, + "outsideActivityScore": false, + "outsideActivityScoreMismatch": null, + "variant": null, + "lookupKey": [ + "Normal Function" + ], + "label": "*1/*1", + "inferred": false, + "combination": false, + "phenotypeDataSource": "CPIC" + } + ] + } + ], + "messages": [], + "highlightedVariants": [], + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": false + } + ] + } + ] + }, + "streptomycin": { + "name": "streptomycin", + "id": "PA451512", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166229081" + ], + "citations": [ + { + "pmid": "34032273", + "title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.", + "authors": [ + "McDermott John Henry", + "Wolf Joshua", + "Hoshitsuki Keito", + "Huddart Rachel", + "Caudle Kelly E", + "Whirl-Carrillo Michelle", + "Steyger Peter S", + "Smith Richard J H", + "Cody Neal", + "Rodriguez-Antona Cristina", + "Klein Teri E", + "Newman William G" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2022 + } + ], + "guidelines": [ + { + "id": "PA166229081", + "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", + "source": "CPIC", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", + "annotations": [ + { + "implications": [ + "MT-RNR1: Very high risk of developing hearing loss if administered an aminoglycoside antibiotic." + ], + "drugRecommendation": "Avoid aminoglycoside anitbiotics unless the high risk of permanent hearing loss is outweighed by the severity of infection and lack of safe or effective alternative therapies.\n

    Other Considerations

    \nIf no effective alternative to an aminoglycoside antibiotic is available, evaluate for hearing loss frequently during therapy and ensure that all appropriate precautions are utilized (e.g., lowest possible dose and duration, utilization of therapeutic drug monitoring, hydration, renal function monitoring).", + "classification": "Strong", + "activityScore": {}, + "population": "general", + "genotypes": [ + { + "diplotypes": [ + { + "allele1": { + "gene": "MT-RNR1", + "name": "1555A>G", + "function": "Increased risk of aminoglycoside-induced hearing loss", + "reference": false, + "activityValue": "n/a" + }, + "allele2": null, + "gene": "MT-RNR1", + "phenotypes": [ + "increased risk of aminoglycoside-induced hearing loss" + ], + "outsidePhenotype": false, + "outsidePhenotypeMismatch": null, + "activityScore": null, + "outsideActivityScore": false, + "outsideActivityScoreMismatch": null, + "variant": null, + "lookupKey": [ + "increased risk of aminoglycoside-induced hearing loss" + ], + "label": "1555A>G", + "inferred": false, + "combination": false, + "phenotypeDataSource": "CPIC" + } + ] + } + ], + "messages": [], + "highlightedVariants": [], + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": false + } + ] + } + ] + }, + "succinylcholine": { + "name": "succinylcholine", + "id": "PA451522", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [ + { + "rule_name": "Malignant Hyperthermia Susceptibility warning", + "version": "2", + "matches": { + "gene": "RYR1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "desflurane", + "enflurane", + "halothane", + "isoflurane", + "methoxyflurane", + "sevoflurane", + "succinylcholine" + ] + }, + "exception_type": "note", + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " + } + ], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" + ], + "citations": [ + { + "pmid": "30499100", + "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", + "authors": [ + "Gonsalves Stephen G", + "Dirksen Robert T", + "Sangkuhl Katrin", + "Pulk Rebecca", + "Alvarellos Maria", + "Vo Teresa", + "Hikino Keiko", + "Roden Dan", + "Klein Teri E", + "Poler S Mark", + "Patel Sephalie", + "Caudle Kelly E", + "Gordon Ronald", + "Brandom Barbara", + "Biesecker Leslie G" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2019 + } + ], + "guidelines": [ { "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -28577,6 +32144,39 @@ "genotypes": [ { "diplotypes": [ + { + "allele1": { + "gene": "CACNA1S", + "name": "Reference", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "allele2": { + "gene": "CACNA1S", + "name": "Reference", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "gene": "CACNA1S", + "phenotypes": [ + "Uncertain Susceptibility" + ], + "outsidePhenotype": false, + "outsidePhenotypeMismatch": null, + "activityScore": null, + "outsideActivityScore": false, + "outsideActivityScoreMismatch": null, + "variant": null, + "lookupKey": [ + "Uncertain Susceptibility" + ], + "label": "Reference/Reference", + "inferred": false, + "combination": false, + "phenotypeDataSource": "CPIC" + }, { "allele1": { "gene": "RYR1", @@ -28627,7 +32227,7 @@ "name": "tacrolimus", "id": "PA451578", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28664,7 +32264,7 @@ "id": "PA166124619", "name": "Annotation of CPIC Guideline for tacrolimus and CYP3A5", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166124619", "annotations": [ { @@ -28728,7 +32328,7 @@ "name": "tafenoquine", "id": "PA166115580", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -28830,7 +32430,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -28894,7 +32494,7 @@ "name": "tamoxifen", "id": "PA451581", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28930,7 +32530,7 @@ "id": "PA166176068", "name": "Annotation of CPIC Guideline for tamoxifen and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176068", "annotations": [ { @@ -28994,7 +32594,7 @@ "name": "tenoxicam", "id": "PA131890625", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29024,7 +32624,7 @@ "id": "PA166192341", "name": "Annotation of CPIC Guideline for tenoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192341", "annotations": [ { @@ -29088,7 +32688,7 @@ "name": "thioguanine", "id": "PA451663", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29164,7 +32764,7 @@ "id": "PA166104965", "name": "Annotation of CPIC Guideline for thioguanine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104965", "annotations": [ { @@ -29262,7 +32862,7 @@ "name": "tobramycin", "id": "PA451704", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29295,7 +32895,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [ { @@ -29353,7 +32953,7 @@ "name": "toluidine blue", "id": "PA166268821", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -29455,7 +33055,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -29519,7 +33119,7 @@ "name": "tramadol", "id": "PA451735", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29561,7 +33161,7 @@ "id": "PA166228101", "name": "Annotation of CPIC Guideline for tramadol and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228101", "annotations": [ { @@ -29625,7 +33225,7 @@ "name": "trimipramine", "id": "PA451791", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29679,7 +33279,7 @@ "id": "PA166105001", "name": "Annotation of CPIC Guideline for trimipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105001", "annotations": [ { @@ -29777,7 +33377,7 @@ "name": "tropisetron", "id": "PA161925594", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29809,7 +33409,7 @@ "id": "PA166161955", "name": "Annotation of CPIC Guideline for tropisetron and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161955", "annotations": [ { @@ -29873,7 +33473,7 @@ "name": "venlafaxine", "id": "PA451866", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29912,7 +33512,7 @@ "id": "PA166288201", "name": "Annotation of CPIC Guideline for venlafaxine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288201", "annotations": [ { @@ -29976,7 +33576,7 @@ "name": "voriconazole", "id": "PA10233", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30010,7 +33610,7 @@ "id": "PA166161537", "name": "Annotation of CPIC Guideline for voriconazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161537", "annotations": [ { @@ -30127,7 +33727,7 @@ "name": "vortioxetine", "id": "PA166122595", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30166,7 +33766,7 @@ "id": "PA166288221", "name": "Annotation of CPIC Guideline for vortioxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288221", "annotations": [ { @@ -30230,7 +33830,7 @@ "name": "warfarin", "id": "PA451906", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "pcat-cpic-warfarin-1-flowchart", @@ -30324,7 +33924,7 @@ "id": "PA166104949", "name": "Annotation of CPIC Guideline for warfarin and CYP2C9, CYP4F2, VKORC1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104949", "annotations": [ { @@ -30448,7 +34048,7 @@ "name": "abacavir", "id": "PA448004", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30483,7 +34083,7 @@ "id": "PA166104991", "name": "Annotation of DPWG Guideline for abacavir and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104991", "annotations": [ { @@ -30551,7 +34151,7 @@ "name": "acenocoumarol", "id": "PA452632", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30586,7 +34186,7 @@ "id": "PA166104938", "name": "Annotation of DPWG Guideline for acenocoumarol and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104938", "annotations": [ { @@ -30650,7 +34250,7 @@ "name": "allopurinol", "id": "PA448320", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30687,7 +34287,7 @@ "id": "PA166264961", "name": "Annotation of DPWG Guideline for allopurinol and ABCG2", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166264961", "annotations": [ { @@ -30749,7 +34349,7 @@ "id": "PA166265141", "name": "Annotation of DPWG Guideline for allopurinol and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265141", "annotations": [] } @@ -30759,7 +34359,7 @@ "name": "amitriptyline", "id": "PA448385", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30794,7 +34394,7 @@ "id": "PA166104982", "name": "Annotation of DPWG Guideline for amitriptyline and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104982", "annotations": [ { @@ -30858,7 +34458,7 @@ "name": "aripiprazole", "id": "PA10026", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30916,7 +34516,7 @@ "id": "PA166104937", "name": "Annotation of DPWG Guideline for aripiprazole and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104937", "annotations": [ { @@ -30980,7 +34580,7 @@ "name": "atomoxetine", "id": "PA134688071", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31030,7 +34630,7 @@ "Risselada Arne" ], "journal": "European journal of human genetics : EJHG", - "year": 2022 + "year": 2023 } ], "guidelines": [ @@ -31038,7 +34638,7 @@ "id": "PA166104989", "name": "Annotation of DPWG Guideline for atomoxetine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104989", "annotations": [ { @@ -31102,7 +34702,7 @@ "name": "atorvastatin", "id": "PA448500", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -31138,7 +34738,7 @@ "id": "PA166182843", "name": "Annotation of DPWG Guideline for atorvastatin and SLCO1B1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182843", "annotations": [ { @@ -31202,7 +34802,7 @@ "name": "azathioprine", "id": "PA448515", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31238,7 +34838,7 @@ "id": "PA166184614", "name": "Annotation of DPWG Guideline for azathioprine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184614", "annotations": [ { @@ -31300,7 +34900,7 @@ "id": "PA166104934", "name": "Annotation of DPWG Guideline for azathioprine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104934", "annotations": [ { @@ -31364,7 +34964,7 @@ "name": "brexpiprazole", "id": "PA166160053", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31400,7 +35000,7 @@ "id": "PA166184527", "name": "Annotation of DPWG Guideline for brexpiprazole and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184527", "annotations": [ { @@ -31464,7 +35064,7 @@ "name": "capecitabine", "id": "PA448771", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -31543,7 +35143,7 @@ "id": "PA166104963", "name": "Annotation of DPWG Guideline for capecitabine and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104963", "annotations": [ { @@ -31607,7 +35207,7 @@ "name": "carbamazepine", "id": "PA448785", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31620,7 +35220,7 @@ "id": "PA166265161", "name": "Annotation of DPWG Guideline for carbamazepine and HLA-A", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265161", "annotations": [] }, @@ -31628,7 +35228,7 @@ "id": "PA166265162", "name": "Annotation of DPWG Guideline for carbamazepine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265162", "annotations": [ { @@ -31696,7 +35296,7 @@ "name": "citalopram", "id": "PA449015", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31754,7 +35354,7 @@ "id": "PA166104977", "name": "Annotation of DPWG Guideline for citalopram and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104977", "annotations": [] } @@ -31764,7 +35364,7 @@ "name": "clomipramine", "id": "PA449048", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31800,7 +35400,7 @@ "id": "PA166184528", "name": "Annotation of DPWG Guideline for clomipramine and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184528", "annotations": [] }, @@ -31808,7 +35408,7 @@ "id": "PA166104964", "name": "Annotation of DPWG Guideline for clomipramine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104964", "annotations": [ { @@ -31872,7 +35472,7 @@ "name": "clopidogrel", "id": "PA449053", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31907,7 +35507,7 @@ "id": "PA166104956", "name": "Annotation of DPWG Guideline for clopidogrel and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104956", "annotations": [] } @@ -31917,7 +35517,7 @@ "name": "codeine", "id": "PA449088", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31974,7 +35574,7 @@ "id": "PA166104970", "name": "Annotation of DPWG Guideline for codeine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104970", "annotations": [ { @@ -32038,7 +35638,7 @@ "name": "doxepin", "id": "PA449409", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32073,7 +35673,7 @@ "id": "PA166104994", "name": "Annotation of DPWG Guideline for doxepin and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104994", "annotations": [ { @@ -32137,7 +35737,7 @@ "name": "efavirenz", "id": "PA449441", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32149,7 +35749,7 @@ "id": "PA166182846", "name": "Annotation of DPWG Guideline for efavirenz and CYP2B6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182846", "annotations": [ { @@ -32213,7 +35813,7 @@ "name": "eliglustat", "id": "PA166123486", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32225,7 +35825,7 @@ "id": "PA166182823", "name": "Annotation of DPWG Guideline for eliglustat and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182823", "annotations": [ { @@ -32289,7 +35889,7 @@ "name": "escitalopram", "id": "PA10074", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32347,7 +35947,7 @@ "id": "PA166104975", "name": "Annotation of DPWG Guideline for escitalopram and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104975", "annotations": [] } @@ -32357,7 +35957,7 @@ "name": "flecainide", "id": "PA449646", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32392,7 +35992,7 @@ "id": "PA166104969", "name": "Annotation of DPWG Guideline for flecainide and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104969", "annotations": [ { @@ -32456,7 +36056,7 @@ "name": "flucloxacillin", "id": "PA164781042", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32468,7 +36068,7 @@ "id": "PA166182810", "name": "Annotation of DPWG Guideline for flucloxacillin and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182810", "annotations": [ { @@ -32536,7 +36136,7 @@ "name": "flucytosine", "id": "PA449654", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -32569,7 +36169,7 @@ "id": "PA166222801", "name": "Annotation of DPWG Guideline for flucytosine and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166222801", "annotations": [ { @@ -32633,7 +36233,7 @@ "name": "fluorouracil", "id": "PA128406956", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -32712,7 +36312,7 @@ "id": "PA166104939", "name": "Annotation of DPWG Guideline for fluorouracil and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104939", "annotations": [ { @@ -32776,7 +36376,7 @@ "name": "haloperidol", "id": "PA449841", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32834,7 +36434,7 @@ "id": "PA166104988", "name": "Annotation of DPWG Guideline for haloperidol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104988", "annotations": [ { @@ -32898,7 +36498,7 @@ "name": "hormonal contraceptives for systemic use", "id": "PA452637", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32933,7 +36533,7 @@ "id": "PA166104955", "name": "Annotation of DPWG Guideline for hormonal contraceptives for systemic use and F5", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104955", "annotations": [ { @@ -32997,7 +36597,7 @@ "name": "imipramine", "id": "PA449969", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33033,7 +36633,7 @@ "id": "PA166104954", "name": "Annotation of DPWG Guideline for imipramine and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104954", "annotations": [] }, @@ -33041,7 +36641,7 @@ "id": "PA166104972", "name": "Annotation of DPWG Guideline for imipramine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104972", "annotations": [ { @@ -33105,7 +36705,7 @@ "name": "irinotecan", "id": "PA450085", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "irinotecan-DPWG", @@ -33182,7 +36782,7 @@ "id": "PA166104951", "name": "Annotation of DPWG Guideline for irinotecan and UGT1A1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104951", "annotations": [ { @@ -33246,7 +36846,7 @@ "name": "lamotrigine", "id": "PA450164", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33258,7 +36858,7 @@ "id": "PA166265341", "name": "Annotation of DPWG Guideline for lamotrigine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265341", "annotations": [ { @@ -33326,7 +36926,7 @@ "name": "lansoprazole", "id": "PA450180", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33361,7 +36961,7 @@ "id": "PA166104987", "name": "Annotation of DPWG Guideline for lansoprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104987", "annotations": [] } @@ -33371,7 +36971,7 @@ "name": "mercaptopurine", "id": "PA450379", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33407,7 +37007,7 @@ "id": "PA166184613", "name": "Annotation of DPWG Guideline for mercaptopurine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184613", "annotations": [ { @@ -33469,7 +37069,7 @@ "id": "PA166104952", "name": "Annotation of DPWG Guideline for mercaptopurine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104952", "annotations": [ { @@ -33533,7 +37133,7 @@ "name": "metoprolol", "id": "PA450480", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33568,7 +37168,7 @@ "id": "PA166104995", "name": "Annotation of DPWG Guideline for metoprolol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104995", "annotations": [ { @@ -33632,7 +37232,7 @@ "name": "nortriptyline", "id": "PA450657", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33667,7 +37267,7 @@ "id": "PA166104961", "name": "Annotation of DPWG Guideline for nortriptyline and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104961", "annotations": [ { @@ -33731,7 +37331,7 @@ "name": "omeprazole", "id": "PA450704", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33766,7 +37366,7 @@ "id": "PA166104957", "name": "Annotation of DPWG Guideline for omeprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104957", "annotations": [] } @@ -33776,7 +37376,7 @@ "name": "oxcarbazepine", "id": "PA450732", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33788,7 +37388,7 @@ "id": "PA166265201", "name": "Annotation of DPWG Guideline for oxcarbazepine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265201", "annotations": [ { @@ -33856,7 +37456,7 @@ "name": "pantoprazole", "id": "PA450774", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33891,7 +37491,7 @@ "id": "PA166104958", "name": "Annotation of DPWG Guideline for pantoprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104958", "annotations": [] } @@ -33901,7 +37501,7 @@ "name": "paroxetine", "id": "PA450801", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33959,7 +37559,7 @@ "id": "PA166104976", "name": "Annotation of DPWG Guideline for paroxetine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104976", "annotations": [ { @@ -34023,7 +37623,7 @@ "name": "phenprocoumon", "id": "PA450921", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34058,7 +37658,7 @@ "id": "PA166104940", "name": "Annotation of DPWG Guideline for phenprocoumon and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104940", "annotations": [ { @@ -34122,7 +37722,7 @@ "name": "phenytoin", "id": "PA450947", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -34177,7 +37777,7 @@ "id": "PA166104984", "name": "Annotation of DPWG Guideline for phenytoin and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104984", "annotations": [ { @@ -34239,7 +37839,7 @@ "id": "PA166264881", "name": "Annotation of DPWG Guideline for phenytoin and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166264881", "annotations": [ { @@ -34307,7 +37907,7 @@ "name": "pimozide", "id": "PA450965", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34343,7 +37943,7 @@ "id": "PA166182819", "name": "Annotation of DPWG Guideline for pimozide and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182819", "annotations": [ { @@ -34407,7 +38007,7 @@ "name": "propafenone", "id": "PA451131", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34442,7 +38042,7 @@ "id": "PA166104962", "name": "Annotation of DPWG Guideline for propafenone and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104962", "annotations": [ { @@ -34506,7 +38106,7 @@ "name": "quetiapine", "id": "PA451201", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "CYP3A4", @@ -34560,7 +38160,7 @@ "id": "PA166265421", "name": "Annotation of DPWG Guideline for quetiapine and CYP3A4", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265421", "annotations": [ { @@ -34624,7 +38224,7 @@ "name": "risperidone", "id": "PA451257", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34682,7 +38282,7 @@ "id": "PA166104943", "name": "Annotation of DPWG Guideline for risperidone and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104943", "annotations": [ { @@ -34746,7 +38346,7 @@ "name": "sertraline", "id": "PA451333", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34804,7 +38404,7 @@ "id": "PA166104980", "name": "Annotation of DPWG Guideline for sertraline and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104980", "annotations": [] } @@ -34814,7 +38414,7 @@ "name": "simvastatin", "id": "PA451363", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -34850,7 +38450,7 @@ "id": "PA166182844", "name": "Annotation of DPWG Guideline for simvastatin and SLCO1B1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182844", "annotations": [ { @@ -34914,7 +38514,7 @@ "name": "siponimod", "id": "PA166182736", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -34926,7 +38526,7 @@ "id": "PA166211021", "name": "Annotation of DPWG Guideline for siponimod and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166211021", "annotations": [ { @@ -34990,7 +38590,7 @@ "name": "tacrolimus", "id": "PA451578", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35025,7 +38625,7 @@ "id": "PA166104983", "name": "Annotation of DPWG Guideline for tacrolimus and CYP3A5", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104983", "annotations": [ { @@ -35089,7 +38689,7 @@ "name": "tamoxifen", "id": "PA451581", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35124,7 +38724,7 @@ "id": "PA166104966", "name": "Annotation of DPWG Guideline for tamoxifen and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104966", "annotations": [ { @@ -35188,7 +38788,7 @@ "name": "tegafur", "id": "PA452620", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -35267,7 +38867,7 @@ "id": "PA166104944", "name": "Annotation of DPWG Guideline for tegafur and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104944", "annotations": [ { @@ -35331,7 +38931,7 @@ "name": "thioguanine", "id": "PA451663", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35367,7 +38967,7 @@ "id": "PA166184612", "name": "Annotation of DPWG Guideline for thioguanine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184612", "annotations": [ { @@ -35429,7 +39029,7 @@ "id": "PA166104960", "name": "Annotation of DPWG Guideline for thioguanine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104960", "annotations": [ { @@ -35493,7 +39093,7 @@ "name": "tramadol", "id": "PA451735", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35550,7 +39150,7 @@ "id": "PA166104959", "name": "Annotation of DPWG Guideline for tramadol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104959", "annotations": [ { @@ -35614,7 +39214,7 @@ "name": "venlafaxine", "id": "PA451866", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35649,7 +39249,7 @@ "id": "PA166104968", "name": "Annotation of DPWG Guideline for venlafaxine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104968", "annotations": [ { @@ -35713,7 +39313,7 @@ "name": "voriconazole", "id": "PA10233", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35748,7 +39348,7 @@ "id": "PA166104990", "name": "Annotation of DPWG Guideline for voriconazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104990", "annotations": [] } @@ -35758,7 +39358,7 @@ "name": "warfarin", "id": "PA451906", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35771,7 +39371,7 @@ "id": "PA166182842", "name": "Annotation of DPWG Guideline for warfarin and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182842", "annotations": [ { @@ -35833,7 +39433,7 @@ "id": "PA166182841", "name": "Annotation of DPWG Guideline for warfarin and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182841", "annotations": [ { @@ -35897,7 +39497,7 @@ "name": "zuclopenthixol", "id": "PA452629", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -35955,7 +39555,7 @@ "id": "PA166104992", "name": "Annotation of DPWG Guideline for zuclopenthixol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104992", "annotations": [ { diff --git a/docs/examples/pharmcat.example.vcf b/docs/examples/pharmcat.example.vcf index 27005bdce..08cd73341 100644 --- a/docs/examples/pharmcat.example.vcf +++ b/docs/examples/pharmcat.example.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##source=PharmCAT allele definitions -##fileDate=2023-10-02T20:13:15.094-07:00 +##fileDate=2023-12-19T08:54:58.431-08:00 ##contig= ##contig= ##contig= @@ -158,7 +158,7 @@ chr7 99665212 rs10264272 C T . PASS PX=CYP3A5 GT 0/0 chr7 99672916 rs776746 T C . PASS PX=CYP3A5 GT 0/0 chr7 99676198 rs55817950 G A . PASS PX=CYP3A5 GT 0/0 chr7 99758183 rs67666821 G GT . PASS PX=CYP3A4 GT 0/0 -chr7 99758228 . T A . PASS PX=CYP3A4 GT 0/0 +chr7 99758228 rs1584538410 T A . PASS PX=CYP3A4 GT 0/0 chr7 99760836 rs4986913 G A . PASS PX=CYP3A4 GT 0/0 chr7 99760901 rs4986910 A G . PASS PX=CYP3A4 GT 0/0 chr7 99760956 rs774109750 T C . PASS PX=CYP3A4 GT 0/0 @@ -415,50 +415,319 @@ chr19 15897466 rs201380574 C T . PASS PX=CYP4F2 GT 0/0 chr19 15897473 rs115517770 G A . PASS PX=CYP4F2 GT 0/0 chr19 15897566 rs114099324 C G . PASS PX=CYP4F2 GT 0/0 chr19 15897578 rs3093105 A C . PASS PX=CYP4F2 GT 0/0 +chr19 38433867 rs193922744 T G . PASS PX=RYR1 GT 0/0 +chr19 38440747 rs193922745 CGAT C . PASS PX=RYR1 GT 0/0 +chr19 38440796 rs193922746 A G . PASS PX=RYR1 GT 0/0 chr19 38440802 rs193922747 T C . PASS PX=RYR1 GT 0/0 +chr19 38440818 . G C . PASS PX=RYR1 GT 0/0 chr19 38440829 rs193922748 C T . PASS PX=RYR1 GT 0/0 +chr19 38440830 rs139161723 G A . PASS PX=RYR1 GT 0/0 +chr19 38440851 rs193922749 C A . PASS PX=RYR1 GT 0/0 +chr19 38442361 rs118192160 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38442373 rs995399438 T C . PASS PX=RYR1 GT 0/0 +chr19 38442395 rs118192113 C A . PASS PX=RYR1 GT 0/0 +chr19 38442434 rs186983396 C T . PASS PX=RYR1 GT 0/0 +chr19 38443790 rs142474192 G A . PASS PX=RYR1 GT 0/0 +chr19 38444179 . C A . PASS PX=RYR1 GT 0/0 +chr19 38444187 rs193922750 C A . PASS PX=RYR1 GT 0/0 +chr19 38444191 rs193922751 G A . PASS PX=RYR1 GT 0/0 +chr19 38444203 rs193922752 A G . PASS PX=RYR1 GT 0/0 chr19 38444211 rs118192161 C T . PASS PX=RYR1 GT 0/0 -chr19 38444212 rs193922753 G T . PASS PX=RYR1 GT 0/0 +chr19 38444212 rs193922753 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38444217 rs193922754 G A . PASS PX=RYR1 GT 0/0 +chr19 38444220 rs193922755 G A . PASS PX=RYR1 GT 0/0 +chr19 38444221 rs193922756 A G . PASS PX=RYR1 GT 0/0 +chr19 38444250 rs761616815 G A . PASS PX=RYR1 GT 0/0 +chr19 38444252 . G T . PASS PX=RYR1 GT 0/0 +chr19 38444253 rs193922757 C T . PASS PX=RYR1 GT 0/0 +chr19 38444257 . A C,G . PASS PX=RYR1 GT 0/0 +chr19 38444671 rs771058055 G A . PASS PX=RYR1 GT 0/0 +chr19 38446481 rs727504129 C T . PASS PX=RYR1 GT 0/0 +chr19 38446492 rs193922759 G A . PASS PX=RYR1 GT 0/0 +chr19 38446517 rs112596687 T A . PASS PX=RYR1 GT 0/0 +chr19 38446520 rs193922760 A T . PASS PX=RYR1 GT 0/0 chr19 38446710 rs1801086 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38448500 rs752652072 C T . PASS PX=RYR1 GT 0/0 +chr19 38448501 rs193922761 G T . PASS PX=RYR1 GT 0/0 chr19 38448673 rs193922762 C T . PASS PX=RYR1 GT 0/0 +chr19 38448680 . T TGGA . PASS PX=RYR1 GT 0/0 chr19 38448712 rs121918592 G A,C . PASS PX=RYR1 GT 0/0 -chr19 38451842 rs193922764 C T . PASS PX=RYR1 GT 0/0 +chr19 38448715 . G A . PASS PX=RYR1 GT 0/0 +chr19 38448791 rs113332073 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38451785 . C A . PASS PX=RYR1 GT 0/0 +chr19 38451842 rs193922764 C A,G,T . PASS PX=RYR1 GT 0/0 +chr19 38451843 rs193922766 G A,T . PASS PX=RYR1 GT 0/0 chr19 38451850 rs118192116 C G . PASS PX=RYR1 GT 0/0 -chr19 38455359 rs118192162 A C . PASS PX=RYR1 GT 0/0 +chr19 38452985 . C T . PASS PX=RYR1 GT 0/0 +chr19 38452996 rs193922767 G T . PASS PX=RYR1 GT 0/0 +chr19 38455247 rs147723844 A G . PASS PX=RYR1 GT 0/0 +chr19 38455253 . C G . PASS PX=RYR1 GT 0/0 +chr19 38455254 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455269 rs901087791 G A . PASS PX=RYR1 GT 0/0 +chr19 38455347 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455359 rs118192162 A C,G . PASS PX=RYR1 GT 0/0 chr19 38455463 rs111888148 G A . PASS PX=RYR1 GT 0/0 -chr19 38455471 rs193922768 C T . PASS PX=RYR1 GT 0/0 +chr19 38455471 rs193922768 C A,T . PASS PX=RYR1 GT 0/0 chr19 38455472 rs144336148 G A . PASS PX=RYR1 GT 0/0 +chr19 38455489 rs193922769 T C,G . PASS PX=RYR1 GT 0/0 +chr19 38455504 . G T . PASS PX=RYR1 GT 0/0 chr19 38455528 rs193922770 C T . PASS PX=RYR1 GT 0/0 +chr19 38457539 rs118204423 G C . PASS PX=RYR1 GT 0/0 chr19 38457545 rs118192172 C T . PASS PX=RYR1 GT 0/0 chr19 38457546 rs193922772 G T . PASS PX=RYR1 GT 0/0 +chr19 38458175 rs747177274 G C . PASS PX=RYR1 GT 0/0 +chr19 38458247 rs138874610 G A . PASS PX=RYR1 GT 0/0 +chr19 38460461 rs376149732 C T . PASS PX=RYR1 GT 0/0 +chr19 38460551 rs193922775 C T . PASS PX=RYR1 GT 0/0 +chr19 38463499 rs370634440 G A . PASS PX=RYR1 GT 0/0 +chr19 38464649 rs148623597 G A . PASS PX=RYR1 GT 0/0 +chr19 38466144 rs778241277 G A . PASS PX=RYR1 GT 0/0 +chr19 38466216 rs180714609 G A . PASS PX=RYR1 GT 0/0 +chr19 38466315 rs141942845 G A . PASS PX=RYR1 GT 0/0 +chr19 38466347 rs111272095 C T . PASS PX=RYR1 GT 0/0 +chr19 38466386 rs2145447772 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38466392 . G A . PASS PX=RYR1 GT 0/0 +chr19 38467655 rs749040743 G A . PASS PX=RYR1 GT 0/0 +chr19 38469002 rs193922776 C T . PASS PX=RYR1 GT 0/0 +chr19 38469111 rs549201486 C T . PASS PX=RYR1 GT 0/0 +chr19 38469404 . A C . PASS PX=RYR1 GT 0/0 +chr19 38469415 rs936513262 G A . PASS PX=RYR1 GT 0/0 +chr19 38473635 rs34694816 A G . PASS PX=RYR1 GT 0/0 +chr19 38475335 rs137933390 A G . PASS PX=RYR1 GT 0/0 +chr19 38477816 rs145573319 A G . PASS PX=RYR1 GT 0/0 +chr19 38483293 rs146429605 A G . PASS PX=RYR1 GT 0/0 +chr19 38483329 rs754476250 C T . PASS PX=RYR1 GT 0/0 +chr19 38483345 rs151029675 C T . PASS PX=RYR1 GT 0/0 +chr19 38483357 rs193922777 C T . PASS PX=RYR1 GT 0/0 +chr19 38485679 . T C . PASS PX=RYR1 GT 0/0 +chr19 38485688 rs781104539 A G . PASS PX=RYR1 GT 0/0 +chr19 38485691 rs146504767 G A . PASS PX=RYR1 GT 0/0 +chr19 38485787 rs754785770 A G . PASS PX=RYR1 GT 0/0 +chr19 38485838 rs193922781 C T . PASS PX=RYR1 GT 0/0 +chr19 38485841 rs193922782 T G . PASS PX=RYR1 GT 0/0 +chr19 38485972 rs192863857 C T . PASS PX=RYR1 GT 0/0 +chr19 38485996 rs372958050 T C . PASS PX=RYR1 GT 0/0 +chr19 38486015 rs34934920 C T . PASS PX=RYR1 GT 0/0 +chr19 38486095 . A G . PASS PX=RYR1 GT 0/0 +chr19 38486096 rs193922783 T A . PASS PX=RYR1 GT 0/0 +chr19 38490151 rs145801146 C T . PASS PX=RYR1 GT 0/0 +chr19 38490642 . A C . PASS PX=RYR1 GT 0/0 +chr19 38492540 rs35364374 G T . PASS PX=RYR1 GT 0/0 +chr19 38494379 rs746818096 T A . PASS PX=RYR1 GT 0/0 +chr19 38494381 rs770593660 G C . PASS PX=RYR1 GT 0/0 +chr19 38494426 rs193922788 G C . PASS PX=RYR1 GT 0/0 +chr19 38494454 . G A . PASS PX=RYR1 GT 0/0 +chr19 38494464 rs117886618 C G . PASS PX=RYR1 GT 0/0 +chr19 38494465 rs193922789 G A . PASS PX=RYR1 GT 0/0 +chr19 38494555 rs143398211 G A . PASS PX=RYR1 GT 0/0 chr19 38494564 rs118192175 C T . PASS PX=RYR1 GT 0/0 -chr19 38494565 rs118192163 G A . PASS PX=RYR1 GT 0/0 +chr19 38494565 rs118192163 G A,C,T . PASS PX=RYR1 GT 0/0 chr19 38494579 rs118192176 G A . PASS PX=RYR1 GT 0/0 +chr19 38494621 rs193922790 A T . PASS PX=RYR1 GT 0/0 +chr19 38494625 rs959170123 G A . PASS PX=RYR1 GT 0/0 +chr19 38496265 rs193922791 C T . PASS PX=RYR1 GT 0/0 +chr19 38496278 rs141646642 C G . PASS PX=RYR1 GT 0/0 chr19 38496283 rs118192177 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38496294 rs193922792 G T . PASS PX=RYR1 GT 0/0 +chr19 38496301 rs193922793 T A . PASS PX=RYR1 GT 0/0 +chr19 38496306 rs193922795 G A . PASS PX=RYR1 GT 0/0 +chr19 38496415 rs199870223 C T . PASS PX=RYR1 GT 0/0 +chr19 38496416 rs537994744 G A . PASS PX=RYR1 GT 0/0 +chr19 38496455 . G A . PASS PX=RYR1 GT 0/0 +chr19 38496487 rs763352221 C T . PASS PX=RYR1 GT 0/0 +chr19 38496488 rs140152019 G A . PASS PX=RYR1 GT 0/0 +chr19 38496502 rs917523269 C T . PASS PX=RYR1 GT 0/0 +chr19 38496901 rs193922797 G A . PASS PX=RYR1 GT 0/0 +chr19 38496910 rs118192121 A C . PASS PX=RYR1 GT 0/0 +chr19 38499177 rs34390345 A G . PASS PX=RYR1 GT 0/0 chr19 38499223 rs112563513 G A . PASS PX=RYR1 GT 0/0 +chr19 38499234 . T C . PASS PX=RYR1 GT 0/0 +chr19 38499241 rs147213895 A G . PASS PX=RYR1 GT 0/0 +chr19 38499639 rs193922798 G C . PASS PX=RYR1 GT 0/0 +chr19 38499642 . C A . PASS PX=RYR1 GT 0/0 +chr19 38499643 rs193922799 G A . PASS PX=RYR1 GT 0/0 chr19 38499644 rs121918596 TGGA T . PASS PX=RYR1 GT 0/0 +chr19 38499650 rs193922801 A G . PASS PX=RYR1 GT 0/0 chr19 38499655 rs193922802 G A . PASS PX=RYR1 GT 0/0 +chr19 38499667 . G A . PASS PX=RYR1 GT 0/0 chr19 38499670 rs193922803 C T . PASS PX=RYR1 GT 0/0 +chr19 38499680 . T A . PASS PX=RYR1 GT 0/0 +chr19 38499682 rs769482889 C T . PASS PX=RYR1 GT 0/0 +chr19 38499683 . G A . PASS PX=RYR1 GT 0/0 +chr19 38499691 rs762401851 G A . PASS PX=RYR1 GT 0/0 +chr19 38499692 rs193922804 A G . PASS PX=RYR1 GT 0/0 +chr19 38499696 . C G . PASS PX=RYR1 GT 0/0 +chr19 38499697 rs193922805 T G . PASS PX=RYR1 GT 0/0 +chr19 38499704 rs193922806 C G . PASS PX=RYR1 GT 0/0 +chr19 38499706 rs146306934 G A . PASS PX=RYR1 GT 0/0 +chr19 38499719 . A G . PASS PX=RYR1 GT 0/0 +chr19 38499730 . G A . PASS PX=RYR1 GT 0/0 chr19 38499731 rs193922807 G C . PASS PX=RYR1 GT 0/0 +chr19 38499806 rs976108591 A G . PASS PX=RYR1 GT 0/0 +chr19 38499817 rs111364296 G A . PASS PX=RYR1 GT 0/0 chr19 38499975 rs193922809 G A . PASS PX=RYR1 GT 0/0 +chr19 38499984 rs193922810 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38499985 . A T . PASS PX=RYR1 GT 0/0 chr19 38499993 rs121918593 G A . PASS PX=RYR1 GT 0/0 -chr19 38499997 rs28933396 G A . PASS PX=RYR1 GT 0/0 +chr19 38499997 rs28933396 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500000 . G A . PASS PX=RYR1 GT 0/0 +chr19 38500003 rs193922812 C T . PASS PX=RYR1 GT 0/0 +chr19 38500010 rs193922813 G C . PASS PX=RYR1 GT 0/0 chr19 38500636 rs118192124 C T . PASS PX=RYR1 GT 0/0 +chr19 38500637 rs193922815 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38500640 rs118192123 T C . PASS PX=RYR1 GT 0/0 chr19 38500642 rs193922816 C T . PASS PX=RYR1 GT 0/0 chr19 38500643 rs118192122 G A . PASS PX=RYR1 GT 0/0 chr19 38500654 rs28933397 C T . PASS PX=RYR1 GT 0/0 -chr19 38500655 rs121918594 G A . PASS PX=RYR1 GT 0/0 +chr19 38500655 rs121918594 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500667 rs551223467 C T . PASS PX=RYR1 GT 0/0 +chr19 38500863 rs193922817 C T . PASS PX=RYR1 GT 0/0 chr19 38500898 rs118192178 C G,T . PASS PX=RYR1 GT 0/0 chr19 38500899 rs193922818 G A . PASS PX=RYR1 GT 0/0 +chr19 38500904 rs193922819 T C . PASS PX=RYR1 GT 0/0 +chr19 38502652 rs767553612 A G . PASS PX=RYR1 GT 0/0 +chr19 38502663 rs193922822 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38502669 . C G . PASS PX=RYR1 GT 0/0 +chr19 38502670 rs751180702 G A . PASS PX=RYR1 GT 0/0 +chr19 38502679 rs193922824 C T . PASS PX=RYR1 GT 0/0 +chr19 38502708 rs748575133 T A . PASS PX=RYR1 GT 0/0 +chr19 38502923 rs914804033 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38504298 . G A . PASS PX=RYR1 GT 0/0 +chr19 38504319 rs193922826 C T . PASS PX=RYR1 GT 0/0 +chr19 38504347 rs781126470 C T . PASS PX=RYR1 GT 0/0 +chr19 38504868 rs193922827 G C . PASS PX=RYR1 GT 0/0 +chr19 38504869 rs112196644 A G . PASS PX=RYR1 GT 0/0 +chr19 38504878 rs193922828 G A . PASS PX=RYR1 GT 0/0 +chr19 38505061 rs193922829 G A . PASS PX=RYR1 GT 0/0 +chr19 38505325 rs147707463 C T . PASS PX=RYR1 GT 0/0 +chr19 38505358 rs35180584 C G . PASS PX=RYR1 GT 0/0 +chr19 38505923 rs193922830 C T . PASS PX=RYR1 GT 0/0 +chr19 38505932 rs768535909 T C . PASS PX=RYR1 GT 0/0 +chr19 38506361 rs193922831 T A . PASS PX=RYR1 GT 0/0 +chr19 38506492 rs112772310 G A . PASS PX=RYR1 GT 0/0 +chr19 38506508 . C G . PASS PX=RYR1 GT 0/0 +chr19 38506865 . C T . PASS PX=RYR1 GT 0/0 +chr19 38507821 . C T . PASS PX=RYR1 GT 0/0 +chr19 38511590 rs147303895 G A . PASS PX=RYR1 GT 0/0 +chr19 38512279 . G A . PASS PX=RYR1 GT 0/0 chr19 38512321 rs193922832 G A . PASS PX=RYR1 GT 0/0 +chr19 38512367 rs193922833 G A . PASS PX=RYR1 GT 0/0 +chr19 38515052 . C T . PASS PX=RYR1 GT 0/0 +chr19 38516167 rs199738299 A G . PASS PX=RYR1 GT 0/0 +chr19 38516181 . T C . PASS PX=RYR1 GT 0/0 +chr19 38516184 rs553055844 G A . PASS PX=RYR1 GT 0/0 +chr19 38516208 . G C . PASS PX=RYR1 GT 0/0 +chr19 38517431 rs375626634 T C . PASS PX=RYR1 GT 0/0 +chr19 38517470 . T C . PASS PX=RYR1 GT 0/0 +chr19 38517521 rs757753317 G A . PASS PX=RYR1 GT 0/0 +chr19 38517523 . T A . PASS PX=RYR1 GT 0/0 +chr19 38517541 rs112151058 G A . PASS PX=RYR1 GT 0/0 +chr19 38519237 rs118204421 C T . PASS PX=RYR1 GT 0/0 +chr19 38519238 rs193922834 G A . PASS PX=RYR1 GT 0/0 +chr19 38519292 rs137932199 G A . PASS PX=RYR1 GT 0/0 +chr19 38519295 rs118192126 A G . PASS PX=RYR1 GT 0/0 +chr19 38519424 . C A . PASS PX=RYR1 GT 0/0 +chr19 38519432 . A T . PASS PX=RYR1 GT 0/0 +chr19 38519447 . A G . PASS PX=RYR1 GT 0/0 +chr19 38525432 . C T . PASS PX=RYR1 GT 0/0 +chr19 38525492 rs143987857 G A . PASS PX=RYR1 GT 0/0 +chr19 38527707 rs55876273 G C . PASS PX=RYR1 GT 0/0 +chr19 38527710 . G C . PASS PX=RYR1 GT 0/0 +chr19 38528372 . G T . PASS PX=RYR1 GT 0/0 +chr19 38529002 . G C . PASS PX=RYR1 GT 0/0 +chr19 38529036 rs193922838 G T . PASS PX=RYR1 GT 0/0 +chr19 38529042 . C T . PASS PX=RYR1 GT 0/0 +chr19 38529048 rs375915752 C T . PASS PX=RYR1 GT 0/0 +chr19 38534726 rs4802584 C G . PASS PX=RYR1 GT 0/0 +chr19 38534774 rs763112609 C T . PASS PX=RYR1 GT 0/0 +chr19 38534775 rs193922839 G A . PASS PX=RYR1 GT 0/0 +chr19 38535197 rs111565359 G A . PASS PX=RYR1 GT 0/0 +chr19 38535998 rs140616359 G A . PASS PX=RYR1 GT 0/0 +chr19 38543365 rs148399313 G A . PASS PX=RYR1 GT 0/0 +chr19 38543380 . A T . PASS PX=RYR1 GT 0/0 +chr19 38543405 rs193922840 T G . PASS PX=RYR1 GT 0/0 +chr19 38543551 rs147136339 A G . PASS PX=RYR1 GT 0/0 +chr19 38543566 . G A . PASS PX=RYR1 GT 0/0 +chr19 38543810 . C T . PASS PX=RYR1 GT 0/0 +chr19 38543816 rs118204422 T C . PASS PX=RYR1 GT 0/0 +chr19 38543821 rs193922842 C G . PASS PX=RYR1 GT 0/0 chr19 38543832 rs193922843 G T . PASS PX=RYR1 GT 0/0 +chr19 38546460 rs755088027 G A . PASS PX=RYR1 GT 0/0 +chr19 38546496 rs773040531 A G . PASS PX=RYR1 GT 0/0 +chr19 38548253 . A T . PASS PX=RYR1 GT 0/0 +chr19 38548259 rs144685735 C T . PASS PX=RYR1 GT 0/0 +chr19 38548287 rs193922844 C A . PASS PX=RYR1 GT 0/0 +chr19 38548380 rs373406011 C T . PASS PX=RYR1 GT 0/0 +chr19 38561140 . G C . PASS PX=RYR1 GT 0/0 +chr19 38561185 rs193922848 A T . PASS PX=RYR1 GT 0/0 +chr19 38561213 . C T . PASS PX=RYR1 GT 0/0 +chr19 38561228 rs201321695 A G . PASS PX=RYR1 GT 0/0 +chr19 38561236 rs193922849 C A . PASS PX=RYR1 GT 0/0 +chr19 38561243 rs193922850 T C . PASS PX=RYR1 GT 0/0 +chr19 38561362 . G A . PASS PX=RYR1 GT 0/0 +chr19 38561363 . G T . PASS PX=RYR1 GT 0/0 +chr19 38561383 rs151119428 G A . PASS PX=RYR1 GT 0/0 +chr19 38565023 . T G . PASS PX=RYR1 GT 0/0 +chr19 38565034 rs193922852 G C,T . PASS PX=RYR1 GT 0/0 +chr19 38565182 rs193922853 A T . PASS PX=RYR1 GT 0/0 +chr19 38565215 rs587784372 C T . PASS PX=RYR1 GT 0/0 +chr19 38565218 rs193922855 C T . PASS PX=RYR1 GT 0/0 +chr19 38566978 rs139647387 A G . PASS PX=RYR1 GT 0/0 +chr19 38566986 rs150396398 G C . PASS PX=RYR1 GT 0/0 +chr19 38570619 rs771741606 C T . PASS PX=RYR1 GT 0/0 +chr19 38570620 rs118192130 G A . PASS PX=RYR1 GT 0/0 +chr19 38570649 . C G . PASS PX=RYR1 GT 0/0 +chr19 38572032 rs143520367 C T . PASS PX=RYR1 GT 0/0 +chr19 38572185 rs118192135 G A . PASS PX=RYR1 GT 0/0 +chr19 38572190 rs756850145 A G . PASS PX=RYR1 GT 0/0 +chr19 38572206 rs193922860 G A . PASS PX=RYR1 GT 0/0 +chr19 38572262 rs759500310 T C . PASS PX=RYR1 GT 0/0 +chr19 38572266 rs193922862 TC CT . PASS PX=RYR1 GT 0/0 +chr19 38573180 rs193922863 C T . PASS PX=RYR1 GT 0/0 +chr19 38573229 rs193922864 T C . PASS PX=RYR1 GT 0/0 +chr19 38573304 rs118192140 C T . PASS PX=RYR1 GT 0/0 +chr19 38575957 rs200766617 G A . PASS PX=RYR1 GT 0/0 +chr19 38577931 . A C . PASS PX=RYR1 GT 0/0 +chr19 38577942 rs193922865 T G . PASS PX=RYR1 GT 0/0 +chr19 38577946 rs193922866 G A . PASS PX=RYR1 GT 0/0 +chr19 38577954 rs193922867 C T . PASS PX=RYR1 GT 0/0 +chr19 38577955 rs193922868 G A . PASS PX=RYR1 GT 0/0 +chr19 38578015 rs768360593 G A . PASS PX=RYR1 GT 0/0 +chr19 38578205 . G T . PASS PX=RYR1 GT 0/0 chr19 38580004 rs118192167 A G . PASS PX=RYR1 GT 0/0 +chr19 38580039 . TT AA . PASS PX=RYR1 GT 0/0 +chr19 38580041 . C A . PASS PX=RYR1 GT 0/0 +chr19 38580066 rs143988412 A T . PASS PX=RYR1 GT 0/0 +chr19 38580075 rs193922873 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38580088 rs193922874 T C . PASS PX=RYR1 GT 0/0 chr19 38580094 rs121918595 C T . PASS PX=RYR1 GT 0/0 chr19 38580114 rs193922876 C T . PASS PX=RYR1 GT 0/0 +chr19 38580126 . C G . PASS PX=RYR1 GT 0/0 chr19 38580370 rs193922878 C G . PASS PX=RYR1 GT 0/0 +chr19 38580382 rs193922879 G A . PASS PX=RYR1 GT 0/0 +chr19 38580397 . G C . PASS PX=RYR1 GT 0/0 chr19 38580403 rs118192168 G A . PASS PX=RYR1 GT 0/0 +chr19 38580416 . C T . PASS PX=RYR1 GT 0/0 +chr19 38580425 rs193922880 C G . PASS PX=RYR1 GT 0/0 +chr19 38580439 rs118192181 C T . PASS PX=RYR1 GT 0/0 chr19 38580440 rs63749869 G A . PASS PX=RYR1 GT 0/0 +chr19 38580485 rs113210953 A G . PASS PX=RYR1 GT 0/0 +chr19 38580497 rs193922883 T C . PASS PX=RYR1 GT 0/0 +chr19 38584974 rs118192151 G A . PASS PX=RYR1 GT 0/0 +chr19 38584976 rs193922888 G A . PASS PX=RYR1 GT 0/0 chr19 38584989 rs118192170 T C . PASS PX=RYR1 GT 0/0 +chr19 38585078 . A G . PASS PX=RYR1 GT 0/0 +chr19 38585099 . G A . PASS PX=RYR1 GT 0/0 +chr19 38585947 rs111657878 T C . PASS PX=RYR1 GT 0/0 +chr19 38585948 rs118192159 C G . PASS PX=RYR1 GT 0/0 +chr19 38585951 rs193922895 C A . PASS PX=RYR1 GT 0/0 +chr19 38585952 rs118192158 G A . PASS PX=RYR1 GT 0/0 +chr19 38585959 rs193922896 G T . PASS PX=RYR1 GT 0/0 +chr19 38586101 rs193922898 T A . PASS PX=RYR1 GT 0/0 +chr19 38586140 rs146876145 C T . PASS PX=RYR1 GT 0/0 +chr19 38586190 . A G . PASS PX=RYR1 GT 0/0 +chr19 38587362 . G C . PASS PX=RYR1 GT 0/0 +chr19 38587363 . G C . PASS PX=RYR1 GT 0/0 chr19 39248147 rs12979860 C T . PASS PX=IFNL3 GT 0/0 chr19 40991224 rs34223104 T C . PASS PX=CYP2B6 GT 0/0 chr19 40991367 rs34883432 A T . PASS PX=CYP2B6 GT 0/0 @@ -510,8 +779,11 @@ chr19 41016810 rs3211371 C A,T . PASS PX=CYP2B6 GT 0/0 chr22 42126578 rs1440526469 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126605 rs568495591 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126611 rs1135840 C G . PASS PX=CYP2D6 GT 0/0 +chr22 42126619 rs28371736 G A . PASS PX=CYP2D6 GT 0/0 +chr22 42126622 rs747998333 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126623 rs75467367 G C . PASS PX=CYP2D6 GT 0/0 chr22 42126624 rs74478221 C T . PASS PX=CYP2D6 GT 0/0 +chr22 42126625 . A G . PASS PX=CYP2D6 GT 0/0 chr22 42126627 . A C . PASS PX=CYP2D6 GT 0/0 chr22 42126633 . C G . PASS PX=CYP2D6 GT 0/0 chr22 42126634 . A C . PASS PX=CYP2D6 GT 0/0 @@ -519,8 +791,10 @@ chr22 42126635 rs766507177 T G . PASS PX=CYP2D6 GT 0/0 chr22 42126636 rs28371735 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126647 rs141756339 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126656 rs765776661 C CCAGTGGGCA . PASS PX=CYP2D6 GT 0/0 +chr22 42126658 rs1135836 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126660 rs1135835 T C . PASS PX=CYP2D6 GT 0/0 chr22 42126663 rs1135833 G C . PASS PX=CYP2D6 GT 0/0 +chr22 42126667 rs1135832 C G . PASS PX=CYP2D6 GT 0/0 chr22 42126681 . G C . PASS PX=CYP2D6 GT 0/0 chr22 42126697 . G T . PASS PX=CYP2D6 GT 0/0 chr22 42126715 rs760940331 C T . PASS PX=CYP2D6 GT 0/0 diff --git a/docs/examples/pharmcat.example2.match.html b/docs/examples/pharmcat.example2.match.html index 9c12c660b..db9bc70f9 100644 --- a/docs/examples/pharmcat.example2.match.html +++ b/docs/examples/pharmcat.example2.match.html @@ -116,7 +116,7 @@

