benchmark.data.hsapiens.randomQueries.yml Maven / Gradle / Ivy

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---
baseQuery :
  summary : true
  exclude : studies

regions :
  - chromosome : "1"
    start : 1
    end : 249250621
  - chromosome : "2"
    start : 1
    end : 135534747
  - chromosome : "3"
    start : 1
    end : 135006516
  - chromosome : "4"
    start : 1
    end : 133851895
  - chromosome : "5"
    start : 1
    end : 115169878
  - chromosome : "6"
    start : 1
    end : 107349540
  - chromosome : "7"
    start : 1
    end : 102531392
  - chromosome : "8"
    start : 1
    end : 90354753
  - chromosome : "9"
    start : 1
    end : 81195210
  - chromosome : "10"
    start : 1
    end : 78077248
  - chromosome : "11"
    start : 1
    end : 59128983
  - chromosome : "12"
    start : 1
    end : 243199373
  - chromosome : "13"
    start : 1
    end : 63025520
  - chromosome : "14"
    start : 1
    end : 48129895
  - chromosome : "15"
    start : 1
    end : 51304566
  - chromosome : "16"
    start : 1
    end : 198022430
  - chromosome : "17"
    start : 1
    end : 191154276
  - chromosome : "18"
    start : 1
    end : 180915260
  - chromosome : "19"
    start : 1
    end : 171115067
  - chromosome : "20"
    start : 1
    end : 159138663
  - chromosome : "21"
    start : 1
    end : 146364022
  - chromosome : "22"
    start : 1
    end : 141213431
  - chromosome : "MT"
    start : 1
    end : 16571
  - chromosome : "X"
    start : 1
    end : 155270560
  - chromosome : "Y"
    start : 1
    end : 59373566

gene :
  - DKFZP434A062
  - GPSM1
  - DNLZ
  - CARD9
  - SNAPC4
  - SDCCAG3
  - PMPCA
  - INPP5E
  - SEC16A
  - C9orf163

  - C19orf12
  - ANKRD27
  - AC008738.1
  - CEBPA
  - CEBPA-AS1
  - CTD-2540B15.11
  - CTD-2540B15.7
  - CTD-2540B15.9
  - FAM187B
  - FAM187B2P
  - ZNF566
  - CTD-2630F21.1
  - ZNF568
  - CTB-60E11.4
  - PLEKHG2
  - RPS16
  - SUPT5H
  - SPTBN4
  - LTBP4
  - CEACAM21
  - CEACAM3
  - PSG3
  - PSG2
  - TEX101
  - PHLDB3
  - ZNF155
  - ZNF221