    CYP2C9

    CYP3A4

    • *1/*1 (84)
    - + @@ -186,12 +186,12 @@

    NUDT15

    Definition Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
    rs67666821rs4986913rs4986910rs774109750rs4986909rs12721629rs756833413rs67784355rs368296206rs1303250043rs28371759rs4646438rs138105638rs55785340rs55901263rs113667357rs4987161rs12721627rs35599367rs4986908rs72552798rs4986907rs57409622rs72552799rs778013004rs55951658rs1449865051rs56324128rs570051168rs12721634rs188389063
    VCF Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
    VCF REF,ALTsG,GTT,AG,AA,GT,CG,AA,TT,GG,AC,AG,AC,TA,GG,TT,CA,GG,GTT,CC,TG,AA,GG,CT,AT,CA,GG,CG,AC,GC,TC,TG,AC,TG,AT,CT,CA,TC,TG,AG,CA,GG,CC,T
    Definition Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
    rs67666821rs1584538410rs4986913rs4986910rs774109750rs4986909rs12721629rs756833413rs67784355rs368296206rs1303250043rs28371759rs4646438rs138105638rs55785340rs55901263rs113667357rs4987161rs12721627rs35599367rs4986908rs72552798rs4986907rs57409622rs72552799rs778013004rs55951658rs1449865051rs56324128rs570051168rs12721634rs188389063
    VCF Position997581839975822899760836997609019976095699762047997620549976206999762177997621869976220699762234997638779976390999763925997640039976641199766424997664399976644099768360997683719976842499768447997684589976847099768693997697699976978199769804997698059977016599770166997701969977020299770217997780799978003699784018997840389978407599784078
    VCF REF,ALTsG,GTT,AG,AA,GT,CG,AA,TT,GG,AC,AG,AC,TA,GG,TT,CA,GG,GTT,CC,TG,AA,GG,CT,AT,CA,GG,CG,AC,GC,TC,TG,AC,TG,AT,CT,CA,TC,TG,AG,CA,GG,CC,T
    VCF CallG/GT/TG/GA/AT/TG/GA/AT/TG/GC/CG/GC/CA/AG/GT/TA/AG/GT/TC/CG/GA/AG/GT/TT/TA/AG/GG/GC/CC/CC/CG/GC/CG/GT/TT/TA/AC/CG/GG/GA/AG/GC/C
    *1GTGATGATGCGCAGTAGTCGAGTTAGGCCCGCGTTACGGAGC
    GTGATGATGCGCAGTAGTCGAGTTAGGCCCGCGTTACGGAGC

    RYR1

    -
    • Reference/Reference (88)
    +
    • Reference/Reference (626)
    - - - - + + + +
    Definition Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
    rs193922747rs193922748rs118192161rs193922753rs1801086rs193922762rs121918592rs193922764rs118192116rs118192162rs111888148rs193922768rs144336148rs193922770rs118192172rs193922772rs118192175rs118192163rs118192176rs118192177rs112563513rs121918596rs193922802rs193922803rs193922807rs193922809rs121918593rs28933396rs118192124rs193922816rs118192122rs28933397rs121918594rs118192178rs193922818rs193922832rs193922843rs118192167rs121918595rs193922876rs193922878rs118192168rs63749869rs118192170
    VCF Position3844080238440829384442113844421238446710384486733844871238451842384518503845535938455463384554713845547238455528384575453845754638494564384945653849457938496283384992233849964438499655384996703849973138499975384999933849999738500636385006423850064338500654385006553850089838500899385123213854383238580004385800943858011438580370385804033858044038584989
    VCF REF,ALTsT,CC,TC,TG,TG,A,CC,TG,A,CC,TC,GA,CG,AC,TG,AC,TC,TG,TC,TG,AG,AC,G,TG,ATGGA,TG,AC,TG,CG,AG,AG,AC,TC,TG,AC,TG,AC,G,TG,AG,AG,TA,GC,TC,TC,GG,AG,AT,C
    VCF CallT/TC/CC/CG/GG/GC/CG/GC/CC/CA/AG/GC/CG/GC/CC/CG/GC/CG/GG/GC/CG/GTGGA/TGGAG/GC/CG/GG/GG/GG/GC/CC/CG/GC/CG/GC/CG/GG/GG/GA/AC/CC/CC/CG/GG/GT/T
    ReferenceTCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT
    TCCGGCGCCAGCGCCGCGGCGTGGAGCGGGGCCGCGCGGGACCCGGT
    Definition Position38433867384407473844079638440802384408183844082938440830384408513844236138442373384423953844243438443790384441793844418738444191384442033844421138444212384442173844422038444221384442503844425238444253384442573844467138446481384464923844651738446520384467103844850038448501384486733844868038448712384487153844879138451785384518423845184338451850384529853845299638455247384552533845525438455269384553473845535938455463384554713845547238455489384555043845552838457539384575453845754638458175384582473846046138460551384634993846464938466144384662163846631538466347384663863846639238467655384690023846911138469404384694153847363538475335384778163848329338483329384833453848335738485679384856883848569138485787384858383848584138485972384859963848601538486095384860963849015138490642384925403849437938494381384944263849445438494464384944653849455538494564384945653849457938494621384946253849626538496278384962833849629438496301384963063849641538496416384964553849648738496488384965023849690138496910384991773849922338499234384992413849963938499642384996433849964438499650384996553849966738499670384996803849968238499683384996913849969238499696384996973849970438499706384997193849973038499731384998063849981738499975384999843849998538499993384999973850000038500003385000103850063638500637385006403850064238500643385006543850065538500667385008633850089838500899385009043850265238502663385026693850267038502679385027083850292338504298385043193850434738504868385048693850487838505061385053253850535838505923385059323850636138506492385065083850686538507821385115903851227938512321385123673851505238516167385161813851618438516208385174313851747038517521385175233851754138519237385192383851929238519295385194243851943238519447385254323852549238527707385277103852837238529002385290363852904238529048385347263853477438534775385351973853599838543365385433803854340538543551385435663854381038543816385438213854383238546460385464963854825338548259385482873854838038561140385611853856121338561228385612363856124338561362385613633856138338565023385650343856518238565215385652183856697838566986385706193857062038570649385720323857218538572190385722063857226238572266385731803857322938573304385759573857793138577942385779463857795438577955385780153857820538580004385800393858004138580066385800753858008838580094385801143858012638580370385803823858039738580403385804163858042538580439385804403858048538580497385849743858497638584989385850783858509938585947385859483858595138585952385859593858610138586140385861903858736238587363
    rs193922744rs193922745rs193922746rs193922747rs193922748rs139161723rs193922749rs118192160rs995399438rs118192113rs186983396rs142474192rs193922750rs193922751rs193922752rs118192161rs193922753rs193922754rs193922755rs193922756rs761616815rs193922757rs771058055rs727504129rs193922759rs112596687rs193922760rs1801086rs752652072rs193922761rs193922762rs121918592rs113332073rs193922764rs193922766rs118192116rs193922767rs147723844rs901087791rs118192162rs111888148rs193922768rs144336148rs193922769rs193922770rs118204423rs118192172rs193922772rs747177274rs138874610rs376149732rs193922775rs370634440rs148623597rs778241277rs180714609rs141942845rs111272095rs2145447772rs749040743rs193922776rs549201486rs936513262rs34694816rs137933390rs145573319rs146429605rs754476250rs151029675rs193922777rs781104539rs146504767rs754785770rs193922781rs193922782rs192863857rs372958050rs34934920rs193922783rs145801146rs35364374rs746818096rs770593660rs193922788rs117886618rs193922789rs143398211rs118192175rs118192163rs118192176rs193922790rs959170123rs193922791rs141646642rs118192177rs193922792rs193922793rs193922795rs199870223rs537994744rs763352221rs140152019rs917523269rs193922797rs118192121rs34390345rs112563513rs147213895rs193922798rs193922799rs121918596rs193922801rs193922802rs193922803rs769482889rs762401851rs193922804rs193922805rs193922806rs146306934rs193922807rs976108591rs111364296rs193922809rs193922810rs121918593rs28933396rs193922812rs193922813rs118192124rs193922815rs118192123rs193922816rs118192122rs28933397rs121918594rs551223467rs193922817rs118192178rs193922818rs193922819rs767553612rs193922822rs751180702rs193922824rs748575133rs914804033rs193922826rs781126470rs193922827rs112196644rs193922828rs193922829rs147707463rs35180584rs193922830rs768535909rs193922831rs112772310rs147303895rs193922832rs193922833rs199738299rs553055844rs375626634rs757753317rs112151058rs118204421rs193922834rs137932199rs118192126rs143987857rs55876273rs193922838rs375915752rs4802584rs763112609rs193922839rs111565359rs140616359rs148399313rs193922840rs147136339rs118204422rs193922842rs193922843rs755088027rs773040531rs144685735rs193922844rs373406011rs193922848rs201321695rs193922849rs193922850rs151119428rs193922852rs193922853rs587784372rs193922855rs139647387rs150396398rs771741606rs118192130rs143520367rs118192135rs756850145rs193922860rs759500310rs193922862rs193922863rs193922864rs118192140rs200766617rs193922865rs193922866rs193922867rs193922868rs768360593rs118192167rs143988412rs193922873rs193922874rs121918595rs193922876rs193922878rs193922879rs118192168rs193922880rs118192181rs63749869rs113210953rs193922883rs118192151rs193922888rs118192170rs111657878rs118192159rs193922895rs118192158rs193922896rs193922898rs146876145
    VCF Position38433867384407473844079638440802384408183844082938440830384408513844236138442373384423953844243438443790384441793844418738444191384442033844421138444212384442173844422038444221384442503844425238444253384442573844467138446481384464923844651738446520384467103844850038448501384486733844868038448712384487153844879138451785384518423845184338451850384529853845299638455247384552533845525438455269384553473845535938455463384554713845547238455489384555043845552838457539384575453845754638458175384582473846046138460551384634993846464938466144384662163846631538466347384663863846639238467655384690023846911138469404384694153847363538475335384778163848329338483329384833453848335738485679384856883848569138485787384858383848584138485972384859963848601538486095384860963849015138490642384925403849437938494381384944263849445438494464384944653849455538494564384945653849457938494621384946253849626538496278384962833849629438496301384963063849641538496416384964553849648738496488384965023849690138496910384991773849922338499234384992413849963938499642384996433849964438499650384996553849966738499670384996803849968238499683384996913849969238499696384996973849970438499706384997193849973038499731384998063849981738499975384999843849998538499993384999973850000038500003385000103850063638500637385006403850064238500643385006543850065538500667385008633850089838500899385009043850265238502663385026693850267038502679385027083850292338504298385043193850434738504868385048693850487838505061385053253850535838505923385059323850636138506492385065083850686538507821385115903851227938512321385123673851505238516167385161813851618438516208385174313851747038517521385175233851754138519237385192383851929238519295385194243851943238519447385254323852549238527707385277103852837238529002385290363852904238529048385347263853477438534775385351973853599838543365385433803854340538543551385435663854381038543816385438213854383238546460385464963854825338548259385482873854838038561140385611853856121338561228385612363856124338561362385613633856138338565023385650343856518238565215385652183856697838566986385706193857062038570649385720323857218538572190385722063857226238572266385731803857322938573304385759573857793138577942385779463857795438577955385780153857820538580004385800393858004138580066385800753858008838580094385801143858012638580370385803823858039738580403385804163858042538580439385804403858048538580497385849743858497638584989385850783858509938585947385859483858595138585952385859593858610138586140385861903858736238587363
    VCF REF,ALTsT,GCGAT,CA,GT,CG,CC,TG,AC,AG,A,TT,CC,AC,TG,AC,AC,AG,AA,GC,TG,A,TG,AG,AA,GG,AG,TC,TA,C,GG,AC,TG,AT,AA,TG,A,CC,TG,TC,TT,TGGAG,A,CG,AG,A,TC,AC,A,G,TG,A,TC,GC,TG,TA,GC,GT,CG,AT,CA,C,GG,AC,A,TG,AT,C,GG,TC,TG,CC,TG,TG,CG,AC,TC,TG,AG,AG,AG,AG,AC,TG,A,CG,AG,AC,TC,TA,CG,AA,GA,GA,GA,GC,TC,TC,TT,CA,GG,AA,GC,TT,GC,TT,CC,TA,GT,AC,TA,CG,TT,AG,CG,CG,AC,GG,AG,AC,TG,A,C,TG,AA,TG,AC,TC,GC,G,TG,TT,AG,AC,TG,AG,AC,TG,AC,TG,AA,CA,GG,AT,CA,GG,CC,AG,ATGGA,TA,GG,AG,AC,TT,AC,TG,AG,AA,GC,GT,GC,GG,AA,GG,AG,CA,GG,AG,AG,A,TA,TG,AG,A,TG,AC,TG,CC,TG,A,CT,CC,TG,AC,TG,A,TC,TC,TC,G,TG,AT,CA,GC,G,TC,GG,AC,TT,AG,A,CG,AC,TC,TG,CA,GG,AG,AC,TC,GC,TT,CT,AG,AC,GC,TC,TG,AG,AG,AG,AC,TA,GT,CG,AG,CT,CT,CG,AT,AG,AC,TG,AG,AA,GC,AA,TA,GC,TG,AG,CG,CG,TG,CG,TC,TC,TC,GC,TG,AG,AG,AG,AA,TT,GA,GG,AC,TT,CC,GG,TG,AA,GA,TC,TC,AC,TG,CA,TC,TA,GC,AT,CG,AG,TG,AT,GG,C,TA,TC,TC,TA,GG,CC,TG,AC,GC,TG,AA,GG,AT,CTC,CTC,TT,CC,TG,AA,CT,GG,AC,TG,AG,AG,TA,GTT,AAC,AA,TG,A,TT,CC,TC,TC,GC,GG,AG,CG,AC,TC,GC,TG,AA,GT,CG,AG,AT,CA,GG,AT,CC,GC,AG,AG,TT,AC,TA,GG,CG,C
    VCF CallT/TCGAT/CGATA/AT/TG/GC/CG/GC/CG/GT/TC/CC/CG/GC/CC/CG/GA/AC/CG/GG/GG/GA/AG/GG/GC/CA/AG/GC/CG/GT/TA/AG/GC/CG/GC/CT/TG/GG/GG/GC/CC/CG/GC/CC/CG/GA/AC/CT/TG/GT/TA/AG/GC/CG/GT/TG/GC/CG/GC/CG/GG/GG/GC/CC/CG/GG/GG/GG/GG/GC/CG/GG/GG/GC/CC/CA/AG/GA/AA/AA/AA/AC/CC/CC/CT/TA/AG/GA/AC/CT/TC/CT/TC/CA/AT/TC/CA/AG/GT/TG/GG/GG/GC/CG/GG/GC/CG/GG/GA/AG/GC/CC/CC/CG/GT/TG/GC/CG/GG/GC/CG/GC/CG/GA/AA/AG/GT/TA/AG/GC/CG/GTGGA/TGGAA/AG/GG/GC/CT/TC/CG/GG/GA/AC/CT/TC/CG/GA/AG/GG/GA/AG/GG/GG/GA/AG/GG/GG/GC/CG/GC/CG/GT/TC/CG/GC/CG/GC/CC/CC/CG/GT/TA/AC/CC/CG/GC/CT/TG/GG/GC/CC/CG/GA/AG/GG/GC/CC/CC/CT/TT/TG/GC/CC/CC/CG/GG/GG/GG/GC/CA/AT/TG/GG/GT/TT/TG/GT/TG/GC/CG/GG/GA/AC/CA/AA/AC/CG/GG/GG/GG/GG/GG/GC/CC/CC/CC/CG/GG/GG/GG/GA/AT/TA/AG/GC/CT/TC/CG/GG/GA/AA/AC/CC/CC/CG/GA/AC/CA/AC/CT/TG/GG/GG/GT/TG/GA/AC/CC/CA/AG/GC/CG/GC/CC/CG/GA/AG/GT/TTC/TCC/CT/TC/CG/GA/AT/TG/GC/CG/GG/GG/GA/ATT/TTC/CA/AG/GT/TC/CC/CC/CC/CG/GG/GG/GC/CC/CC/CG/GA/AT/TG/GG/GT/TA/AG/GT/TC/CC/CG/GG/GT/TC/CA/AG/GG/G
    ReferenceTCGATATGCGCGTCCGCCGACGGGAGGCAGCGTAGCGCTGGGCCGCCGACTGTAGCGTGCGCGGGCCGGGGGCGGGCCAGAAAACCCTAGACTCTCATCAGTGGGCGGCGGAGCCCGTGCGGCGCGAAGTAGCGTGGAAGGCTCGGACTCGAGGAGGGAGGGCGCGTCGCGCCCGTACCGCTGGCCGAGGCCCTTGCCCGGGGCATGGTTGTGCGGACAACGGGGGGCCCCGGGGATAGCTCGGAACCCGACACTGGGTGACCAGCGCCGAGTTCCTCGATGCGGGATTCAGTCCCCGGGCCCGATGGTAGTCCGGTCAGG
    TCGATATGCGCGTCCGCCGACGGGAGGCAGCGTAGCGCTGGGCCGCCGACTGTAGCGTGCGCGGGCCGGGGGCGGGCCAGAAAACCCTAGACTCTCATCAGTGGGCGGCGGAGCCCGTGCGGCGCGAAGTAGCGTGGAAGGCTCGGACTCGAGGAGGGAGGGCGCGTCGCGCCCGTACCGCTGGCCGAGGCCCTTGCCCGGGGCATGGTTGTGCGGACAACGGGGGGCCCCGGGGATAGCTCGGAACCCGACACTGGGTGACCAGCGCCGAGTTCCTCGATGCGGGATTCAGTCCCCGGGCCCGATGGTAGTCCGGTCAGG

    SLCO1B1

    @@ -236,7 +236,7 @@

    VKORC1

    - Generated on 10/27/23. + Generated on 12/19/23.

    diff --git a/docs/examples/pharmcat.example2.match.json b/docs/examples/pharmcat.example2.match.json index d028e23ee..a6882b846 100644 --- a/docs/examples/pharmcat.example2.match.json +++ b/docs/examples/pharmcat.example2.match.json @@ -3,7 +3,7 @@ "namedAlleleMatcherVersion": "2.0.0", "genomeBuild": "GRCh38.p13", "inputFilename": "pharmcat.example2.vcf", - "timestamp": "2023-10-27T17:40:37.495Z", + "timestamp": "2023-12-19T20:39:38.791Z", "topCandidatesOnly": true, "findCombinations": false, "callCyp2d": false @@ -11,7 +11,7 @@ "results": [ { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr4", "gene": "ABCG2", "diplotypes": [ @@ -107,7 +107,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr1", "gene": "CACNA1S", "diplotypes": [ @@ -215,7 +215,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr7", "gene": "CFTR", "diplotypes": [ @@ -767,7 +767,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "CYP2B6", "diplotypes": [ @@ -1527,7 +1527,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr10", "gene": "CYP2C19", "diplotypes": [ @@ -2019,7 +2019,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr10", "gene": "CYP2C9", "diplotypes": [ @@ -3070,7 +3070,7 @@ }, { "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "chromosome": "chr7", "gene": "CYP3A4", "diplotypes": [ @@ -3398,7 +3398,7 @@ }, { "position": 99758228, - "rsid": null, + "rsid": "rs1584538410", "vcfCall": "T/T", "phased": false }, @@ -3658,7 +3658,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr7", "gene": "CYP3A5", "diplotypes": [ @@ -3802,7 +3802,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "CYP4F2", "diplotypes": [ @@ -4042,7 +4042,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr1", "gene": "DPYD", "diplotypes": [ @@ -5110,7 +5110,7 @@ }, { "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "chromosome": "chr1", "gene": "F5", "diplotypes": [ @@ -5206,7 +5206,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chrX", "gene": "G6PD", "diplotypes": [ @@ -7344,7 +7344,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "IFNL3", "diplotypes": [ @@ -7440,7 +7440,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr13", "gene": "NUDT15", "diplotypes": [ @@ -7728,7 +7728,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr19", "gene": "RYR1", "diplotypes": [ @@ -7741,544 +7741,3610 @@ "id": "779148", "alleles": [ "T", - "C", + "CGAT", + "A", + "T", + "G", "C", "G", + "C", "G", + "T", + "C", "C", "G", "C", "C", + "G", + "A", + "C", + "G", + "G", + "G", "A", "G", + "G", "C", + "A", "G", "C", + "G", + "T", + "A", + "G", "C", "G", "C", + "T", + "G", "G", "G", "C", + "C", "G", - "TGGA", + "C", + "C", "G", + "A", "C", + "T", "G", + "T", + "A", "G", + "C", "G", + "T", "G", "C", + "G", "C", "G", + "G", + "G", + "C", "C", "G", + "G", + "G", + "G", + "G", "C", "G", "G", "G", + "C", + "C", + "A", + "G", + "A", + "A", + "A", "A", "C", "C", "C", + "T", + "A", "G", - "G", - "T" - ], - "cpicAlleles": [ + "A", + "C", + "T", + "C", "T", "C", + "A", + "T", "C", + "A", + "G", + "T", "G", "G", - "C", "G", "C", + "G", + "G", "C", + "G", + "G", "A", "G", "C", - "G", "C", "C", "G", + "T", + "G", "C", "G", "G", "C", "G", - "GAG", + "C", + "G", + "A", + "A", + "G", + "T", + "A", "G", "C", "G", + "TGGA", + "A", + "G", "G", + "C", + "T", + "C", "G", "G", + "A", + "C", + "T", "C", + "G", + "A", + "G", + "G", + "A", + "G", + "G", + "G", + "A", + "G", + "G", + "G", "C", "G", "C", "G", + "T", "C", "G", + "C", "G", + "C", + "C", + "C", "G", + "T", "A", "C", "C", + "G", "C", + "T", "G", "G", - "T" - ], - "populationFrequency": null, - "reference": true, - "numCombinations": 0, - "numPartials": 0 - }, - "sequences": [ - "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" - ] - }, - "haplotype2": { - "name": "Reference", - "haplotype": { - "name": "Reference", - "id": "779148", - "alleles": [ - "T", "C", "C", "G", + "A", + "G", "G", "C", + "C", + "C", + "T", + "T", "G", "C", "C", + "C", + "G", + "G", + "G", + "G", + "C", "A", + "T", + "G", + "G", + "T", + "T", + "G", + "T", "G", "C", "G", + "G", + "A", "C", + "A", + "A", "C", "G", + "G", + "G", + "G", + "G", + "G", "C", + "C", + "C", + "C", + "G", "G", "G", + "G", + "A", + "T", + "A", + "G", + "C", + "T", "C", "G", - "TGGA", "G", + "A", + "A", + "C", + "C", + "C", + "G", + "A", + "C", + "A", "C", + "T", + "G", + "G", "G", + "T", "G", + "A", + "C", + "C", + "A", "G", + "C", "G", "C", "C", "G", + "A", + "G", + "T", + "TC", + "C", + "T", "C", "G", + "A", + "T", + "G", "C", "G", "G", "G", "A", + "TT", + "C", + "A", + "G", + "T", + "C", "C", "C", "C", "G", "G", - "T" - ], - "cpicAlleles": [ + "G", + "C", + "C", + "C", + "G", + "A", + "T", + "G", + "G", + "T", + "A", + "G", "T", "C", "C", "G", "G", + "T", "C", + "A", + "G", + "G" + ], + "cpicAlleles": [ + "T", + "TGA", + "A", + "T", "G", "C", + "G", "C", - "A", "G", + "T", + "C", "C", "G", "C", "C", "G", + "A", "C", "G", "G", + "G", + "A", + "G", + "G", "C", + "A", "G", - "GAG", + "C", + "G", + "T", + "A", + "G", + "C", "G", "C", + "del", "G", "G", "G", + "C", + "C", "G", "C", "C", "G", + "A", "C", + "T", + "G", + "T", + "A", "G", "C", "G", + "T", "G", + "C", "G", - "A", "C", + "G", + "G", + "G", "C", "C", "G", "G", - "T" - ], - "populationFrequency": null, - "reference": true, - "numCombinations": 0, - "numPartials": 0 + "G", + "G", + "G", + "C", + "G", + "G", + "G", + "C", + "C", + "A", + "G", + "A", + "A", + "A", + "A", + "C", + "C", + "C", + "T", + "A", + "G", + "A", + "C", + "T", + "C", + "T", + "C", + "A", + "T", + "C", + "A", + "G", + "T", + "G", + "G", + "G", + "C", + "G", + "G", + "C", + "G", + "G", + "A", + "G", + "C", + "C", + "C", + "G", + "T", + "G", + "C", + "G", + "G", + "C", + "G", + "C", + "G", + "A", + "A", + "G", + "T", + "A", + "G", + "C", + "G", + "GAG", + "A", + "G", + "G", + "C", + "T", + 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"38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" - ] - } - ], - "haplotypeMatches": [], - "phased": false, - "variants": [ + "position": 38516184, + "rsid": "rs553055844", + "vcfCall": "G/G", + "phased": false + }, { - "position": 38440802, - "rsid": "rs193922747", + "position": 38516208, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38517431, + "rsid": "rs375626634", "vcfCall": "T/T", "phased": false }, { - "position": 38440829, - "rsid": "rs193922748", + "position": 38517470, + "rsid": null, + "vcfCall": "T/T", + 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"rs193922839", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38535197, + "rsid": "rs111565359", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38535998, + "rsid": "rs140616359", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38543365, + "rsid": "rs148399313", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38543380, + "rsid": null, + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38543405, + "rsid": "rs193922840", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38543551, + "rsid": "rs147136339", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38543566, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38543810, + "rsid": null, "vcfCall": "C/C", "phased": false }, { - "position": 38444211, - "rsid": "rs118192161", + "position": 38543816, + "rsid": "rs118204422", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38543821, + "rsid": "rs193922842", "vcfCall": "C/C", "phased": false }, { - "position": 38444212, - "rsid": "rs193922753", + "position": 38543832, + "rsid": "rs193922843", "vcfCall": "G/G", "phased": false }, { - "position": 38446710, - "rsid": "rs1801086", + "position": 38546460, + "rsid": "rs755088027", "vcfCall": "G/G", "phased": false }, { - "position": 38448673, - "rsid": "rs193922762", - "vcfCall": "C/C", + "position": 38546496, + "rsid": "rs773040531", + "vcfCall": "A/A", "phased": false }, { - "position": 38448712, - "rsid": "rs121918592", - "vcfCall": "G/G", + "position": 38548253, + "rsid": null, + "vcfCall": "A/A", "phased": false }, { - "position": 38451842, - "rsid": "rs193922764", + "position": 38548259, + "rsid": "rs144685735", "vcfCall": "C/C", "phased": false }, { - "position": 38451850, - "rsid": "rs118192116", + "position": 38548287, + "rsid": "rs193922844", "vcfCall": "C/C", "phased": false }, { - "position": 38455359, - "rsid": "rs118192162", - "vcfCall": "A/A", + "position": 38548380, + "rsid": "rs373406011", + "vcfCall": "C/C", "phased": false }, { - "position": 38455463, - "rsid": "rs111888148", + "position": 38561140, + "rsid": null, "vcfCall": "G/G", "phased": false }, { - "position": 38455471, - "rsid": "rs193922768", + "position": 38561185, + "rsid": "rs193922848", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38561213, + "rsid": null, "vcfCall": "C/C", "phased": false }, { - "position": 38455472, - "rsid": "rs144336148", - "vcfCall": "G/G", + "position": 38561228, + "rsid": "rs201321695", + "vcfCall": "A/A", "phased": false }, { - "position": 38455528, - "rsid": "rs193922770", + "position": 38561236, + "rsid": "rs193922849", "vcfCall": "C/C", "phased": false }, { - "position": 38457545, - "rsid": "rs118192172", - "vcfCall": "C/C", + "position": 38561243, + "rsid": "rs193922850", + "vcfCall": "T/T", "phased": false }, { - "position": 38457546, - "rsid": "rs193922772", + "position": 38561362, + "rsid": null, "vcfCall": "G/G", "phased": false }, { - "position": 38494564, - "rsid": "rs118192175", - "vcfCall": "C/C", + "position": 38561363, + "rsid": null, + "vcfCall": "G/G", "phased": false }, { - "position": 38494565, - "rsid": "rs118192163", + "position": 38561383, + "rsid": "rs151119428", "vcfCall": "G/G", "phased": false }, { - "position": 38494579, - "rsid": "rs118192176", + "position": 38565023, + "rsid": null, + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38565034, + "rsid": "rs193922852", "vcfCall": "G/G", "phased": false }, { - "position": 38496283, - "rsid": "rs118192177", + "position": 38565182, + "rsid": "rs193922853", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38565215, + "rsid": "rs587784372", "vcfCall": "C/C", "phased": false }, { - "position": 38499223, - "rsid": "rs112563513", - "vcfCall": "G/G", + "position": 38565218, + "rsid": "rs193922855", + "vcfCall": "C/C", "phased": false }, { - "position": 38499644, - "rsid": "rs121918596", - "vcfCall": "TGGA/TGGA", + "position": 38566978, + "rsid": "rs139647387", + "vcfCall": "A/A", "phased": false }, { - "position": 38499655, - "rsid": "rs193922802", + "position": 38566986, + "rsid": "rs150396398", "vcfCall": "G/G", "phased": false }, { - "position": 38499670, - "rsid": "rs193922803", + "position": 38570619, + "rsid": "rs771741606", "vcfCall": "C/C", "phased": false }, { - "position": 38499731, - "rsid": "rs193922807", + "position": 38570620, + "rsid": "rs118192130", "vcfCall": "G/G", "phased": false }, { - "position": 38499975, - "rsid": "rs193922809", - "vcfCall": "G/G", + "position": 38570649, + "rsid": null, + "vcfCall": "C/C", "phased": false }, { - "position": 38499993, - "rsid": "rs121918593", + "position": 38572032, + "rsid": "rs143520367", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38572185, + "rsid": "rs118192135", "vcfCall": "G/G", "phased": false }, { - "position": 38499997, - "rsid": "rs28933396", + "position": 38572190, + "rsid": "rs756850145", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38572206, + "rsid": "rs193922860", "vcfCall": "G/G", "phased": false }, { - "position": 38500636, - "rsid": "rs118192124", + "position": 38572262, + "rsid": "rs759500310", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38572266, + "rsid": "rs193922862", + "vcfCall": "TC/TC", + "phased": false + }, + { + "position": 38573180, + "rsid": "rs193922863", "vcfCall": "C/C", "phased": false }, { - "position": 38500642, - "rsid": "rs193922816", + "position": 38573229, + "rsid": "rs193922864", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38573304, + "rsid": "rs118192140", "vcfCall": "C/C", "phased": false }, { - "position": 38500643, - "rsid": "rs118192122", + "position": 38575957, + "rsid": "rs200766617", "vcfCall": "G/G", "phased": false }, { - "position": 38500654, - "rsid": "rs28933397", - "vcfCall": "C/C", + "position": 38577931, + "rsid": null, + "vcfCall": "A/A", "phased": false }, { - "position": 38500655, - "rsid": "rs121918594", + "position": 38577942, + "rsid": "rs193922865", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38577946, + "rsid": "rs193922866", "vcfCall": "G/G", "phased": false }, { - "position": 38500898, - "rsid": "rs118192178", + "position": 38577954, + "rsid": "rs193922867", "vcfCall": "C/C", "phased": false }, { - "position": 38500899, - "rsid": "rs193922818", + "position": 38577955, + "rsid": "rs193922868", "vcfCall": "G/G", "phased": false }, { - "position": 38512321, - "rsid": "rs193922832", + "position": 38578015, + "rsid": "rs768360593", "vcfCall": "G/G", "phased": false }, { - "position": 38543832, - "rsid": "rs193922843", + "position": 38578205, + "rsid": null, "vcfCall": "G/G", "phased": false }, @@ -8288,6 +11354,36 @@ "vcfCall": "A/A", "phased": false }, + { + "position": 38580039, + "rsid": null, + "vcfCall": "TT/TT", + "phased": false + }, + { + "position": 38580041, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580066, + "rsid": "rs143988412", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38580075, + "rsid": "rs193922873", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38580088, + "rsid": "rs193922874", + "vcfCall": "T/T", + "phased": false + }, { "position": 38580094, "rsid": "rs121918595", @@ -8300,29 +11396,161 @@ "vcfCall": "C/C", "phased": false }, + { + "position": 38580126, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, { "position": 38580370, "rsid": "rs193922878", "vcfCall": "C/C", "phased": false }, + { + "position": 38580382, + "rsid": "rs193922879", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38580397, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, { "position": 38580403, "rsid": "rs118192168", "vcfCall": "G/G", "phased": false }, + { + "position": 38580416, + "rsid": null, + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580425, + "rsid": "rs193922880", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38580439, + "rsid": "rs118192181", + "vcfCall": "C/C", + "phased": false + }, { "position": 38580440, "rsid": "rs63749869", "vcfCall": "G/G", "phased": false }, + { + "position": 38580485, + "rsid": "rs113210953", + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38580497, + "rsid": "rs193922883", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38584974, + "rsid": "rs118192151", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38584976, + "rsid": "rs193922888", + "vcfCall": "G/G", + "phased": false + }, { "position": 38584989, "rsid": "rs118192170", "vcfCall": "T/T", "phased": false + }, + { + "position": 38585078, + "rsid": null, + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38585099, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38585947, + "rsid": "rs111657878", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38585948, + "rsid": "rs118192159", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38585951, + "rsid": "rs193922895", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38585952, + "rsid": "rs118192158", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38585959, + "rsid": "rs193922896", + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38586101, + "rsid": "rs193922898", + "vcfCall": "T/T", + "phased": false + }, + { + "position": 38586140, + "rsid": "rs146876145", + "vcfCall": "C/C", + "phased": false + }, + { + "position": 38586190, + "rsid": null, + "vcfCall": "A/A", + "phased": false + }, + { + "position": 38587362, + "rsid": null, + "vcfCall": "G/G", + "phased": false + }, + { + "position": 38587363, + "rsid": null, + "vcfCall": "G/G", + "phased": false } ], "variantsOfInterest": [], @@ -8340,7 +11568,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr12", "gene": "SLCO1B1", "diplotypes": [ @@ -8796,7 +12024,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr6", "gene": "TPMT", "diplotypes": [ @@ -9396,7 +12624,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr2", "gene": "UGT1A1", "diplotypes": [ @@ -9528,7 +12756,7 @@ }, { "source": "CPIC", - "version": "v1.32.0", + "version": "v1.35.0-2-gf40f6f6", "chromosome": "chr16", "gene": "VKORC1", "diplotypes": [ diff --git a/docs/examples/pharmcat.example2.phenotype.json b/docs/examples/pharmcat.example2.phenotype.json index 27c7fe0bb..38500ba42 100644 --- a/docs/examples/pharmcat.example2.phenotype.json +++ b/docs/examples/pharmcat.example2.phenotype.json @@ -2,9 +2,9 @@ "geneReports": { "CPIC": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "ABCG2", "chr": "chr4", @@ -107,9 +107,9 @@ "treatUndocumentedVariationsAsReference": false }, "CACNA1S": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CACNA1S", "chr": "chr1", @@ -234,9 +234,9 @@ "treatUndocumentedVariationsAsReference": false }, "CFTR": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CFTR", "chr": "chr7", @@ -871,9 +871,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -1668,9 +1668,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -2303,9 +2303,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -3546,7 +3546,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2D6", "chr": null, @@ -3634,9 +3634,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -3803,7 +3803,7 @@ "treatUndocumentedVariationsAsReference": false }, "CYP4F2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -4078,9 +4078,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "DPYD", "chr": "chr1", @@ -5367,9 +5367,9 @@ "treatUndocumentedVariationsAsReference": false }, "G6PD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "G6PD", "chr": "chrX", @@ -8065,9 +8065,9 @@ "treatUndocumentedVariationsAsReference": false }, "IFNL3": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "IFNL3", "chr": "chr19", @@ -8172,7 +8172,7 @@ "MT-RNR1": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "MT-RNR1", "chr": null, @@ -8248,9 +8248,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "NUDT15", "chr": "chr13", @@ -8588,9 +8588,9 @@ "treatUndocumentedVariationsAsReference": false }, "RYR1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "RYR1", "chr": "chr19", @@ -8681,6 +8681,48 @@ } ], "variants": [ + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38433867, + "dbSnpId": "rs193922744", + "call": "T/T", + "alleles": [ + "c.38T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440747, + "dbSnpId": "rs193922745", + "call": "CGAT/CGAT", + "alleles": [ + "c.51_53del" + ], + "phased": false, + "wildtypeAllele": "CGAT", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440796, + "dbSnpId": "rs193922746", + "call": "A/A", + "alleles": [ + "c.97A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8695,6 +8737,20 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440818, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.119G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8709,6 +8765,161 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440830, + "dbSnpId": "rs139161723", + "call": "G/G", + "alleles": [ + "c.131G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440851, + "dbSnpId": "rs193922749", + "call": "C/C", + "alleles": [ + "c.152C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442361, + "dbSnpId": "rs118192160", + "call": "G/G", + "alleles": [ + "c.178G>A", + "c.178G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442373, + "dbSnpId": "rs995399438", + "call": "T/T", + "alleles": [ + "c.190T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442395, + "dbSnpId": "rs118192113", + "call": "C/C", + "alleles": [ + "c.212C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442434, + "dbSnpId": "rs186983396", + "call": "C/C", + "alleles": [ + "c.251C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38443790, + "dbSnpId": "rs142474192", + "call": "G/G", + "alleles": [ + "c.418G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444179, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.455C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444187, + "dbSnpId": "rs193922750", + "call": "C/C", + "alleles": [ + "c.463C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444191, + "dbSnpId": "rs193922751", + "call": "G/G", + "alleles": [ + "c.467G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444203, + "dbSnpId": "rs193922752", + "call": "A/A", + "alleles": [ + "c.479A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -8730,6 +8941,7 @@ "dbSnpId": "rs193922753", "call": "G/G", "alleles": [ + "c.488G>A", "c.488G>T" ], "phased": false, @@ -8740,12 +8952,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38446710, - "dbSnpId": "rs1801086", + "position": 38444217, + "dbSnpId": "rs193922754", "call": "G/G", "alleles": [ - "c.742G>A", - "c.742G>C" + "c.493G>A" ], "phased": false, "wildtypeAllele": "G", @@ -8755,26 +8966,3589 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38448673, - "dbSnpId": "rs193922762", + "position": 38444220, + "dbSnpId": "rs193922755", + "call": "G/G", + "alleles": [ + "c.496G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444221, + "dbSnpId": "rs193922756", + "call": "A/A", + "alleles": [ + "c.497A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444250, + "dbSnpId": "rs761616815", + "call": "G/G", + "alleles": [ + "c.526G>A" + ], + 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+ ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446481, + "dbSnpId": "rs727504129", "call": "C/C", "alleles": [ - "c.982C>T" + "c.641C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446492, + "dbSnpId": "rs193922759", + "call": "G/G", + "alleles": [ + "c.652G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446517, + "dbSnpId": "rs112596687", + "call": "T/T", + "alleles": [ + "c.677T>A" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446520, + "dbSnpId": "rs193922760", + "call": "A/A", + 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+ "call": "G/G", + "alleles": [ + "c.13513G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38570619, + "dbSnpId": "rs771741606", + "call": "C/C", + "alleles": [ + "c.13672C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38570620, + "dbSnpId": "rs118192130", + "call": "G/G", + "alleles": [ + "c.13673G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38570649, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.13702C>G" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572032, + "dbSnpId": "rs143520367", + "call": "C/C", + "alleles": [ + "c.13760C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572185, + "dbSnpId": "rs118192135", + "call": "G/G", + "alleles": [ + "c.13913G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572190, + "dbSnpId": "rs756850145", + "call": "A/A", + "alleles": [ + "c.13918A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572206, + "dbSnpId": "rs193922860", + "call": "G/G", + "alleles": [ + "c.13934G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572262, + "dbSnpId": "rs759500310", + "call": "T/T", + "alleles": [ + "c.13990T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38572266, + "dbSnpId": "rs193922862", + "call": "TC/TC", + "alleles": [ + "c.13994_13995delTCinsCT" + ], + "phased": false, + "wildtypeAllele": "TC", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38573180, + "dbSnpId": "rs193922863", + "call": "C/C", + "alleles": [ + "c.14002C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38573229, + "dbSnpId": "rs193922864", + "call": "T/T", + "alleles": [ + "c.14051T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38573304, + "dbSnpId": "rs118192140", + "call": "C/C", + "alleles": [ + "c.14126C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38575957, + "dbSnpId": "rs200766617", + "call": "G/G", + "alleles": [ + "c.14168G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577931, + "dbSnpId": null, + "call": "A/A", + "alleles": [ + "c.14186A>C" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38577942, + "dbSnpId": "rs193922865", + "call": "T/T", + "alleles": [ + "c.14197T>G" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38448712, - "dbSnpId": "rs121918592", + "position": 38577946, + "dbSnpId": "rs193922866", "call": "G/G", "alleles": [ - "c.1021G>A", - "c.1021G>C" + "c.14201G>A" ], "phased": false, "wildtypeAllele": "G", @@ -8784,11 +12558,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451842, - "dbSnpId": "rs193922764", + "position": 38577954, + "dbSnpId": "rs193922867", "call": "C/C", "alleles": [ - "c.1201C>T" + "c.14209C>T" ], "phased": false, "wildtypeAllele": "C", @@ -8798,39 +12572,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451850, - "dbSnpId": "rs118192116", - "call": "C/C", + "position": 38577955, + "dbSnpId": "rs193922868", + "call": "G/G", "alleles": [ - "c.1209C>G" + "c.14210G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455359, - "dbSnpId": "rs118192162", - "call": "A/A", + "position": 38578015, + "dbSnpId": "rs768360593", + "call": "G/G", "alleles": [ - "c.1565A>C" + "c.14270G>A" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455463, - "dbSnpId": "rs111888148", + "position": 38578205, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.1589G>A" + "c.14364+1G>T" ], "phased": false, "wildtypeAllele": "G", @@ -8840,39 +12614,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455471, - "dbSnpId": "rs193922768", - "call": "C/C", + "position": 38580004, + "dbSnpId": "rs118192167", + "call": "A/A", "alleles": [ - "c.1597C>T" + "c.14387A>G" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455472, - "dbSnpId": "rs144336148", - "call": "G/G", + "position": 38580039, + "dbSnpId": null, + "call": "TT/TT", "alleles": [ - "c.1598G>A" + "c.14422_14423delinsAA" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "TT", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38455528, - "dbSnpId": "rs193922770", + "position": 38580041, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.1654C>T" + "c.14424C>A" ], "phased": false, "wildtypeAllele": "C", @@ -8882,25 +12656,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38457545, - "dbSnpId": "rs118192172", - "call": "C/C", + "position": 38580066, + "dbSnpId": "rs143988412", + "call": "A/A", "alleles": [ - "c.1840C>T" + "c.14449A>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38457546, - "dbSnpId": "rs193922772", + "position": 38580075, + "dbSnpId": "rs193922873", "call": "G/G", "alleles": [ - "c.1841G>T" + "c.14458G>A", + "c.14458G>T" ], "phased": false, "wildtypeAllele": "G", @@ -8910,11 +12685,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494564, - "dbSnpId": "rs118192175", + "position": 38580088, + "dbSnpId": "rs193922874", + "call": "T/T", + "alleles": [ + "c.14471T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580094, + "dbSnpId": "rs121918595", "call": "C/C", "alleles": [ - "c.6487C>T" + "c.14477C>T" ], "phased": false, "wildtypeAllele": "C", @@ -8924,40 +12713,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494565, - "dbSnpId": "rs118192163", - "call": "G/G", + "position": 38580114, + "dbSnpId": "rs193922876", + "call": "C/C", "alleles": [ - "c.6488G>A" + "c.14497C>T" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38494579, - "dbSnpId": "rs118192176", - "call": "G/G", + "position": 38580126, + "dbSnpId": null, + "call": "C/C", "alleles": [ - "c.6502G>A" + "c.14509C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38496283, - "dbSnpId": "rs118192177", + "position": 38580370, + "dbSnpId": "rs193922878", "call": "C/C", "alleles": [ - "c.6617C>G", - "c.6617C>T" + "c.14512C>G" ], "phased": false, "wildtypeAllele": "C", @@ -8967,11 +12755,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499223, - "dbSnpId": "rs112563513", + "position": 38580382, + "dbSnpId": "rs193922879", "call": "G/G", "alleles": [ - "c.7007G>A" + "c.14524G>A" ], "phased": false, "wildtypeAllele": "G", @@ -8981,25 +12769,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499644, - "dbSnpId": "rs121918596", - "call": "TGGA/TGGA", + "position": 38580397, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.7042_7044delGAG" + "c.14539G>C" ], "phased": false, - "wildtypeAllele": "TGGA", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499655, - "dbSnpId": "rs193922802", + "position": 38580403, + "dbSnpId": "rs118192168", "call": "G/G", "alleles": [ - "c.7048G>A" + "c.14545G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9009,11 +12797,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499670, - "dbSnpId": "rs193922803", + "position": 38580416, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.7063C>T" + "c.14558C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9023,39 +12811,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499731, - "dbSnpId": "rs193922807", - "call": "G/G", + "position": 38580425, + "dbSnpId": "rs193922880", + "call": "C/C", "alleles": [ - "c.7124G>C" + "c.14567C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499975, - "dbSnpId": "rs193922809", - "call": "G/G", + "position": 38580439, + "dbSnpId": "rs118192181", + "call": "C/C", "alleles": [ - "c.7282G>A" + "c.14581C>T" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499993, - "dbSnpId": "rs121918593", + "position": 38580440, + "dbSnpId": "rs63749869", "call": "G/G", "alleles": [ - "c.7300G>A" + "c.14582G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9065,53 +12853,53 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499997, - "dbSnpId": "rs28933396", - "call": "G/G", + "position": 38580485, + "dbSnpId": "rs113210953", + "call": "A/A", "alleles": [ - "c.7304G>A" + "c.14627A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500636, - "dbSnpId": "rs118192124", - "call": "C/C", + "position": 38580497, + "dbSnpId": "rs193922883", + "call": "T/T", "alleles": [ - "c.7354C>T" + "c.14639T>C" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500642, - "dbSnpId": "rs193922816", - "call": "C/C", + "position": 38584974, + "dbSnpId": "rs118192151", + "call": "G/G", "alleles": [ - "c.7360C>T" + "c.14678G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500643, - "dbSnpId": "rs118192122", + "position": 38584976, + "dbSnpId": "rs193922888", "call": "G/G", "alleles": [ - "c.7361G>A" + "c.14680G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9121,138 +12909,137 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500654, - "dbSnpId": "rs28933397", - "call": "C/C", + "position": 38584989, + "dbSnpId": "rs118192170", + "call": "T/T", "alleles": [ - "c.7372C>T" + "c.14693T>C" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500655, - "dbSnpId": "rs121918594", - "call": "G/G", + "position": 38585078, + "dbSnpId": null, + "call": "A/A", "alleles": [ - "c.7373G>A" + "c.14782A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500898, - "dbSnpId": "rs118192178", - "call": "C/C", + "position": 38585099, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.7522C>G", - "c.7522C>T" + "c.14803G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500899, - "dbSnpId": "rs193922818", - "call": "G/G", + "position": 38585947, + "dbSnpId": "rs111657878", + "call": "T/T", "alleles": [ - "c.7523G>A" + "c.14813T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38512321, - "dbSnpId": "rs193922832", - "call": "G/G", + "position": 38585948, + "dbSnpId": "rs118192159", + "call": "C/C", "alleles": [ - "c.9310G>A" + "c.14814C>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38543832, - "dbSnpId": "rs193922843", - "call": "G/G", + "position": 38585951, + "dbSnpId": "rs193922895", + "call": "C/C", "alleles": [ - "c.11969G>T" + "c.14817C>A" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580004, - "dbSnpId": "rs118192167", - "call": "A/A", + "position": 38585952, + "dbSnpId": "rs118192158", + "call": "G/G", "alleles": [ - "c.14387A>G" + "c.14818G>A" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580094, - "dbSnpId": "rs121918595", - "call": "C/C", + "position": 38585959, + "dbSnpId": "rs193922896", + "call": "G/G", "alleles": [ - "c.14477C>T" + "c.14825G>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580114, - "dbSnpId": "rs193922876", - "call": "C/C", + "position": 38586101, + "dbSnpId": "rs193922898", + "call": "T/T", "alleles": [ - "c.14497C>T" + "c.14879T>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580370, - "dbSnpId": "rs193922878", + "position": 38586140, + "dbSnpId": "rs146876145", "call": "C/C", "alleles": [ - "c.14512C>G" + "c.14918C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9262,25 +13049,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38580403, - "dbSnpId": "rs118192168", - "call": "G/G", + "position": 38586190, + "dbSnpId": null, + "call": "A/A", "alleles": [ - "c.14545G>A" + "c.14968A>G" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "A", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38580440, - "dbSnpId": "rs63749869", + "position": 38587362, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.14582G>A" + "c.15059G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9290,14 +13077,14 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38584989, - "dbSnpId": "rs118192170", - "call": "T/T", + "position": 38587363, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.14693T>C" + "c.15060G>C" ], "phased": false, - "wildtypeAllele": "T", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] } @@ -9307,9 +13094,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -9884,9 +13671,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "TPMT", "chr": "chr6", @@ -10589,9 +14376,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -10750,7 +14537,7 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -10849,9 +14636,9 @@ }, "DPWG": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "ABCG2", "chr": "chr4", @@ -10954,9 +14741,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -11751,9 +15538,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -12386,9 +16173,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -13629,7 +17416,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2D6", "chr": null, @@ -13717,9 +17504,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A4": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A4", "chr": "chr7", @@ -13828,7 +17615,7 @@ "gene": "CYP3A4", "chromosome": "chr7", "position": 99758228, - "dbSnpId": null, + "dbSnpId": "rs1584538410", "call": "T/T", "alleles": [ "*46" @@ -14408,9 +18195,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -14577,9 +18364,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "DPYD", "chr": "chr1", @@ -15866,9 +19653,9 @@ "treatUndocumentedVariationsAsReference": false }, "F5": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "F5", "chr": "chr1", @@ -16143,9 +19930,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "NUDT15", "chr": "chr13", @@ -16483,9 +20270,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -17060,9 +20847,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "TPMT", "chr": "chr6", @@ -17765,9 +21552,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -17926,9 +21713,9 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "VKORC1", "chr": "chr16", diff --git a/docs/examples/pharmcat.example2.report.html b/docs/examples/pharmcat.example2.report.html index 8b3659ca6..2ad5b4035 100644 --- a/docs/examples/pharmcat.example2.report.html +++ b/docs/examples/pharmcat.example2.report.html @@ -404,9 +404,9 @@
    - - - + + +
    Date createdOctober 27, 2023
    PharmCAT Versionv2.8.3-5-gb037a140
    CPIC Versionv1.32.0
    Date createdDecember 19, 2023
    PharmCAT Versionv2.8.3-13-g5cb67175
    CPIC Versionv1.35.0-2-gf40f6f6
    @@ -2718,7 +2718,7 @@

    clopidogrel

    		 CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular eventsAvoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication. + Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    Other Considerations

    For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication.    		 Strong CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular eventsAvoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication. + Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    Other Considerations

    For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI.    		 Moderate
    @@ -2983,7 +2983,7 @@

    desflurane

    CPIC - 1, 2 + 1

    @@ -2996,7 +2996,7 @@

    desflurane

  • - CACNA1S:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -3008,45 +3008,7 @@

    desflurane

    -
    • - - - - - - - - - - - + @@ -3366,7 +3328,7 @@

    Other Considerations

    enflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    -     		-
    Genotype
    -
      - -
    • - - RYR1:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -3390,45 +3352,7 @@

    enflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -4097,7 +4021,7 @@

    fosphenytoin

    halothane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -3441,7 +3365,7 @@

    enflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -3453,7 +3377,7 @@

    enflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -4121,45 +4045,7 @@

    halothane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -4587,7 +4473,7 @@

    irinotecan

    isoflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -4172,7 +4058,7 @@

    halothane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -4184,7 +4070,7 @@

    halothane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -4611,45 +4497,7 @@

    isoflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -5316,7 +5164,7 @@

    Other Considerations

    methoxyflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -4662,7 +4510,7 @@

    isoflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -4674,7 +4522,7 @@

    isoflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -5340,45 +5188,7 @@

    methoxyflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -7056,7 +6866,7 @@

    sertraline

    sevoflurane

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -5391,7 +5201,7 @@

    methoxyflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -5403,7 +5213,7 @@

    methoxyflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -7080,45 +6890,7 @@

    sevoflurane

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -7374,7 +7146,7 @@

    siponimod

    succinylcholine

    -
    If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -7131,7 +6903,7 @@

    sevoflurane

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -7143,7 +6915,7 @@

    sevoflurane

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    @@ -7398,45 +7170,7 @@

    succinylcholine

    CPIC - 1, 2 - - -

    -

    Population:
    general

    -
    Other Guidance
    - - - - - - - - - - - - - + @@ -14205,7 +13939,7 @@

    Calls at Positions

    - + @@ -22767,6 +22501,8 @@

    RYR1 allele match data

    +
    If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility.
    +
    The RYR1 Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.
    @@ -22787,8 +22523,8 @@

    Calls at Positions

    - - + + @@ -22800,7 +22536,7 @@

    Calls at Positions

      -
    • c.103T>C - Malignant Hyperthermia associated
      • +
    • c.38T>G - Malignant Hyperthermia associated
    @@ -22811,20 +22547,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -22896,9 +22632,7 @@

    Calls at Positions

      -
    • c.742G>A - Malignant Hyperthermia associated
      • - -
    • c.742G>C - Malignant Hyperthermia associated
      • +
    • c.119G>C - Uncertain function
    @@ -22909,8 +22643,8 @@

    Calls at Positions

    - - + + @@ -22922,7 +22656,7 @@

    Calls at Positions

      -
    • c.982C>T - Malignant Hyperthermia associated
      • +
    • c.130C>T - Malignant Hyperthermia associated
    @@ -22933,8 +22667,8 @@

    Calls at Positions

    - - + + @@ -22946,9 +22680,7 @@

    Calls at Positions

      -
    • c.1021G>A - Malignant Hyperthermia associated
      • - -
    • c.1021G>C - Malignant Hyperthermia associated
      • +
    • c.131G>A - Uncertain function
    @@ -22959,8 +22691,8 @@

    Calls at Positions

    - - + + @@ -22972,7 +22704,7 @@

    Calls at Positions

      -
    • c.1201C>T - Malignant Hyperthermia associated
      • +
    • c.152C>A - Uncertain function
    @@ -22983,20 +22715,22 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -23068,7 +22802,7 @@

    Calls at Positions

      -
    • c.1597C>T - Malignant Hyperthermia associated
      • +
    • c.251C>T - Uncertain function
    @@ -23079,8 +22813,8 @@

    Calls at Positions

    - - + + @@ -23092,7 +22826,7 @@

    Calls at Positions

      -
    • c.1598G>A - Uncertain function
      • +
    • c.418G>A - Normal function
    @@ -23103,8 +22837,8 @@

    Calls at Positions

    - - + + @@ -23116,7 +22850,7 @@

    Calls at Positions

      -
    • c.1654C>T - Malignant Hyperthermia associated
      • +
    • c.455C>A - Uncertain function
    @@ -23127,8 +22861,8 @@

    Calls at Positions

    - - + + @@ -23140,7 +22874,7 @@

    Calls at Positions

      -
    • c.1840C>T - Malignant Hyperthermia associated
      • +
    • c.463C>A - Malignant Hyperthermia associated
    @@ -23151,8 +22885,8 @@

    Calls at Positions

    - - + + @@ -23164,7 +22898,7 @@

    Calls at Positions

      -
    • c.1841G>T - Malignant Hyperthermia associated
      • +
    • c.467G>A - Uncertain function
    @@ -23175,8 +22909,32 @@

    Calls at Positions

    - - + + + + + + + + + + + + + + @@ -23188,7 +22946,7 @@

    Calls at Positions

      -
    • c.6487C>T - Malignant Hyperthermia associated
      • +
    • c.487C>T - Malignant Hyperthermia associated
    @@ -23199,8 +22957,8 @@

    Calls at Positions

    - - + + @@ -23212,7 +22970,9 @@

    Calls at Positions

      -
    • c.6488G>A - Malignant Hyperthermia associated
      • +
    • c.488G>A - Uncertain function
      • + +
    • c.488G>T - Malignant Hyperthermia associated
    @@ -23223,8 +22983,8 @@

    Calls at Positions

    - - + + @@ -23236,7 +22996,7 @@

    Calls at Positions

      -
    • c.6502G>A - Malignant Hyperthermia associated
      • +
    • c.493G>A - Uncertain function
    @@ -23247,22 +23007,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + - + - - + + @@ -23334,7 +23092,7 @@

    Calls at Positions

      -
    • c.7048G>A - Malignant Hyperthermia associated
      • +
    • c.528G>T - Uncertain function
    @@ -23345,8 +23103,8 @@

    Calls at Positions

    - - + + @@ -23358,7 +23116,7 @@

    Calls at Positions

      -
    • c.7063C>T - Malignant Hyperthermia associated
      • +
    • c.529C>T - Malignant Hyperthermia associated
    @@ -23369,20 +23127,22 @@

    Calls at Positions

    - - + + - + - - + + @@ -23406,7 +23166,7 @@

    Calls at Positions

      -
    • c.7282G>A - Malignant Hyperthermia associated
      • +
    • c.625G>A - Uncertain function
    @@ -23417,20 +23177,20 @@

    Calls at Positions

    - - + + - + - - + + @@ -23454,7 +23214,7 @@

    Calls at Positions

      -
    • c.7304G>A - Malignant Hyperthermia associated
      • +
    • c.652G>A - Uncertain function
    @@ -23465,20 +23225,20 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + @@ -23526,7 +23286,9 @@

    Calls at Positions

      -
    • c.7361G>A - Malignant Hyperthermia associated
      • +
    • c.742G>A - Malignant Hyperthermia associated
      • + +
    • c.742G>C - Malignant Hyperthermia associated
    @@ -23537,8 +23299,8 @@

    Calls at Positions

    - - + + @@ -23550,7 +23312,7 @@

    Calls at Positions

      -
    • c.7372C>T - Malignant Hyperthermia associated
      • +
    • c.946C>T - Uncertain function
    @@ -23561,8 +23323,8 @@

    Calls at Positions

    - - + + @@ -23574,7 +23336,7 @@

    Calls at Positions

      -
    • c.7373G>A - Malignant Hyperthermia associated
      • +
    • c.947G>T - Uncertain function
    @@ -23585,8 +23347,8 @@

    Calls at Positions

    - - + + @@ -23598,9 +23360,7 @@

    Calls at Positions

      -
    • c.7522C>G - Malignant Hyperthermia associated
      • - -
    • c.7522C>T - Malignant Hyperthermia associated
      • +
    • c.982C>T - Malignant Hyperthermia associated
    @@ -23611,20 +23371,20 @@

    Calls at Positions

    - - + + - + - - + + @@ -23648,7 +23408,9 @@

    Calls at Positions

      -
    • c.9310G>A - Malignant Hyperthermia associated
      • +
    • c.1021G>A - Malignant Hyperthermia associated
      • + +
    • c.1021G>C - Malignant Hyperthermia associated
    @@ -23659,8 +23421,8 @@

    Calls at Positions

    - - + + @@ -23672,7 +23434,7 @@

    Calls at Positions

      -
    • c.11969G>T - Malignant Hyperthermia associated
      • +
    • c.1024G>A - Uncertain function
    @@ -23683,20 +23445,22 @@

    Calls at Positions

    - - + + - + - - + + @@ -23720,7 +23484,7 @@

    Calls at Positions

      -
    • c.14477C>T - Malignant Hyperthermia associated
      • +
    • c.1144C>A - Uncertain function
    @@ -23731,8 +23495,8 @@

    Calls at Positions

    - - + + @@ -23744,7 +23508,11 @@

    Calls at Positions

      -
    • c.14497C>T - Malignant Hyperthermia associated
      • +
    • c.1201C>A - Uncertain function
      • + +
    • c.1201C>G - Uncertain function
      • + +
    • c.1201C>T - Malignant Hyperthermia associated
    @@ -23755,20 +23523,22 @@

    Calls at Positions

    - - + + - + - - + + - + - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -23816,7 +29834,7 @@

    Calls at Positions

      -
    • c.14582G>A - Uncertain function
      • +
    • c.14803G>A - Malignant Hyperthermia associated
    @@ -23827,8 +29845,128 @@

    Calls at Positions

    - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -23840,7 +29978,103 @@

    Calls at Positions

      -
    • c.14693T>C - Malignant Hyperthermia associated
      • +
    • c.14879T>A - Uncertain function
      • + +
    + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + +
    -
    Genotype
    -
      - -
    • - - CACNA1S:Reference/
      Reference       - - -       - -
      • - -
    - - -     		These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675).Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.Strong
    -

    - CPIC - - - 1, 2 + 1

    @@ -7449,7 +7183,7 @@

    succinylcholine

  • - RYR1:Reference/
    Reference     + CACNA1S:Reference/
    Reference    ;
    RYR1:Reference/
    Reference         @@ -7461,7 +7195,7 @@

    succinylcholine

    		• These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data.These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong
    chr7:99758228rs1584538410 T/T
    chr19:38440802rs193922747chr19:38433867rs193922744 T/T
    chr19:38440829rs193922748chr19:38440747rs193922745C/CCGAT/CGAT - C + CGAT
      -
    • c.130C>T - Malignant Hyperthermia associated
      • +
    • c.51_53del - Uncertain function
    @@ -22835,20 +22571,20 @@

    Calls at Positions

    chr19:38444211rs118192161chr19:38440796rs193922746C/CA/A - C + A
      -
    • c.487C>T - Malignant Hyperthermia associated
      • +
    • c.97A>G - Malignant Hyperthermia associated
    @@ -22859,20 +22595,20 @@

    Calls at Positions

    chr19:38444212rs193922753chr19:38440802rs193922747G/GT/T - G + T
      -
    • c.488G>T - Malignant Hyperthermia associated
      • +
    • c.103T>C - Malignant Hyperthermia associated
    @@ -22883,8 +22619,8 @@

    Calls at Positions

    chr19:38446710rs1801086chr19:38440818 G/G
    chr19:38448673rs193922762chr19:38440829rs193922748 C/C
    chr19:38448712rs121918592chr19:38440830rs139161723 G/G
    chr19:38451842rs193922764chr19:38440851rs193922749 C/C
    chr19:38451850rs118192116chr19:38442361rs118192160C/CG/G - C + G
      -
    • c.1209C>G - Malignant Hyperthermia associated
      • +
    • c.178G>A - Uncertain function
      • + +
    • c.178G>T - Uncertain function
    @@ -23007,20 +22741,20 @@

    Calls at Positions

    chr19:38455359rs118192162chr19:38442373rs995399438A/AT/T - A + T
      -
    • c.1565A>C - Malignant Hyperthermia associated
      • +
    • c.190T>C - Uncertain function
    @@ -23031,20 +22765,20 @@

    Calls at Positions

    chr19:38455463rs111888148chr19:38442395rs118192113G/GC/C - G + C
      -
    • c.1589G>A - Malignant Hyperthermia associated
      • +
    • c.212C>A - Uncertain function
    @@ -23055,8 +22789,8 @@

    Calls at Positions

    chr19:38455471rs193922768chr19:38442434rs186983396 C/C
    chr19:38455472rs144336148chr19:38443790rs142474192 G/G
    chr19:38455528rs193922770chr19:38444179 C/C
    chr19:38457545rs118192172chr19:38444187rs193922750 C/C
    chr19:38457546rs193922772chr19:38444191rs193922751 G/G
    chr19:38494564rs118192175chr19:38444203rs193922752A/A + A + + +
      + +
    • c.479A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38444211rs118192161 C/C
    chr19:38494565rs118192163chr19:38444212rs193922753 G/G
    chr19:38494579rs118192176chr19:38444217rs193922754 G/G
    chr19:38496283rs118192177chr19:38444220rs193922755C/CG/G - C + G
      -
    • c.6617C>G - Malignant Hyperthermia associated
      • - -
    • c.6617C>T - Malignant Hyperthermia associated
      • +
    • c.496G>A - Uncertain function
    @@ -23273,20 +23031,20 @@

    Calls at Positions

    chr19:38499223rs112563513chr19:38444221rs193922756G/GA/A - G + A
      -
    • c.7007G>A - Malignant Hyperthermia associated
      • +
    • c.497A>G - Uncertain function
    @@ -23297,20 +23055,20 @@

    Calls at Positions

    chr19:38499644rs121918596chr19:38444250rs761616815TGGA/TGGAG/G - TGGA + G
      -
    • c.7042_7044delGAG - Malignant Hyperthermia associated
      • +
    • c.526G>A - Uncertain function
    @@ -23321,8 +23079,8 @@

    Calls at Positions

    chr19:38499655rs193922802chr19:38444252 G/G
    chr19:38499670rs193922803chr19:38444253rs193922757 C/C
    chr19:38499731rs193922807chr19:38444257G/GA/A - G + A
      -
    • c.7124G>C - Malignant Hyperthermia associated
      • +
    • c.533A>C - Uncertain function
      • + +
    • c.533A>G - Malignant Hyperthermia associated
    @@ -23393,8 +23153,8 @@

    Calls at Positions

    chr19:38499975rs193922809chr19:38444671rs771058055 G/G
    chr19:38499993rs121918593chr19:38446481rs727504129G/GC/C - G + C
      -
    • c.7300G>A - Malignant Hyperthermia associated
      • +
    • c.641C>T - Uncertain function
    @@ -23441,8 +23201,8 @@

    Calls at Positions

    chr19:38499997rs28933396chr19:38446492rs193922759 G/G
    chr19:38500636rs118192124chr19:38446517rs112596687C/CT/T - C + T
      -
    • c.7354C>T - Malignant Hyperthermia associated
      • +
    • c.677T>A - Uncertain function
    @@ -23489,20 +23249,20 @@

    Calls at Positions

    chr19:38500642rs193922816chr19:38446520rs193922760C/CA/A - C + A
      -
    • c.7360C>T - Malignant Hyperthermia associated
      • +
    • c.680A>T - Uncertain function
    @@ -23513,8 +23273,8 @@

    Calls at Positions

    chr19:38500643rs118192122chr19:38446710rs1801086 G/G
    chr19:38500654rs28933397chr19:38448500rs752652072 C/C
    chr19:38500655rs121918594chr19:38448501rs193922761 G/G
    chr19:38500898rs118192178chr19:38448673rs193922762 C/C
    chr19:38500899rs193922818chr19:38448680G/GT/T - G + T
      -
    • c.7523G>A - Malignant Hyperthermia associated
      • +
    • c.992_994dup - Uncertain function
    @@ -23635,8 +23395,8 @@

    Calls at Positions

    chr19:38512321rs193922832chr19:38448712rs121918592 G/G
    chr19:38543832rs193922843chr19:38448715 G/G
    chr19:38580004rs118192167chr19:38448791rs113332073A/AG/G - A + G
      -
    • c.14387A>G - Malignant Hyperthermia associated
      • +
    • c.1100G>A - Uncertain function
      • + +
    • c.1100G>T - Uncertain function
    @@ -23707,8 +23471,8 @@

    Calls at Positions

    chr19:38580094rs121918595chr19:38451785 C/C
    chr19:38580114rs193922876chr19:38451842rs193922764 C/C
    chr19:38580370rs193922878chr19:38451843rs193922766C/CG/G - C + G
      -
    • c.14512C>G - Malignant Hyperthermia associated
      • +
    • c.1202G>A - Malignant Hyperthermia associated
      • + +
    • c.1202G>T - Malignant Hyperthermia associated
    @@ -23779,20 +23549,20 @@

    Calls at Positions

    chr19:38580403rs118192168chr19:38451850rs118192116G/GC/C - G + C
      -
    • c.14545G>A - Malignant Hyperthermia associated
      • +
    • c.1209C>G - Uncertain function
    @@ -23803,8 +23573,6256 @@

    Calls at Positions

    chr19:38580440rs63749869chr19:38452985C/C + C + + +
      + +
    • c.1411C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38452996rs193922767G/G + G + + +
      + +
    • c.1422G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38455247rs147723844A/A + A + + +
      + +
    • c.1453A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38455253C/C + C + + +
      + +
    • c.1459C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38455254T/T + T + + +
      + +
    • c.1460T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38455269rs901087791G/G + G + + +
      + +
    • c.1475G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38455347T/T + T + + +
      + +
    • c.1553T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38455359rs118192162A/A + A + + +
      + +
    • c.1565A>C - Malignant Hyperthermia associated
      • + +
    • c.1565A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455463rs111888148G/G + G + + +
      + +
    • c.1589G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455471rs193922768C/C + C + + +
      + +
    • c.1597C>A - Uncertain function
      • + +
    • c.1597C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455472rs144336148G/G + G + + +
      + +
    • c.1598G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38455489rs193922769T/T + T + + +
      + +
    • c.1615T>C - Malignant Hyperthermia associated
      • + +
    • c.1615T>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455504G/G + G + + +
      + +
    • c.1630G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38455528rs193922770C/C + C + + +
      + +
    • c.1654C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38457539rs118204423G/G + G + + +
      + +
    • c.1834G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38457545rs118192172C/C + C + + +
      + +
    • c.1840C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38457546rs193922772G/G + G + + +
      + +
    • c.1841G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38458175rs747177274G/G + G + + +
      + +
    • c.2050G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38458247rs138874610G/G + G + + +
      + +
    • c.2122G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38460461rs376149732C/C + C + + +
      + +
    • c.2447C>T - Normal function
      • + +
    + +     		+ +
    chr19:38460551rs193922775C/C + C + + +
      + +
    • c.2537C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38463499rs370634440G/G + G + + +
      + +
    • c.2654G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38464649rs148623597G/G + G + + +
      + +
    • c.2797G>A - Normal function
      • + +
    + +     		+ +
    chr19:38466144rs778241277G/G + G + + +
      + +
    • c.2924G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466216rs180714609G/G + G + + +
      + +
    • c.2996G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466315rs141942845G/G + G + + +
      + +
    • c.3095G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38466347rs111272095C/C + C + + +
      + +
    • c.3127C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38466386rs2145447772G/G + G + + +
      + +
    • c.3166G>A - Uncertain function
      • + +
    • c.3166G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38466392G/G + G + + +
      + +
    • c.3172G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38467655rs749040743G/G + G + + +
      + +
    • c.3224G>A - Normal function
      • + +
    + +     		+ +
    chr19:38469002rs193922776C/C + C + + +
      + +
    • c.3418C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38469111rs549201486C/C + C + + +
      + +
    • c.3527C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38469404A/A + A + + +
      + +
    • c.3656A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38469415rs936513262G/G + G + + +
      + +
    • c.3667G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38473635rs34694816A/A + A + + +
      + +
    • c.4024A>G - Normal function
      • + +
    + +     		+ +
    chr19:38475335rs137933390A/A + A + + +
      + +
    • c.4178A>G - Normal function
      • + +
    + +     		+ +
    chr19:38477816rs145573319A/A + A + + +
      + +
    • c.4400A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38483293rs146429605A/A + A + + +
      + +
    • c.4711A>G - Normal function
      • + +
    + +     		+ +
    chr19:38483329rs754476250C/C + C + + +
      + +
    • c.4747C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38483345rs151029675C/C + C + + +
      + +
    • c.4763C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38483357rs193922777C/C + C + + +
      + +
    • c.4775C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38485679T/T + T + + +
      + +
    • c.5024T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38485688rs781104539A/A + A + + +
      + +
    • c.5033A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485691rs146504767G/G + G + + +
      + +
    • c.5036G>A - Normal function
      • + +
    + +     		+ +
    chr19:38485787rs754785770A/A + A + + +
      + +
    • c.5132A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485838rs193922781C/C + C + + +
      + +
    • c.5183C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38485841rs193922782T/T + T + + +
      + +
    • c.5186T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38485972rs192863857C/C + C + + +
      + +
    • c.5317C>T - Normal function
      • + +
    + +     		+ +
    chr19:38485996rs372958050T/T + T + + +
      + +
    • c.5341T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38486015rs34934920C/C + C + + +
      + +
    • c.5360C>T - Normal function
      • + +
    + +     		+ +
    chr19:38486095A/A + A + + +
      + +
    • c.5440A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38486096rs193922783T/T + T + + +
      + +
    • c.5441T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38490151rs145801146C/C + C + + +
      + +
    • c.5890C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38490642A/A + A + + +
      + +
    • c.6037A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38492540rs35364374G/G + G + + +
      + +
    • c.6178G>T - Normal function
      • + +
    + +     		+ +
    chr19:38494379rs746818096T/T + T + + +
      + +
    • c.6302T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494381rs770593660G/G + G + + +
      + +
    • c.6304G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38494426rs193922788G/G + G + + +
      + +
    • c.6349G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494454G/G + G + + +
      + +
    • c.6377G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494464rs117886618C/C + C + + +
      + +
    • c.6387C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494465rs193922789G/G + G + + +
      + +
    • c.6388G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494555rs143398211G/G + G + + +
      + +
    • c.6478G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38494564rs118192175C/C + C + + +
      + +
    • c.6487C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494565rs118192163G/G + G + + +
      + +
    • c.6488G>A - Malignant Hyperthermia associated
      • + +
    • c.6488G>C - Malignant Hyperthermia associated
      • + +
    • c.6488G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494579rs118192176G/G + G + + +
      + +
    • c.6502G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38494621rs193922790A/A + A + + +
      + +
    • c.6544A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38494625rs959170123G/G + G + + +
      + +
    • c.6548G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496265rs193922791C/C + C + + +
      + +
    • c.6599C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496278rs141646642C/C + C + + +
      + +
    • c.6612C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496283rs118192177C/C + C + + +
      + +
    • c.6617C>G - Malignant Hyperthermia associated
      • + +
    • c.6617C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496294rs193922792G/G + G + + +
      + +
    • c.6628G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496301rs193922793T/T + T + + +
      + +
    • c.6635T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496306rs193922795G/G + G + + +
      + +
    • c.6640G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496415rs199870223C/C + C + + +
      + +
    • c.6670C>T - Normal function
      • + +
    + +     		+ +
    chr19:38496416rs537994744G/G + G + + +
      + +
    • c.6671G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496455G/G + G + + +
      + +
    • c.6710G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496487rs763352221C/C + C + + +
      + +
    • c.6742C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496488rs140152019G/G + G + + +
      + +
    • c.6743G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38496502rs917523269C/C + C + + +
      + +
    • c.6757C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38496901rs193922797G/G + G + + +
      + +
    • c.6838G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38496910rs118192121A/A + A + + +
      + +
    • c.6847A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499177rs34390345A/A + A + + +
      + +
    • c.6961A>G - Normal function
      • + +
    + +     		+ +
    chr19:38499223rs112563513G/G + G + + +
      + +
    • c.7007G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499234T/T + T + + +
      + +
    • c.7018T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499241rs147213895A/A + A + + +
      + +
    • c.7025A>G - Normal function
      • + +
    + +     		+ +
    chr19:38499639rs193922798G/G + G + + +
      + +
    • c.7032G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38499642C/C + C + + +
      + +
    • c.7035C>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499643rs193922799G/G + G + + +
      + +
    • c.7036G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499644rs121918596TGGA/TGGA + TGGA + + +
      + +
    • c.7042_7044delGAG - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499650rs193922801A/A + A + + +
      + +
    • c.7043A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499655rs193922802G/G + G + + +
      + +
    • c.7048G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499667G/G + G + + +
      + +
    • c.7060G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499670rs193922803C/C + C + + +
      + +
    • c.7063C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499680T/T + T + + +
      + +
    • c.7073T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499682rs769482889C/C + C + + +
      + +
    • c.7075C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38499683G/G + G + + +
      + +
    • c.7076G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499691rs762401851G/G + G + + +
      + +
    • c.7084G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499692rs193922804A/A + A + + +
      + +
    • c.7085A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499696C/C + C + + +
      + +
    • c.7089C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499697rs193922805T/T + T + + +
      + +
    • c.7090T>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499704rs193922806C/C + C + + +
      + +
    • c.7097C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499706rs146306934G/G + G + + +
      + +
    • c.7099G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499719A/A + A + + +
      + +
    • c.7112A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499730G/G + G + + +
      + +
    • c.7123G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499731rs193922807G/G + G + + +
      + +
    • c.7124G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499806rs976108591A/A + A + + +
      + +
    • c.7199A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38499817rs111364296G/G + G + + +
      + +
    • c.7210G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38499975rs193922809G/G + G + + +
      + +
    • c.7282G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499984rs193922810G/G + G + + +
      + +
    • c.7291G>A - Malignant Hyperthermia associated
      • + +
    • c.7291G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499985A/A + A + + +
      + +
    • c.7292A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38499993rs121918593G/G + G + + +
      + +
    • c.7300G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38499997rs28933396G/G + G + + +
      + +
    • c.7304G>A - Malignant Hyperthermia associated
      • + +
    • c.7304G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500000G/G + G + + +
      + +
    • c.7307G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38500003rs193922812C/C + C + + +
      + +
    • c.7310C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500010rs193922813G/G + G + + +
      + +
    • c.7317G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38500636rs118192124C/C + C + + +
      + +
    • c.7354C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500637rs193922815G/G + G + + +
      + +
    • c.7355G>A - Uncertain function
      • + +
    • c.7355G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38500640rs118192123T/T + T + + +
      + +
    • c.7358T>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500642rs193922816C/C + C + + +
      + +
    • c.7360C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500643rs118192122G/G + G + + +
      + +
    • c.7361G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500654rs28933397C/C + C + + +
      + +
    • c.7372C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500655rs121918594G/G + G + + +
      + +
    • c.7373G>A - Malignant Hyperthermia associated
      • + +
    • c.7373G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500667rs551223467C/C + C + + +
      + +
    • c.7385C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38500863rs193922817C/C + C + + +
      + +
    • c.7487C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38500898rs118192178C/C + C + + +
      + +
    • c.7522C>G - Uncertain function
      • + +
    • c.7522C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500899rs193922818G/G + G + + +
      + +
    • c.7523G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38500904rs193922819T/T + T + + +
      + +
    • c.7528T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38502652rs767553612A/A + A + + +
      + +
    • c.7760A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38502663rs193922822C/C + C + + +
      + +
    • c.7771C>G - Uncertain function
      • + +
    • c.7771C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38502669C/C + C + + +
      + +
    • c.7777C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38502670rs751180702G/G + G + + +
      + +
    • c.7778G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38502679rs193922824C/C + C + + +
      + +
    • c.7787C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38502708rs748575133T/T + T + + +
      + +
    • c.7816T>A - Normal function
      • + +
    + +     		+ +
    chr19:38502923rs914804033G/G + G + + +
      + +
    • c.7879G>A - Uncertain function
      • + +
    • c.7879G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38504298G/G + G + + +
      + +
    • c.8005G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38504319rs193922826C/C + C + + +
      + +
    • c.8026C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38504347rs781126470C/C + C + + +
      + +
    • c.8054C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38504868rs193922827G/G + G + + +
      + +
    • c.8188G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38504869rs112196644A/A + A + + +
      + +
    • c.8189A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38504878rs193922828G/G + G + + +
      + +
    • c.8198G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38505061rs193922829G/G + G + + +
      + +
    • c.8290G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38505325rs147707463C/C + C + + +
      + +
    • c.8327C>T - Normal function
      • + +
    + +     		+ +
    chr19:38505358rs35180584C/C + C + + +
      + +
    • c.8360C>G - Normal function
      • + +
    + +     		+ +
    chr19:38505923rs193922830C/C + C + + +
      + +
    • c.8518C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38505932rs768535909T/T + T + + +
      + +
    • c.8527T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38506361rs193922831T/T + T + + +
      + +
    • c.8600T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38506492rs112772310G/G + G + + +
      + +
    • c.8638G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38506508C/C + C + + +
      + +
    • c.8654C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38506865C/C + C + + +
      + +
    • c.8729C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38507821C/C + C + + +
      + +
    • c.8926C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38511590rs147303895G/G + G + + +
      + +
    • c.9152G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38512279G/G + G + + +
      + +
    • c.9268G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38512321rs193922832G/G + G + + +
      + +
    • c.9310G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38512367rs193922833G/G + G + + +
      + +
    • c.9356G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38515052C/C + C + + +
      + +
    • c.9499C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38516167rs199738299A/A + A + + +
      + +
    • c.9635A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38516181T/T + T + + +
      + +
    • c.9649T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38516184rs553055844G/G + G + + +
      + +
    • c.9652G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38516208G/G + G + + +
      + +
    • c.9676G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517431rs375626634T/T + T + + +
      + +
    • c.9758T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517470T/T + T + + +
      + +
    • c.9797T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38517521rs757753317G/G + G + + +
      + +
    • c.9848G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38517523T/T + T + + +
      + +
    • c.9850T>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38517541rs112151058G/G + G + + +
      + +
    • c.9868G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519237rs118204421C/C + C + + +
      + +
    • c.10042C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38519238rs193922834G/G + G + + +
      + +
    • c.10043G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519292rs137932199G/G + G + + +
      + +
    • c.10097G>A - Normal function
      • + +
    + +     		+ +
    chr19:38519295rs118192126A/A + A + + +
      + +
    • c.10100A>G - Normal function
      • + +
    + +     		+ +
    chr19:38519424C/C + C + + +
      + +
    • c.10229C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38519432A/A + A + + +
      + +
    • c.10237A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38519447A/A + A + + +
      + +
    • c.10252A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38525432C/C + C + + +
      + +
    • c.10556C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38525492rs143987857G/G + G + + +
      + +
    • c.10616G>A - Normal function
      • + +
    + +     		+ +
    chr19:38527707rs55876273G/G + G + + +
      + +
    • c.10747G>C - Normal function
      • + +
    + +     		+ +
    chr19:38527710G/G + G + + +
      + +
    • c.10750G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38528372G/G + G + + +
      + +
    • c.10891G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529002G/G + G + + +
      + +
    • c.11086G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38529036rs193922838G/G + G + + +
      + +
    • c.11120G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529042C/C + C + + +
      + +
    • c.11126C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38529048rs375915752C/C + C + + +
      + +
    • c.11132C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38534726rs4802584C/C + C + + +
      + +
    • c.11266C>G - Normal function
      • + +
    + +     		+ +
    chr19:38534774rs763112609C/C + C + + +
      + +
    • c.11314C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38534775rs193922839G/G + G + + +
      + +
    • c.11315G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38535197rs111565359G/G + G + + +
      + +
    • c.11416G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38535998rs140616359G/G + G + + +
      + +
    • c.11518G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38543365rs148399313G/G + G + + +
      + +
    • c.11708G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38543380A/A + A + + +
      + +
    • c.11723A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38543405rs193922840T/T + T + + +
      + +
    • c.11748T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38543551rs147136339A/A + A + + +
      + +
    • c.11798A>G - Normal function
      • + +
    + +     		+ +
    chr19:38543566G/G + G + + +
      + +
    • c.11813G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38543810C/C + C + + +
      + +
    • c.11947C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38543816rs118204422T/T + T + + +
      + +
    • c.11953T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38543821rs193922842C/C + C + + +
      + +
    • c.11958C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38543832rs193922843G/G + G + + +
      + +
    • c.11969G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38546460rs755088027G/G + G + + +
      + +
    • c.12028G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38546496rs773040531A/A + A + + +
      + +
    • c.12064A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38548253A/A + A + + +
      + +
    • c.12115A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38548259rs144685735C/C + C + + +
      + +
    • c.12121C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38548287rs193922844C/C + C + + +
      + +
    • c.12149C>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38548380rs373406011C/C + C + + +
      + +
    • c.12242C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561140G/G + G + + +
      + +
    • c.12310G>C - Normal function
      • + +
    + +     		+ +
    chr19:38561185rs193922848A/A + A + + +
      + +
    • c.12355A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561213C/C + C + + +
      + +
    • c.12383C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561228rs201321695A/A + A + + +
      + +
    • c.12398A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38561236rs193922849C/C + C + + +
      + +
    • c.12406C>A - Normal function
      • + +
    + +     		+ +
    chr19:38561243rs193922850T/T + T + + +
      + +
    • c.12413T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38561362G/G + G + + +
      + +
    • c.12532G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38561363G/G + G + + +
      + +
    • c.12533G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38561383rs151119428G/G + G + + +
      + +
    • c.12553G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38565023T/T + T + + +
      + +
    • c.12689T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38565034rs193922852G/G + G + + +
      + +
    • c.12700G>C - Malignant Hyperthermia associated
      • + +
    • c.12700G>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38565182rs193922853A/A + A + + +
      + +
    • c.12848A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38565215rs587784372C/C + C + + +
      + +
    • c.12881C>T - Normal function
      • + +
    + +     		+ +
    chr19:38565218rs193922855C/C + C + + +
      + +
    • c.12884C>T - Normal function
      • + +
    + +     		+ +
    chr19:38566978rs139647387A/A + A + + +
      + +
    • c.13505A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38566986rs150396398G/G + G + + +
      + +
    • c.13513G>C - Normal function
      • + +
    + +     		+ +
    chr19:38570619rs771741606C/C + C + + +
      + +
    • c.13672C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38570620rs118192130G/G + G + + +
      + +
    • c.13673G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38570649C/C + C + + +
      + +
    • c.13702C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38572032rs143520367C/C + C + + +
      + +
    • c.13760C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38572185rs118192135G/G + G + + +
      + +
    • c.13913G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38572190rs756850145A/A + A + + +
      + +
    • c.13918A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38572206rs193922860G/G + G + + +
      + +
    • c.13934G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38572262rs759500310T/T + T + + +
      + +
    • c.13990T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38572266rs193922862TC/TC + TC + + +
      + +
    • c.13994_13995delTCinsCT - Uncertain function
      • + +
    + +     		+ +
    chr19:38573180rs193922863C/C + C + + +
      + +
    • c.14002C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38573229rs193922864T/T + T + + +
      + +
    • c.14051T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38573304rs118192140C/C + C + + +
      + +
    • c.14126C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38575957rs200766617G/G + G + + +
      + +
    • c.14168G>A - Normal function
      • + +
    + +     		+ +
    chr19:38577931A/A + A + + +
      + +
    • c.14186A>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38577942rs193922865T/T + T + + +
      + +
    • c.14197T>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38577946rs193922866G/G + G + + +
      + +
    • c.14201G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38577954rs193922867C/C + C + + +
      + +
    • c.14209C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38577955rs193922868G/G + G + + +
      + +
    • c.14210G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38578015rs768360593G/G + G + + +
      + +
    • c.14270G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38578205G/G + G + + +
      + +
    • c.14364+1G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580004rs118192167A/A + A + + +
      + +
    • c.14387A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580039TT/TT + TT + + +
      + +
    • c.14422_14423delinsAA - Uncertain function
      • + +
    + +     		+ +
    chr19:38580041C/C + C + + +
      + +
    • c.14424C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580066rs143988412A/A + A + + +
      + +
    • c.14449A>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580075rs193922873G/G + G + + +
      + +
    • c.14458G>A - Uncertain function
      • + +
    • c.14458G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580088rs193922874T/T + T + + +
      + +
    • c.14471T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38580094rs121918595C/C + C + + +
      + +
    • c.14477C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580114rs193922876C/C + C + + +
      + +
    • c.14497C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580126C/C + C + + +
      + +
    • c.14509C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580370rs193922878C/C + C + + +
      + +
    • c.14512C>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580382rs193922879G/G + G + + +
      + +
    • c.14524G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580397G/G + G + + +
      + +
    • c.14539G>C - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580403rs118192168G/G + G + + +
      + +
    • c.14545G>A - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580416C/C + C + + +
      + +
    • c.14558C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580425rs193922880C/C + C + + +
      + +
    • c.14567C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38580439rs118192181C/C + C + + +
      + +
    • c.14581C>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38580440rs63749869G/G + G + + +
      + +
    • c.14582G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38580485rs113210953A/A + A + + +
      + +
    • c.14627A>G - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38580497rs193922883T/T + T + + +
      + +
    • c.14639T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38584974rs118192151G/G + G + + +
      + +
    • c.14678G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38584976rs193922888G/G + G + + +
      + +
    • c.14680G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38584989rs118192170T/T + T + + +
      + +
    • c.14693T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38585078A/A + A + + +
      + +
    • c.14782A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38585099 G/G
    chr19:38584989rs118192170chr19:38585947rs111657878T/T + T + + +
      + +
    • c.14813T>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38585948rs118192159C/C + C + + +
      + +
    • c.14814C>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38585951rs193922895C/C + C + + +
      + +
    • c.14817C>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38585952rs118192158G/G + G + + +
      + +
    • c.14818G>A - Uncertain function
      • + +
    + +     		+ +
    chr19:38585959rs193922896G/G + G + + +
      + +
    • c.14825G>T - Uncertain function
      • + +
    + +     		+ +
    chr19:38586101rs193922898 T/T + +
    chr19:38586140rs146876145C/C + C + + +
      + +
    • c.14918C>T - Malignant Hyperthermia associated
      • + +
    + +     		+ +
    chr19:38586190A/A + A + + +
      + +
    • c.14968A>G - Uncertain function
      • + +
    + +     		+ +
    chr19:38587362G/G + G + + +
      + +
    • c.15059G>C - Uncertain function
      • + +
    + +     		+ +
    chr19:38587363G/G + G + + +
      + +
    • c.15060G>C - Uncertain function
    diff --git a/docs/examples/pharmcat.example2.report.json b/docs/examples/pharmcat.example2.report.json index 0efa496b6..6a8e08ebf 100644 --- a/docs/examples/pharmcat.example2.report.json +++ b/docs/examples/pharmcat.example2.report.json @@ -1,15 +1,15 @@ { "title": "pharmcat.example2", - "timestamp": "2023-10-27T17:40:37.727Z", - "pharmcatVersion": "v2.8.3-5-gb037a140", - "cpicVersion": "v1.32.0", - "dpwgVersion": "2023-10-05-00-25", + "timestamp": "2023-12-19T20:39:39.067Z", + "pharmcatVersion": "v2.8.3-13-g5cb67175", + "cpicVersion": "v1.35.0-2-gf40f6f6", + "dpwgVersion": "2023-12-19-10-38", "genes": { "CPIC": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "ABCG2", "chr": "chr4", @@ -117,9 +117,9 @@ "treatUndocumentedVariationsAsReference": false }, "CACNA1S": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CACNA1S", "chr": "chr1", @@ -273,9 +273,9 @@ "treatUndocumentedVariationsAsReference": false }, "CFTR": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CFTR", "chr": "chr7", @@ -915,9 +915,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -1740,9 +1740,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -2432,9 +2432,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -3720,7 +3720,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP2D6", "chr": null, @@ -3881,9 +3881,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -4070,7 +4070,7 @@ "treatUndocumentedVariationsAsReference": false }, "CYP4F2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -4350,9 +4350,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "DPYD", "chr": "chr1", @@ -5683,9 +5683,9 @@ "treatUndocumentedVariationsAsReference": false }, "G6PD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "G6PD", "chr": "chrX", @@ -8494,9 +8494,9 @@ "treatUndocumentedVariationsAsReference": false }, "IFNL3": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "IFNL3", "chr": "chr19", @@ -8630,7 +8630,7 @@ "MT-RNR1": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "MT-RNR1", "chr": null, @@ -8735,9 +8735,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "NUDT15", "chr": "chr13", @@ -9088,9 +9088,9 @@ "treatUndocumentedVariationsAsReference": false }, "RYR1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "RYR1", "chr": "chr19", @@ -9099,6 +9099,29 @@ "callSource": "MATCHER", "uncalledHaplotypes": [], "messages": [ + { + "rule_name": "Malignant Hyperthermia Susceptibility warning", + "version": "2", + "matches": { + "gene": "RYR1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "desflurane", + "enflurane", + "halothane", + "isoflurane", + "methoxyflurane", + "sevoflurane", + "succinylcholine" + ] + }, + "exception_type": "note", + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " + }, { "rule_name": "reference-allele", "version": null, @@ -9210,6 +9233,48 @@ } ], "variants": [ + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38433867, + "dbSnpId": "rs193922744", + "call": "T/T", + "alleles": [ + "c.38T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440747, + "dbSnpId": "rs193922745", + "call": "CGAT/CGAT", + "alleles": [ + "c.51_53del" + ], + "phased": false, + "wildtypeAllele": "CGAT", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440796, + "dbSnpId": "rs193922746", + "call": "A/A", + "alleles": [ + "c.97A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9224,6 +9289,20 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440818, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.119G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9238,6 +9317,161 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440830, + "dbSnpId": "rs139161723", + "call": "G/G", + "alleles": [ + "c.131G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38440851, + "dbSnpId": "rs193922749", + "call": "C/C", + "alleles": [ + "c.152C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442361, + "dbSnpId": "rs118192160", + "call": "G/G", + "alleles": [ + "c.178G>A", + "c.178G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442373, + "dbSnpId": "rs995399438", + "call": "T/T", + "alleles": [ + "c.190T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442395, + "dbSnpId": "rs118192113", + "call": "C/C", + "alleles": [ + "c.212C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38442434, + "dbSnpId": "rs186983396", + "call": "C/C", + "alleles": [ + "c.251C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38443790, + "dbSnpId": "rs142474192", + "call": "G/G", + "alleles": [ + "c.418G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444179, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.455C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444187, + "dbSnpId": "rs193922750", + "call": "C/C", + "alleles": [ + "c.463C>A" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444191, + "dbSnpId": "rs193922751", + "call": "G/G", + "alleles": [ + "c.467G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444203, + "dbSnpId": "rs193922752", + "call": "A/A", + "alleles": [ + "c.479A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9259,6 +9493,7 @@ "dbSnpId": "rs193922753", "call": "G/G", "alleles": [ + "c.488G>A", "c.488G>T" ], "phased": false, @@ -9269,12 +9504,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38446710, - "dbSnpId": "rs1801086", + "position": 38444217, + "dbSnpId": "rs193922754", "call": "G/G", "alleles": [ - "c.742G>A", - "c.742G>C" + "c.493G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9284,26 +9518,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38448673, - "dbSnpId": "rs193922762", - "call": "C/C", + "position": 38444220, + "dbSnpId": "rs193922755", + "call": "G/G", "alleles": [ - "c.982C>T" + "c.496G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38448712, - "dbSnpId": "rs121918592", + "position": 38444221, + "dbSnpId": "rs193922756", + "call": "A/A", + "alleles": [ + "c.497A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38444250, + "dbSnpId": "rs761616815", "call": "G/G", "alleles": [ - "c.1021G>A", - "c.1021G>C" + "c.526G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9313,25 +9560,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38451842, - "dbSnpId": "rs193922764", - "call": "C/C", + "position": 38444252, + "dbSnpId": null, + "call": "G/G", "alleles": [ - "c.1201C>T" + "c.528G>T" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38451850, - "dbSnpId": "rs118192116", + "position": 38444253, + "dbSnpId": "rs193922757", "call": "C/C", "alleles": [ - "c.1209C>G" + "c.529C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9341,11 +9588,12 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455359, - "dbSnpId": "rs118192162", + "position": 38444257, + "dbSnpId": null, "call": "A/A", "alleles": [ - "c.1565A>C" + "c.533A>C", + "c.533A>G" ], "phased": false, "wildtypeAllele": "A", @@ -9355,11 +9603,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455463, - "dbSnpId": "rs111888148", + "position": 38444671, + "dbSnpId": "rs771058055", "call": "G/G", "alleles": [ - "c.1589G>A" + "c.625G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9369,11 +9617,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455471, - "dbSnpId": "rs193922768", + "position": 38446481, + "dbSnpId": "rs727504129", "call": "C/C", "alleles": [ - "c.1597C>T" + "c.641C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9383,11 +9631,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455472, - "dbSnpId": "rs144336148", + "position": 38446492, + "dbSnpId": "rs193922759", "call": "G/G", "alleles": [ - "c.1598G>A" + "c.652G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9397,25 +9645,54 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38455528, - "dbSnpId": "rs193922770", - "call": "C/C", + "position": 38446517, + "dbSnpId": "rs112596687", + "call": "T/T", "alleles": [ - "c.1654C>T" + "c.677T>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38457545, - "dbSnpId": "rs118192172", + "position": 38446520, + "dbSnpId": "rs193922760", + "call": "A/A", + "alleles": [ + "c.680A>T" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38446710, + "dbSnpId": "rs1801086", + "call": "G/G", + "alleles": [ + "c.742G>A", + "c.742G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38448500, + "dbSnpId": "rs752652072", "call": "C/C", "alleles": [ - "c.1840C>T" + "c.946C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9425,11 +9702,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38457546, - "dbSnpId": "rs193922772", + "position": 38448501, + "dbSnpId": "rs193922761", "call": "G/G", "alleles": [ - "c.1841G>T" + "c.947G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9439,11 +9716,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494564, - "dbSnpId": "rs118192175", + "position": 38448673, + "dbSnpId": "rs193922762", "call": "C/C", "alleles": [ - "c.6487C>T" + "c.982C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9453,11 +9730,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494565, - "dbSnpId": "rs118192163", + "position": 38448680, + "dbSnpId": null, + "call": "T/T", + "alleles": [ + "c.992_994dup" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38448712, + "dbSnpId": "rs121918592", "call": "G/G", "alleles": [ - "c.6488G>A" + "c.1021G>A", + "c.1021G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9467,11 +9759,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38494579, - "dbSnpId": "rs118192176", + "position": 38448715, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.6502G>A" + "c.1024G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9481,12 +9773,26 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38496283, - "dbSnpId": "rs118192177", + "position": 38448791, + "dbSnpId": "rs113332073", + "call": "G/G", + "alleles": [ + "c.1100G>A", + "c.1100G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38451785, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.6617C>G", - "c.6617C>T" + "c.1144C>A" ], "phased": false, "wildtypeAllele": "C", @@ -9496,11 +9802,28 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499223, - "dbSnpId": "rs112563513", + "position": 38451842, + "dbSnpId": "rs193922764", + "call": "C/C", + "alleles": [ + "c.1201C>A", + "c.1201C>G", + "c.1201C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38451843, + "dbSnpId": "rs193922766", "call": "G/G", "alleles": [ - "c.7007G>A" + "c.1202G>A", + "c.1202G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9510,25 +9833,39 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499644, - "dbSnpId": "rs121918596", - "call": "TGGA/TGGA", + "position": 38451850, + "dbSnpId": "rs118192116", + "call": "C/C", "alleles": [ - "c.7042_7044delGAG" + "c.1209C>G" ], "phased": false, - "wildtypeAllele": "TGGA", + "wildtypeAllele": "C", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499655, - "dbSnpId": "rs193922802", + "position": 38452985, + "dbSnpId": null, + "call": "C/C", + "alleles": [ + "c.1411C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38452996, + "dbSnpId": "rs193922767", "call": "G/G", "alleles": [ - "c.7048G>A" + "c.1422G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9538,11 +9875,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499670, - "dbSnpId": "rs193922803", + "position": 38455247, + "dbSnpId": "rs147723844", + "call": "A/A", + "alleles": [ + "c.1453A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455253, + "dbSnpId": null, "call": "C/C", "alleles": [ - "c.7063C>T" + "c.1459C>G" ], "phased": false, "wildtypeAllele": "C", @@ -9552,25 +9903,25 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499731, - "dbSnpId": "rs193922807", - "call": "G/G", + "position": 38455254, + "dbSnpId": null, + "call": "T/T", "alleles": [ - "c.7124G>C" + "c.1460T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499975, - "dbSnpId": "rs193922809", + "position": 38455269, + "dbSnpId": "rs901087791", "call": "G/G", "alleles": [ - "c.7282G>A" + "c.1475G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9580,25 +9931,40 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38499993, - "dbSnpId": "rs121918593", - "call": "G/G", + "position": 38455347, + "dbSnpId": null, + "call": "T/T", "alleles": [ - "c.7300G>A" + "c.1553T>C" ], "phased": false, - "wildtypeAllele": "G", + "wildtypeAllele": "T", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38499997, - "dbSnpId": "rs28933396", + "position": 38455359, + "dbSnpId": "rs118192162", + "call": "A/A", + "alleles": [ + "c.1565A>C", + "c.1565A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455463, + "dbSnpId": "rs111888148", "call": "G/G", "alleles": [ - "c.7304G>A" + "c.1589G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9608,11 +9974,12 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500636, - "dbSnpId": "rs118192124", + "position": 38455471, + "dbSnpId": "rs193922768", "call": "C/C", "alleles": [ - "c.7354C>T" + "c.1597C>A", + "c.1597C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9622,25 +9989,40 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500642, - "dbSnpId": "rs193922816", - "call": "C/C", + "position": 38455472, + "dbSnpId": "rs144336148", + "call": "G/G", "alleles": [ - "c.7360C>T" + "c.1598G>A" ], "phased": false, - "wildtypeAllele": "C", + "wildtypeAllele": "G", "hasUndocumentedVariations": false, "warnings": [] }, { "gene": "RYR1", "chromosome": "chr19", - "position": 38500643, - "dbSnpId": "rs118192122", + "position": 38455489, + "dbSnpId": "rs193922769", + "call": "T/T", + "alleles": [ + "c.1615T>C", + "c.1615T>G" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38455504, + "dbSnpId": null, "call": "G/G", "alleles": [ - "c.7361G>A" + "c.1630G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9650,11 +10032,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500654, - "dbSnpId": "rs28933397", + "position": 38455528, + "dbSnpId": "rs193922770", "call": "C/C", "alleles": [ - "c.7372C>T" + "c.1654C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9664,11 +10046,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500655, - "dbSnpId": "rs121918594", + "position": 38457539, + "dbSnpId": "rs118204423", "call": "G/G", "alleles": [ - "c.7373G>A" + "c.1834G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9678,12 +10060,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500898, - "dbSnpId": "rs118192178", + "position": 38457545, + "dbSnpId": "rs118192172", "call": "C/C", "alleles": [ - "c.7522C>G", - "c.7522C>T" + "c.1840C>T" ], "phased": false, "wildtypeAllele": "C", @@ -9693,11 +10074,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38500899, - "dbSnpId": "rs193922818", + "position": 38457546, + "dbSnpId": "rs193922772", "call": "G/G", "alleles": [ - "c.7523G>A" + "c.1841G>T" ], "phased": false, "wildtypeAllele": "G", @@ -9707,11 +10088,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38512321, - "dbSnpId": "rs193922832", + "position": 38458175, + "dbSnpId": "rs747177274", "call": "G/G", "alleles": [ - "c.9310G>A" + "c.2050G>C" ], "phased": false, "wildtypeAllele": "G", @@ -9721,11 +10102,11 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38543832, - "dbSnpId": "rs193922843", + "position": 38458247, + "dbSnpId": "rs138874610", "call": "G/G", "alleles": [ - "c.11969G>T" + "c.2122G>A" ], "phased": false, "wildtypeAllele": "G", @@ -9735,14 +10116,3135 @@ { "gene": "RYR1", "chromosome": "chr19", - "position": 38580004, - "dbSnpId": "rs118192167", - "call": "A/A", + "position": 38460461, + "dbSnpId": "rs376149732", + "call": "C/C", "alleles": [ - "c.14387A>G" + "c.2447C>T" ], "phased": false, - "wildtypeAllele": "A", + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38460551, + "dbSnpId": "rs193922775", + "call": "C/C", + "alleles": [ + "c.2537C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38463499, + "dbSnpId": "rs370634440", + "call": "G/G", + "alleles": [ + "c.2654G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38464649, + "dbSnpId": "rs148623597", + "call": "G/G", + "alleles": [ + "c.2797G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466144, + "dbSnpId": "rs778241277", + "call": "G/G", + "alleles": [ + "c.2924G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466216, + "dbSnpId": "rs180714609", + "call": "G/G", + "alleles": [ + "c.2996G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466315, + "dbSnpId": "rs141942845", + "call": "G/G", + "alleles": [ + "c.3095G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466347, + "dbSnpId": "rs111272095", + "call": "C/C", + "alleles": [ + "c.3127C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466386, + "dbSnpId": "rs2145447772", + "call": "G/G", + "alleles": [ + "c.3166G>A", + "c.3166G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38466392, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.3172G>A" + ], + "phased": false, + 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"hasUndocumentedVariations": false, + "warnings": [] + }, { "gene": "RYR1", "chromosome": "chr19", @@ -9816,6 +13402,62 @@ "hasUndocumentedVariations": false, "warnings": [] }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580485, + "dbSnpId": "rs113210953", + "call": "A/A", + "alleles": [ + "c.14627A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38580497, + "dbSnpId": "rs193922883", + "call": "T/T", + "alleles": [ + "c.14639T>C" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38584974, + "dbSnpId": "rs118192151", + "call": "G/G", + "alleles": [ + "c.14678G>A" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + 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"c.14825G>T" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586101, + "dbSnpId": "rs193922898", + "call": "T/T", + "alleles": [ + "c.14879T>A" + ], + "phased": false, + "wildtypeAllele": "T", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586140, + "dbSnpId": "rs146876145", + "call": "C/C", + "alleles": [ + "c.14918C>T" + ], + "phased": false, + "wildtypeAllele": "C", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38586190, + "dbSnpId": null, + "call": "A/A", + "alleles": [ + "c.14968A>G" + ], + "phased": false, + "wildtypeAllele": "A", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38587362, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.15059G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] + }, + { + "gene": "RYR1", + "chromosome": "chr19", + "position": 38587363, + "dbSnpId": null, + "call": "G/G", + "alleles": [ + "c.15060G>C" + ], + "phased": false, + "wildtypeAllele": "G", + "hasUndocumentedVariations": false, + "warnings": [] } ], "variantsOfInterest": [], @@ -9836,9 +13646,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -10465,9 +14275,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "TPMT", "chr": "chr6", @@ -11198,9 +15008,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "CPIC", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -11379,7 +15189,7 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", "phenotypeVersion": null, "phenotypeSource": "CPIC", @@ -11499,9 +15309,9 @@ }, "DPWG": { "ABCG2": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "ABCG2", "chr": "chr4", @@ -11609,9 +15419,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2B6": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2B6", "chr": "chr19", @@ -12430,9 +16240,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C19": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C19", "chr": "chr10", @@ -13106,9 +16916,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP2C9": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2C9", "chr": "chr10", @@ -14362,7 +18172,7 @@ "CYP2D6": { "alleleDefinitionVersion": null, "alleleDefinitionSource": "UNKNOWN", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP2D6", "chr": null, @@ -14535,9 +18345,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A4": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A4", "chr": "chr7", @@ -14668,7 +18478,7 @@ "gene": "CYP3A4", "chromosome": "chr7", "position": 99758228, - "dbSnpId": null, + "dbSnpId": "rs1584538410", "call": "T/T", "alleles": [ "*46" @@ -15248,9 +19058,9 @@ "treatUndocumentedVariationsAsReference": false }, "CYP3A5": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "CYP3A5", "chr": "chr7", @@ -15437,9 +19247,9 @@ "treatUndocumentedVariationsAsReference": false }, "DPYD": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "DPYD", "chr": "chr1", @@ -16778,9 +20588,9 @@ "treatUndocumentedVariationsAsReference": false }, "F5": { - "alleleDefinitionVersion": "2023-10-05-00-25", + "alleleDefinitionVersion": "2023-12-19-10-38", "alleleDefinitionSource": "PHARMGKB", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "F5", "chr": "chr1", @@ -17094,9 +20904,9 @@ "treatUndocumentedVariationsAsReference": false }, "NUDT15": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "NUDT15", "chr": "chr13", @@ -17447,9 +21257,9 @@ "treatUndocumentedVariationsAsReference": false }, "SLCO1B1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "SLCO1B1", "chr": "chr12", @@ -18056,9 +21866,9 @@ "treatUndocumentedVariationsAsReference": false }, "TPMT": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "TPMT", "chr": "chr6", @@ -18789,9 +22599,9 @@ "treatUndocumentedVariationsAsReference": false }, "UGT1A1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "UGT1A1", "chr": "chr2", @@ -18970,9 +22780,9 @@ "treatUndocumentedVariationsAsReference": false }, "VKORC1": { - "alleleDefinitionVersion": "v1.32.0", + "alleleDefinitionVersion": "v1.35.0-2-gf40f6f6", "alleleDefinitionSource": "CPIC", - "phenotypeVersion": "2023-10-05-00-25", + "phenotypeVersion": "2023-12-19-10-38", "phenotypeSource": "DPWG", "geneSymbol": "VKORC1", "chr": "chr16", @@ -19111,7 +22921,7 @@ "name": "abacavir", "id": "PA448004", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19158,7 +22968,7 @@ "id": "PA166104997", "name": "Annotation of CPIC Guideline for abacavir and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104997", "annotations": [] } @@ -19168,7 +22978,7 @@ "name": "allopurinol", "id": "PA448320", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19218,7 +23028,7 @@ "id": "PA166105003", "name": "Annotation of CPIC Guideline for allopurinol and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105003", "annotations": [] } @@ -19228,7 +23038,7 @@ "name": "amikacin", "id": "PA164744372", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19261,7 +23071,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -19271,7 +23081,7 @@ "name": "amitriptyline", "id": "PA448385", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19325,7 +23135,7 @@ "id": "PA166105006", "name": "Annotation of CPIC Guideline for amitriptyline and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105006", "annotations": [ { @@ -19423,7 +23233,7 @@ "name": "atazanavir", "id": "PA10251", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19460,7 +23270,7 @@ "id": "PA166128738", "name": "Annotation of CPIC Guideline for atazanavir and UGT1A1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166128738", "annotations": [ { @@ -19524,7 +23334,7 @@ "name": "atomoxetine", "id": "PA134688071", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19557,7 +23367,7 @@ "id": "PA166181885", "name": "Annotation of CPIC Guideline for atomoxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166181885", "annotations": [] } @@ -19567,7 +23377,7 @@ "name": "atorvastatin", "id": "PA448500", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -19633,7 +23443,7 @@ "id": "PA166262221", "name": "Annotation of CPIC Guideline for atorvastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262221", "annotations": [ { @@ -19697,7 +23507,7 @@ "name": "azathioprine", "id": "PA448515", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -19773,7 +23583,7 @@ "id": "PA166104933", "name": "Annotation of CPIC Guideline for azathioprine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104933", "annotations": [ { @@ -19871,7 +23681,7 @@ "name": "capecitabine", "id": "PA448771", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -19939,7 +23749,7 @@ "id": "PA166109594", "name": "Annotation of CPIC Guideline for capecitabine and DPYD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166109594", "annotations": [ { @@ -20003,7 +23813,7 @@ "name": "carbamazepine", "id": "PA448785", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20057,7 +23867,7 @@ "id": "PA166105008", "name": "Annotation of CPIC Guideline for carbamazepine and HLA-A, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105008", "annotations": [] } @@ -20067,7 +23877,7 @@ "name": "celecoxib", "id": "PA448871", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20097,7 +23907,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -20161,7 +23971,7 @@ "name": "citalopram", "id": "PA449015", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20225,7 +24035,7 @@ "id": "PA166127638", "name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638", "annotations": [ { @@ -20289,7 +24099,7 @@ "name": "clomipramine", "id": "PA449048", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20343,7 +24153,7 @@ "id": "PA166105007", "name": "Annotation of CPIC Guideline for clomipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105007", "annotations": [ { @@ -20441,7 +24251,7 @@ "name": "clopidogrel", "id": "PA449053", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20516,14 +24326,14 @@ "id": "PA166104948", "name": "Annotation of CPIC Guideline for clopidogrel and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104948", "annotations": [ { "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" ], - "drugRecommendation": "Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.\n