  - PHBP12
  - MRPS6P2
  - CDKN2C
  - MIR4421
  - C1orf185
  - CFL1P2
  - AL162430.2
  - AL162430.1
  - RP11-296A18.3
  - RNF11
  - RP11-296A18.5
  - RP11-296A18.6
  - TTC39A
  - RP11-275F13.1
  - EPS15
  - RP11-275F13.3
  - RNU6-877P
  - RP11-253A20.1
  - RP11-191G24.1
  - RNU6-1281P
  - CALR4P
  - OSBPL9
  - GAPDHP51
  - SLC25A6P3
  - SNORA26
  - NRD1
  - RP4-657D16.3
  - RP4-657D16.6
  - MIR761
  - TSEN15P2
  - AL589663.1
  - RAB3B
  - RNA5SP48
  - RP11-91A18.1
  - RN7SL290P
  - TXNDC12
  - KTI12
  - RP11-91A18.4
  - TXNDC12-AS1
  - BTF3L4
  - ZFYVE9
  - RN7SL788P
  - RP4-800M22.1
  - RP4-800M22.2
  - PDCL3P6
  - RP4-800M22.4
  - DNAJC19P7
  - ANAPC10P1
  - CC2D1B
  - RP11-155O18.6
  - PLA2G12AP1
  - ORC1
  - PRPF38A
  - ZCCHC11
  - RP11-25O10.2
  - EEF1GP7
  - GPX7
  - FAM159A
  - COA7
  - NDUFS5P3
  - RN7SL62P
  - ZYG11B
  - RNU2-30P
  - RP11-159C21.4
  - RNU6-969P
  - ZYG11A
  - RP4-631H13.2
  - ECHDC2
  - RP4-631H13.6
  - RP4-631H13.4
  - SCP2
  - MIR1273F
  - MIR5095
  - MIR1273G
  - RP4-631H13.5
  - RP11-334A14.2
  - TUBBP10
  - PODN
  - RP11-334A14.5
  - HIGD1AP11
  - SLC1A7
  - RP11-334A14.8
  - CPT2
  - RP5-1024G6.2
  - C1orf123
  - RP5-1024G6.7
  - MAGOH
  - RP5-1024G6.5
  - RP5-1024G6.8
  - LRP8
  - RP4-784A16.1
  - RP4-784A16.2
  - RP4-784A16.3
  - RP4-784A16.4
  - RP4-784A16.5
  - RP11-117D22.1
  - RP11-117D22.2
  - SLC25A3P1
  - DMRTB1
  - GLIS1
  - RNU7-95P
  - NDC1
  - SNORA58
  - AL049745.1
  - RP4-654H19.2
  - YIPF1
  - DIO1
  - HSPB11
  - LRRC42
  - HNRNPA3P12
  - LDLRAD1
  - AL353898.1
  - RP4-758J24.5
  - AL353898.2
  - TMEM59
  - MIR4781
  - TCEANC2
  - RP4-758J24.4
  - AL353898.3
  - AL161915.1
  - CDCP2
  - RP11-446E24.4
  - AL357673.1
  - CYB5RL
  - MRPL37
  - SSBP3
  - SSBP3-AS1
  - RP5-997D24.3
  - RP4-705F19.1
  - AC099796.1
  - RP5-866L20.1
  - RP5-866L20.2
  - HNRNPA1P63
  - ACOT11
  - FAM151A
  - RP11-240D10.4
  - MROH7
  - MROH7-TTC4
  - TTC4
  - PARS2
  - TTC22
  - RP11-67L3.2
  - C1orf177
  - DHCR24
  - RP11-67L3.5
  - RP11-67L3.4
  - RP11-12C17.2
  - TMEM61
  - BSND
  - PCSK9
  - USP24
  - RP11-101C11.1
  - GYG1P3
  - MIR4422
  - GOT2P1
  - RP4-633H17.2
  - RN7SKP291
  - RNU6-830P
  - RP11-466L17.1
  - RP11-90C4.1
  - RP11-90C4.2

ct : []

type :
  - "SV"
  - "CNV"

study :
  - "1kG_phase3"

file :
  - "10_input"

sample :
  - "GermlineSample"

filter :
  - "PASS"
  - "LowGQX"

biotype :
  - "protein_coding"

transcriptionFlags :
  - "CCDS"
  - "basic"

xref :
  - "HPO"

drug :
  - "Neto"

clinicalSignificance :
  - "likely_benign"

functionalScore :
  - id : "cadd_raw"
    min : 0
    max : 1
  - id : "cadd_scaled"
    min : -10
    max : 40

populationFrequencies :
  - id : "1kG_phase3:ALL"
    min : 0
    max : 0.2
  - id : "1kG_phase3:AFR"
    min : 0
    max : 0.15

proteinSubstitution :
  - id : "polyphen"
    min : 0.1
    max : 0.9
    operators : [">", "<"]
  - id : "sift"
    min : 0.1
    max : 0.9

qual :
  id : "polyphen"
  min : 1
  max : 9
  operators : [">"]

conservation :
  id : "phylop"
  min : 0
  max : 1
  operators : ["=", "!="]

sessionIds :
  - "eyJhbGciOiJIUzI1NiJ9.eyJzdWIiOiJ0ZXN0IiwiYXVkIjoiT3BlbkNHQSB1c2VycyIsImlhdCI6MTU0MzQwMTU5OCwiZXhwIjozNzU0MzQwMTU5OH0.c0HSb8j9dfB6nzoq3OYZqYmU1sSoRAzN5C-5miJ6UzY"
  - "eyJhbGciOiJIUzI1NiJ9.eyJzdWIiOiJ0ZXN0IiwiYXVkIjoiT3BlbkNHQSB1c2VycyIsImlhdCI6MTU0MzQwMTU5OCwiZXhwIjozNzU0MzQwMTU5OH0.c0HSb8j9dfB6nzoq3OYZqYmU1sSoRAzN5C-5miJ6UzY"