    Other Considerations

    \nFor cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication.", + "drugRecommendation": "Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.\n

    Other Considerations

    \nFor cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication.", "classification": "Strong", "activityScore": {}, "population": "CVI ACS PCI", @@ -20576,7 +24386,7 @@ "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" ], - "drugRecommendation": "Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.\n

    Other Considerations

    \nFor non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI.", + "drugRecommendation": "Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.\n

    Other Considerations

    \nFor non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI.", "classification": "Moderate", "activityScore": {}, "population": "CVI non-ACS non-PCI", @@ -20686,7 +24496,7 @@ "name": "codeine", "id": "PA449088", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -20767,7 +24577,7 @@ "id": "PA166104996", "name": "Annotation of CPIC Guideline for codeine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104996", "annotations": [] } @@ -20777,7 +24587,7 @@ "name": "dapsone", "id": "PA449211", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -20879,7 +24689,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -20943,13 +24753,13 @@ "name": "desflurane", "id": "PA164749136", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -20966,12 +24776,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -21001,15 +24810,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -21050,36 +24859,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -21130,7 +24910,7 @@ "name": "desipramine", "id": "PA449233", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21184,7 +24964,7 @@ "id": "PA166105002", "name": "Annotation of CPIC Guideline for desipramine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105002", "annotations": [] } @@ -21194,7 +24974,7 @@ "name": "dexlansoprazole", "id": "PA166110257", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21235,7 +25015,7 @@ "id": "PA166219301", "name": "Annotation of CPIC Guideline for dexlansoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219301", "annotations": [ { @@ -21299,7 +25079,7 @@ "name": "doxepin", "id": "PA449409", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21353,7 +25133,7 @@ "id": "PA166105000", "name": "Annotation of CPIC Guideline for doxepin and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105000", "annotations": [ { @@ -21451,7 +25231,7 @@ "name": "efavirenz", "id": "PA449441", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "CYP2B6 *1/*6 warning", @@ -21509,7 +25289,7 @@ "id": "PA166182603", "name": "Annotation of CPIC Guideline for efavirenz and CYP2B6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182603", "annotations": [ { @@ -21573,13 +25353,13 @@ "name": "enflurane", "id": "PA449461", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -21596,12 +25376,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -21631,15 +25410,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -21680,36 +25459,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -21760,7 +25510,7 @@ "name": "escitalopram", "id": "PA10074", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -21824,7 +25574,7 @@ "id": "PA166127638", "name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638", "annotations": [ { @@ -21888,7 +25638,7 @@ "name": "fluorouracil", "id": "PA128406956", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -21956,7 +25706,7 @@ "id": "PA166122686", "name": "Annotation of CPIC Guideline for fluorouracil and DPYD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122686", "annotations": [ { @@ -22020,7 +25770,7 @@ "name": "flurbiprofen", "id": "PA449683", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22050,7 +25800,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -22114,7 +25864,7 @@ "name": "fluvastatin", "id": "PA449688", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -22180,7 +25930,7 @@ "id": "PA166262341", "name": "Annotation of CPIC Guideline for fluvastatin and CYP2C9, SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262341", "annotations": [ { @@ -22278,7 +26028,7 @@ "name": "fluvoxamine", "id": "PA449690", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22342,7 +26092,7 @@ "id": "PA166127637", "name": "Annotation of CPIC Guideline for fluvoxamine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127637", "annotations": [] } @@ -22352,7 +26102,7 @@ "name": "fosphenytoin", "id": "PA164746820", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -22424,7 +26174,7 @@ "id": "PA166122806", "name": "Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122806", "annotations": [ { @@ -22605,7 +26355,7 @@ "name": "gentamicin", "id": "PA449753", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22638,7 +26388,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -22648,13 +26398,13 @@ "name": "halothane", "id": "PA449845", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -22671,12 +26421,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -22706,15 +26455,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -22755,36 +26504,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -22835,7 +26555,7 @@ "name": "hydrocodone", "id": "PA449900", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22877,7 +26597,7 @@ "id": "PA166228121", "name": "Annotation of CPIC Guideline for hydrocodone and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228121", "annotations": [] } @@ -22887,7 +26607,7 @@ "name": "ibuprofen", "id": "PA449957", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -22917,7 +26637,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -22981,7 +26701,7 @@ "name": "imipramine", "id": "PA449969", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23035,7 +26755,7 @@ "id": "PA166104999", "name": "Annotation of CPIC Guideline for imipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104999", "annotations": [ { @@ -23133,13 +26853,13 @@ "name": "isoflurane", "id": "PA450106", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -23156,12 +26876,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -23191,15 +26910,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -23240,36 +26959,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -23320,7 +27010,7 @@ "name": "ivacaftor", "id": "PA165950341", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23350,7 +27040,7 @@ "id": "PA166114461", "name": "Annotation of CPIC Guideline for ivacaftor and CFTR", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166114461", "annotations": [ { @@ -23414,7 +27104,7 @@ "name": "kanamycin", "id": "PA450137", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23447,7 +27137,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -23457,7 +27147,7 @@ "name": "lansoprazole", "id": "PA450180", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23498,7 +27188,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -23562,7 +27252,7 @@ "name": "lornoxicam", "id": "PA165958395", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23592,7 +27282,7 @@ "id": "PA166191841", "name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841", "annotations": [ { @@ -23656,7 +27346,7 @@ "name": "lovastatin", "id": "PA450272", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -23722,7 +27412,7 @@ "id": "PA166262241", "name": "Annotation of CPIC Guideline for lovastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262241", "annotations": [ { @@ -23786,7 +27476,7 @@ "name": "meloxicam", "id": "PA450353", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23816,7 +27506,7 @@ "id": "PA166192301", "name": "Annotation of CPIC Guideline for meloxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192301", "annotations": [ { @@ -23880,7 +27570,7 @@ "name": "mercaptopurine", "id": "PA450379", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -23956,7 +27646,7 @@ "id": "PA166104945", "name": "Annotation of CPIC Guideline for mercaptopurine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104945", "annotations": [ { @@ -24054,13 +27744,13 @@ "name": "methoxyflurane", "id": "PA450434", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -24077,12 +27767,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -24112,15 +27801,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -24161,36 +27850,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -24241,7 +27901,7 @@ "name": "methylene blue", "id": "PA450457", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -24343,7 +28003,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -24407,7 +28067,7 @@ "name": "nitrofurantoin", "id": "PA450640", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -24470,7 +28130,7 @@ "id": "PA166279721", "name": "Annotation of CPIC Guideline for nitrofurantoin and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166279721", "annotations": [ { @@ -24534,7 +28194,7 @@ "name": "nortriptyline", "id": "PA450657", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24588,7 +28248,7 @@ "id": "PA166104998", "name": "Annotation of CPIC Guideline for nortriptyline and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104998", "annotations": [] } @@ -24598,7 +28258,7 @@ "name": "omeprazole", "id": "PA450704", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24639,7 +28299,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -24703,7 +28363,7 @@ "name": "ondansetron", "id": "PA450705", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24735,7 +28395,7 @@ "id": "PA166161954", "name": "Annotation of CPIC Guideline for ondansetron and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161954", "annotations": [] } @@ -24745,7 +28405,7 @@ "name": "oxcarbazepine", "id": "PA450732", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24780,7 +28440,7 @@ "id": "PA166176623", "name": "Annotation of CPIC Guideline for oxcarbazepine and HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176623", "annotations": [] } @@ -24790,7 +28450,7 @@ "name": "pantoprazole", "id": "PA450774", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24831,7 +28491,7 @@ "id": "PA166219103", "name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103", "annotations": [ { @@ -24895,7 +28555,7 @@ "name": "paromomycin", "id": "PA164784023", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -24928,7 +28588,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -24938,7 +28598,7 @@ "name": "paroxetine", "id": "PA450801", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25002,7 +28662,7 @@ "id": "PA166127636", "name": "Annotation of CPIC Guideline for paroxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127636", "annotations": [] } @@ -25012,7 +28672,7 @@ "name": "peginterferon alfa-2a", "id": "PA164749390", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25042,7 +28702,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -25052,7 +28712,7 @@ "name": "peginterferon alfa-2b", "id": "PA164784024", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25082,7 +28742,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -25092,7 +28752,7 @@ "name": "pegloticase", "id": "PA165963961", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -25194,7 +28854,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -25258,7 +28918,7 @@ "name": "phenytoin", "id": "PA450947", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -25330,7 +28990,7 @@ "id": "PA166122806", "name": "Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122806", "annotations": [ { @@ -25511,7 +29171,7 @@ "name": "piroxicam", "id": "PA450985", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25541,7 +29201,7 @@ "id": "PA166192321", "name": "Annotation of CPIC Guideline for piroxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192321", "annotations": [ { @@ -25605,7 +29265,7 @@ "name": "pitavastatin", "id": "PA142650384", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -25671,7 +29331,7 @@ "id": "PA166262261", "name": "Annotation of CPIC Guideline for pitavastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262261", "annotations": [ { @@ -25735,7 +29395,7 @@ "name": "plazomicin", "id": "PA166228921", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -25768,7 +29428,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -25778,7 +29438,7 @@ "name": "pravastatin", "id": "PA451089", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -25844,7 +29504,7 @@ "id": "PA166262281", "name": "Annotation of CPIC Guideline for pravastatin and SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262281", "annotations": [ { @@ -25908,7 +29568,7 @@ "name": "primaquine", "id": "PA451103", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -25993,7 +29653,7 @@ "id": "PA166279621", "name": "Annotation of CPIC Guideline for primaquine and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166279621", "annotations": [ { @@ -26057,7 +29717,7 @@ "name": "rasburicase", "id": "PA10176", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -26159,7 +29819,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -26223,7 +29883,7 @@ "name": "ribavirin", "id": "PA451241", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26253,7 +29913,7 @@ "id": "PA166110235", "name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235", "annotations": [] } @@ -26263,7 +29923,7 @@ "name": "rosuvastatin", "id": "PA134308647", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -26329,7 +29989,7 @@ "id": "PA166262321", "name": "Annotation of CPIC Guideline for rosuvastatin and ABCG2, SLCO1B1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262321", "annotations": [ { @@ -26427,7 +30087,7 @@ "name": "sertraline", "id": "PA451333", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -26491,7 +30151,7 @@ "id": "PA166127639", "name": "Annotation of CPIC Guideline for sertraline and CYP2B6, CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127639", "annotations": [ { @@ -26589,13 +30249,13 @@ "name": "sevoflurane", "id": "PA451341", "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -26612,12 +30272,11 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " } ], "variants": [], "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" ], "citations": [ @@ -26647,15 +30306,15 @@ ], "guidelines": [ { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -26696,36 +30355,7 @@ "inferred": false, "combination": false, "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] - }, - { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ + }, { "allele1": { "gene": "RYR1", @@ -26769,362 +30399,299 @@ "otherPrescribingGuidance": true } ] - } - ] - }, - "simvastatin": { - "name": "simvastatin", - "id": "PA451363", - "source": "CPIC", - "version": "2023-10-05-00-25", - "messages": [ - { - "rule_name": "SLCO1B1-drug text", - "version": "1", - "matches": { - "gene": "SLCO1B1", - "hapsCalled": [], - "hapsMissing": [], - "variantsMissing": [], - "variant": null, - "dips": [], - "drugs": [ - "simvastatin", - "rosuvastatin", - "pravastatin", - "pitavastatin", - "lovastatin", - "fluvastatin", - "atorvastatin" - ] - }, - "exception_type": "note", - "message": "The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

    In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5." - } - ], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166105005" - ], - "citations": [ - { - "pmid": "22617227", - "title": "The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.", - "authors": [ - "Wilke R A", - "Ramsey L B", - "Johnson S G", - "Maxwell W D", - "McLeod H L", - "Voora D", - "Krauss R M", - "Roden D M", - "Feng Q", - "Cooper-Dehoff R M", - "Gong L", - "Klein T E", - "Wadelius M", - "Niemi M", - "Clinical Pharmacogenomics Implementation Consortium (CPIC)" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2012 - }, - { - "pmid": "24918167", - "title": "The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.", - "authors": [ - "Ramsey L B", - "Johnson S G", - "Caudle K E", - "Haidar C E", - "Voora D", - "Wilke R A", - "Maxwell W D", - "McLeod H L", - "Krauss R M", - "Roden D M", - "Feng Q", - "Cooper-DeHoff R M", - "Gong L", - "Klein T E", - "Wadelius M", - "Niemi M" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2014 - }, - { - "pmid": "35152405", - "title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.", - "authors": [ - "Cooper-DeHoff Rhonda M", - "Niemi Mikko", - "Ramsey Laura B", - "Luzum Jasmine A", - "Tarkiainen E Katriina", - "Straka Robert J", - "Gong Li", - "Tuteja Sony", - "Wilke Russell A", - "Wadelius Mia", - "Larson Eric A", - "Roden Dan M", - "Klein Teri E", - "Yee Sook Wah", - "Krauss Ronald M", - "Turner Richard M", - "Palaniappan Latha", - "Gaedigk Andrea", - "Giacomini Kathleen M", - "Caudle Kelly E", - "Voora Deepak" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2022 - } - ], - "guidelines": [ - { - "id": "PA166105005", - "name": "Annotation of CPIC Guideline for simvastatin and SLCO1B1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105005", - "annotations": [ - { - "implications": [ - "SLCO1B1: Typical myopathy risk and statin exposure" - ], - "drugRecommendation": "Prescribe desired starting dose and adjust doses based on disease-specific guidelines.\n

    Other Considerations

    \nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ - { - "allele1": { - "gene": "SLCO1B1", - "name": "*1", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "allele2": { - "gene": "SLCO1B1", - "name": "*1", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "gene": "SLCO1B1", - "phenotypes": [ - "Normal Function" - ], - "outsidePhenotype": false, - "outsidePhenotypeMismatch": null, - "activityScore": null, - "outsideActivityScore": false, - "outsideActivityScoreMismatch": null, - "variant": null, - "lookupKey": [ - "Normal Function" - ], - "label": "*1/*1", - "inferred": false, - "combination": false, - "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": false - } - ] - } - ] - }, - "streptomycin": { - "name": "streptomycin", - "id": "PA451512", - "source": "CPIC", - "version": "2023-10-05-00-25", - "messages": [], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166229081" - ], - "citations": [ - { - "pmid": "34032273", - "title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.", - "authors": [ - "McDermott John Henry", - "Wolf Joshua", - "Hoshitsuki Keito", - "Huddart Rachel", - "Caudle Kelly E", - "Whirl-Carrillo Michelle", - "Steyger Peter S", - "Smith Richard J H", - "Cody Neal", - "Rodriguez-Antona Cristina", - "Klein Teri E", - "Newman William G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2022 - } - ], - "guidelines": [ - { - "id": "PA166229081", - "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", - "annotations": [] - } - ] - }, - "succinylcholine": { - "name": "succinylcholine", - "id": "PA451522", - "source": "CPIC", - "version": "2023-10-05-00-25, 2023-10-05-00-25", - "messages": [ - { - "rule_name": "Malignant Hyperthermia Susceptibility warning", - "version": "2", - "matches": { - "gene": null, - "hapsCalled": [], - "hapsMissing": [], - "variantsMissing": [], - "variant": null, - "dips": [], - "drugs": [ - "desflurane", - "enflurane", - "halothane", - "isoflurane", - "methoxyflurane", - "sevoflurane", - "succinylcholine" - ] - }, - "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." - } - ], - "variants": [], - "urls": [ - "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", - "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" - ], - "citations": [ - { - "pmid": "30499100", - "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", - "authors": [ - "Gonsalves Stephen G", - "Dirksen Robert T", - "Sangkuhl Katrin", - "Pulk Rebecca", - "Alvarellos Maria", - "Vo Teresa", - "Hikino Keiko", - "Roden Dan", - "Klein Teri E", - "Poler S Mark", - "Patel Sephalie", - "Caudle Kelly E", - "Gordon Ronald", - "Brandom Barbara", - "Biesecker Leslie G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2019 - } - ], - "guidelines": [ - { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", - "source": "CPIC", - "version": "2023-10-05-00-25", - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", - "annotations": [ - { - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", - "classification": "Strong", - "activityScore": {}, - "population": "general", - "genotypes": [ - { - "diplotypes": [ - { - "allele1": { - "gene": "CACNA1S", - "name": "Reference", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "allele2": { - "gene": "CACNA1S", - "name": "Reference", - "function": "Normal function", - "reference": true, - "activityValue": "n/a" - }, - "gene": "CACNA1S", - "phenotypes": [ - "Uncertain Susceptibility" - ], - "outsidePhenotype": false, - "outsidePhenotypeMismatch": null, - "activityScore": null, - "outsideActivityScore": false, - "outsideActivityScoreMismatch": null, - "variant": null, - "lookupKey": [ - "Uncertain Susceptibility" - ], - "label": "Reference/Reference", - "inferred": false, - "combination": false, - "phenotypeDataSource": "CPIC" - } - ] - } - ], - "messages": [], - "highlightedVariants": [], - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ] + } + ] + }, + "simvastatin": { + "name": "simvastatin", + "id": "PA451363", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [ + { + "rule_name": "SLCO1B1-drug text", + "version": "1", + "matches": { + "gene": "SLCO1B1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "simvastatin", + "rosuvastatin", + "pravastatin", + "pitavastatin", + "lovastatin", + "fluvastatin", + "atorvastatin" + ] + }, + "exception_type": "note", + "message": "The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

    In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5." + } + ], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166105005" + ], + "citations": [ + { + "pmid": "22617227", + "title": "The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.", + "authors": [ + "Wilke R A", + "Ramsey L B", + "Johnson S G", + "Maxwell W D", + "McLeod H L", + "Voora D", + "Krauss R M", + "Roden D M", + "Feng Q", + "Cooper-Dehoff R M", + "Gong L", + "Klein T E", + "Wadelius M", + "Niemi M", + "Clinical Pharmacogenomics Implementation Consortium (CPIC)" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2012 + }, + { + "pmid": "24918167", + "title": "The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.", + "authors": [ + "Ramsey L B", + "Johnson S G", + "Caudle K E", + "Haidar C E", + "Voora D", + "Wilke R A", + "Maxwell W D", + "McLeod H L", + "Krauss R M", + "Roden D M", + "Feng Q", + "Cooper-DeHoff R M", + "Gong L", + "Klein T E", + "Wadelius M", + "Niemi M" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2014 }, + { + "pmid": "35152405", + "title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.", + "authors": [ + "Cooper-DeHoff Rhonda M", + "Niemi Mikko", + "Ramsey Laura B", + "Luzum Jasmine A", + "Tarkiainen E Katriina", + "Straka Robert J", + "Gong Li", + "Tuteja Sony", + "Wilke Russell A", + "Wadelius Mia", + "Larson Eric A", + "Roden Dan M", + "Klein Teri E", + "Yee Sook Wah", + "Krauss Ronald M", + "Turner Richard M", + "Palaniappan Latha", + "Gaedigk Andrea", + "Giacomini Kathleen M", + "Caudle Kelly E", + "Voora Deepak" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2022 + } + ], + "guidelines": [ + { + "id": "PA166105005", + "name": "Annotation of CPIC Guideline for simvastatin and SLCO1B1", + "source": "CPIC", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105005", + "annotations": [ + { + "implications": [ + "SLCO1B1: Typical myopathy risk and statin exposure" + ], + "drugRecommendation": "Prescribe desired starting dose and adjust doses based on disease-specific guidelines.\n

    Other Considerations

    \nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.", + "classification": "Strong", + "activityScore": {}, + "population": "general", + "genotypes": [ + { + "diplotypes": [ + { + "allele1": { + "gene": "SLCO1B1", + "name": "*1", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "allele2": { + "gene": "SLCO1B1", + "name": "*1", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "gene": "SLCO1B1", + "phenotypes": [ + "Normal Function" + ], + "outsidePhenotype": false, + "outsidePhenotypeMismatch": null, + "activityScore": null, + "outsideActivityScore": false, + "outsideActivityScoreMismatch": null, + "variant": null, + "lookupKey": [ + "Normal Function" + ], + "label": "*1/*1", + "inferred": false, + "combination": false, + "phenotypeDataSource": "CPIC" + } + ] + } + ], + "messages": [], + "highlightedVariants": [], + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": false + } + ] + } + ] + }, + "streptomycin": { + "name": "streptomycin", + "id": "PA451512", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166229081" + ], + "citations": [ + { + "pmid": "34032273", + "title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.", + "authors": [ + "McDermott John Henry", + "Wolf Joshua", + "Hoshitsuki Keito", + "Huddart Rachel", + "Caudle Kelly E", + "Whirl-Carrillo Michelle", + "Steyger Peter S", + "Smith Richard J H", + "Cody Neal", + "Rodriguez-Antona Cristina", + "Klein Teri E", + "Newman William G" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2022 + } + ], + "guidelines": [ + { + "id": "PA166229081", + "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", + "source": "CPIC", + "version": "2023-12-19-10-38", + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", + "annotations": [] + } + ] + }, + "succinylcholine": { + "name": "succinylcholine", + "id": "PA451522", + "source": "CPIC", + "version": "2023-12-19-10-38", + "messages": [ + { + "rule_name": "Malignant Hyperthermia Susceptibility warning", + "version": "2", + "matches": { + "gene": "RYR1", + "hapsCalled": [], + "hapsMissing": [], + "variantsMissing": [], + "variant": null, + "dips": [], + "drugs": [ + "desflurane", + "enflurane", + "halothane", + "isoflurane", + "methoxyflurane", + "sevoflurane", + "succinylcholine" + ] + }, + "exception_type": "note", + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " + } + ], + "variants": [], + "urls": [ + "https://www.pharmgkb.org/guidelineAnnotation/PA166303941" + ], + "citations": [ + { + "pmid": "30499100", + "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", + "authors": [ + "Gonsalves Stephen G", + "Dirksen Robert T", + "Sangkuhl Katrin", + "Pulk Rebecca", + "Alvarellos Maria", + "Vo Teresa", + "Hikino Keiko", + "Roden Dan", + "Klein Teri E", + "Poler S Mark", + "Patel Sephalie", + "Caudle Kelly E", + "Gordon Ronald", + "Brandom Barbara", + "Biesecker Leslie G" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2019 + } + ], + "guidelines": [ { "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", "annotations": [ { "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." ], "drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.", "classification": "Strong", @@ -27133,6 +30700,39 @@ "genotypes": [ { "diplotypes": [ + { + "allele1": { + "gene": "CACNA1S", + "name": "Reference", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "allele2": { + "gene": "CACNA1S", + "name": "Reference", + "function": "Normal function", + "reference": true, + "activityValue": "n/a" + }, + "gene": "CACNA1S", + "phenotypes": [ + "Uncertain Susceptibility" + ], + "outsidePhenotype": false, + "outsidePhenotypeMismatch": null, + "activityScore": null, + "outsideActivityScore": false, + "outsideActivityScoreMismatch": null, + "variant": null, + "lookupKey": [ + "Uncertain Susceptibility" + ], + "label": "Reference/Reference", + "inferred": false, + "combination": false, + "phenotypeDataSource": "CPIC" + }, { "allele1": { "gene": "RYR1", @@ -27183,7 +30783,7 @@ "name": "tacrolimus", "id": "PA451578", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27220,7 +30820,7 @@ "id": "PA166124619", "name": "Annotation of CPIC Guideline for tacrolimus and CYP3A5", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166124619", "annotations": [ { @@ -27284,7 +30884,7 @@ "name": "tafenoquine", "id": "PA166115580", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -27386,7 +30986,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -27450,7 +31050,7 @@ "name": "tamoxifen", "id": "PA451581", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27486,7 +31086,7 @@ "id": "PA166176068", "name": "Annotation of CPIC Guideline for tamoxifen and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176068", "annotations": [] } @@ -27496,7 +31096,7 @@ "name": "tenoxicam", "id": "PA131890625", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27526,7 +31126,7 @@ "id": "PA166192341", "name": "Annotation of CPIC Guideline for tenoxicam and CYP2C9", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192341", "annotations": [ { @@ -27590,7 +31190,7 @@ "name": "thioguanine", "id": "PA451663", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27666,7 +31266,7 @@ "id": "PA166104965", "name": "Annotation of CPIC Guideline for thioguanine and NUDT15, TPMT", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104965", "annotations": [ { @@ -27764,7 +31364,7 @@ "name": "tobramycin", "id": "PA451704", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -27797,7 +31397,7 @@ "id": "PA166229081", "name": "Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081", "annotations": [] } @@ -27807,7 +31407,7 @@ "name": "toluidine blue", "id": "PA166268821", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "G6PD hemizygous samples", @@ -27909,7 +31509,7 @@ "id": "PA166119846", "name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846", "annotations": [ { @@ -27973,7 +31573,7 @@ "name": "tramadol", "id": "PA451735", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28015,7 +31615,7 @@ "id": "PA166228101", "name": "Annotation of CPIC Guideline for tramadol and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228101", "annotations": [] } @@ -28025,7 +31625,7 @@ "name": "trimipramine", "id": "PA451791", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28079,7 +31679,7 @@ "id": "PA166105001", "name": "Annotation of CPIC Guideline for trimipramine and CYP2C19, CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105001", "annotations": [ { @@ -28177,7 +31777,7 @@ "name": "tropisetron", "id": "PA161925594", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28209,7 +31809,7 @@ "id": "PA166161955", "name": "Annotation of CPIC Guideline for tropisetron and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161955", "annotations": [] } @@ -28219,7 +31819,7 @@ "name": "venlafaxine", "id": "PA451866", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28258,7 +31858,7 @@ "id": "PA166288201", "name": "Annotation of CPIC Guideline for venlafaxine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288201", "annotations": [] } @@ -28268,7 +31868,7 @@ "name": "voriconazole", "id": "PA10233", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28302,7 +31902,7 @@ "id": "PA166161537", "name": "Annotation of CPIC Guideline for voriconazole and CYP2C19", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161537", "annotations": [ { @@ -28419,7 +32019,7 @@ "name": "vortioxetine", "id": "PA166122595", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28458,7 +32058,7 @@ "id": "PA166288221", "name": "Annotation of CPIC Guideline for vortioxetine and CYP2D6", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288221", "annotations": [] } @@ -28468,7 +32068,7 @@ "name": "warfarin", "id": "PA451906", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "pcat-cpic-warfarin-1-flowchart", @@ -28562,7 +32162,7 @@ "id": "PA166104949", "name": "Annotation of CPIC Guideline for warfarin and CYP2C9, CYP4F2, VKORC1", "source": "CPIC", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104949", "annotations": [ { @@ -28686,7 +32286,7 @@ "name": "abacavir", "id": "PA448004", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28721,7 +32321,7 @@ "id": "PA166104991", "name": "Annotation of DPWG Guideline for abacavir and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104991", "annotations": [] } @@ -28731,7 +32331,7 @@ "name": "acenocoumarol", "id": "PA452632", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28766,7 +32366,7 @@ "id": "PA166104938", "name": "Annotation of DPWG Guideline for acenocoumarol and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104938", "annotations": [ { @@ -28830,7 +32430,7 @@ "name": "allopurinol", "id": "PA448320", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28867,7 +32467,7 @@ "id": "PA166264961", "name": "Annotation of DPWG Guideline for allopurinol and ABCG2", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166264961", "annotations": [ { @@ -28929,7 +32529,7 @@ "id": "PA166265141", "name": "Annotation of DPWG Guideline for allopurinol and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265141", "annotations": [] } @@ -28939,7 +32539,7 @@ "name": "amitriptyline", "id": "PA448385", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -28974,7 +32574,7 @@ "id": "PA166104982", "name": "Annotation of DPWG Guideline for amitriptyline and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104982", "annotations": [] } @@ -28984,7 +32584,7 @@ "name": "aripiprazole", "id": "PA10026", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29042,7 +32642,7 @@ "id": "PA166104937", "name": "Annotation of DPWG Guideline for aripiprazole and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104937", "annotations": [] } @@ -29052,7 +32652,7 @@ "name": "atomoxetine", "id": "PA134688071", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29102,7 +32702,7 @@ "Risselada Arne" ], "journal": "European journal of human genetics : EJHG", - "year": 2022 + "year": 2023 } ], "guidelines": [ @@ -29110,7 +32710,7 @@ "id": "PA166104989", "name": "Annotation of DPWG Guideline for atomoxetine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104989", "annotations": [] } @@ -29120,7 +32720,7 @@ "name": "atorvastatin", "id": "PA448500", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -29156,7 +32756,7 @@ "id": "PA166182843", "name": "Annotation of DPWG Guideline for atorvastatin and SLCO1B1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182843", "annotations": [ { @@ -29220,7 +32820,7 @@ "name": "azathioprine", "id": "PA448515", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29256,7 +32856,7 @@ "id": "PA166184614", "name": "Annotation of DPWG Guideline for azathioprine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184614", "annotations": [ { @@ -29318,7 +32918,7 @@ "id": "PA166104934", "name": "Annotation of DPWG Guideline for azathioprine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104934", "annotations": [ { @@ -29382,7 +32982,7 @@ "name": "brexpiprazole", "id": "PA166160053", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29418,7 +33018,7 @@ "id": "PA166184527", "name": "Annotation of DPWG Guideline for brexpiprazole and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184527", "annotations": [] } @@ -29428,7 +33028,7 @@ "name": "capecitabine", "id": "PA448771", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -29507,7 +33107,7 @@ "id": "PA166104963", "name": "Annotation of DPWG Guideline for capecitabine and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104963", "annotations": [ { @@ -29571,7 +33171,7 @@ "name": "carbamazepine", "id": "PA448785", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29584,7 +33184,7 @@ "id": "PA166265161", "name": "Annotation of DPWG Guideline for carbamazepine and HLA-A", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265161", "annotations": [] }, @@ -29592,7 +33192,7 @@ "id": "PA166265162", "name": "Annotation of DPWG Guideline for carbamazepine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265162", "annotations": [] } @@ -29602,7 +33202,7 @@ "name": "citalopram", "id": "PA449015", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29660,7 +33260,7 @@ "id": "PA166104977", "name": "Annotation of DPWG Guideline for citalopram and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104977", "annotations": [ { @@ -29724,7 +33324,7 @@ "name": "clomipramine", "id": "PA449048", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29760,7 +33360,7 @@ "id": "PA166184528", "name": "Annotation of DPWG Guideline for clomipramine and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184528", "annotations": [ { @@ -29822,7 +33422,7 @@ "id": "PA166104964", "name": "Annotation of DPWG Guideline for clomipramine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104964", "annotations": [] } @@ -29832,7 +33432,7 @@ "name": "clopidogrel", "id": "PA449053", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29867,7 +33467,7 @@ "id": "PA166104956", "name": "Annotation of DPWG Guideline for clopidogrel and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104956", "annotations": [ { @@ -29931,7 +33531,7 @@ "name": "codeine", "id": "PA449088", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -29988,7 +33588,7 @@ "id": "PA166104970", "name": "Annotation of DPWG Guideline for codeine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104970", "annotations": [] } @@ -29998,7 +33598,7 @@ "name": "doxepin", "id": "PA449409", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30033,7 +33633,7 @@ "id": "PA166104994", "name": "Annotation of DPWG Guideline for doxepin and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104994", "annotations": [] } @@ -30043,7 +33643,7 @@ "name": "efavirenz", "id": "PA449441", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "CYP2B6 *1/*6 warning", @@ -30075,7 +33675,7 @@ "id": "PA166182846", "name": "Annotation of DPWG Guideline for efavirenz and CYP2B6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182846", "annotations": [ { @@ -30139,7 +33739,7 @@ "name": "eliglustat", "id": "PA166123486", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30151,7 +33751,7 @@ "id": "PA166182823", "name": "Annotation of DPWG Guideline for eliglustat and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182823", "annotations": [] } @@ -30161,7 +33761,7 @@ "name": "escitalopram", "id": "PA10074", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30219,7 +33819,7 @@ "id": "PA166104975", "name": "Annotation of DPWG Guideline for escitalopram and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104975", "annotations": [ { @@ -30283,7 +33883,7 @@ "name": "flecainide", "id": "PA449646", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30318,7 +33918,7 @@ "id": "PA166104969", "name": "Annotation of DPWG Guideline for flecainide and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104969", "annotations": [] } @@ -30328,7 +33928,7 @@ "name": "flucloxacillin", "id": "PA164781042", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30340,7 +33940,7 @@ "id": "PA166182810", "name": "Annotation of DPWG Guideline for flucloxacillin and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182810", "annotations": [] } @@ -30350,7 +33950,7 @@ "name": "flucytosine", "id": "PA449654", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -30383,7 +33983,7 @@ "id": "PA166222801", "name": "Annotation of DPWG Guideline for flucytosine and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166222801", "annotations": [ { @@ -30447,7 +34047,7 @@ "name": "fluorouracil", "id": "PA128406956", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -30526,7 +34126,7 @@ "id": "PA166104939", "name": "Annotation of DPWG Guideline for fluorouracil and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104939", "annotations": [ { @@ -30590,7 +34190,7 @@ "name": "haloperidol", "id": "PA449841", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30648,7 +34248,7 @@ "id": "PA166104988", "name": "Annotation of DPWG Guideline for haloperidol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104988", "annotations": [] } @@ -30658,7 +34258,7 @@ "name": "hormonal contraceptives for systemic use", "id": "PA452637", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30693,7 +34293,7 @@ "id": "PA166104955", "name": "Annotation of DPWG Guideline for hormonal contraceptives for systemic use and F5", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104955", "annotations": [ { @@ -30757,7 +34357,7 @@ "name": "imipramine", "id": "PA449969", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -30793,7 +34393,7 @@ "id": "PA166104954", "name": "Annotation of DPWG Guideline for imipramine and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104954", "annotations": [ { @@ -30855,7 +34455,7 @@ "id": "PA166104972", "name": "Annotation of DPWG Guideline for imipramine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104972", "annotations": [] } @@ -30865,7 +34465,7 @@ "name": "irinotecan", "id": "PA450085", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "irinotecan-DPWG", @@ -30942,7 +34542,7 @@ "id": "PA166104951", "name": "Annotation of DPWG Guideline for irinotecan and UGT1A1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104951", "annotations": [ { @@ -31006,7 +34606,7 @@ "name": "lamotrigine", "id": "PA450164", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31018,7 +34618,7 @@ "id": "PA166265341", "name": "Annotation of DPWG Guideline for lamotrigine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265341", "annotations": [] } @@ -31028,7 +34628,7 @@ "name": "lansoprazole", "id": "PA450180", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31063,7 +34663,7 @@ "id": "PA166104987", "name": "Annotation of DPWG Guideline for lansoprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104987", "annotations": [ { @@ -31127,7 +34727,7 @@ "name": "mercaptopurine", "id": "PA450379", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31163,7 +34763,7 @@ "id": "PA166184613", "name": "Annotation of DPWG Guideline for mercaptopurine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184613", "annotations": [ { @@ -31225,7 +34825,7 @@ "id": "PA166104952", "name": "Annotation of DPWG Guideline for mercaptopurine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104952", "annotations": [ { @@ -31289,7 +34889,7 @@ "name": "metoprolol", "id": "PA450480", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31324,7 +34924,7 @@ "id": "PA166104995", "name": "Annotation of DPWG Guideline for metoprolol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104995", "annotations": [] } @@ -31334,7 +34934,7 @@ "name": "nortriptyline", "id": "PA450657", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31369,7 +34969,7 @@ "id": "PA166104961", "name": "Annotation of DPWG Guideline for nortriptyline and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104961", "annotations": [] } @@ -31379,7 +34979,7 @@ "name": "omeprazole", "id": "PA450704", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31414,7 +35014,7 @@ "id": "PA166104957", "name": "Annotation of DPWG Guideline for omeprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104957", "annotations": [ { @@ -31478,7 +35078,7 @@ "name": "oxcarbazepine", "id": "PA450732", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31490,7 +35090,7 @@ "id": "PA166265201", "name": "Annotation of DPWG Guideline for oxcarbazepine and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265201", "annotations": [] } @@ -31500,7 +35100,7 @@ "name": "pantoprazole", "id": "PA450774", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31535,7 +35135,7 @@ "id": "PA166104958", "name": "Annotation of DPWG Guideline for pantoprazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104958", "annotations": [ { @@ -31599,7 +35199,7 @@ "name": "paroxetine", "id": "PA450801", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31657,7 +35257,7 @@ "id": "PA166104976", "name": "Annotation of DPWG Guideline for paroxetine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104976", "annotations": [] } @@ -31667,7 +35267,7 @@ "name": "phenprocoumon", "id": "PA450921", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31702,7 +35302,7 @@ "id": "PA166104940", "name": "Annotation of DPWG Guideline for phenprocoumon and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104940", "annotations": [ { @@ -31766,7 +35366,7 @@ "name": "phenytoin", "id": "PA450947", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [ { "rule_name": "Phenytoin_HLA-B warning", @@ -31821,7 +35421,7 @@ "id": "PA166104984", "name": "Annotation of DPWG Guideline for phenytoin and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104984", "annotations": [ { @@ -31883,7 +35483,7 @@ "id": "PA166264881", "name": "Annotation of DPWG Guideline for phenytoin and HLA-B", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166264881", "annotations": [] } @@ -31893,7 +35493,7 @@ "name": "pimozide", "id": "PA450965", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31929,7 +35529,7 @@ "id": "PA166182819", "name": "Annotation of DPWG Guideline for pimozide and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182819", "annotations": [] } @@ -31939,7 +35539,7 @@ "name": "propafenone", "id": "PA451131", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -31974,7 +35574,7 @@ "id": "PA166104962", "name": "Annotation of DPWG Guideline for propafenone and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104962", "annotations": [] } @@ -31984,7 +35584,7 @@ "name": "quetiapine", "id": "PA451201", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "CYP3A4", @@ -32038,7 +35638,7 @@ "id": "PA166265421", "name": "Annotation of DPWG Guideline for quetiapine and CYP3A4", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166265421", "annotations": [ { @@ -32102,7 +35702,7 @@ "name": "risperidone", "id": "PA451257", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32160,7 +35760,7 @@ "id": "PA166104943", "name": "Annotation of DPWG Guideline for risperidone and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104943", "annotations": [] } @@ -32170,7 +35770,7 @@ "name": "sertraline", "id": "PA451333", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32228,7 +35828,7 @@ "id": "PA166104980", "name": "Annotation of DPWG Guideline for sertraline and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104980", "annotations": [ { @@ -32292,7 +35892,7 @@ "name": "simvastatin", "id": "PA451363", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "SLCO1B1-drug text", @@ -32328,7 +35928,7 @@ "id": "PA166182844", "name": "Annotation of DPWG Guideline for simvastatin and SLCO1B1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182844", "annotations": [ { @@ -32392,7 +35992,7 @@ "name": "siponimod", "id": "PA166182736", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32404,7 +36004,7 @@ "id": "PA166211021", "name": "Annotation of DPWG Guideline for siponimod and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166211021", "annotations": [ { @@ -32468,7 +36068,7 @@ "name": "tacrolimus", "id": "PA451578", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32503,7 +36103,7 @@ "id": "PA166104983", "name": "Annotation of DPWG Guideline for tacrolimus and CYP3A5", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104983", "annotations": [ { @@ -32567,7 +36167,7 @@ "name": "tamoxifen", "id": "PA451581", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32602,7 +36202,7 @@ "id": "PA166104966", "name": "Annotation of DPWG Guideline for tamoxifen and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104966", "annotations": [] } @@ -32612,7 +36212,7 @@ "name": "tegafur", "id": "PA452620", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [ { "rule_name": "DPYD lowest activity score note", @@ -32691,7 +36291,7 @@ "id": "PA166104944", "name": "Annotation of DPWG Guideline for tegafur and DPYD", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104944", "annotations": [ { @@ -32755,7 +36355,7 @@ "name": "thioguanine", "id": "PA451663", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32791,7 +36391,7 @@ "id": "PA166184612", "name": "Annotation of DPWG Guideline for thioguanine and NUDT15", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184612", "annotations": [ { @@ -32853,7 +36453,7 @@ "id": "PA166104960", "name": "Annotation of DPWG Guideline for thioguanine and TPMT", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104960", "annotations": [ { @@ -32917,7 +36517,7 @@ "name": "tramadol", "id": "PA451735", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -32974,7 +36574,7 @@ "id": "PA166104959", "name": "Annotation of DPWG Guideline for tramadol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104959", "annotations": [] } @@ -32984,7 +36584,7 @@ "name": "venlafaxine", "id": "PA451866", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33019,7 +36619,7 @@ "id": "PA166104968", "name": "Annotation of DPWG Guideline for venlafaxine and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104968", "annotations": [] } @@ -33029,7 +36629,7 @@ "name": "voriconazole", "id": "PA10233", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33064,7 +36664,7 @@ "id": "PA166104990", "name": "Annotation of DPWG Guideline for voriconazole and CYP2C19", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104990", "annotations": [ { @@ -33128,7 +36728,7 @@ "name": "warfarin", "id": "PA451906", "source": "DPWG", - "version": "2023-10-05-00-25, 2023-10-05-00-25", + "version": "2023-12-19-10-38, 2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33141,7 +36741,7 @@ "id": "PA166182842", "name": "Annotation of DPWG Guideline for warfarin and CYP2C9", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182842", "annotations": [ { @@ -33203,7 +36803,7 @@ "id": "PA166182841", "name": "Annotation of DPWG Guideline for warfarin and VKORC1", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182841", "annotations": [ { @@ -33267,7 +36867,7 @@ "name": "zuclopenthixol", "id": "PA452629", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "messages": [], "variants": [], "urls": [ @@ -33325,7 +36925,7 @@ "id": "PA166104992", "name": "Annotation of DPWG Guideline for zuclopenthixol and CYP2D6", "source": "DPWG", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104992", "annotations": [] } diff --git a/docs/examples/pharmcat.example2.vcf b/docs/examples/pharmcat.example2.vcf index 5bb432d42..5d8d69f33 100644 --- a/docs/examples/pharmcat.example2.vcf +++ b/docs/examples/pharmcat.example2.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##source=PharmCAT allele definitions -##fileDate=2023-09-27T19:48:25-07:00 +##fileDate=2023-12-19T08:54:58.431-08:00 ##contig= ##contig= ##contig= @@ -158,7 +158,7 @@ chr7 99665212 rs10264272 C T . PASS PX=CYP3A5 GT 0/0 chr7 99672916 rs776746 T C . PASS PX=CYP3A5 GT 0/0 chr7 99676198 rs55817950 G A . PASS PX=CYP3A5 GT 0/0 chr7 99758183 rs67666821 G GT . PASS PX=CYP3A4 GT 0/0 -chr7 99758228 . T A . PASS PX=CYP3A4 GT 0/0 +chr7 99758228 rs1584538410 T A . PASS PX=CYP3A4 GT 0/0 chr7 99760836 rs4986913 G A . PASS PX=CYP3A4 GT 0/0 chr7 99760901 rs4986910 A G . PASS PX=CYP3A4 GT 0/0 chr7 99760956 rs774109750 T C . PASS PX=CYP3A4 GT 0/0 @@ -415,50 +415,319 @@ chr19 15897466 rs201380574 C T . PASS PX=CYP4F2 GT 0/0 chr19 15897473 rs115517770 G A . PASS PX=CYP4F2 GT 0/0 chr19 15897566 rs114099324 C G . PASS PX=CYP4F2 GT 0/0 chr19 15897578 rs3093105 A C . PASS PX=CYP4F2 GT 0/0 +chr19 38433867 rs193922744 T G . PASS PX=RYR1 GT 0/0 +chr19 38440747 rs193922745 CGAT C . PASS PX=RYR1 GT 0/0 +chr19 38440796 rs193922746 A G . PASS PX=RYR1 GT 0/0 chr19 38440802 rs193922747 T C . PASS PX=RYR1 GT 0/0 +chr19 38440818 . G C . PASS PX=RYR1 GT 0/0 chr19 38440829 rs193922748 C T . PASS PX=RYR1 GT 0/0 +chr19 38440830 rs139161723 G A . PASS PX=RYR1 GT 0/0 +chr19 38440851 rs193922749 C A . PASS PX=RYR1 GT 0/0 +chr19 38442361 rs118192160 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38442373 rs995399438 T C . PASS PX=RYR1 GT 0/0 +chr19 38442395 rs118192113 C A . PASS PX=RYR1 GT 0/0 +chr19 38442434 rs186983396 C T . PASS PX=RYR1 GT 0/0 +chr19 38443790 rs142474192 G A . PASS PX=RYR1 GT 0/0 +chr19 38444179 . C A . PASS PX=RYR1 GT 0/0 +chr19 38444187 rs193922750 C A . PASS PX=RYR1 GT 0/0 +chr19 38444191 rs193922751 G A . PASS PX=RYR1 GT 0/0 +chr19 38444203 rs193922752 A G . PASS PX=RYR1 GT 0/0 chr19 38444211 rs118192161 C T . PASS PX=RYR1 GT 0/0 -chr19 38444212 rs193922753 G T . PASS PX=RYR1 GT 0/0 +chr19 38444212 rs193922753 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38444217 rs193922754 G A . PASS PX=RYR1 GT 0/0 +chr19 38444220 rs193922755 G A . PASS PX=RYR1 GT 0/0 +chr19 38444221 rs193922756 A G . PASS PX=RYR1 GT 0/0 +chr19 38444250 rs761616815 G A . PASS PX=RYR1 GT 0/0 +chr19 38444252 . G T . PASS PX=RYR1 GT 0/0 +chr19 38444253 rs193922757 C T . PASS PX=RYR1 GT 0/0 +chr19 38444257 . A C,G . PASS PX=RYR1 GT 0/0 +chr19 38444671 rs771058055 G A . PASS PX=RYR1 GT 0/0 +chr19 38446481 rs727504129 C T . PASS PX=RYR1 GT 0/0 +chr19 38446492 rs193922759 G A . PASS PX=RYR1 GT 0/0 +chr19 38446517 rs112596687 T A . PASS PX=RYR1 GT 0/0 +chr19 38446520 rs193922760 A T . PASS PX=RYR1 GT 0/0 chr19 38446710 rs1801086 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38448500 rs752652072 C T . PASS PX=RYR1 GT 0/0 +chr19 38448501 rs193922761 G T . PASS PX=RYR1 GT 0/0 chr19 38448673 rs193922762 C T . PASS PX=RYR1 GT 0/0 +chr19 38448680 . T TGGA . PASS PX=RYR1 GT 0/0 chr19 38448712 rs121918592 G A,C . PASS PX=RYR1 GT 0/0 -chr19 38451842 rs193922764 C T . PASS PX=RYR1 GT 0/0 +chr19 38448715 . G A . PASS PX=RYR1 GT 0/0 +chr19 38448791 rs113332073 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38451785 . C A . PASS PX=RYR1 GT 0/0 +chr19 38451842 rs193922764 C A,G,T . PASS PX=RYR1 GT 0/0 +chr19 38451843 rs193922766 G A,T . PASS PX=RYR1 GT 0/0 chr19 38451850 rs118192116 C G . PASS PX=RYR1 GT 0/0 -chr19 38455359 rs118192162 A C . PASS PX=RYR1 GT 0/0 +chr19 38452985 . C T . PASS PX=RYR1 GT 0/0 +chr19 38452996 rs193922767 G T . PASS PX=RYR1 GT 0/0 +chr19 38455247 rs147723844 A G . PASS PX=RYR1 GT 0/0 +chr19 38455253 . C G . PASS PX=RYR1 GT 0/0 +chr19 38455254 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455269 rs901087791 G A . PASS PX=RYR1 GT 0/0 +chr19 38455347 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455359 rs118192162 A C,G . PASS PX=RYR1 GT 0/0 chr19 38455463 rs111888148 G A . PASS PX=RYR1 GT 0/0 -chr19 38455471 rs193922768 C T . PASS PX=RYR1 GT 0/0 +chr19 38455471 rs193922768 C A,T . PASS PX=RYR1 GT 0/0 chr19 38455472 rs144336148 G A . PASS PX=RYR1 GT 0/0 +chr19 38455489 rs193922769 T C,G . PASS PX=RYR1 GT 0/0 +chr19 38455504 . G T . PASS PX=RYR1 GT 0/0 chr19 38455528 rs193922770 C T . PASS PX=RYR1 GT 0/0 +chr19 38457539 rs118204423 G C . PASS PX=RYR1 GT 0/0 chr19 38457545 rs118192172 C T . PASS PX=RYR1 GT 0/0 chr19 38457546 rs193922772 G T . PASS PX=RYR1 GT 0/0 +chr19 38458175 rs747177274 G C . PASS PX=RYR1 GT 0/0 +chr19 38458247 rs138874610 G A . PASS PX=RYR1 GT 0/0 +chr19 38460461 rs376149732 C T . PASS PX=RYR1 GT 0/0 +chr19 38460551 rs193922775 C T . PASS PX=RYR1 GT 0/0 +chr19 38463499 rs370634440 G A . PASS PX=RYR1 GT 0/0 +chr19 38464649 rs148623597 G A . PASS PX=RYR1 GT 0/0 +chr19 38466144 rs778241277 G A . PASS PX=RYR1 GT 0/0 +chr19 38466216 rs180714609 G A . PASS PX=RYR1 GT 0/0 +chr19 38466315 rs141942845 G A . PASS PX=RYR1 GT 0/0 +chr19 38466347 rs111272095 C T . PASS PX=RYR1 GT 0/0 +chr19 38466386 rs2145447772 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38466392 . G A . PASS PX=RYR1 GT 0/0 +chr19 38467655 rs749040743 G A . PASS PX=RYR1 GT 0/0 +chr19 38469002 rs193922776 C T . PASS PX=RYR1 GT 0/0 +chr19 38469111 rs549201486 C T . PASS PX=RYR1 GT 0/0 +chr19 38469404 . A C . PASS PX=RYR1 GT 0/0 +chr19 38469415 rs936513262 G A . PASS PX=RYR1 GT 0/0 +chr19 38473635 rs34694816 A G . PASS PX=RYR1 GT 0/0 +chr19 38475335 rs137933390 A G . PASS PX=RYR1 GT 0/0 +chr19 38477816 rs145573319 A G . PASS PX=RYR1 GT 0/0 +chr19 38483293 rs146429605 A G . PASS PX=RYR1 GT 0/0 +chr19 38483329 rs754476250 C T . PASS PX=RYR1 GT 0/0 +chr19 38483345 rs151029675 C T . PASS PX=RYR1 GT 0/0 +chr19 38483357 rs193922777 C T . PASS PX=RYR1 GT 0/0 +chr19 38485679 . T C . PASS PX=RYR1 GT 0/0 +chr19 38485688 rs781104539 A G . PASS PX=RYR1 GT 0/0 +chr19 38485691 rs146504767 G A . PASS PX=RYR1 GT 0/0 +chr19 38485787 rs754785770 A G . PASS PX=RYR1 GT 0/0 +chr19 38485838 rs193922781 C T . PASS PX=RYR1 GT 0/0 +chr19 38485841 rs193922782 T G . PASS PX=RYR1 GT 0/0 +chr19 38485972 rs192863857 C T . PASS PX=RYR1 GT 0/0 +chr19 38485996 rs372958050 T C . PASS PX=RYR1 GT 0/0 +chr19 38486015 rs34934920 C T . PASS PX=RYR1 GT 0/0 +chr19 38486095 . A G . PASS PX=RYR1 GT 0/0 +chr19 38486096 rs193922783 T A . PASS PX=RYR1 GT 0/0 +chr19 38490151 rs145801146 C T . PASS PX=RYR1 GT 0/0 +chr19 38490642 . A C . PASS PX=RYR1 GT 0/0 +chr19 38492540 rs35364374 G T . PASS PX=RYR1 GT 0/0 +chr19 38494379 rs746818096 T A . PASS PX=RYR1 GT 0/0 +chr19 38494381 rs770593660 G C . PASS PX=RYR1 GT 0/0 +chr19 38494426 rs193922788 G C . PASS PX=RYR1 GT 0/0 +chr19 38494454 . G A . PASS PX=RYR1 GT 0/0 +chr19 38494464 rs117886618 C G . PASS PX=RYR1 GT 0/0 +chr19 38494465 rs193922789 G A . PASS PX=RYR1 GT 0/0 +chr19 38494555 rs143398211 G A . PASS PX=RYR1 GT 0/0 chr19 38494564 rs118192175 C T . PASS PX=RYR1 GT 0/0 -chr19 38494565 rs118192163 G A . PASS PX=RYR1 GT 0/0 +chr19 38494565 rs118192163 G A,C,T . PASS PX=RYR1 GT 0/0 chr19 38494579 rs118192176 G A . PASS PX=RYR1 GT 0/0 +chr19 38494621 rs193922790 A T . PASS PX=RYR1 GT 0/0 +chr19 38494625 rs959170123 G A . PASS PX=RYR1 GT 0/0 +chr19 38496265 rs193922791 C T . PASS PX=RYR1 GT 0/0 +chr19 38496278 rs141646642 C G . PASS PX=RYR1 GT 0/0 chr19 38496283 rs118192177 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38496294 rs193922792 G T . PASS PX=RYR1 GT 0/0 +chr19 38496301 rs193922793 T A . PASS PX=RYR1 GT 0/0 +chr19 38496306 rs193922795 G A . PASS PX=RYR1 GT 0/0 +chr19 38496415 rs199870223 C T . PASS PX=RYR1 GT 0/0 +chr19 38496416 rs537994744 G A . PASS PX=RYR1 GT 0/0 +chr19 38496455 . G A . PASS PX=RYR1 GT 0/0 +chr19 38496487 rs763352221 C T . PASS PX=RYR1 GT 0/0 +chr19 38496488 rs140152019 G A . PASS PX=RYR1 GT 0/0 +chr19 38496502 rs917523269 C T . PASS PX=RYR1 GT 0/0 +chr19 38496901 rs193922797 G A . PASS PX=RYR1 GT 0/0 +chr19 38496910 rs118192121 A C . PASS PX=RYR1 GT 0/0 +chr19 38499177 rs34390345 A G . PASS PX=RYR1 GT 0/0 chr19 38499223 rs112563513 G A . PASS PX=RYR1 GT 0/0 +chr19 38499234 . T C . PASS PX=RYR1 GT 0/0 +chr19 38499241 rs147213895 A G . PASS PX=RYR1 GT 0/0 +chr19 38499639 rs193922798 G C . PASS PX=RYR1 GT 0/0 +chr19 38499642 . C A . PASS PX=RYR1 GT 0/0 +chr19 38499643 rs193922799 G A . PASS PX=RYR1 GT 0/0 chr19 38499644 rs121918596 TGGA T . PASS PX=RYR1 GT 0/0 +chr19 38499650 rs193922801 A G . PASS PX=RYR1 GT 0/0 chr19 38499655 rs193922802 G A . PASS PX=RYR1 GT 0/0 +chr19 38499667 . G A . PASS PX=RYR1 GT 0/0 chr19 38499670 rs193922803 C T . PASS PX=RYR1 GT 0/0 +chr19 38499680 . T A . PASS PX=RYR1 GT 0/0 +chr19 38499682 rs769482889 C T . PASS PX=RYR1 GT 0/0 +chr19 38499683 . G A . PASS PX=RYR1 GT 0/0 +chr19 38499691 rs762401851 G A . PASS PX=RYR1 GT 0/0 +chr19 38499692 rs193922804 A G . PASS PX=RYR1 GT 0/0 +chr19 38499696 . C G . PASS PX=RYR1 GT 0/0 +chr19 38499697 rs193922805 T G . PASS PX=RYR1 GT 0/0 +chr19 38499704 rs193922806 C G . PASS PX=RYR1 GT 0/0 +chr19 38499706 rs146306934 G A . PASS PX=RYR1 GT 0/0 +chr19 38499719 . A G . PASS PX=RYR1 GT 0/0 +chr19 38499730 . G A . PASS PX=RYR1 GT 0/0 chr19 38499731 rs193922807 G C . PASS PX=RYR1 GT 0/0 +chr19 38499806 rs976108591 A G . PASS PX=RYR1 GT 0/0 +chr19 38499817 rs111364296 G A . PASS PX=RYR1 GT 0/0 chr19 38499975 rs193922809 G A . PASS PX=RYR1 GT 0/0 +chr19 38499984 rs193922810 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38499985 . A T . PASS PX=RYR1 GT 0/0 chr19 38499993 rs121918593 G A . PASS PX=RYR1 GT 0/0 -chr19 38499997 rs28933396 G A . PASS PX=RYR1 GT 0/0 +chr19 38499997 rs28933396 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500000 . G A . PASS PX=RYR1 GT 0/0 +chr19 38500003 rs193922812 C T . PASS PX=RYR1 GT 0/0 +chr19 38500010 rs193922813 G C . PASS PX=RYR1 GT 0/0 chr19 38500636 rs118192124 C T . PASS PX=RYR1 GT 0/0 +chr19 38500637 rs193922815 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38500640 rs118192123 T C . PASS PX=RYR1 GT 0/0 chr19 38500642 rs193922816 C T . PASS PX=RYR1 GT 0/0 chr19 38500643 rs118192122 G A . PASS PX=RYR1 GT 0/0 chr19 38500654 rs28933397 C T . PASS PX=RYR1 GT 0/0 -chr19 38500655 rs121918594 G A . PASS PX=RYR1 GT 0/0 +chr19 38500655 rs121918594 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500667 rs551223467 C T . PASS PX=RYR1 GT 0/0 +chr19 38500863 rs193922817 C T . PASS PX=RYR1 GT 0/0 chr19 38500898 rs118192178 C G,T . PASS PX=RYR1 GT 0/0 chr19 38500899 rs193922818 G A . PASS PX=RYR1 GT 0/0 +chr19 38500904 rs193922819 T C . PASS PX=RYR1 GT 0/0 +chr19 38502652 rs767553612 A G . PASS PX=RYR1 GT 0/0 +chr19 38502663 rs193922822 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38502669 . C G . PASS PX=RYR1 GT 0/0 +chr19 38502670 rs751180702 G A . PASS PX=RYR1 GT 0/0 +chr19 38502679 rs193922824 C T . PASS PX=RYR1 GT 0/0 +chr19 38502708 rs748575133 T A . PASS PX=RYR1 GT 0/0 +chr19 38502923 rs914804033 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38504298 . G A . PASS PX=RYR1 GT 0/0 +chr19 38504319 rs193922826 C T . PASS PX=RYR1 GT 0/0 +chr19 38504347 rs781126470 C T . PASS PX=RYR1 GT 0/0 +chr19 38504868 rs193922827 G C . PASS PX=RYR1 GT 0/0 +chr19 38504869 rs112196644 A G . PASS PX=RYR1 GT 0/0 +chr19 38504878 rs193922828 G A . PASS PX=RYR1 GT 0/0 +chr19 38505061 rs193922829 G A . PASS PX=RYR1 GT 0/0 +chr19 38505325 rs147707463 C T . PASS PX=RYR1 GT 0/0 +chr19 38505358 rs35180584 C G . PASS PX=RYR1 GT 0/0 +chr19 38505923 rs193922830 C T . PASS PX=RYR1 GT 0/0 +chr19 38505932 rs768535909 T C . PASS PX=RYR1 GT 0/0 +chr19 38506361 rs193922831 T A . PASS PX=RYR1 GT 0/0 +chr19 38506492 rs112772310 G A . PASS PX=RYR1 GT 0/0 +chr19 38506508 . C G . PASS PX=RYR1 GT 0/0 +chr19 38506865 . C T . PASS PX=RYR1 GT 0/0 +chr19 38507821 . C T . PASS PX=RYR1 GT 0/0 +chr19 38511590 rs147303895 G A . PASS PX=RYR1 GT 0/0 +chr19 38512279 . G A . PASS PX=RYR1 GT 0/0 chr19 38512321 rs193922832 G A . PASS PX=RYR1 GT 0/0 +chr19 38512367 rs193922833 G A . PASS PX=RYR1 GT 0/0 +chr19 38515052 . C T . PASS PX=RYR1 GT 0/0 +chr19 38516167 rs199738299 A G . PASS PX=RYR1 GT 0/0 +chr19 38516181 . T C . PASS PX=RYR1 GT 0/0 +chr19 38516184 rs553055844 G A . PASS PX=RYR1 GT 0/0 +chr19 38516208 . G C . PASS PX=RYR1 GT 0/0 +chr19 38517431 rs375626634 T C . PASS PX=RYR1 GT 0/0 +chr19 38517470 . T C . PASS PX=RYR1 GT 0/0 +chr19 38517521 rs757753317 G A . PASS PX=RYR1 GT 0/0 +chr19 38517523 . T A . PASS PX=RYR1 GT 0/0 +chr19 38517541 rs112151058 G A . PASS PX=RYR1 GT 0/0 +chr19 38519237 rs118204421 C T . PASS PX=RYR1 GT 0/0 +chr19 38519238 rs193922834 G A . PASS PX=RYR1 GT 0/0 +chr19 38519292 rs137932199 G A . PASS PX=RYR1 GT 0/0 +chr19 38519295 rs118192126 A G . PASS PX=RYR1 GT 0/0 +chr19 38519424 . C A . PASS PX=RYR1 GT 0/0 +chr19 38519432 . A T . PASS PX=RYR1 GT 0/0 +chr19 38519447 . A G . PASS PX=RYR1 GT 0/0 +chr19 38525432 . C T . PASS PX=RYR1 GT 0/0 +chr19 38525492 rs143987857 G A . PASS PX=RYR1 GT 0/0 +chr19 38527707 rs55876273 G C . PASS PX=RYR1 GT 0/0 +chr19 38527710 . G C . PASS PX=RYR1 GT 0/0 +chr19 38528372 . G T . PASS PX=RYR1 GT 0/0 +chr19 38529002 . G C . PASS PX=RYR1 GT 0/0 +chr19 38529036 rs193922838 G T . PASS PX=RYR1 GT 0/0 +chr19 38529042 . C T . PASS PX=RYR1 GT 0/0 +chr19 38529048 rs375915752 C T . PASS PX=RYR1 GT 0/0 +chr19 38534726 rs4802584 C G . PASS PX=RYR1 GT 0/0 +chr19 38534774 rs763112609 C T . PASS PX=RYR1 GT 0/0 +chr19 38534775 rs193922839 G A . PASS PX=RYR1 GT 0/0 +chr19 38535197 rs111565359 G A . PASS PX=RYR1 GT 0/0 +chr19 38535998 rs140616359 G A . PASS PX=RYR1 GT 0/0 +chr19 38543365 rs148399313 G A . PASS PX=RYR1 GT 0/0 +chr19 38543380 . A T . PASS PX=RYR1 GT 0/0 +chr19 38543405 rs193922840 T G . PASS PX=RYR1 GT 0/0 +chr19 38543551 rs147136339 A G . PASS PX=RYR1 GT 0/0 +chr19 38543566 . G A . PASS PX=RYR1 GT 0/0 +chr19 38543810 . C T . PASS PX=RYR1 GT 0/0 +chr19 38543816 rs118204422 T C . PASS PX=RYR1 GT 0/0 +chr19 38543821 rs193922842 C G . PASS PX=RYR1 GT 0/0 chr19 38543832 rs193922843 G T . PASS PX=RYR1 GT 0/0 +chr19 38546460 rs755088027 G A . PASS PX=RYR1 GT 0/0 +chr19 38546496 rs773040531 A G . PASS PX=RYR1 GT 0/0 +chr19 38548253 . A T . PASS PX=RYR1 GT 0/0 +chr19 38548259 rs144685735 C T . PASS PX=RYR1 GT 0/0 +chr19 38548287 rs193922844 C A . PASS PX=RYR1 GT 0/0 +chr19 38548380 rs373406011 C T . PASS PX=RYR1 GT 0/0 +chr19 38561140 . G C . PASS PX=RYR1 GT 0/0 +chr19 38561185 rs193922848 A T . PASS PX=RYR1 GT 0/0 +chr19 38561213 . C T . PASS PX=RYR1 GT 0/0 +chr19 38561228 rs201321695 A G . PASS PX=RYR1 GT 0/0 +chr19 38561236 rs193922849 C A . PASS PX=RYR1 GT 0/0 +chr19 38561243 rs193922850 T C . PASS PX=RYR1 GT 0/0 +chr19 38561362 . G A . PASS PX=RYR1 GT 0/0 +chr19 38561363 . G T . PASS PX=RYR1 GT 0/0 +chr19 38561383 rs151119428 G A . PASS PX=RYR1 GT 0/0 +chr19 38565023 . T G . PASS PX=RYR1 GT 0/0 +chr19 38565034 rs193922852 G C,T . PASS PX=RYR1 GT 0/0 +chr19 38565182 rs193922853 A T . PASS PX=RYR1 GT 0/0 +chr19 38565215 rs587784372 C T . PASS PX=RYR1 GT 0/0 +chr19 38565218 rs193922855 C T . PASS PX=RYR1 GT 0/0 +chr19 38566978 rs139647387 A G . PASS PX=RYR1 GT 0/0 +chr19 38566986 rs150396398 G C . PASS PX=RYR1 GT 0/0 +chr19 38570619 rs771741606 C T . PASS PX=RYR1 GT 0/0 +chr19 38570620 rs118192130 G A . PASS PX=RYR1 GT 0/0 +chr19 38570649 . C G . PASS PX=RYR1 GT 0/0 +chr19 38572032 rs143520367 C T . PASS PX=RYR1 GT 0/0 +chr19 38572185 rs118192135 G A . PASS PX=RYR1 GT 0/0 +chr19 38572190 rs756850145 A G . PASS PX=RYR1 GT 0/0 +chr19 38572206 rs193922860 G A . PASS PX=RYR1 GT 0/0 +chr19 38572262 rs759500310 T C . PASS PX=RYR1 GT 0/0 +chr19 38572266 rs193922862 TC CT . PASS PX=RYR1 GT 0/0 +chr19 38573180 rs193922863 C T . PASS PX=RYR1 GT 0/0 +chr19 38573229 rs193922864 T C . PASS PX=RYR1 GT 0/0 +chr19 38573304 rs118192140 C T . PASS PX=RYR1 GT 0/0 +chr19 38575957 rs200766617 G A . PASS PX=RYR1 GT 0/0 +chr19 38577931 . A C . PASS PX=RYR1 GT 0/0 +chr19 38577942 rs193922865 T G . PASS PX=RYR1 GT 0/0 +chr19 38577946 rs193922866 G A . PASS PX=RYR1 GT 0/0 +chr19 38577954 rs193922867 C T . PASS PX=RYR1 GT 0/0 +chr19 38577955 rs193922868 G A . PASS PX=RYR1 GT 0/0 +chr19 38578015 rs768360593 G A . PASS PX=RYR1 GT 0/0 +chr19 38578205 . G T . PASS PX=RYR1 GT 0/0 chr19 38580004 rs118192167 A G . PASS PX=RYR1 GT 0/0 +chr19 38580039 . TT AA . PASS PX=RYR1 GT 0/0 +chr19 38580041 . C A . PASS PX=RYR1 GT 0/0 +chr19 38580066 rs143988412 A T . PASS PX=RYR1 GT 0/0 +chr19 38580075 rs193922873 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38580088 rs193922874 T C . PASS PX=RYR1 GT 0/0 chr19 38580094 rs121918595 C T . PASS PX=RYR1 GT 0/0 chr19 38580114 rs193922876 C T . PASS PX=RYR1 GT 0/0 +chr19 38580126 . C G . PASS PX=RYR1 GT 0/0 chr19 38580370 rs193922878 C G . PASS PX=RYR1 GT 0/0 +chr19 38580382 rs193922879 G A . PASS PX=RYR1 GT 0/0 +chr19 38580397 . G C . PASS PX=RYR1 GT 0/0 chr19 38580403 rs118192168 G A . PASS PX=RYR1 GT 0/0 +chr19 38580416 . C T . PASS PX=RYR1 GT 0/0 +chr19 38580425 rs193922880 C G . PASS PX=RYR1 GT 0/0 +chr19 38580439 rs118192181 C T . PASS PX=RYR1 GT 0/0 chr19 38580440 rs63749869 G A . PASS PX=RYR1 GT 0/0 +chr19 38580485 rs113210953 A G . PASS PX=RYR1 GT 0/0 +chr19 38580497 rs193922883 T C . PASS PX=RYR1 GT 0/0 +chr19 38584974 rs118192151 G A . PASS PX=RYR1 GT 0/0 +chr19 38584976 rs193922888 G A . PASS PX=RYR1 GT 0/0 chr19 38584989 rs118192170 T C . PASS PX=RYR1 GT 0/0 +chr19 38585078 . A G . PASS PX=RYR1 GT 0/0 +chr19 38585099 . G A . PASS PX=RYR1 GT 0/0 +chr19 38585947 rs111657878 T C . PASS PX=RYR1 GT 0/0 +chr19 38585948 rs118192159 C G . PASS PX=RYR1 GT 0/0 +chr19 38585951 rs193922895 C A . PASS PX=RYR1 GT 0/0 +chr19 38585952 rs118192158 G A . PASS PX=RYR1 GT 0/0 +chr19 38585959 rs193922896 G T . PASS PX=RYR1 GT 0/0 +chr19 38586101 rs193922898 T A . PASS PX=RYR1 GT 0/0 +chr19 38586140 rs146876145 C T . PASS PX=RYR1 GT 0/0 +chr19 38586190 . A G . PASS PX=RYR1 GT 0/0 +chr19 38587362 . G C . PASS PX=RYR1 GT 0/0 +chr19 38587363 . G C . PASS PX=RYR1 GT 0/0 chr19 39248147 rs12979860 C T . PASS PX=IFNL3 GT 0/0 chr19 40991224 rs34223104 T C . PASS PX=CYP2B6 GT 0/0 chr19 40991367 rs34883432 A T . PASS PX=CYP2B6 GT 0/0 @@ -510,8 +779,11 @@ chr19 41016810 rs3211371 C A,T . PASS PX=CYP2B6 GT 0/0 chr22 42126578 rs1440526469 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126605 rs568495591 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126611 rs1135840 C G . PASS PX=CYP2D6 GT 0/0 +chr22 42126619 rs28371736 G A . PASS PX=CYP2D6 GT 0/0 +chr22 42126622 rs747998333 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126623 rs75467367 G C . PASS PX=CYP2D6 GT 0/0 chr22 42126624 rs74478221 C T . PASS PX=CYP2D6 GT 0/0 +chr22 42126625 . A G . PASS PX=CYP2D6 GT 0/0 chr22 42126627 . A C . PASS PX=CYP2D6 GT 0/0 chr22 42126633 . C G . PASS PX=CYP2D6 GT 0/0 chr22 42126634 . A C . PASS PX=CYP2D6 GT 0/0 @@ -519,8 +791,10 @@ chr22 42126635 rs766507177 T G . PASS PX=CYP2D6 GT 0/0 chr22 42126636 rs28371735 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126647 rs141756339 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126656 rs765776661 C CCAGTGGGCA . PASS PX=CYP2D6 GT 0/0 +chr22 42126658 rs1135836 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126660 rs1135835 T C . PASS PX=CYP2D6 GT 0/0 chr22 42126663 rs1135833 G C . PASS PX=CYP2D6 GT 0/0 +chr22 42126667 rs1135832 C G . PASS PX=CYP2D6 GT 0/0 chr22 42126681 . G C . PASS PX=CYP2D6 GT 0/0 chr22 42126697 . G T . PASS PX=CYP2D6 GT 0/0 chr22 42126715 rs760940331 C T . PASS PX=CYP2D6 GT 0/0 diff --git a/docs/phenotypes.tsv b/docs/phenotypes.tsv index 326ce5e5d..cf8ef5e87 100644 --- a/docs/phenotypes.tsv +++ b/docs/phenotypes.tsv @@ -15,7 +15,7 @@ G6PD 202G>A_376A>G_1264C>G;A;A- 202A_376G;A- 680T_376G;A- 968C_376G;Aachen;Abeno IFNL3 rs12979860 reference (C);rs12979860 variant (T) MT-RNR1 663A>G;669T>C;747A>G;786G>A;807A>C;807A>G;827A>G;839A>G;896A>G;930A>G;951G>A;960C>del;961T>G;961T>del;961T>del+Cn;988G>A;1095T>C;1189T>C;1243T>C;1494C>T;1520T>C;1537C>T;1555A>G;1556C>T;Reference increased risk of aminoglycoside-induced hearing loss;normal risk of aminoglycoside-induced hearing loss;uncertain risk of aminoglycoside-induced hearing loss NUDT15 *1;*2;*3;*4;*5;*6;*7;*8;*9;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*20 Indeterminate;Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer;Possible Intermediate Metabolizer Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer -RYR1 Reference;c.103T>C;c.130C>T;c.487C>T;c.488G>T;c.742G>A;c.742G>C;c.982C>T;c.1021G>A;c.1021G>C;c.1201C>T;c.1209C>G;c.1565A>C;c.1589G>A;c.1597C>T;c.1598G>A;c.1654C>T;c.1840C>T;c.1841G>T;c.6487C>T;c.6488G>A;c.6502G>A;c.6617C>G;c.6617C>T;c.7007G>A;c.7042_7044delGAG;c.7048G>A;c.7063C>T;c.7124G>C;c.7282G>A;c.7300G>A;c.7304G>A;c.7354C>T;c.7360C>T;c.7361G>A;c.7372C>T;c.7373G>A;c.7522C>G;c.7522C>T;c.7523G>A;c.9310G>A;c.11969G>T;c.14387A>G;c.14477C>T;c.14497C>T;c.14512C>G;c.14545G>A;c.14582G>A;c.14693T>C Malignant Hyperthermia Susceptibility;Uncertain Susceptibility +RYR1 Reference;c.38T>G;c.51_53del;c.97A>G;c.103T>C;c.119G>C;c.130C>T;c.131G>A;c.152C>A;c.178G>A;c.178G>T;c.190T>C;c.212C>A;c.251C>T;c.418G>A;c.455C>A;c.463C>A;c.467G>A;c.479A>G;c.487C>T;c.488G>A;c.488G>T;c.493G>A;c.496G>A;c.497A>G;c.526G>A;c.528G>T;c.529C>T;c.533A>C;c.533A>G;c.625G>A;c.641C>T;c.652G>A;c.677T>A;c.680A>T;c.742G>A;c.742G>C;c.946C>T;c.947G>T;c.982C>T;c.992_994dup;c.1021G>A;c.1021G>C;c.1024G>A;c.1100G>A;c.1100G>T;c.1144C>A;c.1201C>A;c.1201C>G;c.1201C>T;c.1202G>A;c.1202G>T;c.1209C>G;c.1411C>T;c.1422G>T;c.1453A>G;c.1459C>G;c.1460T>C;c.1475G>A;c.1553T>C;c.1565A>C;c.1565A>G;c.1589G>A;c.1597C>A;c.1597C>T;c.1598G>A;c.1615T>C;c.1615T>G;c.1630G>T;c.1654C>T;c.1834G>C;c.1840C>T;c.1841G>T;c.2050G>C;c.2122G>A;c.2447C>T;c.2537C>T;c.2654G>A;c.2797G>A;c.2924G>A;c.2996G>A;c.3095G>A;c.3127C>T;c.3166G>A;c.3166G>C;c.3172G>A;c.3224G>A;c.3418C>T;c.3527C>T;c.3656A>C;c.3667G>A;c.4024A>G;c.4178A>G;c.4400A>G;c.4711A>G;c.4747C>T;c.4763C>T;c.4775C>T;c.5024T>C;c.5033A>G;c.5036G>A;c.5132A>G;c.5183C>T;c.5186T>G;c.5317C>T;c.5341T>C;c.5360C>T;c.5440A>G;c.5441T>A;c.5890C>T;c.6037A>C;c.6178G>T;c.6302T>A;c.6304G>C;c.6349G>C;c.6377G>A;c.6387C>G;c.6388G>A;c.6478G>A;c.6487C>T;c.6488G>A;c.6488G>C;c.6488G>T;c.6502G>A;c.6544A>T;c.6548G>A;c.6599C>T;c.6612C>G;c.6617C>G;c.6617C>T;c.6628G>T;c.6635T>A;c.6640G>A;c.6670C>T;c.6671G>A;c.6710G>A;c.6742C>T;c.6743G>A;c.6757C>T;c.6838G>A;c.6847A>C;c.6961A>G;c.7007G>A;c.7018T>C;c.7025A>G;c.7032G>C;c.7035C>A;c.7036G>A;c.7042_7044delGAG;c.7043A>G;c.7048G>A;c.7060G>A;c.7063C>T;c.7073T>A;c.7075C>T;c.7076G>A;c.7084G>A;c.7085A>G;c.7089C>G;c.7090T>G;c.7097C>G;c.7099G>A;c.7112A>G;c.7123G>A;c.7124G>C;c.7199A>G;c.7210G>A;c.7282G>A;c.7291G>A;c.7291G>T;c.7292A>T;c.7300G>A;c.7304G>A;c.7304G>T;c.7307G>A;c.7310C>T;c.7317G>C;c.7354C>T;c.7355G>A;c.7355G>C;c.7358T>C;c.7360C>T;c.7361G>A;c.7372C>T;c.7373G>A;c.7373G>T;c.7385C>T;c.7487C>T;c.7522C>G;c.7522C>T;c.7523G>A;c.7528T>C;c.7760A>G;c.7771C>G;c.7771C>T;c.7777C>G;c.7778G>A;c.7787C>T;c.7816T>A;c.7879G>A;c.7879G>C;c.8005G>A;c.8026C>T;c.8054C>T;c.8188G>C;c.8189A>G;c.8198G>A;c.8290G>A;c.8327C>T;c.8360C>G;c.8518C>T;c.8527T>C;c.8600T>A;c.8638G>A;c.8654C>G;c.8729C>T;c.8926C>T;c.9152G>A;c.9268G>A;c.9310G>A;c.9356G>A;c.9499C>T;c.9635A>G;c.9649T>C;c.9652G>A;c.9676G>C;c.9758T>C;c.9797T>C;c.9848G>A;c.9850T>A;c.9868G>A;c.10042C>T;c.10043G>A;c.10097G>A;c.10100A>G;c.10229C>A;c.10237A>T;c.10252A>G;c.10556C>T;c.10616G>A;c.10747G>C;c.10750G>C;c.10891G>T;c.11086G>C;c.11120G>T;c.11126C>T;c.11132C>T;c.11266C>G;c.11314C>T;c.11315G>A;c.11416G>A;c.11518G>A;c.11708G>A;c.11723A>T;c.11748T>G;c.11798A>G;c.11813G>A;c.11947C>T;c.11953T>C;c.11958C>G;c.11969G>T;c.12028G>A;c.12064A>G;c.12115A>T;c.12121C>T;c.12149C>A;c.12242C>T;c.12310G>C;c.12355A>T;c.12383C>T;c.12398A>G;c.12406C>A;c.12413T>C;c.12532G>A;c.12533G>T;c.12553G>A;c.12689T>G;c.12700G>C;c.12700G>T;c.12848A>T;c.12881C>T;c.12884C>T;c.13505A>G;c.13513G>C;c.13672C>T;c.13673G>A;c.13702C>G;c.13760C>T;c.13913G>A;c.13918A>G;c.13934G>A;c.13990T>C;c.13994_13995delTCinsCT;c.14002C>T;c.14051T>C;c.14126C>T;c.14168G>A;c.14186A>C;c.14197T>G;c.14201G>A;c.14209C>T;c.14210G>A;c.14270G>A;c.14364+1G>T;c.14387A>G;c.14422_14423delinsAA;c.14424C>A;c.14449A>T;c.14458G>A;c.14458G>T;c.14471T>C;c.14477C>T;c.14497C>T;c.14509C>G;c.14512C>G;c.14524G>A;c.14539G>C;c.14545G>A;c.14558C>T;c.14567C>G;c.14581C>T;c.14582G>A;c.14627A>G;c.14639T>C;c.14678G>A;c.14680G>A;c.14693T>C;c.14782A>G;c.14803G>A;c.14813T>C;c.14814C>G;c.14817C>A;c.14818G>A;c.14825G>T;c.14879T>A;c.14918C>T;c.14968A>G;c.15059G>C;c.15060G>C Malignant Hyperthermia Susceptibility;Uncertain Susceptibility SLCO1B1 *1;*2;*3;*4;*5;*6;*7;*8;*9;*10;*11;*12;*13;*14;*15;*16;*19;*20;*23;*24;*25;*26;*27;*28;*29;*30;*31;*32;*33;*34;*36;*37;*38;*39;*40;*41;*42;*43;*44;*45;*46;*47 Decreased Function;Increased Function;Indeterminate;Normal Function;Poor Function;Possible Decreased Function Decreased Function;Normal Function;Poor Function TPMT *1;*2;*3A;*3B;*3C;*4;*5;*6;*7;*8;*9;*10;*11;*12;*13;*14;*15;*16;*17;*18;*19;*20;*21;*22;*23;*24;*25;*26;*27;*28;*29;*30;*31;*32;*33;*34;*35;*36;*37;*38;*39;*40;*41;*42;*43;*44 Indeterminate;Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer;Possible Intermediate Metabolizer Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer UGT1A1 *1;*6;*27;*28;*36;*37;*80;*80+*28;*80+*37 Indeterminate;Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer Intermediate Metabolizer;Normal Metabolizer;Poor Metabolizer diff --git a/pharmcat_positions.uniallelic.vcf.bgz b/pharmcat_positions.uniallelic.vcf.bgz index 473b4308cdaf9f32e92162e736671441c42a2b1f..5863f2d3940aa6f4403d98893d8695395e4663a0 100644 GIT binary patch literal 10265 zcmV+!DCXB6iwFb&00000{{{d;LjnMH0i~2tYr-%Tg`eZE2>M#3t-7f!gQ8XoYF*n6 zUu(V9K%0~#4*d5^TYS*LVB|5}`*F^_C(l&Kb`46@~g;z>@TS(=U#%-qJRSM33AG4O-kKV zt1VIm#I@aF-*NlSG_fbM@n|-l3`RqzuOGIp8#B%nJvR=ri*T%3r#u!nvWn)H;bc%b zLrYeWQIMp&<|W56ttc?rczL8+zZlW4Mzmv_;bwc&twy-n=A5b7moc0D@J~9} z`C*&3gSESsM-XISCASJltORA}#{jN?!4nn+cg}7(zet~`J(o=kG0$th0=nOi&JS}o9~zqk001A02m}BC000301^_}s0sw_3oSVyzWVa25*OiBvNE9hi zi!3T_xR6DXL8b!4Yj3i)-yiT#@^shqxmdITFM5pgwIqsns(=3fFZDJ@89H^`e)+Xl zF0;?6x5w>y`*Qnw|Mu+V_3(Wllk@rYQfA>#F>Jn zqzahlnid?ePXWIG!qJbI}(%6ggF+6y5d ziB;NknTgPZv=hrHwH|V=g}JnzW2T*^k2d<4n%LS@!FTUhGZL3+L>y)a3;vxD^VDAL zIz{?mZj{gfAo$L1vz8`B>}nReS!b)owuXyrv*E|3$bgU|R7zLuEg=DF42?7i%-I{4 zGS;SMj9-m(m``nWjkF>(T+o$9?^N1a&|q3`E&-_(DzG*iM|jhK+ROUU~fv9 zjX5#j2{og6TNCa9%+Wxb+wJ+ttkPX%<^dFr=AJl84a6N_uSq6?4IBXE2bIeRpz3xr 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zxiI7I241}4-1z~Ft9~3<@T>(>_eJ2u8_xY)&$w#cukkln3#P8-?e&}s%)Ip6o%HMl z(^u!2oRON_><81kvmyUXW#fHZ&nwM2!#GUtt#8zS%*K(a**j;9=63xi9FZAQD)g+U zy7gCKxj+r$YrVRho*Mf!JpcbxTVW1NzWZI+uR;yucL&a?I`?r9rQV z{`Fyh;eE&Po5LAbt^3hdWiHG(&8v;?r%}AF5oV1+zaA-k7E#0amm7u8BWf7`c$4sD zL=EG2j26C%sA2qrV}uVQt_NmqI?wEx)cEP?!X242`6gm*m_Fr6!nYAMjK6WR@Lfa= z>K6_&T5D`_NY8Zk?wP_RMQRxTON(%6ks8JyJ4?8%NDbq+ z%+7zOIzNs7m3gOm-y_W(IzRlEGGnfGGY2Mr^IYMzZfY1`>m@xdoZxSm*sA&Y>&V8D znNwY|)>6!N##K*i&#$Sq+SiBqXKR)@7N*XJmBRjIY8d~Y)xrT~Y8YSpH57WTNA;22^%YH?3unp;001A02m}C=qyrbaPuq|H diff --git a/pharmcat_positions.vcf b/pharmcat_positions.vcf index 7b977a100..08cd73341 100644 --- a/pharmcat_positions.vcf +++ b/pharmcat_positions.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##source=PharmCAT allele definitions -##fileDate=2023-09-27T19:48:25-07:00 +##fileDate=2023-12-19T08:54:58.431-08:00 ##contig= ##contig= ##contig= @@ -158,7 +158,7 @@ chr7 99665212 rs10264272 C T . PASS PX=CYP3A5 GT 0/0 chr7 99672916 rs776746 T C . PASS PX=CYP3A5 GT 0/0 chr7 99676198 rs55817950 G A . PASS PX=CYP3A5 GT 0/0 chr7 99758183 rs67666821 G GT . PASS PX=CYP3A4 GT 0/0 -chr7 99758228 . T A . PASS PX=CYP3A4 GT 0/0 +chr7 99758228 rs1584538410 T A . PASS PX=CYP3A4 GT 0/0 chr7 99760836 rs4986913 G A . PASS PX=CYP3A4 GT 0/0 chr7 99760901 rs4986910 A G . PASS PX=CYP3A4 GT 0/0 chr7 99760956 rs774109750 T C . PASS PX=CYP3A4 GT 0/0 @@ -415,50 +415,319 @@ chr19 15897466 rs201380574 C T . PASS PX=CYP4F2 GT 0/0 chr19 15897473 rs115517770 G A . PASS PX=CYP4F2 GT 0/0 chr19 15897566 rs114099324 C G . PASS PX=CYP4F2 GT 0/0 chr19 15897578 rs3093105 A C . PASS PX=CYP4F2 GT 0/0 +chr19 38433867 rs193922744 T G . PASS PX=RYR1 GT 0/0 +chr19 38440747 rs193922745 CGAT C . PASS PX=RYR1 GT 0/0 +chr19 38440796 rs193922746 A G . PASS PX=RYR1 GT 0/0 chr19 38440802 rs193922747 T C . PASS PX=RYR1 GT 0/0 +chr19 38440818 . G C . PASS PX=RYR1 GT 0/0 chr19 38440829 rs193922748 C T . PASS PX=RYR1 GT 0/0 +chr19 38440830 rs139161723 G A . PASS PX=RYR1 GT 0/0 +chr19 38440851 rs193922749 C A . PASS PX=RYR1 GT 0/0 +chr19 38442361 rs118192160 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38442373 rs995399438 T C . PASS PX=RYR1 GT 0/0 +chr19 38442395 rs118192113 C A . PASS PX=RYR1 GT 0/0 +chr19 38442434 rs186983396 C T . PASS PX=RYR1 GT 0/0 +chr19 38443790 rs142474192 G A . PASS PX=RYR1 GT 0/0 +chr19 38444179 . C A . PASS PX=RYR1 GT 0/0 +chr19 38444187 rs193922750 C A . PASS PX=RYR1 GT 0/0 +chr19 38444191 rs193922751 G A . PASS PX=RYR1 GT 0/0 +chr19 38444203 rs193922752 A G . PASS PX=RYR1 GT 0/0 chr19 38444211 rs118192161 C T . PASS PX=RYR1 GT 0/0 -chr19 38444212 rs193922753 G T . PASS PX=RYR1 GT 0/0 +chr19 38444212 rs193922753 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38444217 rs193922754 G A . PASS PX=RYR1 GT 0/0 +chr19 38444220 rs193922755 G A . PASS PX=RYR1 GT 0/0 +chr19 38444221 rs193922756 A G . PASS PX=RYR1 GT 0/0 +chr19 38444250 rs761616815 G A . PASS PX=RYR1 GT 0/0 +chr19 38444252 . G T . PASS PX=RYR1 GT 0/0 +chr19 38444253 rs193922757 C T . PASS PX=RYR1 GT 0/0 +chr19 38444257 . A C,G . PASS PX=RYR1 GT 0/0 +chr19 38444671 rs771058055 G A . PASS PX=RYR1 GT 0/0 +chr19 38446481 rs727504129 C T . PASS PX=RYR1 GT 0/0 +chr19 38446492 rs193922759 G A . PASS PX=RYR1 GT 0/0 +chr19 38446517 rs112596687 T A . PASS PX=RYR1 GT 0/0 +chr19 38446520 rs193922760 A T . PASS PX=RYR1 GT 0/0 chr19 38446710 rs1801086 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38448500 rs752652072 C T . PASS PX=RYR1 GT 0/0 +chr19 38448501 rs193922761 G T . PASS PX=RYR1 GT 0/0 chr19 38448673 rs193922762 C T . PASS PX=RYR1 GT 0/0 +chr19 38448680 . T TGGA . PASS PX=RYR1 GT 0/0 chr19 38448712 rs121918592 G A,C . PASS PX=RYR1 GT 0/0 -chr19 38451842 rs193922764 C T . PASS PX=RYR1 GT 0/0 +chr19 38448715 . G A . PASS PX=RYR1 GT 0/0 +chr19 38448791 rs113332073 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38451785 . C A . PASS PX=RYR1 GT 0/0 +chr19 38451842 rs193922764 C A,G,T . PASS PX=RYR1 GT 0/0 +chr19 38451843 rs193922766 G A,T . PASS PX=RYR1 GT 0/0 chr19 38451850 rs118192116 C G . PASS PX=RYR1 GT 0/0 -chr19 38455359 rs118192162 A C . PASS PX=RYR1 GT 0/0 +chr19 38452985 . C T . PASS PX=RYR1 GT 0/0 +chr19 38452996 rs193922767 G T . PASS PX=RYR1 GT 0/0 +chr19 38455247 rs147723844 A G . PASS PX=RYR1 GT 0/0 +chr19 38455253 . C G . PASS PX=RYR1 GT 0/0 +chr19 38455254 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455269 rs901087791 G A . PASS PX=RYR1 GT 0/0 +chr19 38455347 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455359 rs118192162 A C,G . PASS PX=RYR1 GT 0/0 chr19 38455463 rs111888148 G A . PASS PX=RYR1 GT 0/0 -chr19 38455471 rs193922768 C T . PASS PX=RYR1 GT 0/0 +chr19 38455471 rs193922768 C A,T . PASS PX=RYR1 GT 0/0 chr19 38455472 rs144336148 G A . PASS PX=RYR1 GT 0/0 +chr19 38455489 rs193922769 T C,G . PASS PX=RYR1 GT 0/0 +chr19 38455504 . G T . PASS PX=RYR1 GT 0/0 chr19 38455528 rs193922770 C T . PASS PX=RYR1 GT 0/0 +chr19 38457539 rs118204423 G C . PASS PX=RYR1 GT 0/0 chr19 38457545 rs118192172 C T . PASS PX=RYR1 GT 0/0 chr19 38457546 rs193922772 G T . PASS PX=RYR1 GT 0/0 +chr19 38458175 rs747177274 G C . PASS PX=RYR1 GT 0/0 +chr19 38458247 rs138874610 G A . PASS PX=RYR1 GT 0/0 +chr19 38460461 rs376149732 C T . PASS PX=RYR1 GT 0/0 +chr19 38460551 rs193922775 C T . PASS PX=RYR1 GT 0/0 +chr19 38463499 rs370634440 G A . PASS PX=RYR1 GT 0/0 +chr19 38464649 rs148623597 G A . PASS PX=RYR1 GT 0/0 +chr19 38466144 rs778241277 G A . PASS PX=RYR1 GT 0/0 +chr19 38466216 rs180714609 G A . PASS PX=RYR1 GT 0/0 +chr19 38466315 rs141942845 G A . PASS PX=RYR1 GT 0/0 +chr19 38466347 rs111272095 C T . PASS PX=RYR1 GT 0/0 +chr19 38466386 rs2145447772 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38466392 . G A . PASS PX=RYR1 GT 0/0 +chr19 38467655 rs749040743 G A . PASS PX=RYR1 GT 0/0 +chr19 38469002 rs193922776 C T . PASS PX=RYR1 GT 0/0 +chr19 38469111 rs549201486 C T . PASS PX=RYR1 GT 0/0 +chr19 38469404 . A C . PASS PX=RYR1 GT 0/0 +chr19 38469415 rs936513262 G A . PASS PX=RYR1 GT 0/0 +chr19 38473635 rs34694816 A G . PASS PX=RYR1 GT 0/0 +chr19 38475335 rs137933390 A G . PASS PX=RYR1 GT 0/0 +chr19 38477816 rs145573319 A G . PASS PX=RYR1 GT 0/0 +chr19 38483293 rs146429605 A G . PASS PX=RYR1 GT 0/0 +chr19 38483329 rs754476250 C T . PASS PX=RYR1 GT 0/0 +chr19 38483345 rs151029675 C T . PASS PX=RYR1 GT 0/0 +chr19 38483357 rs193922777 C T . PASS PX=RYR1 GT 0/0 +chr19 38485679 . T C . PASS PX=RYR1 GT 0/0 +chr19 38485688 rs781104539 A G . PASS PX=RYR1 GT 0/0 +chr19 38485691 rs146504767 G A . PASS PX=RYR1 GT 0/0 +chr19 38485787 rs754785770 A G . PASS PX=RYR1 GT 0/0 +chr19 38485838 rs193922781 C T . PASS PX=RYR1 GT 0/0 +chr19 38485841 rs193922782 T G . PASS PX=RYR1 GT 0/0 +chr19 38485972 rs192863857 C T . PASS PX=RYR1 GT 0/0 +chr19 38485996 rs372958050 T C . PASS PX=RYR1 GT 0/0 +chr19 38486015 rs34934920 C T . PASS PX=RYR1 GT 0/0 +chr19 38486095 . A G . PASS PX=RYR1 GT 0/0 +chr19 38486096 rs193922783 T A . PASS PX=RYR1 GT 0/0 +chr19 38490151 rs145801146 C T . PASS PX=RYR1 GT 0/0 +chr19 38490642 . A C . PASS PX=RYR1 GT 0/0 +chr19 38492540 rs35364374 G T . PASS PX=RYR1 GT 0/0 +chr19 38494379 rs746818096 T A . PASS PX=RYR1 GT 0/0 +chr19 38494381 rs770593660 G C . PASS PX=RYR1 GT 0/0 +chr19 38494426 rs193922788 G C . PASS PX=RYR1 GT 0/0 +chr19 38494454 . G A . PASS PX=RYR1 GT 0/0 +chr19 38494464 rs117886618 C G . PASS PX=RYR1 GT 0/0 +chr19 38494465 rs193922789 G A . PASS PX=RYR1 GT 0/0 +chr19 38494555 rs143398211 G A . PASS PX=RYR1 GT 0/0 chr19 38494564 rs118192175 C T . PASS PX=RYR1 GT 0/0 -chr19 38494565 rs118192163 G A . PASS PX=RYR1 GT 0/0 +chr19 38494565 rs118192163 G A,C,T . PASS PX=RYR1 GT 0/0 chr19 38494579 rs118192176 G A . PASS PX=RYR1 GT 0/0 +chr19 38494621 rs193922790 A T . PASS PX=RYR1 GT 0/0 +chr19 38494625 rs959170123 G A . PASS PX=RYR1 GT 0/0 +chr19 38496265 rs193922791 C T . PASS PX=RYR1 GT 0/0 +chr19 38496278 rs141646642 C G . PASS PX=RYR1 GT 0/0 chr19 38496283 rs118192177 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38496294 rs193922792 G T . PASS PX=RYR1 GT 0/0 +chr19 38496301 rs193922793 T A . PASS PX=RYR1 GT 0/0 +chr19 38496306 rs193922795 G A . PASS PX=RYR1 GT 0/0 +chr19 38496415 rs199870223 C T . PASS PX=RYR1 GT 0/0 +chr19 38496416 rs537994744 G A . PASS PX=RYR1 GT 0/0 +chr19 38496455 . G A . PASS PX=RYR1 GT 0/0 +chr19 38496487 rs763352221 C T . PASS PX=RYR1 GT 0/0 +chr19 38496488 rs140152019 G A . PASS PX=RYR1 GT 0/0 +chr19 38496502 rs917523269 C T . PASS PX=RYR1 GT 0/0 +chr19 38496901 rs193922797 G A . PASS PX=RYR1 GT 0/0 +chr19 38496910 rs118192121 A C . PASS PX=RYR1 GT 0/0 +chr19 38499177 rs34390345 A G . PASS PX=RYR1 GT 0/0 chr19 38499223 rs112563513 G A . PASS PX=RYR1 GT 0/0 +chr19 38499234 . T C . PASS PX=RYR1 GT 0/0 +chr19 38499241 rs147213895 A G . PASS PX=RYR1 GT 0/0 +chr19 38499639 rs193922798 G C . PASS PX=RYR1 GT 0/0 +chr19 38499642 . C A . PASS PX=RYR1 GT 0/0 +chr19 38499643 rs193922799 G A . PASS PX=RYR1 GT 0/0 chr19 38499644 rs121918596 TGGA T . PASS PX=RYR1 GT 0/0 +chr19 38499650 rs193922801 A G . PASS PX=RYR1 GT 0/0 chr19 38499655 rs193922802 G A . PASS PX=RYR1 GT 0/0 +chr19 38499667 . G A . PASS PX=RYR1 GT 0/0 chr19 38499670 rs193922803 C T . PASS PX=RYR1 GT 0/0 +chr19 38499680 . T A . PASS PX=RYR1 GT 0/0 +chr19 38499682 rs769482889 C T . PASS PX=RYR1 GT 0/0 +chr19 38499683 . G A . PASS PX=RYR1 GT 0/0 +chr19 38499691 rs762401851 G A . PASS PX=RYR1 GT 0/0 +chr19 38499692 rs193922804 A G . PASS PX=RYR1 GT 0/0 +chr19 38499696 . C G . PASS PX=RYR1 GT 0/0 +chr19 38499697 rs193922805 T G . PASS PX=RYR1 GT 0/0 +chr19 38499704 rs193922806 C G . PASS PX=RYR1 GT 0/0 +chr19 38499706 rs146306934 G A . PASS PX=RYR1 GT 0/0 +chr19 38499719 . A G . PASS PX=RYR1 GT 0/0 +chr19 38499730 . G A . PASS PX=RYR1 GT 0/0 chr19 38499731 rs193922807 G C . PASS PX=RYR1 GT 0/0 +chr19 38499806 rs976108591 A G . PASS PX=RYR1 GT 0/0 +chr19 38499817 rs111364296 G A . PASS PX=RYR1 GT 0/0 chr19 38499975 rs193922809 G A . PASS PX=RYR1 GT 0/0 +chr19 38499984 rs193922810 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38499985 . A T . PASS PX=RYR1 GT 0/0 chr19 38499993 rs121918593 G A . PASS PX=RYR1 GT 0/0 -chr19 38499997 rs28933396 G A . PASS PX=RYR1 GT 0/0 +chr19 38499997 rs28933396 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500000 . G A . PASS PX=RYR1 GT 0/0 +chr19 38500003 rs193922812 C T . PASS PX=RYR1 GT 0/0 +chr19 38500010 rs193922813 G C . PASS PX=RYR1 GT 0/0 chr19 38500636 rs118192124 C T . PASS PX=RYR1 GT 0/0 +chr19 38500637 rs193922815 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38500640 rs118192123 T C . PASS PX=RYR1 GT 0/0 chr19 38500642 rs193922816 C T . PASS PX=RYR1 GT 0/0 chr19 38500643 rs118192122 G A . PASS PX=RYR1 GT 0/0 chr19 38500654 rs28933397 C T . PASS PX=RYR1 GT 0/0 -chr19 38500655 rs121918594 G A . PASS PX=RYR1 GT 0/0 +chr19 38500655 rs121918594 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500667 rs551223467 C T . PASS PX=RYR1 GT 0/0 +chr19 38500863 rs193922817 C T . PASS PX=RYR1 GT 0/0 chr19 38500898 rs118192178 C G,T . PASS PX=RYR1 GT 0/0 chr19 38500899 rs193922818 G A . PASS PX=RYR1 GT 0/0 +chr19 38500904 rs193922819 T C . PASS PX=RYR1 GT 0/0 +chr19 38502652 rs767553612 A G . PASS PX=RYR1 GT 0/0 +chr19 38502663 rs193922822 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38502669 . C G . PASS PX=RYR1 GT 0/0 +chr19 38502670 rs751180702 G A . PASS PX=RYR1 GT 0/0 +chr19 38502679 rs193922824 C T . PASS PX=RYR1 GT 0/0 +chr19 38502708 rs748575133 T A . PASS PX=RYR1 GT 0/0 +chr19 38502923 rs914804033 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38504298 . G A . PASS PX=RYR1 GT 0/0 +chr19 38504319 rs193922826 C T . PASS PX=RYR1 GT 0/0 +chr19 38504347 rs781126470 C T . PASS PX=RYR1 GT 0/0 +chr19 38504868 rs193922827 G C . PASS PX=RYR1 GT 0/0 +chr19 38504869 rs112196644 A G . PASS PX=RYR1 GT 0/0 +chr19 38504878 rs193922828 G A . PASS PX=RYR1 GT 0/0 +chr19 38505061 rs193922829 G A . PASS PX=RYR1 GT 0/0 +chr19 38505325 rs147707463 C T . PASS PX=RYR1 GT 0/0 +chr19 38505358 rs35180584 C G . PASS PX=RYR1 GT 0/0 +chr19 38505923 rs193922830 C T . PASS PX=RYR1 GT 0/0 +chr19 38505932 rs768535909 T C . PASS PX=RYR1 GT 0/0 +chr19 38506361 rs193922831 T A . PASS PX=RYR1 GT 0/0 +chr19 38506492 rs112772310 G A . PASS PX=RYR1 GT 0/0 +chr19 38506508 . C G . PASS PX=RYR1 GT 0/0 +chr19 38506865 . C T . PASS PX=RYR1 GT 0/0 +chr19 38507821 . C T . PASS PX=RYR1 GT 0/0 +chr19 38511590 rs147303895 G A . PASS PX=RYR1 GT 0/0 +chr19 38512279 . G A . PASS PX=RYR1 GT 0/0 chr19 38512321 rs193922832 G A . PASS PX=RYR1 GT 0/0 +chr19 38512367 rs193922833 G A . PASS PX=RYR1 GT 0/0 +chr19 38515052 . C T . PASS PX=RYR1 GT 0/0 +chr19 38516167 rs199738299 A G . PASS PX=RYR1 GT 0/0 +chr19 38516181 . T C . PASS PX=RYR1 GT 0/0 +chr19 38516184 rs553055844 G A . PASS PX=RYR1 GT 0/0 +chr19 38516208 . G C . PASS PX=RYR1 GT 0/0 +chr19 38517431 rs375626634 T C . PASS PX=RYR1 GT 0/0 +chr19 38517470 . T C . PASS PX=RYR1 GT 0/0 +chr19 38517521 rs757753317 G A . PASS PX=RYR1 GT 0/0 +chr19 38517523 . T A . PASS PX=RYR1 GT 0/0 +chr19 38517541 rs112151058 G A . PASS PX=RYR1 GT 0/0 +chr19 38519237 rs118204421 C T . PASS PX=RYR1 GT 0/0 +chr19 38519238 rs193922834 G A . PASS PX=RYR1 GT 0/0 +chr19 38519292 rs137932199 G A . PASS PX=RYR1 GT 0/0 +chr19 38519295 rs118192126 A G . PASS PX=RYR1 GT 0/0 +chr19 38519424 . C A . PASS PX=RYR1 GT 0/0 +chr19 38519432 . A T . PASS PX=RYR1 GT 0/0 +chr19 38519447 . A G . PASS PX=RYR1 GT 0/0 +chr19 38525432 . C T . PASS PX=RYR1 GT 0/0 +chr19 38525492 rs143987857 G A . PASS PX=RYR1 GT 0/0 +chr19 38527707 rs55876273 G C . PASS PX=RYR1 GT 0/0 +chr19 38527710 . G C . PASS PX=RYR1 GT 0/0 +chr19 38528372 . G T . PASS PX=RYR1 GT 0/0 +chr19 38529002 . G C . PASS PX=RYR1 GT 0/0 +chr19 38529036 rs193922838 G T . PASS PX=RYR1 GT 0/0 +chr19 38529042 . C T . PASS PX=RYR1 GT 0/0 +chr19 38529048 rs375915752 C T . PASS PX=RYR1 GT 0/0 +chr19 38534726 rs4802584 C G . PASS PX=RYR1 GT 0/0 +chr19 38534774 rs763112609 C T . PASS PX=RYR1 GT 0/0 +chr19 38534775 rs193922839 G A . PASS PX=RYR1 GT 0/0 +chr19 38535197 rs111565359 G A . PASS PX=RYR1 GT 0/0 +chr19 38535998 rs140616359 G A . PASS PX=RYR1 GT 0/0 +chr19 38543365 rs148399313 G A . PASS PX=RYR1 GT 0/0 +chr19 38543380 . A T . PASS PX=RYR1 GT 0/0 +chr19 38543405 rs193922840 T G . PASS PX=RYR1 GT 0/0 +chr19 38543551 rs147136339 A G . PASS PX=RYR1 GT 0/0 +chr19 38543566 . G A . PASS PX=RYR1 GT 0/0 +chr19 38543810 . C T . PASS PX=RYR1 GT 0/0 +chr19 38543816 rs118204422 T C . PASS PX=RYR1 GT 0/0 +chr19 38543821 rs193922842 C G . PASS PX=RYR1 GT 0/0 chr19 38543832 rs193922843 G T . PASS PX=RYR1 GT 0/0 +chr19 38546460 rs755088027 G A . PASS PX=RYR1 GT 0/0 +chr19 38546496 rs773040531 A G . PASS PX=RYR1 GT 0/0 +chr19 38548253 . A T . PASS PX=RYR1 GT 0/0 +chr19 38548259 rs144685735 C T . PASS PX=RYR1 GT 0/0 +chr19 38548287 rs193922844 C A . PASS PX=RYR1 GT 0/0 +chr19 38548380 rs373406011 C T . PASS PX=RYR1 GT 0/0 +chr19 38561140 . G C . PASS PX=RYR1 GT 0/0 +chr19 38561185 rs193922848 A T . PASS PX=RYR1 GT 0/0 +chr19 38561213 . C T . PASS PX=RYR1 GT 0/0 +chr19 38561228 rs201321695 A G . PASS PX=RYR1 GT 0/0 +chr19 38561236 rs193922849 C A . PASS PX=RYR1 GT 0/0 +chr19 38561243 rs193922850 T C . PASS PX=RYR1 GT 0/0 +chr19 38561362 . G A . PASS PX=RYR1 GT 0/0 +chr19 38561363 . G T . PASS PX=RYR1 GT 0/0 +chr19 38561383 rs151119428 G A . PASS PX=RYR1 GT 0/0 +chr19 38565023 . T G . PASS PX=RYR1 GT 0/0 +chr19 38565034 rs193922852 G C,T . PASS PX=RYR1 GT 0/0 +chr19 38565182 rs193922853 A T . PASS PX=RYR1 GT 0/0 +chr19 38565215 rs587784372 C T . PASS PX=RYR1 GT 0/0 +chr19 38565218 rs193922855 C T . PASS PX=RYR1 GT 0/0 +chr19 38566978 rs139647387 A G . PASS PX=RYR1 GT 0/0 +chr19 38566986 rs150396398 G C . PASS PX=RYR1 GT 0/0 +chr19 38570619 rs771741606 C T . PASS PX=RYR1 GT 0/0 +chr19 38570620 rs118192130 G A . PASS PX=RYR1 GT 0/0 +chr19 38570649 . C G . PASS PX=RYR1 GT 0/0 +chr19 38572032 rs143520367 C T . PASS PX=RYR1 GT 0/0 +chr19 38572185 rs118192135 G A . PASS PX=RYR1 GT 0/0 +chr19 38572190 rs756850145 A G . PASS PX=RYR1 GT 0/0 +chr19 38572206 rs193922860 G A . PASS PX=RYR1 GT 0/0 +chr19 38572262 rs759500310 T C . PASS PX=RYR1 GT 0/0 +chr19 38572266 rs193922862 TC CT . PASS PX=RYR1 GT 0/0 +chr19 38573180 rs193922863 C T . PASS PX=RYR1 GT 0/0 +chr19 38573229 rs193922864 T C . PASS PX=RYR1 GT 0/0 +chr19 38573304 rs118192140 C T . PASS PX=RYR1 GT 0/0 +chr19 38575957 rs200766617 G A . PASS PX=RYR1 GT 0/0 +chr19 38577931 . A C . PASS PX=RYR1 GT 0/0 +chr19 38577942 rs193922865 T G . PASS PX=RYR1 GT 0/0 +chr19 38577946 rs193922866 G A . PASS PX=RYR1 GT 0/0 +chr19 38577954 rs193922867 C T . PASS PX=RYR1 GT 0/0 +chr19 38577955 rs193922868 G A . PASS PX=RYR1 GT 0/0 +chr19 38578015 rs768360593 G A . PASS PX=RYR1 GT 0/0 +chr19 38578205 . G T . PASS PX=RYR1 GT 0/0 chr19 38580004 rs118192167 A G . PASS PX=RYR1 GT 0/0 +chr19 38580039 . TT AA . PASS PX=RYR1 GT 0/0 +chr19 38580041 . C A . PASS PX=RYR1 GT 0/0 +chr19 38580066 rs143988412 A T . PASS PX=RYR1 GT 0/0 +chr19 38580075 rs193922873 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38580088 rs193922874 T C . PASS PX=RYR1 GT 0/0 chr19 38580094 rs121918595 C T . PASS PX=RYR1 GT 0/0 chr19 38580114 rs193922876 C T . PASS PX=RYR1 GT 0/0 +chr19 38580126 . C G . PASS PX=RYR1 GT 0/0 chr19 38580370 rs193922878 C G . PASS PX=RYR1 GT 0/0 +chr19 38580382 rs193922879 G A . PASS PX=RYR1 GT 0/0 +chr19 38580397 . G C . PASS PX=RYR1 GT 0/0 chr19 38580403 rs118192168 G A . PASS PX=RYR1 GT 0/0 +chr19 38580416 . C T . PASS PX=RYR1 GT 0/0 +chr19 38580425 rs193922880 C G . PASS PX=RYR1 GT 0/0 +chr19 38580439 rs118192181 C T . PASS PX=RYR1 GT 0/0 chr19 38580440 rs63749869 G A . PASS PX=RYR1 GT 0/0 +chr19 38580485 rs113210953 A G . PASS PX=RYR1 GT 0/0 +chr19 38580497 rs193922883 T C . PASS PX=RYR1 GT 0/0 +chr19 38584974 rs118192151 G A . PASS PX=RYR1 GT 0/0 +chr19 38584976 rs193922888 G A . PASS PX=RYR1 GT 0/0 chr19 38584989 rs118192170 T C . PASS PX=RYR1 GT 0/0 +chr19 38585078 . A G . PASS PX=RYR1 GT 0/0 +chr19 38585099 . G A . PASS PX=RYR1 GT 0/0 +chr19 38585947 rs111657878 T C . PASS PX=RYR1 GT 0/0 +chr19 38585948 rs118192159 C G . PASS PX=RYR1 GT 0/0 +chr19 38585951 rs193922895 C A . PASS PX=RYR1 GT 0/0 +chr19 38585952 rs118192158 G A . PASS PX=RYR1 GT 0/0 +chr19 38585959 rs193922896 G T . PASS PX=RYR1 GT 0/0 +chr19 38586101 rs193922898 T A . PASS PX=RYR1 GT 0/0 +chr19 38586140 rs146876145 C T . PASS PX=RYR1 GT 0/0 +chr19 38586190 . A G . PASS PX=RYR1 GT 0/0 +chr19 38587362 . G C . PASS PX=RYR1 GT 0/0 +chr19 38587363 . G C . PASS PX=RYR1 GT 0/0 chr19 39248147 rs12979860 C T . PASS PX=IFNL3 GT 0/0 chr19 40991224 rs34223104 T C . PASS PX=CYP2B6 GT 0/0 chr19 40991367 rs34883432 A T . PASS PX=CYP2B6 GT 0/0 @@ -510,8 +779,11 @@ chr19 41016810 rs3211371 C A,T . PASS PX=CYP2B6 GT 0/0 chr22 42126578 rs1440526469 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126605 rs568495591 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126611 rs1135840 C G . PASS PX=CYP2D6 GT 0/0 +chr22 42126619 rs28371736 G A . PASS PX=CYP2D6 GT 0/0 +chr22 42126622 rs747998333 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126623 rs75467367 G C . PASS PX=CYP2D6 GT 0/0 chr22 42126624 rs74478221 C T . PASS PX=CYP2D6 GT 0/0 +chr22 42126625 . A G . PASS PX=CYP2D6 GT 0/0 chr22 42126627 . A C . PASS PX=CYP2D6 GT 0/0 chr22 42126633 . C G . PASS PX=CYP2D6 GT 0/0 chr22 42126634 . A C . PASS PX=CYP2D6 GT 0/0 @@ -519,8 +791,10 @@ chr22 42126635 rs766507177 T G . PASS PX=CYP2D6 GT 0/0 chr22 42126636 rs28371735 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126647 rs141756339 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126656 rs765776661 C CCAGTGGGCA . PASS PX=CYP2D6 GT 0/0 +chr22 42126658 rs1135836 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126660 rs1135835 T C . PASS PX=CYP2D6 GT 0/0 chr22 42126663 rs1135833 G C . PASS PX=CYP2D6 GT 0/0 +chr22 42126667 rs1135832 C G . PASS PX=CYP2D6 GT 0/0 chr22 42126681 . G C . PASS PX=CYP2D6 GT 0/0 chr22 42126697 . G T . PASS PX=CYP2D6 GT 0/0 chr22 42126715 rs760940331 C T . 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zZK=*J-px469j+?`0&N>zWU7Gkxur2gM!{CChWZ1eWxwl|eANAYEcvtU; zsJ73d821@^ZEj1`R1vXg9})>|pK%F$!tY)SDRz02(x1(>ql(R7qvFze7ZM|}X~pYI zJbRFYJ8_p*Tq~e9svj;>!nS#-B<=fIN&E?8mjEIY>FUF>yC}o1$*5%6pN-F*VpF2g z(fxUAIxhX`%(eiau&(^w$3*-08L(?~>3lgo6&o}Kff>4ybLEG`u?1^WEP0ki1(LgU zBTwU#hc6E2)1@at?0u=2Ro))N5M` zBzv?BW`DdPw#~qj!D9cn#$xt!V+J(N|LxbV_J_CQZ3cYhVWM`I%I&MifVC@n2GVwQ z3>DkIi_3FZ6P49x)OSHP%~bI~YUW}Mt(!@ZvD$}gKMtp3D}Ez(moYzg#%edtB?g99 zX9b$5>CN<(jMNPwiXneugZ~$PNP%#hssI2ViwFb&00000{{{d;LjnLB00RI300000 G0002|H5exV diff --git a/pharmcat_positions.vcf.bgz.csi b/pharmcat_positions.vcf.bgz.csi index a9e5f9b3c93ae3fd095bd03d4e7e2077de82399f..e0e057a349d45c50611bfe2d3cd11f559503497a 100644 GIT binary patch delta 943 zcmV;g15o^m2fYV>ABzYC000000RIL6LPG)opaXT4*^3lc6vpqD$Rs*uqBBk)dC?>f zCL|#fW3#RYpz`w6Mch;;|t>4%9>+A*7SL-%b2M9*xFOwZ4&tkK#PBZa?Y z)+Fzd7~eVsmu6E>TB4En|x;nSEJ#*h9IK8vYg z{GPGG=P@;m-!@M8BBqA%myZ`djCnsW_on;IK9icink?*emB;Ity9aT|{JKC5@=<|5{*2bK!EBWf5Q%Y~gu-qFrnwf53r5G3FR^uC?}D(6R`%&bgZSS{q-T;tPSv7!^2wKfX3?-J3~nQqvR_Up+CmCV-|J0+%9GLvwfjx`VFn;e5!lsgQ=f^RwIx}9lq(lwlzYm*lE>Xky z$0iE<7TF7?@6D0Ix*|1v8#5;cr}WQwpg zj-SkbFs@qP$BGhjVdiOGa-4pM;&aH;;Um|K4zh##2 zYeWs>@0=}s8*x7{d((BMze$bHZ4~ZvmE(KF+Aw|onm@zzUFC0>*q^}kn$q#~xtg4DxAM*n z-oUu(<_*w8Py(eeVH7tFJ3J1tDV({%iTs~pMqKKv2mFu7|A!V!A", + "cpicAlleles": [ + "A", + "G", + "R" + ], + "cpicToVcfAlleleMap": { + "A": "A", + "G": "G" + }, + "ref": "G", + "alts": [ + "A" + ] + }, + { + "chromosome": "chr22", + "position": 42126622, + "cpicPosition": 42126622, + "rsid": "rs747998333", + "chromosomeHgvsName": "g.42126622A>G", + "cpicAlleles": [ + "A", + "G", + "R" + ], + "cpicToVcfAlleleMap": { + "A": "A", + "G": "G" + }, + "ref": "A", + "alts": [ + "G" + ] + }, { "chromosome": "chr22", "position": 42126623, @@ -107,6 +147,26 @@ "T" ] }, + { + "chromosome": "chr22", + "position": 42126625, + "cpicPosition": 42126625, + "rsid": null, + "chromosomeHgvsName": "g.42126625A>G", + "cpicAlleles": [ + "A", + "G", + "R" + ], + "cpicToVcfAlleleMap": { + "A": "A", + "G": "G" + }, + "ref": "A", + "alts": [ + "G" + ] + }, { "chromosome": "chr22", "position": 42126627, @@ -244,6 +304,26 @@ "CCAGTGGGCA" ] }, + { + "chromosome": "chr22", + "position": 42126658, + "cpicPosition": 42126658, + "rsid": "rs1135836", + "chromosomeHgvsName": "g.42126658A>G", + "cpicAlleles": [ + "A", + "G", + "R" + ], + "cpicToVcfAlleleMap": { + "A": "A", + "G": "G" + }, + "ref": "A", + "alts": [ + "G" + ] + }, { "chromosome": "chr22", "position": 42126660, @@ -284,6 +364,26 @@ "C" ] }, + { + "chromosome": "chr22", + "position": 42126667, + "cpicPosition": 42126667, + "rsid": "rs1135832", + "chromosomeHgvsName": "g.42126667C>G", + "cpicAlleles": [ + "C", + "G", + "S" + ], + "cpicToVcfAlleleMap": { + "C": "C", + "G": "G" + }, + "ref": "C", + "alts": [ + "G" + ] + }, { "chromosome": "chr22", "position": 42126681, @@ -2789,16 +2889,21 @@ "G", "C", "G", + "A", + "G", "C", "A", + "A", "C", "A", "T", "G", "C", "C", + "A", "T", "G", + "C", "G", "G", "C", @@ -2935,16 +3040,21 @@ "G", "C", "G", + "A", + "G", "C", "A", + "A", "C", "A", "T", "G", "C", "AGTGGGCAC", + "A", "T", "G", + "C", "G", "G", "C", @@ -3143,6 +3253,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -3289,6 +3404,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -3455,6 +3575,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -3601,6 +3726,11 @@ null, null, null, + null, + null, + null, + null, + null, "delT", null, null, @@ -3688,8 +3818,11 @@ null, null, "S", + "R", + "R", "S", "Y", + "R", "M", "S", null, @@ -3697,8 +3830,10 @@ "R", null, null, + "R", "Y", "S", + "S", null, null, null, @@ -3834,8 +3969,11 @@ null, null, "S", + "R", + "R", "S", "Y", + "R", "M", "S", null, @@ -3843,8 +3981,10 @@ "R", null, null, + "R", "Y", "S", + "S", null, null, null, @@ -4087,6 +4227,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -4233,6 +4378,11 @@ null, null, null, + null, + null, + null, + null, + null, "delA", null, null, @@ -4339,6 +4489,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -4485,6 +4640,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -4643,6 +4803,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -4789,6 +4954,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -4946,6 +5116,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -5092,6 +5267,11 @@ null, null, null, + null, + null, + null, + null, + null, "delTCT", null, null, @@ -5291,6 +5471,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -5437,6 +5622,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -5543,6 +5733,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -5689,6 +5884,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -5843,6 +6043,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -5989,6 +6194,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -6143,6 +6353,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -6289,6 +6504,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -6517,6 +6737,11 @@ null, null, null, + null, + null, + null, + null, + null, "CA", null, null, @@ -6663,6 +6888,11 @@ null, null, null, + null, + null, + null, + null, + null, "AA", null, null, @@ -6743,6 +6973,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -6889,6 +7124,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -6996,6 +7236,9 @@ null, null, null, + null, + null, + null, "CCAGTGGGCA", null, null, @@ -7128,6 +7371,8 @@ null, null, null, + null, + null, null ], "cpicAlleles": [ @@ -7142,6 +7387,9 @@ null, null, null, + null, + null, + null, "AGTGGGCACAGTGGGCAC", null, null, @@ -7274,6 +7522,8 @@ null, null, null, + null, + null, null ], "populationFrequency": null, @@ -7343,6 +7593,11 @@ null, null, null, + null, + null, + null, + null, + null, "R", null, null, @@ -7489,6 +7744,11 @@ null, null, null, + null, + null, + null, + null, + null, "R", null, null, @@ -7643,6 +7903,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -7789,6 +8054,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -7943,6 +8213,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8089,6 +8364,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8322,6 +8602,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8468,6 +8753,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8613,6 +8903,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8759,6 +9054,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -8842,6 +9142,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -8988,6 +9293,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -9127,6 +9437,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -9273,6 +9588,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -9419,6 +9739,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -9565,6 +9890,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -9712,6 +10042,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -9858,6 +10193,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -10043,6 +10383,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -10189,6 +10534,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -10330,6 +10680,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -10476,6 +10831,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -10643,6 +11003,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -10789,6 +11154,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -10906,6 +11276,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -11052,6 +11427,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -11212,6 +11592,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -11358,6 +11743,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -11558,6 +11948,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -11704,6 +12099,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -11843,6 +12243,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -11989,6 +12394,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -12143,6 +12553,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -12289,6 +12704,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -12388,8 +12808,11 @@ null, null, "G", + "A", + "G", "C", "T", + "G", "C", "G", null, @@ -12397,8 +12820,10 @@ "A", null, null, + "G", "C", "C", + "G", null, null, null, @@ -12534,8 +12959,11 @@ null, null, "G", + "A", + "G", "C", "T", + "G", "C", "G", null, @@ -12543,8 +12971,10 @@ "A", null, null, + "G", "C", "C", + "G", null, null, null, @@ -12770,6 +13200,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -12916,6 +13351,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -13049,6 +13489,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -13195,6 +13640,11 @@ null, null, null, + null, + null, + null, + null, + null, "TCAG(1)", null, null, @@ -13391,6 +13841,11 @@ null, null, null, + null, + null, + null, + null, + null, "S", null, null, @@ -13537,6 +13992,11 @@ null, null, null, + null, + null, + null, + null, + null, "S", null, null, @@ -13643,6 +14103,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -13789,6 +14254,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -13935,6 +14405,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -14081,6 +14556,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -14222,6 +14702,11 @@ null, null, null, + null, + null, + null, + null, + null, "GCA", null, null, @@ -14368,6 +14853,11 @@ null, null, null, + null, + null, + null, + null, + null, "ACAC", null, null, @@ -14623,6 +15113,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -14769,6 +15264,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -14836,6 +15336,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -14982,6 +15487,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -15143,6 +15653,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -15289,6 +15804,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -15443,6 +15963,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -15589,6 +16114,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -15791,7 +16321,12 @@ null, null, null, - "G", + null, + null, + null, + null, + null, + "G", null, null, null, @@ -15937,6 +16472,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -16111,6 +16651,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -16257,6 +16802,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -16391,6 +16941,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -16537,6 +17092,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -16685,6 +17245,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -16831,6 +17396,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -16933,6 +17503,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -17079,6 +17654,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -17210,6 +17790,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -17356,6 +17941,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -17597,6 +18187,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", "T", null, @@ -17743,6 +18338,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", "T", null, @@ -17854,6 +18454,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -18000,6 +18605,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -18113,6 +18723,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -18259,6 +18874,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -18426,6 +19046,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -18572,6 +19197,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -18743,6 +19373,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -18889,6 +19524,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -19038,6 +19678,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -19184,6 +19829,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -19374,6 +20024,11 @@ null, null, null, + null, + null, + null, + null, + null, "TTA", null, null, @@ -19520,6 +20175,11 @@ null, null, null, + null, + null, + null, + null, + null, "insTA", null, null, @@ -19605,6 +20265,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -19751,6 +20416,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -19991,6 +20661,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -20137,6 +20812,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -20243,6 +20923,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -20389,6 +21074,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -20535,6 +21225,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -20681,6 +21376,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -20830,6 +21530,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -20976,6 +21681,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -21218,6 +21928,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -21364,6 +22079,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -21417,6 +22137,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -21563,6 +22288,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -21743,6 +22473,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -21889,6 +22624,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -22110,6 +22850,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -22256,6 +23001,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -22304,6 +23054,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -22450,6 +23205,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -22647,6 +23407,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", "T", null, @@ -22793,28 +23558,33 @@ null, null, null, - "T", - "T", - null, - null, - null, - "A", - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, - null, + null, + null, 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null, + null, + null, "C", null, null, @@ -23843,6 +24646,8 @@ null, null, null, + null, + null, "A", null, null, @@ -23938,6 +24743,9 @@ null, null, null, + null, + null, + null, "C", null, null, @@ -23989,6 +24797,8 @@ null, null, null, + null, + null, "A", null, null, @@ -24147,6 +24957,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", "T", null, @@ -24293,6 +25108,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", "T", null, @@ -24491,6 +25311,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -24637,6 +25462,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -24791,6 +25621,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -24937,6 +25772,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -25090,6 +25930,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -25236,6 +26081,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -25389,6 +26239,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -25535,6 +26390,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -25635,6 +26495,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -25781,6 +26646,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -25964,6 +26834,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -26110,6 +26985,11 @@ null, null, null, + null, + null, + null, + null, + null, "delG", null, null, @@ -26257,6 +27137,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -26403,6 +27288,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -26531,6 +27421,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -26677,6 +27572,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -26816,6 +27716,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -26962,6 +27867,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -27109,6 +28019,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -27255,6 +28170,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -27400,6 +28320,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -27546,6 +28471,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -27699,6 +28629,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -27845,6 +28780,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -28091,6 +29031,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -28237,6 +29182,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -28344,6 +29294,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -28490,6 +29445,11 @@ null, null, null, + null, + null, + null, + null, + null, "delG", null, null, @@ -28637,6 +29597,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -28783,6 +29748,11 @@ null, null, null, + null, + null, + null, + null, + null, "delCACATCCGGATGTAGGATC", null, null, @@ -28943,6 +29913,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29089,6 +30064,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29243,6 +30223,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29389,6 +30374,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29543,6 +30533,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29689,6 +30684,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -29820,6 +30820,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -29966,6 +30971,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -30110,6 +31120,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -30256,6 +31271,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -30492,6 +31512,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -30638,6 +31663,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -30723,6 +31753,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", "C", null, @@ -30869,6 +31904,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", "C", null, @@ -31030,6 +32070,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ 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null, + null, "T", null, null, @@ -34181,6 +35326,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -34425,6 +35575,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -34571,6 +35726,11 @@ null, null, null, + null, + null, + null, + null, + null, "delG", null, null, @@ -34643,6 +35803,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -34789,6 +35954,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -34918,6 +36088,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -35064,6 +36239,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -35235,6 +36415,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -35381,6 +36566,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -35515,6 +36705,11 @@ null, null, null, + null, + null, + null, 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null, + null, + null, "A", null, null, @@ -37189,6 +38434,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -37372,6 +38622,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", "G", null, @@ -37518,6 +38773,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", "G", null, @@ -37660,6 +38920,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -37806,6 +39071,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -37945,6 +39215,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -38091,6 +39366,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -38228,6 +39508,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -38374,6 +39659,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -38525,6 +39815,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -38671,6 +39966,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -38811,6 +40111,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -38957,6 +40262,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -39108,6 +40418,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -39254,6 +40569,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -39528,6 +40848,11 @@ null, null, null, + null, + null, + null, + null, + null, null ], "cpicAlleles": [ @@ -39674,6 +40999,11 @@ null, null, null, + null, + null, + null, + null, + null, null ], "populationFrequency": null, @@ -39695,6 +41025,9 @@ null, null, null, + null, + null, + null, "T", null, null, @@ -39735,6 +41068,8 @@ null, null, null, + null, + null, "T", null, null, @@ -39841,6 +41176,9 @@ null, null, null, + null, + null, + null, "T", null, null, @@ -39881,6 +41219,8 @@ null, null, null, + null, + null, "T", null, null, @@ -40021,6 +41361,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -40167,6 +41512,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -40361,6 +41711,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -40507,6 +41862,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -40588,8 +41948,11 @@ null, null, "G", + "A", + "G", "C", "T", + "G", "C", "G", null, @@ -40597,8 +41960,10 @@ "A", null, null, + "G", "C", "C", + "G", null, null, null, @@ -40734,8 +42099,11 @@ null, null, "G", + "A", + "G", "C", "T", + "G", "C", "G", null, @@ -40743,8 +42111,10 @@ "A", null, null, + "G", "C", "C", + "G", null, null, null, @@ -40991,6 +42361,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -41137,6 +42512,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -41296,6 +42676,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -41442,6 +42827,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -41563,6 +42953,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -41709,6 +43104,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -41876,6 +43276,11 @@ null, null, null, + null, + null, + null, + null, + null, "TGGGGCGAAA", null, null, @@ -42022,6 +43427,11 @@ null, null, null, + null, + null, + null, + null, + null, "AAAGGGGCG(2)", null, null, @@ -42143,6 +43553,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -42289,6 +43704,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -42476,6 +43896,11 @@ null, null, null, + null, + null, + null, + null, + null, "TGGGGCGAAA", null, null, @@ -42622,6 +44047,11 @@ null, null, null, + null, + null, + null, + null, + null, "AAAGGGGCG(2)", null, null, @@ -42712,6 +44142,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -42858,6 +44293,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -43030,6 +44470,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -43176,6 +44621,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -43343,6 +44793,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -43489,6 +44944,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -43675,6 +45135,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -43821,6 +45286,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -43962,6 +45432,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -44108,6 +45583,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -44265,6 +45745,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -44411,6 +45896,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -44504,6 +45994,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -44650,6 +46145,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -44801,6 +46301,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -44947,6 +46452,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -45130,6 +46640,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -45276,6 +46791,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -45430,6 +46950,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -45576,6 +47101,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -45729,6 +47259,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -45875,6 +47410,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -46043,6 +47583,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46189,6 +47734,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46343,6 +47893,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46489,6 +48044,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46643,6 +48203,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46789,6 +48354,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -46912,6 +48482,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -47058,6 +48633,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -47243,6 +48823,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -47389,6 +48974,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -47591,6 +49181,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", "T", null, @@ -47737,6 +49332,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", "T", null, @@ -47830,6 +49430,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -47976,6 +49581,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -48143,6 +49753,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -48289,6 +49904,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -48500,6 +50120,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -48646,6 +50271,11 @@ null, null, null, + null, + null, + null, + null, + null, "C", null, null, @@ -48771,6 +50401,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -48917,6 +50552,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -49014,6 +50654,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -49160,6 +50805,11 @@ null, null, null, + null, + null, + null, + null, + null, "G", null, null, @@ -49308,6 +50958,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -49454,6 +51109,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -49630,6 +51290,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -49776,6 +51441,11 @@ null, null, null, + null, + null, + null, + null, + null, "T", null, null, @@ -49943,6 +51613,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, @@ -50089,6 +51764,11 @@ null, null, null, + null, + null, + null, + null, + null, "A", null, null, diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A4_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A4_translation.json index 10d724d82..622911b58 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A4_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A4_translation.json @@ -1,7 +1,7 @@ { "formatVersion": "2", "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "modificationDate": "2023-10-01T23:03:51.828Z", "gene": "CYP3A4", "orientation": null, @@ -32,7 +32,7 @@ "chromosome": "chr7", "position": 99758228, "cpicPosition": 99758228, - "rsid": null, + "rsid": "rs1584538410", "chromosomeHgvsName": "g.99758228T>A", "cpicAlleles": [ "A", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A5_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A5_translation.json index 0303a7be8..94b3e6c88 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A5_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP3A5_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:16.481Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:54:59.959Z", "gene": "CYP3A5", "orientation": null, "chromosome": "chr7", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP4F2_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP4F2_translation.json index 022b4be91..7f95e7ebd 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP4F2_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/CYP4F2_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:16.502Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:54:59.972Z", "gene": "CYP4F2", "orientation": null, "chromosome": "chr19", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/DPYD_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/DPYD_translation.json index 62eaca044..d29ed6970 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/DPYD_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/DPYD_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:16.634Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:00.172Z", "gene": "DPYD", "orientation": null, "chromosome": "chr1", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/F5_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/F5_translation.json index 4eb7cf03a..1fba0c7dc 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/F5_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/F5_translation.json @@ -1,7 +1,7 @@ { "formatVersion": "2", "source": "PHARMGKB", - "version": "2023-10-05-00-25", + "version": "2023-12-19-10-38", "modificationDate": "2023-05-04T00:06:53.312Z", "gene": "F5", "orientation": null, diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/G6PD_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/G6PD_translation.json index 8d53ed71b..1fc2f6204 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/G6PD_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/G6PD_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:16.945Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:00.427Z", "gene": "G6PD", "orientation": null, "chromosome": "chrX", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/IFNL3_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/IFNL3_translation.json index 1cf96dbd5..b83291663 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/IFNL3_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/IFNL3_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:16.951Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:00.432Z", "gene": "IFNL3", "orientation": null, "chromosome": "chr19", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/NUDT15_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/NUDT15_translation.json index ec4398de0..1754a9ac8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/NUDT15_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/NUDT15_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.014Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:00.471Z", "gene": "NUDT15", "orientation": null, "chromosome": "chr13", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/RYR1_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/RYR1_translation.json index 037e59015..74b2d1b73 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/RYR1_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/RYR1_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.097Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:00.989Z", "gene": "RYR1", "orientation": null, "chromosome": "chr19", @@ -11,108 +11,105 @@ "variants": [ { "chromosome": "chr19", - "position": 38440802, - "cpicPosition": 38440802, - "rsid": "rs193922747", - "chromosomeHgvsName": "g.38440802T>C", + "position": 38433867, + "cpicPosition": 38433867, + "rsid": "rs193922744", + "chromosomeHgvsName": "g.38433867T>G", "cpicAlleles": [ - "C", + "G", "T" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "T": "T", + "G": "G" }, "ref": "T", "alts": [ - "C" + "G" ] }, { "chromosome": "chr19", - "position": 38440829, - "cpicPosition": 38440829, - "rsid": "rs193922748", - "chromosomeHgvsName": "g.38440829C>T", + "position": 38440747, + "cpicPosition": 38440750, + "rsid": "rs193922745", + "chromosomeHgvsName": "g.38440750_38440752delTGA", "cpicAlleles": [ - "C", - "T" + "TGA", + "delTGA" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "delTGA": "C", + "TGA": "CGAT" }, - "ref": "C", + "ref": "CGAT", "alts": [ - "T" + "C" ] }, { "chromosome": "chr19", - "position": 38444211, - "cpicPosition": 38444211, - "rsid": "rs118192161", - "chromosomeHgvsName": "g.38444211C>T", + "position": 38440796, + "cpicPosition": 38440796, + "rsid": "rs193922746", + "chromosomeHgvsName": "g.38440796A>G", "cpicAlleles": [ - "C", - "T" + "A", + "G" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "A": "A", + "G": "G" }, - "ref": "C", + "ref": "A", "alts": [ - "T" + "G" ] }, { "chromosome": "chr19", - "position": 38444212, - "cpicPosition": 38444212, - "rsid": "rs193922753", - "chromosomeHgvsName": "g.38444212G>T", + "position": 38440802, + "cpicPosition": 38440802, + "rsid": "rs193922747", + "chromosomeHgvsName": "g.38440802T>C", "cpicAlleles": [ - "G", + "C", "T" ], "cpicToVcfAlleleMap": { - "T": "T", - "G": "G" + "C": "C", + "T": "T" }, - "ref": "G", + "ref": "T", "alts": [ - "T" + "C" ] }, { "chromosome": "chr19", - "position": 38446710, - "cpicPosition": 38446710, - "rsid": "rs1801086", - "chromosomeHgvsName": "g.38446710G>C; g.38446710G>A", + "position": 38440818, + "cpicPosition": 38440818, + "rsid": null, + "chromosomeHgvsName": "g.38440818G>C", "cpicAlleles": [ - "A", "C", "G" ], "cpicToVcfAlleleMap": { - "A": "A", "C": "C", "G": "G" }, "ref": "G", "alts": [ - "A", "C" ] }, { "chromosome": "chr19", - "position": 38448673, - "cpicPosition": 38448673, - "rsid": "rs193922762", - "chromosomeHgvsName": "g.38448673C>T", + "position": 38440829, + "cpicPosition": 38440829, + "rsid": "rs193922748", + "chromosomeHgvsName": "g.38440829C>T", "cpicAlleles": [ "C", "T" @@ -128,108 +125,108 @@ }, { "chromosome": "chr19", - "position": 38448712, - "cpicPosition": 38448712, - "rsid": "rs121918592", - "chromosomeHgvsName": "g.38448712G>A; g.38448712G>C", + "position": 38440830, + "cpicPosition": 38440830, + "rsid": "rs139161723", + "chromosomeHgvsName": "g.38440830G>A", "cpicAlleles": [ "A", - "C", "G" ], "cpicToVcfAlleleMap": { "A": "A", - "C": "C", "G": "G" }, "ref": "G", "alts": [ - "A", - "C" + "A" ] }, { "chromosome": "chr19", - "position": 38451842, - "cpicPosition": 38451842, - "rsid": "rs193922764", - "chromosomeHgvsName": "g.38451842C>T", + "position": 38440851, + "cpicPosition": 38440851, + "rsid": "rs193922749", + "chromosomeHgvsName": "g.38440851C>A", "cpicAlleles": [ - "C", - "T" + "A", + "C" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "A": "A", + "C": "C" }, "ref": "C", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38451850, - "cpicPosition": 38451850, - "rsid": "rs118192116", - "chromosomeHgvsName": "g.38451850C>G", + "position": 38442361, + "cpicPosition": 38442361, + "rsid": "rs118192160", + "chromosomeHgvsName": "g.38442361G>A; g.38442361G>T", "cpicAlleles": [ - "C", - "G" + "A", + "G", + "T" ], "cpicToVcfAlleleMap": { - "C": "C", + "A": "A", + "T": "T", "G": "G" }, - "ref": "C", + "ref": "G", "alts": [ - "G" + "A", + "T" ] }, { "chromosome": "chr19", - "position": 38455359, - "cpicPosition": 38455359, - "rsid": "rs118192162", - "chromosomeHgvsName": "g.38455359A>C", + "position": 38442373, + "cpicPosition": 38442373, + "rsid": "rs995399438", + "chromosomeHgvsName": "g.38442373T>C", "cpicAlleles": [ - "A", - "C" + "C", + "T" ], "cpicToVcfAlleleMap": { - "A": "A", - "C": "C" + "C": "C", + "T": "T" }, - "ref": "A", + "ref": "T", "alts": [ "C" ] }, { "chromosome": "chr19", - "position": 38455463, - "cpicPosition": 38455463, - "rsid": "rs111888148", - "chromosomeHgvsName": "g.38455463G>A", + "position": 38442395, + "cpicPosition": 38442395, + "rsid": "rs118192113", + "chromosomeHgvsName": "g.38442395C>A", "cpicAlleles": [ "A", - "G" + "C" ], "cpicToVcfAlleleMap": { "A": "A", - "G": "G" + "C": "C" }, - "ref": "G", + "ref": "C", "alts": [ "A" ] }, { "chromosome": "chr19", - "position": 38455471, - "cpicPosition": 38455471, - "rsid": "rs193922768", - "chromosomeHgvsName": "g.38455471C>T", + "position": 38442434, + "cpicPosition": 38442434, + "rsid": "rs186983396", + "chromosomeHgvsName": "g.38442434C>T", "cpicAlleles": [ "C", "T" @@ -245,10 +242,10 @@ }, { "chromosome": "chr19", - "position": 38455472, - "cpicPosition": 38455472, - "rsid": "rs144336148", - "chromosomeHgvsName": "g.38455472G>A", + "position": 38443790, + "cpicPosition": 38443790, + "rsid": "rs142474192", + "chromosomeHgvsName": "g.38443790G>A", "cpicAlleles": [ "A", "G" @@ -264,67 +261,86 @@ }, { "chromosome": "chr19", - "position": 38455528, - "cpicPosition": 38455528, - "rsid": "rs193922770", - "chromosomeHgvsName": "g.38455528C>T", + "position": 38444179, + "cpicPosition": 38444179, + "rsid": null, + "chromosomeHgvsName": "g.38444179C>A", "cpicAlleles": [ - "C", - "T" + "A", + "C" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "A": "A", + "C": "C" }, "ref": "C", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38457545, - "cpicPosition": 38457545, - "rsid": "rs118192172", - "chromosomeHgvsName": "g.38457545C>T", + "position": 38444187, + "cpicPosition": 38444187, + "rsid": "rs193922750", + "chromosomeHgvsName": "g.38444187C>A", "cpicAlleles": [ - "C", - "T" + "A", + "C" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "A": "A", + "C": "C" }, "ref": "C", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38457546, - "cpicPosition": 38457546, - "rsid": "rs193922772", - "chromosomeHgvsName": "g.38457546G>T", + "position": 38444191, + "cpicPosition": 38444191, + "rsid": "rs193922751", + "chromosomeHgvsName": "g.38444191G>A", "cpicAlleles": [ - "G", - "T" + "A", + "G" ], "cpicToVcfAlleleMap": { - "T": "T", + "A": "A", "G": "G" }, "ref": "G", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38494564, - "cpicPosition": 38494564, - "rsid": "rs118192175", - "chromosomeHgvsName": "g.38494564C>T", + "position": 38444203, + "cpicPosition": 38444203, + "rsid": "rs193922752", + "chromosomeHgvsName": "g.38444203A>G", + "cpicAlleles": [ + "A", + "G" + ], + "cpicToVcfAlleleMap": { + "A": "A", + "G": "G" + }, + "ref": "A", + "alts": [ + "G" + ] + }, + { + "chromosome": "chr19", + "position": 38444211, + "cpicPosition": 38444211, + "rsid": "rs118192161", + "chromosomeHgvsName": "g.38444211C>T", "cpicAlleles": [ "C", "T" @@ -340,29 +356,32 @@ }, { "chromosome": "chr19", - "position": 38494565, - "cpicPosition": 38494565, - "rsid": "rs118192163", - "chromosomeHgvsName": "g.38494565G>A", + "position": 38444212, + "cpicPosition": 38444212, + "rsid": "rs193922753", + "chromosomeHgvsName": "g.38444212G>T; g.38444212G>A", "cpicAlleles": [ "A", - "G" + "G", + "T" ], "cpicToVcfAlleleMap": { "A": "A", + "T": "T", "G": "G" }, "ref": "G", "alts": [ - "A" + "A", + "T" ] }, { "chromosome": "chr19", - "position": 38494579, - "cpicPosition": 38494579, - "rsid": "rs118192176", - "chromosomeHgvsName": "g.38494579G>A", + "position": 38444217, + "cpicPosition": 38444217, + "rsid": "rs193922754", + "chromosomeHgvsName": "g.38444217G>A", "cpicAlleles": [ "A", "G" @@ -378,32 +397,29 @@ }, { "chromosome": "chr19", - "position": 38496283, - "cpicPosition": 38496283, - "rsid": "rs118192177", - "chromosomeHgvsName": "g.38496283C>G; g.38496283C>T", + "position": 38444220, + "cpicPosition": 38444220, + "rsid": "rs193922755", + "chromosomeHgvsName": "g.38444220G>A", "cpicAlleles": [ - "C", - "G", - "T" + "A", + "G" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T", + "A": "A", "G": "G" }, - "ref": "C", + "ref": "G", "alts": [ - "G", - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38499223, - "cpicPosition": 38499223, - "rsid": "rs112563513", - "chromosomeHgvsName": "g.38499223G>A", + "position": 38444221, + "cpicPosition": 38444221, + "rsid": "rs193922756", + "chromosomeHgvsName": "g.38444221A>G", "cpicAlleles": [ "A", "G" @@ -412,55 +428,55 @@ "A": "A", "G": "G" }, - "ref": "G", + "ref": "A", "alts": [ - "A" + "G" ] }, { "chromosome": "chr19", - "position": 38499644, - "cpicPosition": 38499646, - "rsid": "rs121918596", - "chromosomeHgvsName": "g.38499646_38499648delGAG", + "position": 38444250, + "cpicPosition": 38444250, + "rsid": "rs761616815", + "chromosomeHgvsName": "g.38444250G>A", "cpicAlleles": [ - "GAG", - "delGAG" + "A", + "G" ], "cpicToVcfAlleleMap": { - "delGAG": "T", - "GAG": "TGGA" + "A": "A", + "G": "G" }, - "ref": "TGGA", + "ref": "G", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38499655, - "cpicPosition": 38499655, - "rsid": "rs193922802", - "chromosomeHgvsName": "g.38499655G>A", + "position": 38444252, + "cpicPosition": 38444252, + "rsid": null, + "chromosomeHgvsName": "g.38444252G>T", "cpicAlleles": [ - "A", - "G" + "G", + "T" ], "cpicToVcfAlleleMap": { - "A": "A", + "T": "T", "G": "G" }, "ref": "G", "alts": [ - "A" + "T" ] }, { "chromosome": "chr19", - "position": 38499670, - "cpicPosition": 38499670, - "rsid": "rs193922803", - "chromosomeHgvsName": "g.38499670C>T", + "position": 38444253, + "cpicPosition": 38444253, + "rsid": "rs193922757", + "chromosomeHgvsName": "g.38444253C>T", "cpicAlleles": [ "C", "T" @@ -476,29 +492,32 @@ }, { "chromosome": "chr19", - "position": 38499731, - "cpicPosition": 38499731, - "rsid": "rs193922807", - "chromosomeHgvsName": "g.38499731G>C", + "position": 38444257, + "cpicPosition": 38444257, + "rsid": null, + "chromosomeHgvsName": "g.38444257A>G; g.38444257A>C", "cpicAlleles": [ + "A", "C", "G" ], "cpicToVcfAlleleMap": { + "A": "A", "C": "C", "G": "G" }, - "ref": "G", + "ref": "A", "alts": [ - "C" + "C", + "G" ] }, { "chromosome": "chr19", - "position": 38499975, - "cpicPosition": 38499975, - "rsid": "rs193922809", - "chromosomeHgvsName": "g.38499975G>A", + "position": 38444671, + "cpicPosition": 38444671, + "rsid": "rs771058055", + "chromosomeHgvsName": "g.38444671G>A", "cpicAlleles": [ "A", "G" @@ -514,29 +533,29 @@ }, { "chromosome": "chr19", - "position": 38499993, - "cpicPosition": 38499993, - "rsid": "rs121918593", - "chromosomeHgvsName": "g.38499993G>A", + "position": 38446481, + "cpicPosition": 38446481, + "rsid": "rs727504129", + "chromosomeHgvsName": "g.38446481C>T", "cpicAlleles": [ - "A", - "G" + "C", + "T" ], "cpicToVcfAlleleMap": { - "A": "A", - "G": "G" + "C": "C", + "T": "T" }, - "ref": "G", + "ref": "C", "alts": [ - "A" + "T" ] }, { "chromosome": "chr19", - "position": 38499997, - "cpicPosition": 38499997, - "rsid": "rs28933396", - "chromosomeHgvsName": "g.38499997G>A", + "position": 38446492, + "cpicPosition": 38446492, + "rsid": "rs193922759", + "chromosomeHgvsName": "g.38446492G>A", "cpicAlleles": [ "A", "G" @@ -552,67 +571,70 @@ }, { "chromosome": "chr19", - "position": 38500636, - "cpicPosition": 38500636, - "rsid": "rs118192124", - "chromosomeHgvsName": "g.38500636C>T", + "position": 38446517, + "cpicPosition": 38446517, + "rsid": "rs112596687", + "chromosomeHgvsName": "g.38446517T>A", "cpicAlleles": [ - "C", + "A", "T" ], "cpicToVcfAlleleMap": { - "C": "C", + "A": "A", "T": "T" }, - "ref": "C", + "ref": "T", "alts": [ - "T" + "A" ] }, { "chromosome": "chr19", - "position": 38500642, - "cpicPosition": 38500642, - "rsid": "rs193922816", - "chromosomeHgvsName": "g.38500642C>T", + "position": 38446520, + "cpicPosition": 38446520, + "rsid": "rs193922760", + "chromosomeHgvsName": "g.38446520A>T", "cpicAlleles": [ - "C", + "A", "T" ], "cpicToVcfAlleleMap": { - "C": "C", + "A": "A", "T": "T" }, - "ref": "C", + "ref": "A", "alts": [ "T" ] }, { "chromosome": "chr19", - "position": 38500643, - "cpicPosition": 38500643, - "rsid": "rs118192122", - "chromosomeHgvsName": "g.38500643G>A", + "position": 38446710, + "cpicPosition": 38446710, + "rsid": "rs1801086", + "chromosomeHgvsName": "g.38446710G>A; g.38446710G>C", "cpicAlleles": [ "A", + "C", "G" ], "cpicToVcfAlleleMap": { "A": "A", + "C": "C", "G": "G" }, "ref": "G", "alts": [ - "A" + "A", + "C" ] }, { "chromosome": "chr19", - "position": 38500654, - "cpicPosition": 38500654, - "rsid": "rs28933397", - "chromosomeHgvsName": "g.38500654C>T", + "position": 38448500, + "cpicPosition": 38448500, + "rsid": "rs752652072", + "chromosomeHgvsName": "g.38448500C>T", "cpicAlleles": [ "C", "T" @@ -628,70 +650,89 @@ }, { "chromosome": "chr19", - "position": 38500655, - "cpicPosition": 38500655, - "rsid": "rs121918594", - "chromosomeHgvsName": "g.38500655G>A", + "position": 38448501, + "cpicPosition": 38448501, + "rsid": "rs193922761", + "chromosomeHgvsName": "g.38448501G>T", "cpicAlleles": [ - "A", - "G" + "G", + "T" ], "cpicToVcfAlleleMap": { - "A": "A", + "T": "T", "G": "G" }, "ref": "G", "alts": [ - "A" + "T" ] }, { "chromosome": "chr19", - "position": 38500898, - "cpicPosition": 38500898, - "rsid": "rs118192178", - "chromosomeHgvsName": "g.38500898C>T; g.38500898C>G", + "position": 38448673, + "cpicPosition": 38448673, + "rsid": "rs193922762", + "chromosomeHgvsName": "g.38448673C>T", "cpicAlleles": [ "C", - "G", "T" ], "cpicToVcfAlleleMap": { "C": "C", - "T": "T", - "G": "G" + "T": "T" }, "ref": "C", "alts": [ - "G", "T" ] }, { "chromosome": "chr19", - "position": 38500899, - "cpicPosition": 38500899, - "rsid": "rs193922818", - "chromosomeHgvsName": "g.38500899G>A", + "position": 38448680, + "cpicPosition": 38448680, + "rsid": null, + "chromosomeHgvsName": "g.38448680_38448681insGGA", + "cpicAlleles": [ + "del", + "insGGA" + ], + "cpicToVcfAlleleMap": { + "insGGA": "TGGA", + "del": "T" + }, + "ref": "T", + "alts": [ + "TGGA" + ] + }, + { + "chromosome": "chr19", + "position": 38448712, + "cpicPosition": 38448712, + "rsid": "rs121918592", + "chromosomeHgvsName": "g.38448712G>A; g.38448712G>C", "cpicAlleles": [ "A", + "C", "G" ], "cpicToVcfAlleleMap": { "A": "A", + "C": "C", "G": "G" }, "ref": "G", "alts": [ - "A" + "A", + "C" ] }, { "chromosome": "chr19", - "position": 38512321, - "cpicPosition": 38512321, - "rsid": "rs193922832", - "chromosomeHgvsName": "g.38512321G>A", + "position": 38448715, + "cpicPosition": 38448715, + "rsid": null, + "chromosomeHgvsName": "g.38448715G>A", "cpicAlleles": [ "A", "G" @@ -707,86 +748,98 @@ }, { "chromosome": "chr19", - "position": 38543832, - "cpicPosition": 38543832, - "rsid": "rs193922843", - "chromosomeHgvsName": "g.38543832G>T", + "position": 38448791, + "cpicPosition": 38448791, + "rsid": "rs113332073", + "chromosomeHgvsName": "g.38448791G>A; g.38448791G>T", "cpicAlleles": [ + "A", "G", "T" ], "cpicToVcfAlleleMap": { + "A": "A", "T": "T", "G": "G" }, "ref": "G", "alts": [ + "A", "T" ] }, { "chromosome": "chr19", - "position": 38580004, - "cpicPosition": 38580004, - "rsid": "rs118192167", - "chromosomeHgvsName": "g.38580004A>G", + "position": 38451785, + "cpicPosition": 38451785, + "rsid": null, + "chromosomeHgvsName": "g.38451785C>A", "cpicAlleles": [ "A", - "G" + "C" ], "cpicToVcfAlleleMap": { "A": "A", - "G": "G" + "C": "C" }, - "ref": "A", + "ref": "C", "alts": [ - "G" + "A" ] }, { "chromosome": "chr19", - "position": 38580094, - "cpicPosition": 38580094, - "rsid": "rs121918595", - "chromosomeHgvsName": "g.38580094C>T", + "position": 38451842, + "cpicPosition": 38451842, + "rsid": "rs193922764", + "chromosomeHgvsName": "g.38451842C>T; g.38451842C>A; g.38451842C>G", "cpicAlleles": [ + "A", "C", + "G", "T" ], "cpicToVcfAlleleMap": { + "A": "A", "C": "C", - "T": "T" + "T": "T", + "G": "G" }, "ref": "C", "alts": [ + "A", + "G", "T" ] }, { "chromosome": "chr19", - "position": 38580114, - "cpicPosition": 38580114, - "rsid": "rs193922876", - "chromosomeHgvsName": "g.38580114C>T", + "position": 38451843, + "cpicPosition": 38451843, + "rsid": "rs193922766", + "chromosomeHgvsName": "g.38451843G>T; g.38451843G>A", "cpicAlleles": [ - "C", + "A", + "G", "T" ], "cpicToVcfAlleleMap": { - "C": "C", - "T": "T" + "A": "A", + "T": "T", + "G": "G" }, - "ref": "C", + "ref": "G", "alts": [ + "A", "T" ] }, { "chromosome": "chr19", - "position": 38580370, - "cpicPosition": 38580370, - "rsid": "rs193922878", - "chromosomeHgvsName": "g.38580370C>G", + "position": 38451850, + "cpicPosition": 38451850, + "rsid": "rs118192116", + "chromosomeHgvsName": "g.38451850C>G", "cpicAlleles": [ "C", "G" @@ -802,29 +855,48 @@ }, { "chromosome": "chr19", - "position": 38580403, - "cpicPosition": 38580403, - "rsid": "rs118192168", - "chromosomeHgvsName": "g.38580403G>A", + "position": 38452985, + "cpicPosition": 38452985, + "rsid": null, + "chromosomeHgvsName": "g.38452985C>T", "cpicAlleles": [ - "A", - "G" + "C", + "T" ], "cpicToVcfAlleleMap": { - "A": "A", + "C": "C", + "T": "T" + }, + "ref": "C", + "alts": [ + "T" + ] + }, + { + "chromosome": "chr19", + "position": 38452996, + "cpicPosition": 38452996, + "rsid": "rs193922767", + "chromosomeHgvsName": "g.38452996G>T", + "cpicAlleles": [ + "G", + "T" + ], + "cpicToVcfAlleleMap": { + "T": "T", "G": "G" }, "ref": "G", "alts": [ - "A" + "T" ] }, { "chromosome": "chr19", - "position": 38580440, - "cpicPosition": 38580440, - "rsid": "rs63749869", - "chromosomeHgvsName": "g.38580440G>A", + "position": 38455247, + "cpicPosition": 38455247, + "rsid": "rs147723844", + "chromosomeHgvsName": "g.38455247A>G", "cpicAlleles": [ "A", "G" @@ -833,17 +905,36 @@ "A": "A", "G": "G" }, - "ref": "G", + "ref": "A", "alts": [ - "A" + "G" ] }, { "chromosome": "chr19", - "position": 38584989, - "cpicPosition": 38584989, - "rsid": "rs118192170", - "chromosomeHgvsName": "g.38584989T>C", + "position": 38455253, + "cpicPosition": 38455253, + "rsid": null, + "chromosomeHgvsName": "g.38455253C>G", + "cpicAlleles": [ + "C", + "G" + ], + "cpicToVcfAlleleMap": { + "C": "C", + "G": "G" + }, + "ref": "C", + "alts": [ + "G" + ] + }, + { + "chromosome": "chr19", + "position": 38455254, + "cpicPosition": 38455254, + "rsid": null, + "chromosomeHgvsName": "g.38455254T>C", "cpicAlleles": [ "C", "T" @@ -856,114 +947,216731 @@ "alts": [ "C" ] - } - ], - "namedAlleles": [ + }, { - "name": "Reference", - "id": "779148", - "alleles": [ - "T", - "C", - "C", - "G", - "G", - "C", - "G", - "C", - "C", + "chromosome": "chr19", + 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null, null, - "T", null, null, null, @@ -4406,9 +221125,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4440,7 +221156,6 @@ null, null, null, - "T", null, null, null, @@ -4452,17 +221167,6 @@ null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.7373G>A", - "id": "779220", - "alleles": [ null, null, null, @@ -4495,7 +221199,6 @@ null, null, null, - "A", null, null, null, @@ -4506,9 +221209,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4541,28 +221241,11 @@ null, null, null, - "A", null, null, null, null, null, - null, - null, - null, - null, - null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.7522C>G", - "id": "779224", - "alleles": [ null, null, null, @@ -4596,7 +221279,6 @@ null, null, null, - "G", null, null, null, @@ -4606,9 +221288,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4642,7 +221321,6 @@ null, null, null, - "G", null, null, null, @@ -4651,18 +221329,6 @@ null, null, null, - null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.7522C>T", - "id": "779222", - "alleles": [ null, null, null, @@ -4688,6 +221354,10 @@ null, null, null, + "C", + null + ], + "cpicAlleles": [ null, null, null, @@ -4696,7 +221366,6 @@ null, null, null, - "T", null, null, null, @@ -4706,9 +221375,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4742,7 +221408,6 @@ null, null, null, - "T", null, null, null, @@ -4752,17 +221417,6 @@ null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.7523G>A", - "id": "779226", - "alleles": [ null, null, null, @@ -4797,7 +221451,6 @@ null, null, null, - "A", null, null, null, @@ -4806,9 +221459,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4843,7 +221493,6 @@ null, null, null, - "A", null, null, null, @@ -4852,17 +221501,6 @@ null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.9310G>A", - "id": "779228", - "alleles": [ null, null, null, @@ -4898,7 +221536,6 @@ null, null, null, - "A", null, null, null, @@ -4906,9 +221543,6 @@ null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -4944,7 +221578,6 @@ null, null, null, - "A", null, null, null, @@ -4952,17 +221585,6 @@ null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.11969G>T", - "id": "779230", - "alleles": [ null, null, null, @@ -4999,16 +221621,12 @@ null, null, null, - "T", null, null, null, null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -5045,13 +221663,13 @@ null, null, null, - "T", null, null, null, null, null, null, + "C", null ], "populationFrequency": null, @@ -5060,8 +221678,8 @@ "numPartials": 0 }, { - "name": "c.14387A>G", - "id": "779232", + "name": "c.15060G>C", + "id": "3685982", "alleles": [ null, null, @@ -5100,15 +221718,11 @@ null, null, null, - "G", null, null, null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -5146,23 +221760,11 @@ null, null, null, - "G", null, null, null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14477C>T", - "id": "779234", - "alleles": [ null, null, null, @@ -5201,14 +221803,10 @@ null, null, null, - "T", null, null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -5247,22 +221845,10 @@ null, null, null, - "T", null, null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14497C>T", - "id": "779236", - "alleles": [ null, null, null, @@ -5302,13 +221888,9 @@ null, null, null, - "T", null, null, null, - null - ], - "cpicAlleles": [ null, null, null, @@ -5348,21 +221930,9 @@ null, null, null, - "T", null, null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14512C>G", - "id": "779238", - "alleles": [ null, null, null, @@ -5403,10 +221973,27 @@ null, null, null, - "G", null, null, - null + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + "C" ], "cpicAlleles": [ null, @@ -5449,20 +222036,8 @@ null, null, null, - "G", null, null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14545G>A", - "id": "779240", - "alleles": [ null, null, null, @@ -5504,11 +222079,7 @@ null, null, null, - "A", null, - null - ], - "cpicAlleles": [ null, null, null, @@ -5550,19 +222121,7 @@ null, null, null, - "A", null, - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14582G>A", - "id": "779242", - "alleles": [ null, null, null, @@ -5605,10 +222164,6 @@ null, null, null, - "A", - null - ], - "cpicAlleles": [ null, null, null, @@ -5651,18 +222206,6 @@ null, null, null, - "A", - null - ], - "populationFrequency": null, - "reference": false, - "numCombinations": 0, - "numPartials": 0 - }, - { - "name": "c.14693T>C", - "id": "779244", - "alleles": [ null, null, null, @@ -5706,9 +222249,22 @@ null, null, null, - "C" - ], - "cpicAlleles": [ + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, + null, null, null, null, diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/SLCO1B1_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/SLCO1B1_translation.json index 40dbd702f..f6a0cc3f5 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/SLCO1B1_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/SLCO1B1_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.154Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:01.021Z", "gene": "SLCO1B1", "orientation": null, "chromosome": "chr12", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/TPMT_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/TPMT_translation.json index e4a5262db..b1be5b084 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/TPMT_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/TPMT_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.216Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:01.053Z", "gene": "TPMT", "orientation": null, "chromosome": "chr6", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/UGT1A1_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/UGT1A1_translation.json index 84744da74..afdb94405 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/UGT1A1_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/UGT1A1_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.227Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:01.059Z", "gene": "UGT1A1", "orientation": null, "chromosome": "chr2", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/VKORC1_translation.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/VKORC1_translation.json index 04772ec98..65d5d2f02 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/VKORC1_translation.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/VKORC1_translation.json @@ -1,8 +1,8 @@ { "formatVersion": "2", "source": "CPIC", - "version": "v1.32.0", - "modificationDate": "2023-10-03T03:13:17.233Z", + "version": "v1.35.0-2-gf40f6f6", + "modificationDate": "2023-12-19T16:55:01.062Z", "gene": "VKORC1", "orientation": null, "chromosome": "chr16", diff --git a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/exemptions.json b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/exemptions.json index 1f7b47aee..fa23fbc27 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/exemptions.json +++ b/src/main/resources/org/pharmgkb/pharmcat/definition/alleles/exemptions.json @@ -77,5 +77,33 @@ "mediterranean haplotype" ], "allHits": null + }, + { + "gene": "RYR1", + "ignoredPositions": [ + { + "chromosome": "chr19", + "position": 38580126, + "cpicPosition": 38580126, + "rsid": "rs193922877", + "chromosomeHgvsName": "g.38580127del", + "cpicAlleles": [ + "C", + "CA" + ], + "cpicToVcfAlleleMap": { + "C": "C", + "CA": "CA" + }, + "ref": "CA", + "alts": [ + "C" + ] + } + ], + "extraPositions": [], + "ignoredAlleles": [], + "ignoredAllelesLc": [], + "allHits": null } ] \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/ABCG2.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/ABCG2.json index 62ac2b7fc..d7732290d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/ABCG2.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/ABCG2.json @@ -55,5 +55,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CACNA1S.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CACNA1S.json index 3c9e4c3f6..c3e08cd87 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CACNA1S.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CACNA1S.json @@ -97,5 +97,5 @@ "lookupKey": "Malignant Hyperthermia associated" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CFTR.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CFTR.json index 1214ec18b..5bb4c7204 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CFTR.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CFTR.json @@ -10087,5 +10087,5 @@ "lookupKey": "ivacaftor non-responsive" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2B6.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2B6.json index 097ac1053..76c1ce1a9 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2B6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2B6.json @@ -8665,5 +8665,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C19.json index bca7dc949..b250e7580 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C19.json @@ -8215,5 +8215,5 @@ "lookupKey": "Uncertain function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C9.json index c96991ab9..ad1a83714 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2C9.json @@ -34733,5 +34733,5 @@ "lookupKey": "n/a" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2D6.json index 1e8bbda02..efbe6f688 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP2D6.json @@ -194573,5 +194573,5 @@ "lookupKey": "n/a" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP3A5.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP3A5.json index 2dbc7836b..1cb88f90c 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP3A5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/CYP3A5.json @@ -295,5 +295,5 @@ "lookupKey": "Unknown function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/DPYD.json index 43a386748..f0d8693e7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/DPYD.json @@ -42421,5 +42421,5 @@ "lookupKey": "1.0" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/G6PD.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/G6PD.json index 5d6678d69..3258ad5ec 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/G6PD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/G6PD.json @@ -214122,5 +214122,5 @@ "lookupKey": "Uncertain function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/IFNL3.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/IFNL3.json index 15af63f85..16ea60787 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/IFNL3.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/IFNL3.json @@ -20,5 +20,5 @@ "lookupKey": "Unfavorable response allele" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/MT_RNR1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/MT_RNR1.json index 609510443..1433129b0 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/MT_RNR1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/MT_RNR1.json @@ -457,5 +457,5 @@ "lookupKey": "Normal risk of aminoglycoside-induced hearing loss" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/NUDT15.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/NUDT15.json index ca6c4d1bf..62a46b6e2 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/NUDT15.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/NUDT15.json @@ -601,5 +601,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/RYR1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/RYR1.json index 618d32c75..5bd34017f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/RYR1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/RYR1.json @@ -2,54 +2,345 @@ "gene": "RYR1", "haplotypes": { "Reference": "Normal function", + "c.38T>G": "Malignant Hyperthermia associated", + "c.51_53del": "Uncertain function", + "c.97A>G": "Malignant Hyperthermia associated", "c.103T>C": "Malignant Hyperthermia associated", + "c.119G>C": "Uncertain function", "c.130C>T": "Malignant Hyperthermia associated", + "c.131G>A": "Uncertain function", + "c.152C>A": "Uncertain function", + "c.178G>A": "Uncertain function", + "c.178G>T": "Uncertain function", + "c.190T>C": "Uncertain function", + "c.212C>A": "Uncertain function", + "c.251C>T": "Uncertain function", + "c.418G>A": "Normal function", + "c.455C>A": "Uncertain function", + "c.463C>A": "Malignant Hyperthermia associated", + "c.467G>A": "Uncertain function", + "c.479A>G": "Uncertain function", "c.487C>T": "Malignant Hyperthermia associated", + "c.488G>A": "Uncertain function", "c.488G>T": "Malignant Hyperthermia associated", + "c.493G>A": "Uncertain function", + "c.496G>A": "Uncertain function", + "c.497A>G": "Uncertain function", + "c.526G>A": "Uncertain function", + "c.528G>T": "Uncertain function", + "c.529C>T": "Malignant Hyperthermia associated", + "c.533A>C": "Uncertain function", + "c.533A>G": "Malignant Hyperthermia associated", + "c.625G>A": "Uncertain function", + "c.641C>T": "Uncertain function", + "c.652G>A": "Uncertain function", + "c.677T>A": "Uncertain function", + "c.680A>T": "Uncertain function", "c.742G>A": "Malignant Hyperthermia associated", "c.742G>C": "Malignant Hyperthermia associated", + "c.946C>T": "Uncertain function", + "c.947G>T": "Uncertain function", "c.982C>T": "Malignant Hyperthermia associated", + "c.992_994dup": "Uncertain function", "c.1021G>A": "Malignant Hyperthermia associated", "c.1021G>C": "Malignant Hyperthermia associated", + "c.1024G>A": "Uncertain function", + "c.1100G>A": "Uncertain function", + "c.1100G>T": "Uncertain function", + "c.1144C>A": "Uncertain function", + "c.1201C>A": "Uncertain function", + "c.1201C>G": "Uncertain function", "c.1201C>T": "Malignant Hyperthermia associated", - "c.1209C>G": "Malignant Hyperthermia associated", + "c.1202G>A": "Malignant Hyperthermia associated", + "c.1202G>T": "Malignant Hyperthermia associated", + "c.1209C>G": "Uncertain function", + "c.1411C>T": "Uncertain function", + "c.1422G>T": "Uncertain function", + "c.1453A>G": "Uncertain function", + "c.1459C>G": "Uncertain function", + "c.1460T>C": "Uncertain function", + "c.1475G>A": "Uncertain function", + "c.1553T>C": "Uncertain function", "c.1565A>C": "Malignant Hyperthermia associated", + "c.1565A>G": "Malignant Hyperthermia associated", "c.1589G>A": "Malignant Hyperthermia associated", + "c.1597C>A": "Uncertain function", "c.1597C>T": "Malignant Hyperthermia associated", "c.1598G>A": "Uncertain function", + "c.1615T>C": "Malignant Hyperthermia associated", + "c.1615T>G": "Malignant Hyperthermia associated", + "c.1630G>T": "Malignant Hyperthermia associated", "c.1654C>T": "Malignant Hyperthermia associated", + "c.1834G>C": "Uncertain function", "c.1840C>T": "Malignant Hyperthermia associated", "c.1841G>T": "Malignant Hyperthermia associated", + "c.2050G>C": "Uncertain function", + "c.2122G>A": "Uncertain function", + "c.2447C>T": "Normal function", + "c.2537C>T": "Uncertain function", + "c.2654G>A": "Uncertain function", + "c.2797G>A": "Normal function", + "c.2924G>A": "Uncertain function", + "c.2996G>A": "Uncertain function", + "c.3095G>A": "Uncertain function", + "c.3127C>T": "Uncertain function", + "c.3166G>A": "Uncertain function", + "c.3166G>C": "Malignant Hyperthermia associated", + "c.3172G>A": "Uncertain function", + "c.3224G>A": "Normal function", + 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"name": "c.13505A>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13513G>C", + "activityValue": null, + "functionValue": "Normal function", + "lookupKey": "Normal function" + }, + { + "name": "c.13672C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13673G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13702C>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13760C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13913G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13918A>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13934G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13990T>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.13994_13995delTCinsCT", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14002C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14051T>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14126C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14168G>A", + "activityValue": null, + "functionValue": "Normal function", + "lookupKey": "Normal function" + }, + { + "name": "c.14186A>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14197T>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14201G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14209C>T", + "activityValue": null, + "functionValue": "Malignant Hyperthermia associated", + "lookupKey": "Malignant Hyperthermia associated" + }, + { + "name": "c.14210G>A", "activityValue": null, "functionValue": "Malignant Hyperthermia associated", "lookupKey": "Malignant Hyperthermia associated" }, + { + "name": "c.14270G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14364+1G>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14387A>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14422_14423delinsAA", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14424C>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14449A>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14458G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14458G>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14471T>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, { "name": "c.14477C>T", "activityValue": null, @@ -14976,30 +697524,168 @@ "functionValue": "Malignant Hyperthermia associated", "lookupKey": "Malignant Hyperthermia associated" }, + { + "name": "c.14509C>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14510delA", + "activityValue": null, + "functionValue": "Normal function", + "lookupKey": "Normal function" + }, { "name": "c.14512C>G", "activityValue": null, "functionValue": "Malignant Hyperthermia associated", "lookupKey": "Malignant Hyperthermia associated" }, + { + "name": "c.14524G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14539G>C", + "activityValue": null, + "functionValue": "Malignant Hyperthermia associated", + "lookupKey": "Malignant Hyperthermia associated" + }, { "name": "c.14545G>A", "activityValue": null, "functionValue": "Malignant Hyperthermia associated", "lookupKey": "Malignant Hyperthermia associated" }, + { + "name": "c.14558C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14567C>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14581C>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, { "name": "c.14582G>A", "activityValue": null, "functionValue": "Uncertain function", "lookupKey": "Uncertain function" }, + { + "name": "c.14627A>G", + "activityValue": null, + "functionValue": "Malignant Hyperthermia associated", + "lookupKey": "Malignant Hyperthermia associated" + }, + { + "name": "c.14639T>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14678G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14680G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, { "name": "c.14693T>C", "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14782A>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14803G>A", + "activityValue": null, + "functionValue": "Malignant Hyperthermia associated", + "lookupKey": "Malignant Hyperthermia associated" + }, + { + "name": "c.14813T>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14814C>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14817C>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14818G>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14825G>T", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14879T>A", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.14918C>T", + "activityValue": null, "functionValue": "Malignant Hyperthermia associated", "lookupKey": "Malignant Hyperthermia associated" + }, + { + "name": "c.14968A>G", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.15059G>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" + }, + { + "name": "c.15060G>C", + "activityValue": null, + "functionValue": "Uncertain function", + "lookupKey": "Uncertain function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/SLCO1B1.json index 24c24750b..d7ec9df33 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/SLCO1B1.json @@ -12151,5 +12151,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/TPMT.json index 9b72b9295..c4f9bbdfb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/TPMT.json @@ -11617,5 +11617,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/UGT1A1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/UGT1A1.json index 33ee901bb..ec2b0afd5 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/UGT1A1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/cpic/UGT1A1.json @@ -601,5 +601,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/ABCG2.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/ABCG2.json index 62ac2b7fc..d7732290d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/ABCG2.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/ABCG2.json @@ -55,5 +55,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2B6.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2B6.json index cee000a6a..92882c65a 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2B6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2B6.json @@ -217,5 +217,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C19.json index dd44763ad..4019e142d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C19.json @@ -865,5 +865,5 @@ "lookupKey": "Increased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C9.json index 3c8f7988b..4c1455c18 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2C9.json @@ -727,5 +727,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2D6.json index ab285abe8..66897332e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP2D6.json @@ -12743,5 +12743,5 @@ "lookupKey": "0.0" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A4.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A4.json index 6c40259ac..f6cc3e090 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A4.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A4.json @@ -1015,5 +1015,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A5.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A5.json index ea683a878..1fcfd07b8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/CYP3A5.json @@ -151,5 +151,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/DPYD.json index ce6ed2d77..e1c3124c1 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/DPYD.json @@ -223,5 +223,5 @@ "lookupKey": "0.5" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/F5.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/F5.json index 4386a75a5..572ddf1f8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/F5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/F5.json @@ -55,5 +55,5 @@ "lookupKey": "Factor V Leiden positive" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/NUDT15.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/NUDT15.json index a961ec89a..fa5549af7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/NUDT15.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/NUDT15.json @@ -601,5 +601,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/SLCO1B1.json index 762e2c9fb..b706ea622 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/SLCO1B1.json @@ -295,5 +295,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/TPMT.json index 512f08767..8349ceeff 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/TPMT.json @@ -2647,5 +2647,5 @@ "lookupKey": "No function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/UGT1A1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/UGT1A1.json index 4d94b16f5..8301d9986 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/UGT1A1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/UGT1A1.json @@ -487,5 +487,5 @@ "lookupKey": "Decreased function" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/VKORC1.json b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/VKORC1.json index d26c3564d..267b28745 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/VKORC1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/phenotype/dpwg/VKORC1.json @@ -55,5 +55,5 @@ "lookupKey": "Higher coumarin sensitivity" } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_abacavir_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_abacavir_and_HLA_B.json index c015f324e..ede7daa44 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_abacavir_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_abacavir_and_HLA_B.json @@ -117,5 +117,5 @@ "year": 2012 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_allopurinol_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_allopurinol_and_HLA_B.json index c98ad29c1..657c9fe4d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_allopurinol_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_allopurinol_and_HLA_B.json @@ -120,5 +120,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amikacin_gentamicin_kanamycin_paromomycin_plazomicin_streptomycin_tobramycin_and_MT_RNR1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amikacin_gentamicin_kanamycin_paromomycin_plazomicin_streptomycin_tobramycin_and_MT_RNR1.json index 088060199..be677b4e6 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amikacin_gentamicin_kanamycin_paromomycin_plazomicin_streptomycin_tobramycin_and_MT_RNR1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amikacin_gentamicin_kanamycin_paromomycin_plazomicin_streptomycin_tobramycin_and_MT_RNR1.json @@ -684,5 +684,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amitriptyline_and_CYP2C19_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amitriptyline_and_CYP2C19_CYP2D6.json index e19ab737d..a2015adc8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amitriptyline_and_CYP2C19_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_amitriptyline_and_CYP2C19_CYP2D6.json @@ -6682,5 +6682,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atazanavir_and_UGT1A1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atazanavir_and_UGT1A1.json index a98f6c6cb..a367f10ea 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atazanavir_and_UGT1A1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atazanavir_and_UGT1A1.json @@ -165,5 +165,5 @@ "year": 2016 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atomoxetine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atomoxetine_and_CYP2D6.json index 39a275af7..c2eef25ca 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atomoxetine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atomoxetine_and_CYP2D6.json @@ -1345,5 +1345,5 @@ "year": 2019 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atorvastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atorvastatin_and_SLCO1B1.json index 9389b326b..bc9b6e88a 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atorvastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_atorvastatin_and_SLCO1B1.json @@ -228,5 +228,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_azathioprine_and_NUDT15_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_azathioprine_and_NUDT15_TPMT.json index 365634bcf..af48a893e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_azathioprine_and_NUDT15_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_azathioprine_and_NUDT15_TPMT.json @@ -1178,5 +1178,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_capecitabine_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_capecitabine_and_DPYD.json index 62dc4ba5b..f37e8f8e4 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_capecitabine_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_capecitabine_and_DPYD.json @@ -204,5 +204,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_carbamazepine_and_HLA_A_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_carbamazepine_and_HLA_A_HLA_B.json index 02a76c7e7..2830d4966 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_carbamazepine_and_HLA_A_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_carbamazepine_and_HLA_A_HLA_B.json @@ -815,5 +815,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_celecoxib_flurbiprofen_ibuprofen_lornoxicam_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_celecoxib_flurbiprofen_ibuprofen_lornoxicam_and_CYP2C9.json index a92132e7a..0892f59b7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_celecoxib_flurbiprofen_ibuprofen_lornoxicam_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_celecoxib_flurbiprofen_ibuprofen_lornoxicam_and_CYP2C9.json @@ -753,5 +753,5 @@ "year": 2020 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_citalopram_escitalopram_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_citalopram_escitalopram_and_CYP2C19.json index a4434f1ce..69c35603b 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_citalopram_escitalopram_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_citalopram_escitalopram_and_CYP2C19.json @@ -545,5 +545,5 @@ "year": 2015 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clomipramine_and_CYP2C19_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clomipramine_and_CYP2C19_CYP2D6.json index 919164143..2c7adffdf 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clomipramine_and_CYP2C19_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clomipramine_and_CYP2C19_CYP2D6.json @@ -6682,5 +6682,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clopidogrel_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clopidogrel_and_CYP2C19.json index 18f5b79e0..48d90e3a0 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clopidogrel_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_clopidogrel_and_CYP2C19.json @@ -68,7 +68,7 @@ ], "text": { "id": 1452060173, - "html": "

    Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication. The strength of recommendation for "likely" phenotypes are the same as their respective confirmed phenotypes. "Likely" indicates the uncertainty in the phenotype assignment, but it is reasonable to apply the recommendation for the confirmed phenotype to the corresponding "likely" phenotype.

    \n" + "html": "

    Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication. The strength of recommendation for "likely" phenotypes are the same as their respective confirmed phenotypes. "Likely" indicates the uncertainty in the phenotype assignment, but it is reasonable to apply the recommendation for the confirmed phenotype to the corresponding "likely" phenotype.

    \n" }, "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" @@ -242,7 +242,7 @@ ], "text": { "id": 1452060174, - "html": "

    Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication.

    \n" + "html": "

    Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication.

    \n" }, "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" @@ -271,7 +271,7 @@ ], "text": { "id": 1452060183, - "html": "

    Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI. The strength of recommendation for "likely" phenotypes are the same as their respective confirmed phenotypes. "Likely" indicates the uncertainty in the phenotype assignment, but it is reasonable to apply the recommendation for the confirmed phenotype to the corresponding "likely" phenotype.

    \n" + "html": "

    Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI. The strength of recommendation for "likely" phenotypes are the same as their respective confirmed phenotypes. "Likely" indicates the uncertainty in the phenotype assignment, but it is reasonable to apply the recommendation for the confirmed phenotype to the corresponding "likely" phenotype.

    \n" }, "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" @@ -416,7 +416,7 @@ ], "text": { "id": 1452060184, - "html": "

    Avoid standard dose (75 mg/day) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI.

    \n" + "html": "

    Avoid clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

    \n

    Other Considerations

    \n

    For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI.

    \n" }, "implications": [ "CYP2C19: Significantly reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events" @@ -783,5 +783,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_codeine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_codeine_and_CYP2D6.json index 0167dd6a6..3355d4213 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_codeine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_codeine_and_CYP2D6.json @@ -755,5 +755,5 @@ "year": 2012 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dapsone_methylene_blue_pegloticase_rasburicase_tafenoquine_toluidine_blue_and_G6PD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dapsone_methylene_blue_pegloticase_rasburicase_tafenoquine_toluidine_blue_and_G6PD.json index 904e53f27..e5c8af275 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dapsone_methylene_blue_pegloticase_rasburicase_tafenoquine_toluidine_blue_and_G6PD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dapsone_methylene_blue_pegloticase_rasburicase_tafenoquine_toluidine_blue_and_G6PD.json @@ -958,5 +958,5 @@ "year": 2014 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S.json deleted file mode 100644 index 7501e45f5..000000000 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S.json +++ /dev/null @@ -1,488 +0,0 @@ -{ - "guideline": { - "id": "PA166180457", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S", - "source": "CPIC", - "version": 15, - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166180457", - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - }, - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - }, - { - "id": "PA449845", - "name": "halothane", - "symbol": null - }, - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - }, - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - }, - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - }, - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "relatedGenes": [ - { - "id": "PA85", - "name": "calcium voltage-gated channel subunit alpha1 S", - "symbol": "CACNA1S" - } - ], - "recommendation": true - }, - "recommendations": [ - { - "id": "PA166304126", - "name": "Recommendation Annotation PA166304126", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "text": { - "id": 1452117285, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304073", - "name": "Recommendation Annotation PA166304073", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117232, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304121", - "name": "Recommendation Annotation PA166304121", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - } - ], - "text": { - "id": 1452117280, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304101", - "name": "Recommendation Annotation PA166304101", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - } - ], - "text": { - "id": 1452117261, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304070", - "name": "Recommendation Annotation PA166304070", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - } - ], - "text": { - "id": 1452117229, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304123", - "name": "Recommendation Annotation PA166304123", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117282, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304074", - "name": "Recommendation Annotation PA166304074", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117233, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304122", - "name": "Recommendation Annotation PA166304122", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - } - ], - "text": { - "id": 1452117281, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304084", - "name": "Recommendation Annotation PA166304084", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - } - ], - "text": { - "id": 1452117243, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304071", - "name": "Recommendation Annotation PA166304071", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - } - ], - "text": { - "id": 1452117230, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304124", - "name": "Recommendation Annotation PA166304124", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117283, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304072", - "name": "Recommendation Annotation PA166304072", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449845", - "name": "halothane", - "symbol": null - } - ], - "text": { - "id": 1452117231, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675)." - ], - "lookupKey": { - "CACNA1S": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304125", - "name": "Recommendation Annotation PA166304125", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "text": { - "id": 1452117284, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - }, - { - "id": "PA166304085", - "name": "Recommendation Annotation PA166304085", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449845", - "name": "halothane", - "symbol": null - } - ], - "text": { - "id": 1452117244, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "CACNA1S": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": false - } - ], - "citations": [ - { - "pmid": "30499100", - "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", - "authors": [ - "Gonsalves Stephen G", - "Dirksen Robert T", - "Sangkuhl Katrin", - "Pulk Rebecca", - "Alvarellos Maria", - "Vo Teresa", - "Hikino Keiko", - "Roden Dan", - "Klein Teri E", - "Poler S Mark", - "Patel Sephalie", - "Caudle Kelly E", - "Gordon Ronald", - "Brandom Barbara", - "Biesecker Leslie G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2019 - } - ], - "version": "2023-10-05-00-25" -} \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S_RYR1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S_RYR1.json new file mode 100644 index 000000000..8aa3440e1 --- /dev/null +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_CACNA1S_RYR1.json @@ -0,0 +1,1767 @@ +{ + "guideline": { + "id": "PA166303941", + "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1", + "source": "CPIC", + "version": 2, + "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + }, + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + }, + { + "id": "PA449845", + "name": "halothane", + "symbol": null + }, + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + }, + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + }, + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + }, + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "relatedGenes": [ + { + "id": "PA85", + "name": "calcium voltage-gated channel subunit alpha1 S", + "symbol": "CACNA1S" + }, + { + "id": "PA34896", + "name": "ryanodine receptor 1", + "symbol": "RYR1" + } + ], + "recommendation": true + }, + "recommendations": [ + { + "id": "PA166323362", + "name": "Recommendation Annotation PA166323362", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326461, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323401", + "name": "Recommendation Annotation PA166323401", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326500, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323421", + "name": "Recommendation Annotation PA166323421", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326520, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323321", + "name": "Recommendation Annotation PA166323321", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326420, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323301", + "name": "Recommendation Annotation PA166323301", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326400, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323361", + "name": "Recommendation Annotation PA166323361", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326460, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323381", + "name": "Recommendation Annotation PA166323381", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326480, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323341", + "name": "Recommendation Annotation PA166323341", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA164749136", + "name": "desflurane", + "symbol": null + } + ], + "text": { + "id": 1452326440, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323447", + "name": "Recommendation Annotation PA166323447", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326546, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323448", + "name": "Recommendation Annotation PA166323448", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326547, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323441", + "name": "Recommendation Annotation PA166323441", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326540, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323442", + "name": "Recommendation Annotation PA166323442", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326541, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323443", + "name": "Recommendation Annotation PA166323443", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326542, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323444", + "name": "Recommendation Annotation PA166323444", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326543, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323445", + "name": "Recommendation Annotation PA166323445", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326544, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323446", + "name": "Recommendation Annotation PA166323446", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449461", + "name": "enflurane", + "symbol": null + } + ], + "text": { + "id": 1452326545, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323450", + "name": "Recommendation Annotation PA166323450", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326549, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323461", + "name": "Recommendation Annotation PA166323461", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326560, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323462", + "name": "Recommendation Annotation PA166323462", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326561, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323451", + "name": "Recommendation Annotation PA166323451", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326550, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323463", + "name": "Recommendation Annotation PA166323463", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326562, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323449", + "name": "Recommendation Annotation PA166323449", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326548, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323482", + "name": "Recommendation Annotation PA166323482", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326581, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323481", + "name": "Recommendation Annotation PA166323481", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA449845", + "name": "halothane", + "symbol": null + } + ], + "text": { + "id": 1452326580, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323522", + "name": "Recommendation Annotation PA166323522", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326641, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323523", + "name": "Recommendation Annotation PA166323523", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326642, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323501", + "name": "Recommendation Annotation PA166323501", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326620, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323521", + "name": "Recommendation Annotation PA166323521", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326640, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323527", + "name": "Recommendation Annotation PA166323527", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326646, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323526", + "name": "Recommendation Annotation PA166323526", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326645, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323524", + "name": "Recommendation Annotation PA166323524", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326643, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323525", + "name": "Recommendation Annotation PA166323525", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450106", + "name": "isoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326644, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323534", + "name": "Recommendation Annotation PA166323534", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326653, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323533", + "name": "Recommendation Annotation PA166323533", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326652, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323532", + "name": "Recommendation Annotation PA166323532", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326651, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323529", + "name": "Recommendation Annotation PA166323529", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326648, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323531", + "name": "Recommendation Annotation PA166323531", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326650, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323528", + "name": "Recommendation Annotation PA166323528", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326647, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323530", + "name": "Recommendation Annotation PA166323530", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326649, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323535", + "name": "Recommendation Annotation PA166323535", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA450434", + "name": "methoxyflurane", + "symbol": null + } + ], + "text": { + "id": 1452326654, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323539", + "name": "Recommendation Annotation PA166323539", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326658, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323538", + "name": "Recommendation Annotation PA166323538", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326657, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323541", + "name": "Recommendation Annotation PA166323541", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326660, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323562", + "name": "Recommendation Annotation PA166323562", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326681, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323540", + "name": "Recommendation Annotation PA166323540", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326659, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323537", + "name": "Recommendation Annotation PA166323537", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326656, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323561", + "name": "Recommendation Annotation PA166323561", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326680, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323536", + "name": "Recommendation Annotation PA166323536", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451341", + "name": "sevoflurane", + "symbol": null + } + ], + "text": { + "id": 1452326655, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323582", + "name": "Recommendation Annotation PA166323582", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326701, + "html": "

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    Based on RYR1 status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323583", + "name": "Recommendation Annotation PA166323583", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326702, + "html": "

    No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "No Result" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323584", + "name": "Recommendation Annotation PA166323584", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326703, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "RYR1: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323564", + "name": "Recommendation Annotation PA166323564", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326683, + "html": "

    Based on CACNA1S status, halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323585", + "name": "Recommendation Annotation PA166323585", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326704, + "html": "

    No RYR1 genotype is available. Based on CACNA1S status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "CACNA1S: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "No Result", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323563", + "name": "Recommendation Annotation PA166323563", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326682, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 or CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine" + ], + "lookupKey": { + "RYR1": "Malignant Hyperthermia Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323586", + "name": "Recommendation Annotation PA166323586", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326705, + "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" + }, + "implications": [ + "These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Uncertain Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": false, + "otherPrescribingGuidance": true + }, + { + "id": "PA166323581", + "name": "Recommendation Annotation PA166323581", + "population": "general", + "classification": { + "term": "Strong", + "termId": "guidelineStrength:981501930" + }, + "relatedChemicals": [ + { + "id": "PA451522", + "name": "succinylcholine", + "symbol": null + } + ], + "text": { + "id": 1452326700, + "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" + }, + "implications": [ + "CACNA1S: Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine, RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)." + ], + "lookupKey": { + "RYR1": "Uncertain Susceptibility", + "CACNA1S": "Malignant Hyperthermia Susceptibility" + }, + "dosingInformation": false, + "alternateDrugAvailable": true, + "otherPrescribingGuidance": true + } + ], + "citations": [ + { + "pmid": "30499100", + "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", + "authors": [ + "Gonsalves Stephen G", + "Dirksen Robert T", + "Sangkuhl Katrin", + "Pulk Rebecca", + "Alvarellos Maria", + "Vo Teresa", + "Hikino Keiko", + "Roden Dan", + "Klein Teri E", + "Poler S Mark", + "Patel Sephalie", + "Caudle Kelly E", + "Gordon Ronald", + "Brandom Barbara", + "Biesecker Leslie G" + ], + "journal": "Clinical pharmacology and therapeutics", + "year": 2019 + } + ], + "version": "2023-12-19-10-38" +} \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_RYR1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_RYR1.json deleted file mode 100644 index 84cc75802..000000000 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desflurane_enflurane_halothane_isoflurane_methoxyflurane_sevoflurane_succinylcholine_and_RYR1.json +++ /dev/null @@ -1,488 +0,0 @@ -{ - "guideline": { - "id": "PA166303941", - "name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and RYR1", - "source": "CPIC", - "version": 1, - "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941", - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - }, - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - }, - { - "id": "PA449845", - "name": "halothane", - "symbol": null - }, - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - }, - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - }, - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - }, - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "relatedGenes": [ - { - "id": "PA34896", - "name": "ryanodine receptor 1", - "symbol": "RYR1" - } - ], - "recommendation": true - }, - "recommendations": [ - { - "id": "PA166304082", - "name": "Recommendation Annotation PA166304082", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117241, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304064", - "name": "Recommendation Annotation PA166304064", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449845", - "name": "halothane", - "symbol": null - } - ], - "text": { - "id": 1452117223, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304068", - "name": "Recommendation Annotation PA166304068", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - } - ], - "text": { - "id": 1452117227, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304083", - "name": "Recommendation Annotation PA166304083", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "text": { - "id": 1452117242, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304061", - "name": "Recommendation Annotation PA166304061", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - } - ], - "text": { - "id": 1452117220, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304069", - "name": "Recommendation Annotation PA166304069", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451522", - "name": "succinylcholine", - "symbol": null - } - ], - "text": { - "id": 1452117228, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304065", - "name": "Recommendation Annotation PA166304065", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117224, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304021", - "name": "Recommendation Annotation PA166304021", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - } - ], - "text": { - "id": 1452117180, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304062", - "name": "Recommendation Annotation PA166304062", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449461", - "name": "enflurane", - "symbol": null - } - ], - "text": { - "id": 1452117221, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304066", - "name": "Recommendation Annotation PA166304066", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450106", - "name": "isoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117225, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304081", - "name": "Recommendation Annotation PA166304081", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA451341", - "name": "sevoflurane", - "symbol": null - } - ], - "text": { - "id": 1452117240, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304063", - "name": "Recommendation Annotation PA166304063", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA449845", - "name": "halothane", - "symbol": null - } - ], - "text": { - "id": 1452117222, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304067", - "name": "Recommendation Annotation PA166304067", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA450434", - "name": "methoxyflurane", - "symbol": null - } - ], - "text": { - "id": 1452117226, - "html": "

    Halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine are relatively contraindicated in persons with malignant hyperthermia susceptibility (MHS). They should not be used, except in extraordinary circumstances where the benefits outweigh the risks. In general, alternative anesthetics are widely available and effective in patients with MHS.

    \n

    A list of unsafe halogenated volatile anesthetics or depolarizing muscle relaxants and alternative anesthetics can be found at http://www.mhaus.org/healthcare-professionals/be-prepared/safe-and-unsafe-anesthetics. Individuals who have biallelic (homozygous or compound heterozygous) pathogenic variants in RYR1 generally will have autosomal recessive myopathies and should be managed according to the standard of care for those disorders. Although some may, indeed, have susceptibility to anesthetic agents, the recommendations described here cannot adequately address such patients, and they should be managed by a physician who is knowledgeable regarding those disorders.

    \n" - }, - "implications": [ - "Individuals are at increased risk of developing malignant hyperthermia if administered halogenated volatile anesthetics or the depolarizing muscle relaxant succinylcholine." - ], - "lookupKey": { - "RYR1": "Malignant Hyperthermia Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": true, - "otherPrescribingGuidance": true - }, - { - "id": "PA166304041", - "name": "Recommendation Annotation PA166304041", - "population": "general", - "classification": { - "term": "Strong", - "termId": "guidelineStrength:981501930" - }, - "relatedChemicals": [ - { - "id": "PA164749136", - "name": "desflurane", - "symbol": null - } - ], - "text": { - "id": 1452117200, - "html": "

    Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.

    \n" - }, - "implications": [ - "These results do not eliminate the chance that this patient is susceptible to Malignant Hyperthermia. The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID: 28902675). A negative or inconclusive genetic test cannot be assumed to indicate normal RYR1-related phenotype and should be interpreted in context of clinical findings, family history and other laboratory data." - ], - "lookupKey": { - "RYR1": "Uncertain Susceptibility" - }, - "dosingInformation": false, - "alternateDrugAvailable": false, - "otherPrescribingGuidance": true - } - ], - "citations": [ - { - "pmid": "30499100", - "title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.", - "authors": [ - "Gonsalves Stephen G", - "Dirksen Robert T", - "Sangkuhl Katrin", - "Pulk Rebecca", - "Alvarellos Maria", - "Vo Teresa", - "Hikino Keiko", - "Roden Dan", - "Klein Teri E", - "Poler S Mark", - "Patel Sephalie", - "Caudle Kelly E", - "Gordon Ronald", - "Brandom Barbara", - "Biesecker Leslie G" - ], - "journal": "Clinical pharmacology and therapeutics", - "year": 2019 - } - ], - "version": "2023-10-05-00-25" -} \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desipramine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desipramine_and_CYP2D6.json index aab081576..83b7e6a55 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desipramine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_desipramine_and_CYP2D6.json @@ -728,5 +728,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dexlansoprazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dexlansoprazole_and_CYP2C19.json index 6bfbe1bbf..e2d960cb7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dexlansoprazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_dexlansoprazole_and_CYP2C19.json @@ -285,5 +285,5 @@ "year": 2021 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_doxepin_and_CYP2C19_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_doxepin_and_CYP2C19_CYP2D6.json index b438c3f14..f1d96efcb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_doxepin_and_CYP2C19_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_doxepin_and_CYP2C19_CYP2D6.json @@ -6682,5 +6682,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_efavirenz_and_CYP2B6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_efavirenz_and_CYP2B6.json index f630d2c57..20ba57e13 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_efavirenz_and_CYP2B6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_efavirenz_and_CYP2B6.json @@ -224,5 +224,5 @@ "year": 2019 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluorouracil_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluorouracil_and_DPYD.json index 5b09c985f..7ef488b7d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluorouracil_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluorouracil_and_DPYD.json @@ -204,5 +204,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvastatin_and_CYP2C9_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvastatin_and_CYP2C9_SLCO1B1.json index 1569bed8f..7abb9cccb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvastatin_and_CYP2C9_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvastatin_and_CYP2C9_SLCO1B1.json @@ -3,7 +3,7 @@ "id": "PA166262341", "name": "Annotation of CPIC Guideline for fluvastatin and CYP2C9, SLCO1B1", "source": "CPIC", - "version": 5, + "version": 6, "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262341", "relatedChemicals": [ { @@ -1547,5 +1547,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvoxamine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvoxamine_and_CYP2D6.json index dcf14857c..c8448e325 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvoxamine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fluvoxamine_and_CYP2D6.json @@ -738,5 +738,5 @@ "year": 2015 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fosphenytoin_phenytoin_and_CYP2C9_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fosphenytoin_phenytoin_and_CYP2C9_HLA_B.json index 4fd6c4ebb..0663d583c 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fosphenytoin_phenytoin_and_CYP2C9_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_fosphenytoin_phenytoin_and_CYP2C9_HLA_B.json @@ -2555,5 +2555,5 @@ "year": 2014 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_hydrocodone_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_hydrocodone_and_CYP2D6.json index 745a2998f..a1920b1ae 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_hydrocodone_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_hydrocodone_and_CYP2D6.json @@ -716,5 +716,5 @@ "year": 2021 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_imipramine_and_CYP2C19_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_imipramine_and_CYP2C19_CYP2D6.json index 7a4a22249..bb8978751 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_imipramine_and_CYP2C19_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_imipramine_and_CYP2C19_CYP2D6.json @@ -6682,5 +6682,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ivacaftor_and_CFTR.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ivacaftor_and_CFTR.json index 5772b3353..0d6cf4de2 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ivacaftor_and_CFTR.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ivacaftor_and_CFTR.json @@ -100,5 +100,5 @@ "year": 2014 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lansoprazole_omeprazole_pantoprazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lansoprazole_omeprazole_pantoprazole_and_CYP2C19.json index 131b9063c..4a623e880 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lansoprazole_omeprazole_pantoprazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lansoprazole_omeprazole_pantoprazole_and_CYP2C19.json @@ -759,5 +759,5 @@ "year": 2021 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lovastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lovastatin_and_SLCO1B1.json index 24d6e19dc..d30cf317e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lovastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_lovastatin_and_SLCO1B1.json @@ -228,5 +228,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_meloxicam_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_meloxicam_and_CYP2C9.json index 424f924b8..39381ac83 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_meloxicam_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_meloxicam_and_CYP2C9.json @@ -216,5 +216,5 @@ "year": 2020 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_mercaptopurine_and_NUDT15_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_mercaptopurine_and_NUDT15_TPMT.json index d71f9dd5e..7c359012e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_mercaptopurine_and_NUDT15_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_mercaptopurine_and_NUDT15_TPMT.json @@ -1178,5 +1178,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nitrofurantoin_and_G6PD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nitrofurantoin_and_G6PD.json index 8bb560b78..348932ed4 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nitrofurantoin_and_G6PD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nitrofurantoin_and_G6PD.json @@ -169,5 +169,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nortriptyline_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nortriptyline_and_CYP2D6.json index d288e2a47..ed2847860 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nortriptyline_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_nortriptyline_and_CYP2D6.json @@ -728,5 +728,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ondansetron_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ondansetron_and_CYP2D6.json index 1a4b84a5d..cc2a76af7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ondansetron_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_ondansetron_and_CYP2D6.json @@ -706,5 +706,5 @@ "year": 2017 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_oxcarbazepine_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_oxcarbazepine_and_HLA_B.json index 59f3ee5b0..e6ce6c0a7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_oxcarbazepine_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_oxcarbazepine_and_HLA_B.json @@ -163,5 +163,5 @@ "year": 2018 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_paroxetine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_paroxetine_and_CYP2D6.json index 4078b11ba..f3d91ad1c 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_paroxetine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_paroxetine_and_CYP2D6.json @@ -738,5 +738,5 @@ "year": 2015 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_peginterferon_alfa_2a_peginterferon_alfa_2b_ribavirin_and_IFNL3.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_peginterferon_alfa_2a_peginterferon_alfa_2b_ribavirin_and_IFNL3.json index 98de4910b..e678af704 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_peginterferon_alfa_2a_peginterferon_alfa_2b_ribavirin_and_IFNL3.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_peginterferon_alfa_2a_peginterferon_alfa_2b_ribavirin_and_IFNL3.json @@ -51,5 +51,5 @@ "year": 2014 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_piroxicam_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_piroxicam_and_CYP2C9.json index 0d0f07e90..48728bd5f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_piroxicam_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_piroxicam_and_CYP2C9.json @@ -216,5 +216,5 @@ "year": 2020 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pitavastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pitavastatin_and_SLCO1B1.json index 924272b51..e559a504f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pitavastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pitavastatin_and_SLCO1B1.json @@ -228,5 +228,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pravastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pravastatin_and_SLCO1B1.json index 97a1e5c8c..6ace0c6a8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pravastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_pravastatin_and_SLCO1B1.json @@ -228,5 +228,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_primaquine_and_G6PD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_primaquine_and_G6PD.json index 2730b4a59..a1af1b1d1 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_primaquine_and_G6PD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_primaquine_and_G6PD.json @@ -191,5 +191,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_rosuvastatin_and_ABCG2_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_rosuvastatin_and_ABCG2_SLCO1B1.json index 8e26ab35c..ccac5afd7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_rosuvastatin_and_ABCG2_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_rosuvastatin_and_ABCG2_SLCO1B1.json @@ -896,5 +896,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_sertraline_and_CYP2B6_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_sertraline_and_CYP2B6_CYP2C19.json index bf88c0411..5c55dacbc 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_sertraline_and_CYP2B6_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_sertraline_and_CYP2B6_CYP2C19.json @@ -2003,5 +2003,5 @@ "year": 2015 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_simvastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_simvastatin_and_SLCO1B1.json index b1d3d406c..283bd30ca 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_simvastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_simvastatin_and_SLCO1B1.json @@ -275,5 +275,5 @@ "year": 2012 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tacrolimus_and_CYP3A5.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tacrolimus_and_CYP3A5.json index 8f9208eaa..6656e7c07 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tacrolimus_and_CYP3A5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tacrolimus_and_CYP3A5.json @@ -194,5 +194,5 @@ "year": 2015 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tamoxifen_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tamoxifen_and_CYP2D6.json index d79eb76ad..5161a4d14 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tamoxifen_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tamoxifen_and_CYP2D6.json @@ -710,5 +710,5 @@ "year": 2018 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tenoxicam_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tenoxicam_and_CYP2C9.json index ddba3fdf4..5d07bce9c 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tenoxicam_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tenoxicam_and_CYP2C9.json @@ -216,5 +216,5 @@ "year": 2020 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_thioguanine_and_NUDT15_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_thioguanine_and_NUDT15_TPMT.json index 7817382b9..37cbcf6b0 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_thioguanine_and_NUDT15_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_thioguanine_and_NUDT15_TPMT.json @@ -1178,5 +1178,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tramadol_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tramadol_and_CYP2D6.json index 8125b56d3..780cca914 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tramadol_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tramadol_and_CYP2D6.json @@ -716,5 +716,5 @@ "year": 2021 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_trimipramine_and_CYP2C19_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_trimipramine_and_CYP2C19_CYP2D6.json index ae7d84a41..82f471a82 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_trimipramine_and_CYP2C19_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_trimipramine_and_CYP2C19_CYP2D6.json @@ -6682,5 +6682,5 @@ "year": 2013 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tropisetron_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tropisetron_and_CYP2D6.json index 30db1d3ed..e7a492b09 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tropisetron_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_tropisetron_and_CYP2D6.json @@ -706,5 +706,5 @@ "year": 2017 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_venlafaxine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_venlafaxine_and_CYP2D6.json index da45ee521..6510bf9b4 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_venlafaxine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_venlafaxine_and_CYP2D6.json @@ -3,7 +3,7 @@ "id": "PA166288201", "name": "Annotation of CPIC Guideline for venlafaxine and CYP2D6", "source": "CPIC", - "version": 1, + "version": 2, "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288201", "relatedChemicals": [ { @@ -713,5 +713,5 @@ "year": 2023 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_voriconazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_voriconazole_and_CYP2C19.json index 3adc89409..ab7372924 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_voriconazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_voriconazole_and_CYP2C19.json @@ -3,7 +3,7 @@ "id": "PA166161537", "name": "Annotation of CPIC Guideline for voriconazole and CYP2C19", "source": "CPIC", - "version": 37, + "version": 38, "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161537", "relatedChemicals": [ { @@ -510,5 +510,5 @@ "year": 2017 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_vortioxetine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_vortioxetine_and_CYP2D6.json index 1169a0346..635ba63bd 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_vortioxetine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_vortioxetine_and_CYP2D6.json @@ -713,5 +713,5 @@ "year": 2023 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_warfarin_and_CYP2C9_CYP4F2_VKORC1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_warfarin_and_CYP2C9_CYP4F2_VKORC1.json index c00bf657c..b57912cdf 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_warfarin_and_CYP2C9_CYP4F2_VKORC1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/CPIC_warfarin_and_CYP2C9_CYP4F2_VKORC1.json @@ -3,7 +3,7 @@ "id": "PA166104949", "name": "Annotation of CPIC Guideline for warfarin and CYP2C9, CYP4F2, VKORC1", "source": "CPIC", - "version": 42, + "version": 43, "url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104949", "relatedChemicals": [ { @@ -80,5 +80,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_abacavir_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_abacavir_and_HLA_B.json index 0afeb8551..021a08dad 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_abacavir_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_abacavir_and_HLA_B.json @@ -76,5 +76,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_acenocoumarol_and_VKORC1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_acenocoumarol_and_VKORC1.json index 48bb3b740..6111a6333 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_acenocoumarol_and_VKORC1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_acenocoumarol_and_VKORC1.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_ABCG2.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_ABCG2.json index a47470460..84ec47cf5 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_ABCG2.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_ABCG2.json @@ -135,5 +135,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_HLA_B.json index c0d817a6a..7e79e023d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_allopurinol_and_HLA_B.json @@ -77,5 +77,5 @@ "year": 2022 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_amitriptyline_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_amitriptyline_and_CYP2D6.json index c7c20f15f..7ae4410af 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_amitriptyline_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_amitriptyline_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_aripiprazole_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_aripiprazole_and_CYP2D6.json index 448737513..1f7cc291b 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_aripiprazole_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_aripiprazole_and_CYP2D6.json @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atomoxetine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atomoxetine_and_CYP2D6.json index e36db5003..77e899cef 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atomoxetine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atomoxetine_and_CYP2D6.json @@ -567,7 +567,7 @@ "Risselada Arne" ], "journal": "European journal of human genetics : EJHG", - "year": 2022 + "year": 2023 }, { "pmid": "21412232", @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atorvastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atorvastatin_and_SLCO1B1.json index df8d11ddb..1e02ef347 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atorvastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_atorvastatin_and_SLCO1B1.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_NUDT15.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_NUDT15.json index ee047aac5..bd6980fb4 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_NUDT15.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_NUDT15.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_TPMT.json index 6d59c943b..dcf0360a6 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_azathioprine_and_TPMT.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_brexpiprazole_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_brexpiprazole_and_CYP2D6.json index 9847d927d..4159b6b7d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_brexpiprazole_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_brexpiprazole_and_CYP2D6.json @@ -570,5 +570,5 @@ "year": 2023 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_capecitabine_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_capecitabine_and_DPYD.json index 71fa450fa..16adb78aa 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_capecitabine_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_capecitabine_and_DPYD.json @@ -244,5 +244,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_A.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_A.json index 00e62ae2b..18c94e6eb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_A.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_A.json @@ -53,5 +53,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_B.json index 0b6c3e495..608d2606a 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_carbamazepine_and_HLA_B.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_citalopram_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_citalopram_and_CYP2C19.json index f2949db75..cd7310076 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_citalopram_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_citalopram_and_CYP2C19.json @@ -186,5 +186,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2C19.json index 5004b5520..a77639052 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2C19.json @@ -140,5 +140,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2D6.json index 80673055d..93b94a7d8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clomipramine_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clopidogrel_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clopidogrel_and_CYP2C19.json index 820da538c..d9d5ba123 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clopidogrel_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_clopidogrel_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_codeine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_codeine_and_CYP2D6.json index 65c8fac37..a2536567a 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_codeine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_codeine_and_CYP2D6.json @@ -591,5 +591,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_doxepin_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_doxepin_and_CYP2D6.json index 9992a4b8e..a54e29790 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_doxepin_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_doxepin_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_efavirenz_and_CYP2B6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_efavirenz_and_CYP2B6.json index a626427e8..e93ce9910 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_efavirenz_and_CYP2B6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_efavirenz_and_CYP2B6.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_eliglustat_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_eliglustat_and_CYP2D6.json index b5138655a..88bdcc707 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_eliglustat_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_eliglustat_and_CYP2D6.json @@ -543,5 +543,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_escitalopram_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_escitalopram_and_CYP2C19.json index 201f3e3f9..2781101df 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_escitalopram_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_escitalopram_and_CYP2C19.json @@ -186,5 +186,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flecainide_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flecainide_and_CYP2D6.json index daf23e3ed..23155fd94 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flecainide_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flecainide_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucloxacillin_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucloxacillin_and_HLA_B.json index d1d481c4b..6ce40f66b 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucloxacillin_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucloxacillin_and_HLA_B.json @@ -53,5 +53,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucytosine_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucytosine_and_DPYD.json index 4db7c5ab2..70240b2c9 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucytosine_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_flucytosine_and_DPYD.json @@ -195,5 +195,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_fluorouracil_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_fluorouracil_and_DPYD.json index 492d038c0..7fc0bbc9a 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_fluorouracil_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_fluorouracil_and_DPYD.json @@ -241,5 +241,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_haloperidol_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_haloperidol_and_CYP2D6.json index 634370abb..c7da02c77 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_haloperidol_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_haloperidol_and_CYP2D6.json @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_hormonal_contraceptives_for_systemic_use_and_F5.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_hormonal_contraceptives_for_systemic_use_and_F5.json index c894fc297..12166338c 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_hormonal_contraceptives_for_systemic_use_and_F5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_hormonal_contraceptives_for_systemic_use_and_F5.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2C19.json index a09897b04..5987a069d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2D6.json index 3be7fa8a9..28afd1a45 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_imipramine_and_CYP2D6.json @@ -566,5 +566,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_irinotecan_and_UGT1A1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_irinotecan_and_UGT1A1.json index 2e6075348..af9c196c9 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_irinotecan_and_UGT1A1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_irinotecan_and_UGT1A1.json @@ -278,5 +278,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lamotrigine_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lamotrigine_and_HLA_B.json index 83ccd9538..c958b51d8 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lamotrigine_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lamotrigine_and_HLA_B.json @@ -82,5 +82,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lansoprazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lansoprazole_and_CYP2C19.json index 9f438fbd0..01761a035 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lansoprazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_lansoprazole_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_NUDT15.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_NUDT15.json index 28c0dfa6f..c85dcd371 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_NUDT15.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_NUDT15.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_TPMT.json index 273d0658c..8500d65c6 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_mercaptopurine_and_TPMT.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_metoprolol_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_metoprolol_and_CYP2D6.json index cdd5212a1..14fecd684 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_metoprolol_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_metoprolol_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_nortriptyline_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_nortriptyline_and_CYP2D6.json index 698a86775..f3c1efc16 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_nortriptyline_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_nortriptyline_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_omeprazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_omeprazole_and_CYP2C19.json index d58bd0443..61fe65dcb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_omeprazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_omeprazole_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_oxcarbazepine_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_oxcarbazepine_and_HLA_B.json index 0530a22c7..c40ec55fb 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_oxcarbazepine_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_oxcarbazepine_and_HLA_B.json @@ -53,5 +53,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pantoprazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pantoprazole_and_CYP2C19.json index 363083be0..fd86ad8e1 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pantoprazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pantoprazole_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_paroxetine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_paroxetine_and_CYP2D6.json index eb55a03c9..7127fb11f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_paroxetine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_paroxetine_and_CYP2D6.json @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenprocoumon_and_VKORC1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenprocoumon_and_VKORC1.json index 4ffa5be5e..a7ccfb7fa 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenprocoumon_and_VKORC1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenprocoumon_and_VKORC1.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_CYP2C9.json index 7c709f6fe..1627882f0 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_CYP2C9.json @@ -292,5 +292,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_HLA_B.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_HLA_B.json index f3064dec1..8a8b00c57 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_HLA_B.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_phenytoin_and_HLA_B.json @@ -53,5 +53,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pimozide_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pimozide_and_CYP2D6.json index 156787fa2..d80c37b3f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pimozide_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_pimozide_and_CYP2D6.json @@ -570,5 +570,5 @@ "year": 2023 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_propafenone_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_propafenone_and_CYP2D6.json index d665750a7..3ec38c4b6 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_propafenone_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_propafenone_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_quetiapine_and_CYP3A4.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_quetiapine_and_CYP3A4.json index fa5415b1c..ef110fc9b 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_quetiapine_and_CYP3A4.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_quetiapine_and_CYP3A4.json @@ -135,5 +135,5 @@ "year": 2023 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_risperidone_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_risperidone_and_CYP2D6.json index 3098424cb..b456efba4 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_risperidone_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_risperidone_and_CYP2D6.json @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_sertraline_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_sertraline_and_CYP2C19.json index 66ef24759..6992b3209 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_sertraline_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_sertraline_and_CYP2C19.json @@ -186,5 +186,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_simvastatin_and_SLCO1B1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_simvastatin_and_SLCO1B1.json index 01d5a461e..a1e454dd7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_simvastatin_and_SLCO1B1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_simvastatin_and_SLCO1B1.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_siponimod_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_siponimod_and_CYP2C9.json index f04058e7c..be05cc34d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_siponimod_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_siponimod_and_CYP2C9.json @@ -269,5 +269,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tacrolimus_and_CYP3A5.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tacrolimus_and_CYP3A5.json index 0d015af5f..eec735e01 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tacrolimus_and_CYP3A5.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tacrolimus_and_CYP3A5.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tamoxifen_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tamoxifen_and_CYP2D6.json index 321f439ab..6c540fdb7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tamoxifen_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tamoxifen_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tegafur_and_DPYD.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tegafur_and_DPYD.json index 492f29cb4..39c72fc2e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tegafur_and_DPYD.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tegafur_and_DPYD.json @@ -241,5 +241,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_NUDT15.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_NUDT15.json index f37cbed0e..ed7189523 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_NUDT15.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_NUDT15.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_TPMT.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_TPMT.json index 45e9eb9c2..0a073eea7 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_TPMT.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_thioguanine_and_TPMT.json @@ -134,5 +134,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tramadol_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tramadol_and_CYP2D6.json index 9759706b8..9f2b0a12f 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tramadol_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_tramadol_and_CYP2D6.json @@ -591,5 +591,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_venlafaxine_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_venlafaxine_and_CYP2D6.json index 2e863ef67..969bbb716 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_venlafaxine_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_venlafaxine_and_CYP2D6.json @@ -569,5 +569,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_voriconazole_and_CYP2C19.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_voriconazole_and_CYP2C19.json index 69ce92155..39542d75d 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_voriconazole_and_CYP2C19.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_voriconazole_and_CYP2C19.json @@ -163,5 +163,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_CYP2C9.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_CYP2C9.json index bb923b6c8..7e9447436 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_CYP2C9.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_CYP2C9.json @@ -269,5 +269,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_VKORC1.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_VKORC1.json index 0e35ca752..095039bfd 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_VKORC1.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_warfarin_and_VKORC1.json @@ -111,5 +111,5 @@ } ], "citations": [], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_zuclopenthixol_and_CYP2D6.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_zuclopenthixol_and_CYP2D6.json index 4467f8c91..28c7955c6 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_zuclopenthixol_and_CYP2D6.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/guidelines/DPWG_zuclopenthixol_and_CYP2D6.json @@ -592,5 +592,5 @@ "year": 2011 } ], - "version": "2023-10-05-00-25" + "version": "2023-12-19-10-38" } \ No newline at end of file diff --git a/src/main/resources/org/pharmgkb/pharmcat/reporter/messages.json b/src/main/resources/org/pharmgkb/pharmcat/reporter/messages.json index 1304442b9..342f4be7e 100644 --- a/src/main/resources/org/pharmgkb/pharmcat/reporter/messages.json +++ b/src/main/resources/org/pharmgkb/pharmcat/reporter/messages.json @@ -1522,7 +1522,7 @@ "rule_name": "Malignant Hyperthermia Susceptibility warning", "version": "2", "matches": { - "gene": null, + "gene": "RYR1", "hapsCalled": [], "hapsMissing": [], "variantsMissing": [], @@ -1539,7 +1539,7 @@ ] }, "exception_type": "note", - "message": "If the summary table (Section I) includes Malignant Hyperthermia Susceptibility as phenotype for either RYR1 or CACNA1S, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility." + "message": "If the RYR1 genotype is “not called”, please refer to the RYR1 gene table in section 3 for the variants included in the input VCF file. In case one or more variant(s) with “Malignant Hyperthermia associated” function are present, please refer to the guideline publication PMID:30499100 since halogenated volatile anesthetics or depolarizing muscle relaxants succinylcholine are relatively contraindicated in persons with Malignant Hyperthermia Susceptibility. " }, { "rule_name": "pcat-dpyd-hapB3-exonic-only", diff --git a/src/test/java/org/pharmgkb/pharmcat/PipelineTest.java b/src/test/java/org/pharmgkb/pharmcat/PipelineTest.java index 560759e62..65d6399ed 100644 --- a/src/test/java/org/pharmgkb/pharmcat/PipelineTest.java +++ b/src/test/java/org/pharmgkb/pharmcat/PipelineTest.java @@ -366,7 +366,7 @@ void testUndocumentedVariationsWithTreatAsReference(TestInfo testInfo) throws Ex PipelineWrapper testWrapper = new PipelineWrapper(testInfo, false); testWrapper.getVcfBuilder() .allowUnknownAllele() - .variation("RYR1", "rs193922753", "G", "A") + .variation("RYR1", "rs193922753", "G", "C") .variation("CYP2C19", "rs3758581", "G", "T"); Path vcfFile = testWrapper.execute(null); @@ -388,15 +388,15 @@ void testUndocumentedVariationsWithTreatAsReferenceAndCombo(TestInfo testInfo) t PipelineWrapper testWrapper = new PipelineWrapper(testInfo, true, false, false); testWrapper.getVcfBuilder() .allowUnknownAllele() - .variation("RYR1", "rs193922753", "G", "A"); + .variation("RYR1", "rs193922753", "G", "C"); Path vcfFile = testWrapper.execute(null); // becomes Reference and custom snp because combo is enabled - List expectedCalls = List.of("g.38444212G>A (heterozygous)"); + List expectedCalls = List.of("g.38444212G>C (heterozygous)"); testWrapper.testCalledByMatcher("RYR1"); testWrapper.testSourceDiplotypes(DataSource.CPIC, "RYR1", expectedCalls); - testWrapper.testRecommendedDiplotypes(DataSource.CPIC, "RYR1", List.of(TextConstants.REFERENCE, "g.38444212G>A")); + testWrapper.testRecommendedDiplotypes(DataSource.CPIC, "RYR1", List.of(TextConstants.REFERENCE, "g.38444212G>C")); Document document = readHtmlReport(vcfFile); assertNull(document.getElementById("gs-undocVarAsRef-RYR1")); diff --git a/src/test/resources/org/pharmgkb/pharmcat/reference.vcf b/src/test/resources/org/pharmgkb/pharmcat/reference.vcf index 7b977a100..08cd73341 100644 --- a/src/test/resources/org/pharmgkb/pharmcat/reference.vcf +++ b/src/test/resources/org/pharmgkb/pharmcat/reference.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##source=PharmCAT allele definitions -##fileDate=2023-09-27T19:48:25-07:00 +##fileDate=2023-12-19T08:54:58.431-08:00 ##contig= ##contig= ##contig= @@ -158,7 +158,7 @@ chr7 99665212 rs10264272 C T . PASS PX=CYP3A5 GT 0/0 chr7 99672916 rs776746 T C . PASS PX=CYP3A5 GT 0/0 chr7 99676198 rs55817950 G A . PASS PX=CYP3A5 GT 0/0 chr7 99758183 rs67666821 G GT . PASS PX=CYP3A4 GT 0/0 -chr7 99758228 . T A . PASS PX=CYP3A4 GT 0/0 +chr7 99758228 rs1584538410 T A . PASS PX=CYP3A4 GT 0/0 chr7 99760836 rs4986913 G A . PASS PX=CYP3A4 GT 0/0 chr7 99760901 rs4986910 A G . PASS PX=CYP3A4 GT 0/0 chr7 99760956 rs774109750 T C . PASS PX=CYP3A4 GT 0/0 @@ -415,50 +415,319 @@ chr19 15897466 rs201380574 C T . PASS PX=CYP4F2 GT 0/0 chr19 15897473 rs115517770 G A . PASS PX=CYP4F2 GT 0/0 chr19 15897566 rs114099324 C G . PASS PX=CYP4F2 GT 0/0 chr19 15897578 rs3093105 A C . PASS PX=CYP4F2 GT 0/0 +chr19 38433867 rs193922744 T G . PASS PX=RYR1 GT 0/0 +chr19 38440747 rs193922745 CGAT C . PASS PX=RYR1 GT 0/0 +chr19 38440796 rs193922746 A G . PASS PX=RYR1 GT 0/0 chr19 38440802 rs193922747 T C . PASS PX=RYR1 GT 0/0 +chr19 38440818 . G C . PASS PX=RYR1 GT 0/0 chr19 38440829 rs193922748 C T . PASS PX=RYR1 GT 0/0 +chr19 38440830 rs139161723 G A . PASS PX=RYR1 GT 0/0 +chr19 38440851 rs193922749 C A . PASS PX=RYR1 GT 0/0 +chr19 38442361 rs118192160 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38442373 rs995399438 T C . PASS PX=RYR1 GT 0/0 +chr19 38442395 rs118192113 C A . PASS PX=RYR1 GT 0/0 +chr19 38442434 rs186983396 C T . PASS PX=RYR1 GT 0/0 +chr19 38443790 rs142474192 G A . PASS PX=RYR1 GT 0/0 +chr19 38444179 . C A . PASS PX=RYR1 GT 0/0 +chr19 38444187 rs193922750 C A . PASS PX=RYR1 GT 0/0 +chr19 38444191 rs193922751 G A . PASS PX=RYR1 GT 0/0 +chr19 38444203 rs193922752 A G . PASS PX=RYR1 GT 0/0 chr19 38444211 rs118192161 C T . PASS PX=RYR1 GT 0/0 -chr19 38444212 rs193922753 G T . PASS PX=RYR1 GT 0/0 +chr19 38444212 rs193922753 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38444217 rs193922754 G A . PASS PX=RYR1 GT 0/0 +chr19 38444220 rs193922755 G A . PASS PX=RYR1 GT 0/0 +chr19 38444221 rs193922756 A G . PASS PX=RYR1 GT 0/0 +chr19 38444250 rs761616815 G A . PASS PX=RYR1 GT 0/0 +chr19 38444252 . G T . PASS PX=RYR1 GT 0/0 +chr19 38444253 rs193922757 C T . PASS PX=RYR1 GT 0/0 +chr19 38444257 . A C,G . PASS PX=RYR1 GT 0/0 +chr19 38444671 rs771058055 G A . PASS PX=RYR1 GT 0/0 +chr19 38446481 rs727504129 C T . PASS PX=RYR1 GT 0/0 +chr19 38446492 rs193922759 G A . PASS PX=RYR1 GT 0/0 +chr19 38446517 rs112596687 T A . PASS PX=RYR1 GT 0/0 +chr19 38446520 rs193922760 A T . PASS PX=RYR1 GT 0/0 chr19 38446710 rs1801086 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38448500 rs752652072 C T . PASS PX=RYR1 GT 0/0 +chr19 38448501 rs193922761 G T . PASS PX=RYR1 GT 0/0 chr19 38448673 rs193922762 C T . PASS PX=RYR1 GT 0/0 +chr19 38448680 . T TGGA . PASS PX=RYR1 GT 0/0 chr19 38448712 rs121918592 G A,C . PASS PX=RYR1 GT 0/0 -chr19 38451842 rs193922764 C T . PASS PX=RYR1 GT 0/0 +chr19 38448715 . G A . PASS PX=RYR1 GT 0/0 +chr19 38448791 rs113332073 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38451785 . C A . PASS PX=RYR1 GT 0/0 +chr19 38451842 rs193922764 C A,G,T . PASS PX=RYR1 GT 0/0 +chr19 38451843 rs193922766 G A,T . PASS PX=RYR1 GT 0/0 chr19 38451850 rs118192116 C G . PASS PX=RYR1 GT 0/0 -chr19 38455359 rs118192162 A C . PASS PX=RYR1 GT 0/0 +chr19 38452985 . C T . PASS PX=RYR1 GT 0/0 +chr19 38452996 rs193922767 G T . PASS PX=RYR1 GT 0/0 +chr19 38455247 rs147723844 A G . PASS PX=RYR1 GT 0/0 +chr19 38455253 . C G . PASS PX=RYR1 GT 0/0 +chr19 38455254 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455269 rs901087791 G A . PASS PX=RYR1 GT 0/0 +chr19 38455347 . T C . PASS PX=RYR1 GT 0/0 +chr19 38455359 rs118192162 A C,G . PASS PX=RYR1 GT 0/0 chr19 38455463 rs111888148 G A . PASS PX=RYR1 GT 0/0 -chr19 38455471 rs193922768 C T . PASS PX=RYR1 GT 0/0 +chr19 38455471 rs193922768 C A,T . PASS PX=RYR1 GT 0/0 chr19 38455472 rs144336148 G A . PASS PX=RYR1 GT 0/0 +chr19 38455489 rs193922769 T C,G . PASS PX=RYR1 GT 0/0 +chr19 38455504 . G T . PASS PX=RYR1 GT 0/0 chr19 38455528 rs193922770 C T . PASS PX=RYR1 GT 0/0 +chr19 38457539 rs118204423 G C . PASS PX=RYR1 GT 0/0 chr19 38457545 rs118192172 C T . PASS PX=RYR1 GT 0/0 chr19 38457546 rs193922772 G T . PASS PX=RYR1 GT 0/0 +chr19 38458175 rs747177274 G C . PASS PX=RYR1 GT 0/0 +chr19 38458247 rs138874610 G A . PASS PX=RYR1 GT 0/0 +chr19 38460461 rs376149732 C T . PASS PX=RYR1 GT 0/0 +chr19 38460551 rs193922775 C T . PASS PX=RYR1 GT 0/0 +chr19 38463499 rs370634440 G A . PASS PX=RYR1 GT 0/0 +chr19 38464649 rs148623597 G A . PASS PX=RYR1 GT 0/0 +chr19 38466144 rs778241277 G A . PASS PX=RYR1 GT 0/0 +chr19 38466216 rs180714609 G A . PASS PX=RYR1 GT 0/0 +chr19 38466315 rs141942845 G A . PASS PX=RYR1 GT 0/0 +chr19 38466347 rs111272095 C T . PASS PX=RYR1 GT 0/0 +chr19 38466386 rs2145447772 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38466392 . G A . PASS PX=RYR1 GT 0/0 +chr19 38467655 rs749040743 G A . PASS PX=RYR1 GT 0/0 +chr19 38469002 rs193922776 C T . PASS PX=RYR1 GT 0/0 +chr19 38469111 rs549201486 C T . PASS PX=RYR1 GT 0/0 +chr19 38469404 . A C . PASS PX=RYR1 GT 0/0 +chr19 38469415 rs936513262 G A . PASS PX=RYR1 GT 0/0 +chr19 38473635 rs34694816 A G . PASS PX=RYR1 GT 0/0 +chr19 38475335 rs137933390 A G . PASS PX=RYR1 GT 0/0 +chr19 38477816 rs145573319 A G . PASS PX=RYR1 GT 0/0 +chr19 38483293 rs146429605 A G . PASS PX=RYR1 GT 0/0 +chr19 38483329 rs754476250 C T . PASS PX=RYR1 GT 0/0 +chr19 38483345 rs151029675 C T . PASS PX=RYR1 GT 0/0 +chr19 38483357 rs193922777 C T . PASS PX=RYR1 GT 0/0 +chr19 38485679 . T C . PASS PX=RYR1 GT 0/0 +chr19 38485688 rs781104539 A G . PASS PX=RYR1 GT 0/0 +chr19 38485691 rs146504767 G A . PASS PX=RYR1 GT 0/0 +chr19 38485787 rs754785770 A G . PASS PX=RYR1 GT 0/0 +chr19 38485838 rs193922781 C T . PASS PX=RYR1 GT 0/0 +chr19 38485841 rs193922782 T G . PASS PX=RYR1 GT 0/0 +chr19 38485972 rs192863857 C T . PASS PX=RYR1 GT 0/0 +chr19 38485996 rs372958050 T C . PASS PX=RYR1 GT 0/0 +chr19 38486015 rs34934920 C T . PASS PX=RYR1 GT 0/0 +chr19 38486095 . A G . PASS PX=RYR1 GT 0/0 +chr19 38486096 rs193922783 T A . PASS PX=RYR1 GT 0/0 +chr19 38490151 rs145801146 C T . PASS PX=RYR1 GT 0/0 +chr19 38490642 . A C . PASS PX=RYR1 GT 0/0 +chr19 38492540 rs35364374 G T . PASS PX=RYR1 GT 0/0 +chr19 38494379 rs746818096 T A . PASS PX=RYR1 GT 0/0 +chr19 38494381 rs770593660 G C . PASS PX=RYR1 GT 0/0 +chr19 38494426 rs193922788 G C . PASS PX=RYR1 GT 0/0 +chr19 38494454 . G A . PASS PX=RYR1 GT 0/0 +chr19 38494464 rs117886618 C G . PASS PX=RYR1 GT 0/0 +chr19 38494465 rs193922789 G A . PASS PX=RYR1 GT 0/0 +chr19 38494555 rs143398211 G A . PASS PX=RYR1 GT 0/0 chr19 38494564 rs118192175 C T . PASS PX=RYR1 GT 0/0 -chr19 38494565 rs118192163 G A . PASS PX=RYR1 GT 0/0 +chr19 38494565 rs118192163 G A,C,T . PASS PX=RYR1 GT 0/0 chr19 38494579 rs118192176 G A . PASS PX=RYR1 GT 0/0 +chr19 38494621 rs193922790 A T . PASS PX=RYR1 GT 0/0 +chr19 38494625 rs959170123 G A . PASS PX=RYR1 GT 0/0 +chr19 38496265 rs193922791 C T . PASS PX=RYR1 GT 0/0 +chr19 38496278 rs141646642 C G . PASS PX=RYR1 GT 0/0 chr19 38496283 rs118192177 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38496294 rs193922792 G T . PASS PX=RYR1 GT 0/0 +chr19 38496301 rs193922793 T A . PASS PX=RYR1 GT 0/0 +chr19 38496306 rs193922795 G A . PASS PX=RYR1 GT 0/0 +chr19 38496415 rs199870223 C T . PASS PX=RYR1 GT 0/0 +chr19 38496416 rs537994744 G A . PASS PX=RYR1 GT 0/0 +chr19 38496455 . G A . PASS PX=RYR1 GT 0/0 +chr19 38496487 rs763352221 C T . PASS PX=RYR1 GT 0/0 +chr19 38496488 rs140152019 G A . PASS PX=RYR1 GT 0/0 +chr19 38496502 rs917523269 C T . PASS PX=RYR1 GT 0/0 +chr19 38496901 rs193922797 G A . PASS PX=RYR1 GT 0/0 +chr19 38496910 rs118192121 A C . PASS PX=RYR1 GT 0/0 +chr19 38499177 rs34390345 A G . PASS PX=RYR1 GT 0/0 chr19 38499223 rs112563513 G A . PASS PX=RYR1 GT 0/0 +chr19 38499234 . T C . PASS PX=RYR1 GT 0/0 +chr19 38499241 rs147213895 A G . PASS PX=RYR1 GT 0/0 +chr19 38499639 rs193922798 G C . PASS PX=RYR1 GT 0/0 +chr19 38499642 . C A . PASS PX=RYR1 GT 0/0 +chr19 38499643 rs193922799 G A . PASS PX=RYR1 GT 0/0 chr19 38499644 rs121918596 TGGA T . PASS PX=RYR1 GT 0/0 +chr19 38499650 rs193922801 A G . PASS PX=RYR1 GT 0/0 chr19 38499655 rs193922802 G A . PASS PX=RYR1 GT 0/0 +chr19 38499667 . G A . PASS PX=RYR1 GT 0/0 chr19 38499670 rs193922803 C T . PASS PX=RYR1 GT 0/0 +chr19 38499680 . T A . PASS PX=RYR1 GT 0/0 +chr19 38499682 rs769482889 C T . PASS PX=RYR1 GT 0/0 +chr19 38499683 . G A . PASS PX=RYR1 GT 0/0 +chr19 38499691 rs762401851 G A . PASS PX=RYR1 GT 0/0 +chr19 38499692 rs193922804 A G . PASS PX=RYR1 GT 0/0 +chr19 38499696 . C G . PASS PX=RYR1 GT 0/0 +chr19 38499697 rs193922805 T G . PASS PX=RYR1 GT 0/0 +chr19 38499704 rs193922806 C G . PASS PX=RYR1 GT 0/0 +chr19 38499706 rs146306934 G A . PASS PX=RYR1 GT 0/0 +chr19 38499719 . A G . PASS PX=RYR1 GT 0/0 +chr19 38499730 . G A . PASS PX=RYR1 GT 0/0 chr19 38499731 rs193922807 G C . PASS PX=RYR1 GT 0/0 +chr19 38499806 rs976108591 A G . PASS PX=RYR1 GT 0/0 +chr19 38499817 rs111364296 G A . PASS PX=RYR1 GT 0/0 chr19 38499975 rs193922809 G A . PASS PX=RYR1 GT 0/0 +chr19 38499984 rs193922810 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38499985 . A T . PASS PX=RYR1 GT 0/0 chr19 38499993 rs121918593 G A . PASS PX=RYR1 GT 0/0 -chr19 38499997 rs28933396 G A . PASS PX=RYR1 GT 0/0 +chr19 38499997 rs28933396 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500000 . G A . PASS PX=RYR1 GT 0/0 +chr19 38500003 rs193922812 C T . PASS PX=RYR1 GT 0/0 +chr19 38500010 rs193922813 G C . PASS PX=RYR1 GT 0/0 chr19 38500636 rs118192124 C T . PASS PX=RYR1 GT 0/0 +chr19 38500637 rs193922815 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38500640 rs118192123 T C . PASS PX=RYR1 GT 0/0 chr19 38500642 rs193922816 C T . PASS PX=RYR1 GT 0/0 chr19 38500643 rs118192122 G A . PASS PX=RYR1 GT 0/0 chr19 38500654 rs28933397 C T . PASS PX=RYR1 GT 0/0 -chr19 38500655 rs121918594 G A . PASS PX=RYR1 GT 0/0 +chr19 38500655 rs121918594 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38500667 rs551223467 C T . PASS PX=RYR1 GT 0/0 +chr19 38500863 rs193922817 C T . PASS PX=RYR1 GT 0/0 chr19 38500898 rs118192178 C G,T . PASS PX=RYR1 GT 0/0 chr19 38500899 rs193922818 G A . PASS PX=RYR1 GT 0/0 +chr19 38500904 rs193922819 T C . PASS PX=RYR1 GT 0/0 +chr19 38502652 rs767553612 A G . PASS PX=RYR1 GT 0/0 +chr19 38502663 rs193922822 C G,T . PASS PX=RYR1 GT 0/0 +chr19 38502669 . C G . PASS PX=RYR1 GT 0/0 +chr19 38502670 rs751180702 G A . PASS PX=RYR1 GT 0/0 +chr19 38502679 rs193922824 C T . PASS PX=RYR1 GT 0/0 +chr19 38502708 rs748575133 T A . PASS PX=RYR1 GT 0/0 +chr19 38502923 rs914804033 G A,C . PASS PX=RYR1 GT 0/0 +chr19 38504298 . G A . PASS PX=RYR1 GT 0/0 +chr19 38504319 rs193922826 C T . PASS PX=RYR1 GT 0/0 +chr19 38504347 rs781126470 C T . PASS PX=RYR1 GT 0/0 +chr19 38504868 rs193922827 G C . PASS PX=RYR1 GT 0/0 +chr19 38504869 rs112196644 A G . PASS PX=RYR1 GT 0/0 +chr19 38504878 rs193922828 G A . PASS PX=RYR1 GT 0/0 +chr19 38505061 rs193922829 G A . PASS PX=RYR1 GT 0/0 +chr19 38505325 rs147707463 C T . PASS PX=RYR1 GT 0/0 +chr19 38505358 rs35180584 C G . PASS PX=RYR1 GT 0/0 +chr19 38505923 rs193922830 C T . PASS PX=RYR1 GT 0/0 +chr19 38505932 rs768535909 T C . PASS PX=RYR1 GT 0/0 +chr19 38506361 rs193922831 T A . PASS PX=RYR1 GT 0/0 +chr19 38506492 rs112772310 G A . PASS PX=RYR1 GT 0/0 +chr19 38506508 . C G . PASS PX=RYR1 GT 0/0 +chr19 38506865 . C T . PASS PX=RYR1 GT 0/0 +chr19 38507821 . C T . PASS PX=RYR1 GT 0/0 +chr19 38511590 rs147303895 G A . PASS PX=RYR1 GT 0/0 +chr19 38512279 . G A . PASS PX=RYR1 GT 0/0 chr19 38512321 rs193922832 G A . PASS PX=RYR1 GT 0/0 +chr19 38512367 rs193922833 G A . PASS PX=RYR1 GT 0/0 +chr19 38515052 . C T . PASS PX=RYR1 GT 0/0 +chr19 38516167 rs199738299 A G . PASS PX=RYR1 GT 0/0 +chr19 38516181 . T C . PASS PX=RYR1 GT 0/0 +chr19 38516184 rs553055844 G A . PASS PX=RYR1 GT 0/0 +chr19 38516208 . G C . PASS PX=RYR1 GT 0/0 +chr19 38517431 rs375626634 T C . PASS PX=RYR1 GT 0/0 +chr19 38517470 . T C . PASS PX=RYR1 GT 0/0 +chr19 38517521 rs757753317 G A . PASS PX=RYR1 GT 0/0 +chr19 38517523 . T A . PASS PX=RYR1 GT 0/0 +chr19 38517541 rs112151058 G A . PASS PX=RYR1 GT 0/0 +chr19 38519237 rs118204421 C T . PASS PX=RYR1 GT 0/0 +chr19 38519238 rs193922834 G A . PASS PX=RYR1 GT 0/0 +chr19 38519292 rs137932199 G A . PASS PX=RYR1 GT 0/0 +chr19 38519295 rs118192126 A G . PASS PX=RYR1 GT 0/0 +chr19 38519424 . C A . PASS PX=RYR1 GT 0/0 +chr19 38519432 . A T . PASS PX=RYR1 GT 0/0 +chr19 38519447 . A G . PASS PX=RYR1 GT 0/0 +chr19 38525432 . C T . PASS PX=RYR1 GT 0/0 +chr19 38525492 rs143987857 G A . PASS PX=RYR1 GT 0/0 +chr19 38527707 rs55876273 G C . PASS PX=RYR1 GT 0/0 +chr19 38527710 . G C . PASS PX=RYR1 GT 0/0 +chr19 38528372 . G T . PASS PX=RYR1 GT 0/0 +chr19 38529002 . G C . PASS PX=RYR1 GT 0/0 +chr19 38529036 rs193922838 G T . PASS PX=RYR1 GT 0/0 +chr19 38529042 . C T . PASS PX=RYR1 GT 0/0 +chr19 38529048 rs375915752 C T . PASS PX=RYR1 GT 0/0 +chr19 38534726 rs4802584 C G . PASS PX=RYR1 GT 0/0 +chr19 38534774 rs763112609 C T . PASS PX=RYR1 GT 0/0 +chr19 38534775 rs193922839 G A . PASS PX=RYR1 GT 0/0 +chr19 38535197 rs111565359 G A . PASS PX=RYR1 GT 0/0 +chr19 38535998 rs140616359 G A . PASS PX=RYR1 GT 0/0 +chr19 38543365 rs148399313 G A . PASS PX=RYR1 GT 0/0 +chr19 38543380 . A T . PASS PX=RYR1 GT 0/0 +chr19 38543405 rs193922840 T G . PASS PX=RYR1 GT 0/0 +chr19 38543551 rs147136339 A G . PASS PX=RYR1 GT 0/0 +chr19 38543566 . G A . PASS PX=RYR1 GT 0/0 +chr19 38543810 . C T . PASS PX=RYR1 GT 0/0 +chr19 38543816 rs118204422 T C . PASS PX=RYR1 GT 0/0 +chr19 38543821 rs193922842 C G . PASS PX=RYR1 GT 0/0 chr19 38543832 rs193922843 G T . PASS PX=RYR1 GT 0/0 +chr19 38546460 rs755088027 G A . PASS PX=RYR1 GT 0/0 +chr19 38546496 rs773040531 A G . PASS PX=RYR1 GT 0/0 +chr19 38548253 . A T . PASS PX=RYR1 GT 0/0 +chr19 38548259 rs144685735 C T . PASS PX=RYR1 GT 0/0 +chr19 38548287 rs193922844 C A . PASS PX=RYR1 GT 0/0 +chr19 38548380 rs373406011 C T . PASS PX=RYR1 GT 0/0 +chr19 38561140 . G C . PASS PX=RYR1 GT 0/0 +chr19 38561185 rs193922848 A T . PASS PX=RYR1 GT 0/0 +chr19 38561213 . C T . PASS PX=RYR1 GT 0/0 +chr19 38561228 rs201321695 A G . PASS PX=RYR1 GT 0/0 +chr19 38561236 rs193922849 C A . PASS PX=RYR1 GT 0/0 +chr19 38561243 rs193922850 T C . PASS PX=RYR1 GT 0/0 +chr19 38561362 . G A . PASS PX=RYR1 GT 0/0 +chr19 38561363 . G T . PASS PX=RYR1 GT 0/0 +chr19 38561383 rs151119428 G A . PASS PX=RYR1 GT 0/0 +chr19 38565023 . T G . PASS PX=RYR1 GT 0/0 +chr19 38565034 rs193922852 G C,T . PASS PX=RYR1 GT 0/0 +chr19 38565182 rs193922853 A T . PASS PX=RYR1 GT 0/0 +chr19 38565215 rs587784372 C T . PASS PX=RYR1 GT 0/0 +chr19 38565218 rs193922855 C T . PASS PX=RYR1 GT 0/0 +chr19 38566978 rs139647387 A G . PASS PX=RYR1 GT 0/0 +chr19 38566986 rs150396398 G C . PASS PX=RYR1 GT 0/0 +chr19 38570619 rs771741606 C T . PASS PX=RYR1 GT 0/0 +chr19 38570620 rs118192130 G A . PASS PX=RYR1 GT 0/0 +chr19 38570649 . C G . PASS PX=RYR1 GT 0/0 +chr19 38572032 rs143520367 C T . PASS PX=RYR1 GT 0/0 +chr19 38572185 rs118192135 G A . PASS PX=RYR1 GT 0/0 +chr19 38572190 rs756850145 A G . PASS PX=RYR1 GT 0/0 +chr19 38572206 rs193922860 G A . PASS PX=RYR1 GT 0/0 +chr19 38572262 rs759500310 T C . PASS PX=RYR1 GT 0/0 +chr19 38572266 rs193922862 TC CT . PASS PX=RYR1 GT 0/0 +chr19 38573180 rs193922863 C T . PASS PX=RYR1 GT 0/0 +chr19 38573229 rs193922864 T C . PASS PX=RYR1 GT 0/0 +chr19 38573304 rs118192140 C T . PASS PX=RYR1 GT 0/0 +chr19 38575957 rs200766617 G A . PASS PX=RYR1 GT 0/0 +chr19 38577931 . A C . PASS PX=RYR1 GT 0/0 +chr19 38577942 rs193922865 T G . PASS PX=RYR1 GT 0/0 +chr19 38577946 rs193922866 G A . PASS PX=RYR1 GT 0/0 +chr19 38577954 rs193922867 C T . PASS PX=RYR1 GT 0/0 +chr19 38577955 rs193922868 G A . PASS PX=RYR1 GT 0/0 +chr19 38578015 rs768360593 G A . PASS PX=RYR1 GT 0/0 +chr19 38578205 . G T . PASS PX=RYR1 GT 0/0 chr19 38580004 rs118192167 A G . PASS PX=RYR1 GT 0/0 +chr19 38580039 . TT AA . PASS PX=RYR1 GT 0/0 +chr19 38580041 . C A . PASS PX=RYR1 GT 0/0 +chr19 38580066 rs143988412 A T . PASS PX=RYR1 GT 0/0 +chr19 38580075 rs193922873 G A,T . PASS PX=RYR1 GT 0/0 +chr19 38580088 rs193922874 T C . PASS PX=RYR1 GT 0/0 chr19 38580094 rs121918595 C T . PASS PX=RYR1 GT 0/0 chr19 38580114 rs193922876 C T . PASS PX=RYR1 GT 0/0 +chr19 38580126 . C G . PASS PX=RYR1 GT 0/0 chr19 38580370 rs193922878 C G . PASS PX=RYR1 GT 0/0 +chr19 38580382 rs193922879 G A . PASS PX=RYR1 GT 0/0 +chr19 38580397 . G C . PASS PX=RYR1 GT 0/0 chr19 38580403 rs118192168 G A . PASS PX=RYR1 GT 0/0 +chr19 38580416 . C T . PASS PX=RYR1 GT 0/0 +chr19 38580425 rs193922880 C G . PASS PX=RYR1 GT 0/0 +chr19 38580439 rs118192181 C T . PASS PX=RYR1 GT 0/0 chr19 38580440 rs63749869 G A . PASS PX=RYR1 GT 0/0 +chr19 38580485 rs113210953 A G . PASS PX=RYR1 GT 0/0 +chr19 38580497 rs193922883 T C . PASS PX=RYR1 GT 0/0 +chr19 38584974 rs118192151 G A . PASS PX=RYR1 GT 0/0 +chr19 38584976 rs193922888 G A . PASS PX=RYR1 GT 0/0 chr19 38584989 rs118192170 T C . PASS PX=RYR1 GT 0/0 +chr19 38585078 . A G . PASS PX=RYR1 GT 0/0 +chr19 38585099 . G A . PASS PX=RYR1 GT 0/0 +chr19 38585947 rs111657878 T C . PASS PX=RYR1 GT 0/0 +chr19 38585948 rs118192159 C G . PASS PX=RYR1 GT 0/0 +chr19 38585951 rs193922895 C A . PASS PX=RYR1 GT 0/0 +chr19 38585952 rs118192158 G A . PASS PX=RYR1 GT 0/0 +chr19 38585959 rs193922896 G T . PASS PX=RYR1 GT 0/0 +chr19 38586101 rs193922898 T A . PASS PX=RYR1 GT 0/0 +chr19 38586140 rs146876145 C T . PASS PX=RYR1 GT 0/0 +chr19 38586190 . A G . PASS PX=RYR1 GT 0/0 +chr19 38587362 . G C . PASS PX=RYR1 GT 0/0 +chr19 38587363 . G C . PASS PX=RYR1 GT 0/0 chr19 39248147 rs12979860 C T . PASS PX=IFNL3 GT 0/0 chr19 40991224 rs34223104 T C . PASS PX=CYP2B6 GT 0/0 chr19 40991367 rs34883432 A T . PASS PX=CYP2B6 GT 0/0 @@ -510,8 +779,11 @@ chr19 41016810 rs3211371 C A,T . PASS PX=CYP2B6 GT 0/0 chr22 42126578 rs1440526469 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126605 rs568495591 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126611 rs1135840 C G . PASS PX=CYP2D6 GT 0/0 +chr22 42126619 rs28371736 G A . PASS PX=CYP2D6 GT 0/0 +chr22 42126622 rs747998333 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126623 rs75467367 G C . PASS PX=CYP2D6 GT 0/0 chr22 42126624 rs74478221 C T . PASS PX=CYP2D6 GT 0/0 +chr22 42126625 . A G . PASS PX=CYP2D6 GT 0/0 chr22 42126627 . A C . PASS PX=CYP2D6 GT 0/0 chr22 42126633 . C G . PASS PX=CYP2D6 GT 0/0 chr22 42126634 . A C . PASS PX=CYP2D6 GT 0/0 @@ -519,8 +791,10 @@ chr22 42126635 rs766507177 T G . PASS PX=CYP2D6 GT 0/0 chr22 42126636 rs28371735 G A . PASS PX=CYP2D6 GT 0/0 chr22 42126647 rs141756339 C T . PASS PX=CYP2D6 GT 0/0 chr22 42126656 rs765776661 C CCAGTGGGCA . PASS PX=CYP2D6 GT 0/0 +chr22 42126658 rs1135836 A G . PASS PX=CYP2D6 GT 0/0 chr22 42126660 rs1135835 T C . PASS PX=CYP2D6 GT 0/0 chr22 42126663 rs1135833 G C . PASS PX=CYP2D6 GT 0/0 +chr22 42126667 rs1135832 C G . PASS PX=CYP2D6 GT 0/0 chr22 42126681 . G C . PASS PX=CYP2D6 GT 0/0 chr22 42126697 . G T . PASS PX=CYP2D6 GT 0/0 chr22 42126715 rs760940331 C T . PASS PX=CYP2D6 GT 0/0